rs11013291

Homo sapiens
T>C
MSRB2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0397 (11908/29926,GnomAD)
C=0379 (11044/29118,TOPMED)
C=0325 (1630/5008,1000G)
C=0475 (1830/3854,ALSPAC)
C=0463 (1715/3708,TWINSUK)
chr10:23111262 (GRCh38.p7) (10p12.2)
AD
GWASdb2
2   publication(s)
See rs on genome
101 Enhancers around
16 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 10NC_000010.11:g.23111262T>C
GRCh37.p13 chr 10NC_000010.10:g.23400191T>C

Gene: MSRB2, methionine sulfoxide reductase B2(plus strand)

Molecule type Change Amino acid[Codon] SO Term
MSRB2 transcriptNM_012228.3:c.N/AIntron Variant
MSRB2 transcript variant X1XM_011519426.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.726C=0.274
1000GenomesAmericanSub694T=0.780C=0.220
1000GenomesEast AsianSub1008T=0.703C=0.297
1000GenomesEuropeSub1006T=0.552C=0.448
1000GenomesGlobalStudy-wide5008T=0.675C=0.325
1000GenomesSouth AsianSub978T=0.630C=0.370
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.525C=0.475
The Genome Aggregation DatabaseAfricanSub8712T=0.693C=0.307
The Genome Aggregation DatabaseAmericanSub838T=0.790C=0.210
The Genome Aggregation DatabaseEast AsianSub1616T=0.697C=0.303
The Genome Aggregation DatabaseEuropeSub18460T=0.541C=0.458
The Genome Aggregation DatabaseGlobalStudy-wide29926T=0.602C=0.397
The Genome Aggregation DatabaseOtherSub300T=0.640C=0.360
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.620C=0.379
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.537C=0.463
PMID Title Author Journal
25416100Oxidative stress in susceptibility to breast cancer: study in Spanish population.Rodrigues PBMC Cancer
24277619ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.Quillen EEAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs110132919.8E-05alcohol consumption (maxi-drinks)24277619

eQTL of rs11013291 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 rs11013291 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 )
chr102335416323355000E067-45191
chr102335688223357763E067-42428
chr102338750523387555E067-12636
chr102338779723387847E067-12344
chr102338794223388029E067-12162
chr102338808423388124E067-12067
chr102338822123388272E067-11919
chr102338855723388615E067-11576
chr102340029323400373E067102
chr102340043923400519E067248
chr102340053823400704E067347
chr102340800723408118E0677816
chr102340817023408220E0677979
chr102335196623352277E068-47914
chr102335416323355000E068-45191
chr102338779723387847E068-12344
chr102338794223388029E068-12162
chr102338808423388124E068-12067
chr102338822123388272E068-11919
chr102338855723388615E068-11576
chr102339950123400172E068-19
chr102340029323400373E068102
chr102340043923400519E068248
chr102340053823400704E068347
chr102340098423401081E068793
chr102340236423402414E0682173
chr102340253023402590E0682339
chr102340274923402799E0682558
chr102340800723408118E0687816
chr102340817023408220E0687979
chr102340906723409304E0688876
chr102335416323355000E069-45191
chr102335504323355121E069-45070
chr102335518023355300E069-44891
chr102338750523387555E069-12636
chr102338779723387847E069-12344
chr102338794223388029E069-12162
chr102338808423388124E069-12067
chr102338822123388272E069-11919
chr102338855723388615E069-11576
chr102339950123400172E069-19
chr102340029323400373E069102
chr102340043923400519E069248
chr102340053823400704E069347
chr102340906723409304E0698876
chr102340971523409773E0699524
chr102341032523410387E06910134
chr102335196623352277E070-47914
chr102335229723353171E070-47020
chr102337000823370707E070-29484
chr102335416323355000E071-45191
chr102335504323355121E071-45070
chr102335518023355300E071-44891
chr102335661123356806E071-43385
chr102335688223357763E071-42428
chr102337071223370782E071-29409
chr102337092623371125E071-29066
chr102338779723387847E071-12344
chr102338794223388029E071-12162
chr102338808423388124E071-12067
chr102338822123388272E071-11919
chr102338855723388615E071-11576
chr102338872223389354E071-10837
chr102339950123400172E071-19
chr102340029323400373E071102
chr102340043923400519E071248
chr102340053823400704E071347
chr102340800723408118E0717816
chr102340817023408220E0717979
chr102340906723409304E0718876
chr102340971523409773E0719524
chr102335318723353816E072-46375
chr102335416323355000E072-45191
chr102335688223357763E072-42428
chr102338750523387555E072-12636
chr102338794223388029E072-12162
chr102338808423388124E072-12067
chr102338822123388272E072-11919
chr102338855723388615E072-11576
chr102338872223389354E072-10837
chr102335416323355000E073-45191
chr102335196623352277E074-47914
chr102335416323355000E074-45191
chr102338719423387317E074-12874
chr102338750523387555E074-12636
chr102338779723387847E074-12344
chr102338794223388029E074-12162
chr102338808423388124E074-12067
chr102338822123388272E074-11919
chr102338855723388615E074-11576
chr102338872223389354E074-10837
chr102340029323400373E074102
chr102340043923400519E074248
chr102340800723408118E0747816
chr102340817023408220E0747979
chr102340906723409304E0748876
chr102340971523409773E0749524
chr102335196623352277E081-47914
chr102335229723353171E081-47020
chr102335196623352277E082-47914
chr102337000823370707E082-29484










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr102338331023386457E067-13734
chr102344699123447709E06746800
chr102338331023386457E068-13734
chr102344699123447709E06846800
chr102338331023386457E069-13734
chr102344699123447709E06946800
chr102338331023386457E070-13734
chr102338331023386457E071-13734
chr102344699123447709E07146800
chr102338331023386457E072-13734
chr102344699123447709E07246800
chr102338331023386457E073-13734
chr102344699123447709E07346800
chr102338331023386457E074-13734
chr102344699123447709E07446800
chr102338331023386457E082-13734