rs2583442

Homo sapiens
T>C
None
Check p-value
SNV (Single Nucleotide Variation)
C=0247 (7401/29912,GnomAD)
C=0234 (6816/29118,TOPMED)
C=0361 (1808/5008,1000G)
C=0293 (1129/3854,ALSPAC)
C=0278 (1031/3708,TWINSUK)
chr11:2934936 (GRCh38.p7) (11p15.4)
AD
GWASdb2
2   publication(s)
See rs on genome
89 Enhancers around
1 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.2934936T>C
GRCh37.p13 chr 11NC_000011.9:g.2956166T>C
GRCh38.p7 chr 11 alt locus HSCHR11_1_CTG7NT_187585.1:g.167050C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.974C=0.026
1000GenomesAmericanSub694T=0.490C=0.510
1000GenomesEast AsianSub1008T=0.297C=0.703
1000GenomesEuropeSub1006T=0.703C=0.297
1000GenomesGlobalStudy-wide5008T=0.639C=0.361
1000GenomesSouth AsianSub978T=0.580C=0.420
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.707C=0.293
The Genome Aggregation DatabaseAfricanSub8714T=0.928C=0.072
The Genome Aggregation DatabaseAmericanSub838T=0.470C=0.530
The Genome Aggregation DatabaseEast AsianSub1610T=0.303C=0.697
The Genome Aggregation DatabaseEuropeSub18448T=0.723C=0.277
The Genome Aggregation DatabaseGlobalStudy-wide29912T=0.752C=0.247
The Genome Aggregation DatabaseOtherSub302T=0.660C=0.340
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.765C=0.234
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.722C=0.278
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res
21911749CPVL/CHN2 genetic variant is associated with diabetic retinopathy in Chinese type 2 diabetic patients.Hu CDiabetes

P-Value

SNP ID p-value Traits Study
rs25834420.00012alcohol dependence(early age of onset)20201924
rs25834420.00082alcohol dependence20201924

eQTL of rs2583442 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 rs2583442 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 )
chr1129662952967764E06710129
chr1130034183003948E06747252
chr1130044323004472E06748266
chr1130044753004606E06748309
chr1129648972964968E0688731
chr1129662952967764E06810129
chr1129680632968136E06811897
chr1129690922969179E06812926
chr1130034183003948E06847252
chr1130044323004472E06848266
chr1130044753004606E06848309
chr1130046313004681E06848465
chr1130047883004842E06848622
chr1129662952967764E06910129
chr1129968922997117E06940726
chr1129971372997477E06940971
chr1129975392997788E06941373
chr1129978042998183E06941638
chr1130034183003948E06947252
chr1130044323004472E06948266
chr1130044753004606E06948309
chr1130046313004681E06948465
chr1130047883004842E06948622
chr1129662952967764E07010129
chr1130033003003360E07047134
chr1130034183003948E07047252
chr1129304342930499E071-25667
chr1129305022930654E071-25512
chr1129308512931035E071-25131
chr1129612242962992E0715058
chr1129659982966209E0719832
chr1129662952967764E07110129
chr1129680632968136E07111897
chr1130034183003948E07147252
chr1130044323004472E07148266
chr1130044753004606E07148309
chr1130046313004681E07148465
chr1130047883004842E07148622
chr1130049403004995E07148774
chr1129662952967764E07210129
chr1129680632968136E07211897
chr1129860272986242E07229861
chr1129863492986409E07230183
chr1129968922997117E07240726
chr1129971372997477E07240971
chr1129975392997788E07241373
chr1129978042998183E07241638
chr1130024623002554E07246296
chr1130026943002744E07246528
chr1130030563003286E07246890
chr1130033003003360E07247134
chr1130034183003948E07247252
chr1130044323004472E07248266
chr1130044753004606E07248309
chr1130046313004681E07248465
chr1130047883004842E07248622
chr1130049403004995E07248774
chr1129649882965377E0738822
chr1129654892965649E0739323
chr1129657452965809E0739579
chr1129658372965970E0739671
chr1129659982966209E0739832
chr1129662952967764E07310129
chr1129975392997788E07341373
chr1129978042998183E07341638
chr1130030563003286E07346890
chr1130033003003360E07347134
chr1130034183003948E07347252
chr1129662952967764E07410129
chr1129999033000044E07443737
chr1130030563003286E07446890
chr1130033003003360E07447134
chr1130034183003948E07447252
chr1130044323004472E07448266
chr1130044753004606E07448309
chr1130046313004681E07448465
chr1130047883004842E07448622
chr1130049403004995E07448774
chr1129111342914582E081-41584
chr1129657452965809E0819579
chr1129658372965970E0819671
chr1129659982966209E0819832
chr1129662952967764E08110129
chr1129680632968136E08111897
chr1129682072968269E08112041
chr1129683532968484E08112187
chr1129685042968589E08112338
chr1129686002968740E08112434
chr1129680632968136E08211897










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1129491552952634E073-3532