rs4749926

Homo sapiens
G>A
IL2RA : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0369 (11058/29904,GnomAD)
A=0345 (10054/29118,TOPMED)
A=0375 (1876/5008,1000G)
A=0385 (1482/3854,ALSPAC)
A=0355 (1315/3708,TWINSUK)
chr10:6043349 (GRCh38.p7) (10p15.1)
ND
GWASdb2
4   publication(s)
See rs on genome
76 Enhancers around
17 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 10NC_000010.11:g.6043349G>A
GRCh37.p13 chr 10NC_000010.10:g.6085312G>A
IL2RA RefSeqGene LRG_73

Gene: IL2RA, interleukin 2 receptor, alpha(minus strand)

Molecule type Change Amino acid[Codon] SO Term
IL2RA transcript variant 1NM_000417.2:c.N/AIntron Variant
IL2RA transcript variant 2NM_001308242.1:c.N/AIntron Variant
IL2RA transcript variant 3NM_001308243.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.708A=0.292
1000GenomesAmericanSub694G=0.460A=0.540
1000GenomesEast AsianSub1008G=0.606A=0.394
1000GenomesEuropeSub1006G=0.590A=0.410
1000GenomesGlobalStudy-wide5008G=0.625A=0.375
1000GenomesSouth AsianSub978G=0.690A=0.310
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.615A=0.385
The Genome Aggregation DatabaseAfricanSub8722G=0.686A=0.314
The Genome Aggregation DatabaseAmericanSub836G=0.440A=0.560
The Genome Aggregation DatabaseEast AsianSub1614G=0.618A=0.382
The Genome Aggregation DatabaseEuropeSub18430G=0.614A=0.385
The Genome Aggregation DatabaseGlobalStudy-wide29904G=0.630A=0.369
The Genome Aggregation DatabaseOtherSub302G=0.570A=0.430
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.654A=0.345
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.645A=0.355
PMID Title Author Journal
19956101Overview of the Rapid Response data.Brown WMGenes Immun
19268276Genome-wide association study of smoking initiation and current smoking.Vink JMAm J Hum Genet
20599261Gene-gene interaction in regulatory T-cell function in atopy and asthma development in childhood.Bottema RWJ Allergy Clin Immunol
20668009Inherited variation in immune genes and pathways and glioblastoma risk.Schwartzbaum JACarcinogenesis

P-Value

SNP ID p-value Traits Study
rs47499265.29E-05nicotine smoking19268276

eQTL of rs4749926 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
There is no eQTL annotation for this SNP

meQTL of rs4749926 in Fetal Brain

Probe ID Position Gene beta p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr1060941266095537E0678814
chr1061328966133020E06747584
chr1061330676133131E06747755
chr1061335596134016E06748247
chr1061340616134181E06748749
chr1061345366134597E06749224
chr1061347746134895E06749462
chr1060642156064259E068-21053
chr1060643466064430E068-20882
chr1060941266095537E0688814
chr1061126506113045E06827338
chr1061131536113238E06827841
chr1061133386113394E06828026
chr1061135066113575E06828194
chr1061136016113651E06828289
chr1061136976113792E06828385
chr1061138406113982E06828528
chr1061328966133020E06847584
chr1061335596134016E06848247
chr1061340616134181E06848749
chr1061345366134597E06849224
chr1061347746134895E06849462
chr1061349246134974E06849612
chr1061328966133020E06947584
chr1061330676133131E06947755
chr1061335596134016E06948247
chr1061340616134181E06948749
chr1061251146125325E07039802
chr1061328966133020E07047584
chr1061330676133131E07047755
chr1061335596134016E07048247
chr1061340616134181E07048749
chr1060559966056778E071-28534
chr1061100006110259E07124688
chr1061131536113238E07127841
chr1061133386113394E07128026
chr1061135066113575E07128194
chr1061136016113651E07128289
chr1061136976113792E07128385
chr1061291586129251E07143846
chr1061301656130404E07144853
chr1061328966133020E07147584
chr1061330676133131E07147755
chr1061335596134016E07148247
chr1061340616134181E07148749
chr1060941266095537E0728814
chr1061253666126104E07240054
chr1061328966133020E07247584
chr1061330676133131E07247755
chr1060941266095537E0738814
chr1061328966133020E07347584
chr1061330676133131E07347755
chr1061335596134016E07348247
chr1061340616134181E07348749
chr1061345366134597E07349224
chr1061347746134895E07349462
chr1061349246134974E07349612
chr1061075936107843E07422281
chr1061078636108135E07422551
chr1061081376108257E07422825
chr1061301656130404E07444853
chr1061328966133020E07447584
chr1061330676133131E07447755
chr1061335596134016E07448247
chr1061340616134181E07448749
chr1060662476066297E081-19015
chr1060664566066564E081-18748
chr1060665686066659E081-18653
chr1061301656130404E08144853
chr1061328966133020E08147584
chr1061330676133131E08147755
chr1061328966133020E08247584
chr1061330676133131E08247755
chr1061335596134016E08248247
chr1061340616134181E08248749
chr1061345366134597E08249224










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1060926026093466E0677290
chr1061304366132277E06745124
chr1060926026093466E0687290
chr1061304366132277E06845124
chr1060926026093466E0697290
chr1061304366132277E06945124
chr1061304366132277E07045124
chr1060926026093466E0717290
chr1061304366132277E07145124
chr1060926026093466E0727290
chr1061304366132277E07245124
chr1060926026093466E0737290
chr1061304366132277E07345124
chr1060926026093466E0747290
chr1061304366132277E07445124
chr1061304366132277E08145124
chr1061304366132277E08245124