Tag

T-Cell Regulation

48 genetic variants with this tag.

RSID	Gene	Description	Category
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
rs11079788	TBX21 TBX21 Regulatory Variant	Intronic regulatory variant in TBX21 that influences T-bet expression and Th1...	Allergy & Atopic Disease	T-Cell Regulation	Emerging
rs1154155	TRA	T-cell receptor alpha locus variant associated with narcolepsy susceptibility...	Hormones & Sleep	T-Cell Regulation	Strong
rs11236797	LRRC32	Regulatory variant in a distal enhancer at 11q13.5 that controls GARP express...	Allergy & Atopic Disease	T-Cell Regulation	Strong
rs12730735	PTPN22	Intronic PTPN22 haplotype tag variant that refines autoimmune risk stratifica...	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
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
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
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
rs2234067	ETV7 ETV7 rs2234067	Upstream regulatory variant near ETV7, an interferon-inducible transcriptiona...	Interferon Signaling & Systemic Autoimmune	T-Cell Regulation	Strong
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
rs1978060	TBX1	Intronic variant in TBX1 acting as a cis-eQTL that reduces TBX1 expression an...	Innate Immunity & Infection Defense	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
rs1343151	IL23R	Intronic IL23R variant whose minor A allele tags the protective haplotype for...	IBD & Mucosal Immunity	T-Cell Regulation	Moderate
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
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
rs2469434	CD226	Deep-intronic variant in the CD226 (DNAM-1) co-stimulatory receptor gene asso...	Autoimmune Tolerance & T-Cell Regulation	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
rs1295685	IL13	3'-UTR regulatory variant in IL13; the minor A allele co-segregates with the ...	Allergy & Atopic Disease	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
rs17696736	NAA25 NAA25 G/A	Intronic tag SNP at the 12q24 locus, increasing risk for type 1 diabetes, juv...	Blood Sugar & Diabetes	T-Cell Regulation	Strong
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
rs3850641	TNFSF4 TNFSF4 (OX40L) Intron 1 Variant	Intronic variant in TNFSF4 (OX40 ligand); homozygous G carriers show approxim...	Coronary Artery Disease & Atherosclerosis	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
rs1335532	CD58	Intronic CD58 variant	Neurology & Cognition	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
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
rs16947078	TBX21 TBX21 T-bet asthma variant	Intergenic regulatory variant near TBX21 associated with allergic asthma susc...	Allergy & Atopic Disease	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 increasing susceptibility to Crohn's disease, rheumato...	Autoimmune Tolerance & T-Cell Regulation	T-Cell Regulation	Strong
rs17293632	SMAD3	Intronic regulatory variant in SMAD3 that alters TGF-beta effector signaling ...	Allergy & Atopic Disease	T-Cell Regulation	Strong
rs725613	CLEC16A	Intronic variant in the autophagy regulator CLEC16A, influencing risk for typ...	Autoimmune Tolerance & T-Cell Regulation	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
rs7753394	TNFAIP3	Intergenic tag SNP in the 6q23 regulatory region upstream of TNFAIP3	TNF, NF-kB & Inflammatory Cytokines	T-Cell Regulation	Moderate
rs20541	IL13 R130Q	Missense variant in IL-13 that enhances Th2 cytokine signaling, elevating ser...	Allergy & Atopic Disease	T-Cell Regulation	Strong
rs2300747	CD58	Intronic variant in CD58 (LFA-3) that modulates T-cell costimulation and Treg...	Neurology & Cognition	T-Cell Regulation	Strong
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
rs2523506	DDX39B	Regulatory variant in the 5' UTR of DDX39B (RNA helicase/mRNA export factor) ...	Neurology & Cognition	T-Cell Regulation	Strong
rs324011	STAT6	Intronic variant in STAT6 (intron 2) that creates an NF-κB binding site, incr...	Allergy & Atopic Disease	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
rs324013	STAT6	Promoter variant in STAT6 that alters transcription factor binding; the T all...	Allergy & Atopic Disease	T-Cell Regulation	Moderate
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