Tag

T-Cell Regulation

69 genetic variants with this tag.

RSID	Gene	Description	Category
rs11568821	LOC105373977 PDCD1/LOC105373977 PD1.3	Intronic regulatory variant near the PDCD1 (PD-1) immune checkpoint locus tha...	Autoimmune Tolerance & T-Cell Regulation	T-Cell Regulation	Moderate
rs1016140	CD58	Intronic CD58 variant with a dual role — the G allele increases T-cell activi...	Neurology & Cognition	T-Cell Regulation	Moderate
rs12101261	TSHR TSHR Intron 1 Adjacent Regulatory Variant	Intronic regulatory variant in TSHR intron 1 that is the primary PLZF repress...	Autoimmune Tolerance & T-Cell Regulation	T-Cell Regulation	Strong
rs1217414	PTPN22	Intronic PTPN22 variant independently associated with psoriasis and ankylosin...	Autoimmune Tolerance & T-Cell Regulation	T-Cell Regulation	Moderate
rs1234314	TNFSF4	Intronic variant in TNFSF4 that reduces OX40 ligand promoter activity and is ...	Interferon Signaling & Systemic Autoimmune	T-Cell Regulation	Moderate
rs11079788	TBX21 TBX21 Regulatory Variant	Intronic regulatory variant in TBX21 that influences T-bet expression and Th1...	Allergy & Atopic Disease	T-Cell Regulation	Emerging
rs12730735	PTPN22	Intronic PTPN22 haplotype tag variant that refines autoimmune risk stratifica...	Autoimmune Tolerance & T-Cell Regulation	T-Cell Regulation	Moderate
rs11236797	LRRC32	Regulatory variant in a distal enhancer at 11q13.5 that controls GARP express...	Allergy & Atopic Disease	T-Cell Regulation	Strong
rs1154155	TRA	T-cell receptor alpha locus variant associated with narcolepsy susceptibility...	Hormones & Sleep	T-Cell Regulation	Strong
rs1310182	PTPN22 PTPN22 Intron Variant (c.2054-852T>C)	Intronic PTPN22 variant in a transcription factor-binding site, associated wi...	Autoimmune Tolerance & T-Cell Regulation	T-Cell Regulation	Moderate
rs11465804	IL23R	Intronic IL23R variant in strong linkage disequilibrium with the functional R...	IBD & Mucosal Immunity	T-Cell Regulation	Strong
rs16840252	CTLA4	Upstream promoter variant (~1147 bp 5' of CTLA4) tagging an autoimmune-associ...	Autoimmune Tolerance & T-Cell Regulation	T-Cell Regulation	Moderate
rs17085007	USP12	Regulatory variant at the chromosome 13q12 locus that tags a region upstream ...	Autoimmune Tolerance & T-Cell Regulation	T-Cell Regulation	Strong
rs201408742	GPR174	X-linked intergenic variant near GPR174 (G protein-coupled receptor 174), a l...	TNF, NF-kB & Inflammatory Cytokines	T-Cell Regulation	Emerging
rs179247	TSHR TSHR Intron 1 Graves' Disease Risk Variant	Intronic regulatory variant in TSHR intron 1; the A allele reduces thymic exp...	Autoimmune Tolerance & T-Cell Regulation	T-Cell Regulation	Strong
rs11650354	TBX21 TBX21 Region Variant	Intronic variant in TBX21 that forms a risk haplotype with rs16947078; the T ...	Allergy & Atopic Disease	T-Cell Regulation	Strong
rs1978060	TBX1	Intronic variant in TBX1 acting as a cis-eQTL that reduces TBX1 expression an...	Innate Immunity & Infection Defense	T-Cell Regulation	Moderate
rs2105325	LOC100506023 LOC100506023 rs2105325	Intronic variant in LOC100506023 (PRDX6-AS1) and TNFSF4 at the 1q25.1 locus, ...	TNF, NF-kB & Inflammatory Cytokines	T-Cell Regulation	Strong
rs2234067	ETV7 ETV7 rs2234067	Upstream regulatory variant near ETV7, an interferon-inducible transcriptiona...	Interferon Signaling & Systemic Autoimmune	T-Cell Regulation	Strong
rs1343151	IL23R	Intronic IL23R variant whose minor A allele tags the protective haplotype for...	IBD & Mucosal Immunity	T-Cell Regulation	Moderate
rs2230600	PTPN13 I1522M	Missense variant in PTPN13 (FAP-1) converting Ile to Met at position 1522; th...	TNF, NF-kB & Inflammatory Cytokines	T-Cell Regulation	Moderate
rs11657479	TBX21 TBX21 3' UTR Variant	A 3' UTR variant in TBX21 (c.*169T>C) that modulates T-bet expression; the C ...	Allergy & Atopic Disease	T-Cell Regulation	Moderate
rs1495965	IL23R	Intergenic variant between IL23R and IL12RB2 on chromosome 1p31.3 associated ...	IBD & Mucosal Immunity	T-Cell Regulation	Strong
rs11808092	EVI5	Missense variant in EVI5's coiled-coil domain altering immune cell traffickin...	Neurology & Cognition	T-Cell Regulation	Strong
rs149007883	NFKBIZ NFKBIZ p.Gly102Ala	Rare protective missense variant in the NF-kB inhibitor zeta gene that reduce...	Hormones & Sleep	T-Cell Regulation	Moderate
rs12044852	CD58	Intronic CD58 variant in strong LD with rs2300747 (r²=0.929); the C allele dr...	Neurology & Cognition	T-Cell Regulation	Strong
rs12251307	IL2RA IL-2 receptor alpha chain variant	Intergenic variant 19 kb downstream of IL2RA associated with atopic dermatiti...	Allergy & Atopic Disease	T-Cell Regulation	Strong
rs231806	CTLA4	Upstream regulatory variant in the CTLA4 MH30 region associated with latent a...	Autoimmune Tolerance & T-Cell Regulation	T-Cell Regulation	Emerging
rs2469434	CD226	Deep-intronic variant in the CD226 (DNAM-1) co-stimulatory receptor gene asso...	Autoimmune Tolerance & T-Cell Regulation	T-Cell Regulation	Moderate
rs2488457	PTPN22	Promoter variant in PTPN22 that alters gene expression and modulates autoimmu...	Autoimmune Tolerance & T-Cell Regulation	T-Cell Regulation	Moderate
rs1335532	CD58	Intronic CD58 variant that sits inside the miR-548ac stem-loop; the A allele ...	Neurology & Cognition	T-Cell Regulation	Strong
rs1295685	IL13	3'-UTR regulatory variant in IL13 that influences IL-13 mRNA stability and ex...	Allergy & Atopic Disease	T-Cell Regulation	Moderate
rs7514229	TNFSF4 TNFSF4 OX40 ligand variant	Intronic variant in TNFSF4 that tags an upstream regulatory haplotype associa...	Interferon Signaling & Systemic Autoimmune	T-Cell Regulation	Moderate
rs1295686	IL13 IL-13 Atopy Promoter Variant	Intronic variant in IL13 that tags the atopic risk haplotype; the minor T all...	Allergy & Atopic Disease	T-Cell Regulation	Strong
rs3789604	RSBN1	Synonymous RSBN1 variant that tags a PTPN22 locus haplotype independently ass...	Autoimmune Tolerance & T-Cell Regulation	T-Cell Regulation	Moderate
rs6445975	PXK	Intronic PXK variant; the G allele is a replicated GWAS risk allele for syste...	B-Cell Immunity & Antibody-Mediated Disease	T-Cell Regulation	Moderate
rs3790565	IL12RB2	Intronic IL12RB2 variant associated with IL-12 signaling pathway variation an...	IBD & Mucosal Immunity	T-Cell Regulation	Moderate
rs41295061	IL2RA	Regulatory variant in the IL2RA locus altering LEF1 transcription factor bind...	Autoimmune Tolerance & T-Cell Regulation	T-Cell Regulation	Strong
rs3850641	TNFSF4 TNFSF4 (OX40L) Intron 1 Variant	Intronic variant in TNFSF4 (OX40 ligand) linked to a promoter haplotype that ...	Coronary Artery Disease & Atherosclerosis	T-Cell Regulation	Moderate
rs3890745	MMEL1 MMEL1 rs3890745	Intronic variant near MMEL1 and TNFRSF14 on chromosome 1p36; the C allele is ...	TNF, NF-kB & Inflammatory Cytokines	T-Cell Regulation	Strong
rs559406	PTPN2	Intronic PTPN2 variant whose G allele reduces T-cell protein tyrosine phospha...	Autoimmune Tolerance & T-Cell Regulation	T-Cell Regulation	Moderate
rs7528684	FCRL3 -169C>T	Promoter variant in FCRL3 that alters NF-κB binding and elevates FCRL3 expres...	B-Cell Immunity & Antibody-Mediated Disease	T-Cell Regulation	Moderate
rs9378815	IRF4	Regulatory variant ~15 kb upstream of IRF4 that modulates germinal center B c...	Interferon Signaling & Systemic Autoimmune	T-Cell Regulation	Strong
rs4562997	SMAD3	Second intronic enhancer variant in SMAD3 that modulates TGF-beta effector si...	IBD & Mucosal Immunity	T-Cell Regulation	Moderate
rs7234029	PTPN2	Intronic PTPN2 variant that reduces expression of T-cell protein tyrosine pho...	Autoimmune Tolerance & T-Cell Regulation	T-Cell Regulation	Strong
rs17696736	NAA25 NAA25 G/A	Intronic tag SNP at the 12q24 locus that captures SH2B3/LNK regulatory variat...	Blood Sugar & Diabetes	T-Cell Regulation	Strong
rs725613	CLEC16A	Intronic variant in the autophagy regulator CLEC16A that alters thymic T-cell...	Autoimmune Tolerance & T-Cell Regulation	T-Cell Regulation	Strong
rs167769	STAT6	Intronic variant in STAT6 (intron 2) that forms a functional haplotype with r...	Allergy & Atopic Disease	T-Cell Regulation	Strong
rs16947078	TBX21 TBX21 T-bet asthma variant	Intergenic regulatory variant near TBX21 associated with allergic asthma susc...	Allergy & Atopic Disease	T-Cell Regulation	Strong
rs763361	CD226 Gly307Ser	Missense variant in the T-cell and NK-cell co-stimulatory receptor CD226 (DNA...	Autoimmune Tolerance & T-Cell Regulation	T-Cell Regulation	Strong
rs17250932	TBX21 TBX21 Promoter Variant	Upstream promoter variant in TBX21 that reduces neonatal IL-5 and IL-13 secre...	Allergy & Atopic Disease	T-Cell Regulation	Emerging
rs17293632	SMAD3	Intronic regulatory variant in SMAD3 that alters TGF-beta effector signaling ...	Allergy & Atopic Disease	T-Cell Regulation	Strong
rs7753394	TNFAIP3	Intergenic tag SNP in the 6q23 regulatory region upstream of TNFAIP3 that co-...	TNF, NF-kB & Inflammatory Cytokines	T-Cell Regulation	Moderate
rs17699436	TBX21 TBX21 Downstream Regulatory Variant	Intergenic variant 5 kb downstream of TBX21 (encoding the T-bet transcription...	Allergy & Atopic Disease	T-Cell Regulation	Moderate
rs6519605	TBX1	Intergenic variant on chromosome 22q11 (merged into rs133255) located downstr...	Innate Immunity & Infection Defense	T-Cell Regulation	Emerging
rs2300747	CD58	Intronic variant in CD58 (LFA-3) that modulates T-cell costimulation and Treg...	Neurology & Cognition	T-Cell Regulation	Strong
rs20541	IL13 R130Q	Missense variant in IL-13 that enhances Th2 cytokine signaling, elevating ser...	Allergy & Atopic Disease	T-Cell Regulation	Strong
rs2069705	IFNG IFNG Promoter -1616C/T	Upstream regulatory variant ~1,616 bp before the IFNG transcription start sit...	Allergy & Atopic Disease	T-Cell Regulation	Moderate
rs2523506	DDX39B	Regulatory variant in the 5' UTR of DDX39B (RNA helicase/mRNA export factor) ...	Neurology & Cognition	T-Cell Regulation	Strong
rs3194051	IL7R I356V	Exon 8 missense variant in the IL-7 receptor alpha chain (Ile356Val) associat...	Neurology & Cognition	T-Cell Regulation	Moderate
rs2244012	RAD50 RAD50 Intron 2 Variant	Intronic variant in RAD50 on chromosome 5q31.1 that was the top GWAS hit for ...	Allergy & Atopic Disease	T-Cell Regulation	Moderate
rs3024971	STAT6	Intronic variant in STAT6 near the 3' end of the gene that modulates STAT6 mR...	Allergy & Atopic Disease	T-Cell Regulation	Moderate
rs324011	STAT6	Intronic variant in STAT6 (intron 2) that creates an NF-κB binding site, incr...	Allergy & Atopic Disease	T-Cell Regulation	Strong
rs324013	STAT6	Promoter variant in STAT6 that alters transcription factor binding; the T all...	Allergy & Atopic Disease	T-Cell Regulation	Moderate
rs689	INS INS VNTR (Type 1 Diabetes Susceptibility)	Tag SNP for the insulin gene VNTR promoter — shorter Class I repeats raise T1...	Blood Sugar & Diabetes	T-Cell Regulation	Strong
rs4794067	TBX21 TBX21 T-bet Promoter -1993T>C	Promoter variant ~1993 bp upstream of TBX21 (encoding the T-bet master transc...	Allergy & Atopic Disease	T-Cell Regulation	Moderate
rs7130588	LRRC32	Regulatory variant near LRRC32 (GARP) on chromosome 11q13.5; the G allele inc...	Allergy & Atopic Disease	T-Cell Regulation	Strong
rs71625130	SNX27 1q21.3 T-cell signaling / Th17 locus variant	Intronic SNX27 variant at the 1q21.3 GWAS locus that increases atopic dermati...	Allergy & Atopic Disease	T-Cell Regulation	Strong
rs6897932	IL7R T244I	Splicing variant in the IL-7 receptor alpha chain that shifts the balance tow...	Neurology & Cognition	T-Cell Regulation	Strong