rs2173962

Homo sapiens
T>C
None
Check p-value
SNV (Single Nucleotide Variation)
C=0076 (2272/29850,GnomAD)
C=0084 (2446/29118,TOPMED)
C=0057 (286/5008,1000G)
C=0044 (170/3854,ALSPAC)
C=0040 (150/3708,TWINSUK)
chr21:31649707 (GRCh38.p7) (21q22.11)
AD
GWASdb2
2   publication(s)
See rs on genome
93 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 21NC_000021.9:g.31649707T>C
GRCh37.p13 chr 21NC_000021.8:g.33022020T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.850C=0.150
1000GenomesAmericanSub694T=0.970C=0.030
1000GenomesEast AsianSub1008T=0.997C=0.003
1000GenomesEuropeSub1006T=0.942C=0.058
1000GenomesGlobalStudy-wide5008T=0.943C=0.057
1000GenomesSouth AsianSub978T=0.990C=0.010
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.956C=0.044
The Genome Aggregation DatabaseAfricanSub8692T=0.865C=0.135
The Genome Aggregation DatabaseAmericanSub836T=0.990C=0.010
The Genome Aggregation DatabaseEast AsianSub1620T=0.998C=0.002
The Genome Aggregation DatabaseEuropeSub18400T=0.941C=0.058
The Genome Aggregation DatabaseGlobalStudy-wide29850T=0.923C=0.076
The Genome Aggregation DatabaseOtherSub302T=0.980C=0.020
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.916C=0.084
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.960C=0.040
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res
22701660Association of polymorphisms in oxidative stress genes with clinical outcomes for bladder cancer treated with Bacillus Calmette-Guerin.Wei HPLoS One

P-Value

SNP ID p-value Traits Study
rs21739620.000716alcohol dependence21314694

eQTL of rs2173962 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 rs2173962 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 )
chr213297671432977428E067-44592
chr213303634333036383E06714323
chr213303656233036614E06714542
chr213303668333036733E06714663
chr213303763833037693E06715618
chr213303779433038158E06715774
chr213303821533038309E06716195
chr213303855333038626E06716533
chr213303875233038825E06716732
chr213303890633039020E06716886
chr213303908633039231E06717066
chr213303935633039423E06717336
chr213303945033039574E06717430
chr213297671432977428E068-44592
chr213297743432977523E068-44497
chr213297754232977671E068-44349
chr213303440033034454E06812380
chr213303452733034666E06812507
chr213303473733034797E06812717
chr213303489433035009E06812874
chr213303589933035976E06813879
chr213303634333036383E06814323
chr213303656233036614E06814542
chr213303668333036733E06814663
chr213303763833037693E06815618
chr213303779433038158E06815774
chr213303821533038309E06816195
chr213297671432977428E069-44592
chr213303363233033719E06911612
chr213303402333034093E06912003
chr213303440033034454E06912380
chr213303452733034666E06912507
chr213303473733034797E06912717
chr213303589933035976E06913879
chr213303634333036383E06914323
chr213303656233036614E06914542
chr213303779433038158E06915774
chr213303363233033719E07011612
chr213303402333034093E07012003
chr213303440033034454E07012380
chr213303452733034666E07012507
chr213303440033034454E07112380
chr213303452733034666E07112507
chr213303473733034797E07112717
chr213303489433035009E07112874
chr213303589933035976E07113879
chr213303634333036383E07114323
chr213303656233036614E07114542
chr213303668333036733E07114663
chr213303763833037693E07115618
chr213303779433038158E07115774
chr213303821533038309E07116195
chr213303855333038626E07116533
chr213303875233038825E07116732
chr213303890633039020E07116886
chr213303908633039231E07117066
chr213297671432977428E072-44592
chr213303589933035976E07213879
chr213303634333036383E07214323
chr213303656233036614E07214542
chr213303763833037693E07215618
chr213303779433038158E07215774
chr213303821533038309E07216195
chr213303855333038626E07216533
chr213297671432977428E073-44592
chr213303363233033719E07311612
chr213303402333034093E07312003
chr213303440033034454E07312380
chr213303452733034666E07312507
chr213303489433035009E07312874
chr213303656233036614E07314542
chr213303668333036733E07314663
chr213303763833037693E07315618
chr213303779433038158E07315774
chr213297671432977428E074-44592
chr213303363233033719E07411612
chr213303402333034093E07412003
chr213303440033034454E07412380
chr213303452733034666E07412507
chr213303473733034797E07412717
chr213303489433035009E07412874
chr213303589933035976E07413879
chr213303634333036383E07414323
chr213303656233036614E07414542
chr213303668333036733E07414663
chr213303763833037693E07415618
chr213303779433038158E07415774
chr213303363233033719E08111612
chr213303402333034093E08112003
chr213303363233033719E08211612
chr213303402333034093E08212003
chr213303440033034454E08212380
chr213303452733034666E08212507










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr213303116333033468E0679143
chr213303116333033468E0689143
chr213303116333033468E0699143
chr213303116333033468E0709143
chr213303116333033468E0719143
chr213303116333033468E0729143
chr213303116333033468E0739143
chr213303116333033468E0749143
chr213303116333033468E0819143
chr213303116333033468E0829143