rs17003212

Homo sapiens
T>C
None
Check p-value
SNV (Single Nucleotide Variation)
C=0124 (3726/29928,GnomAD)
C=0089 (2590/29114,TOPMED)
C=0216 (1083/5008,1000G)
C=0094 (362/3854,ALSPAC)
C=0088 (327/3708,TWINSUK)
chr22:42683748 (GRCh38.p7) (22q13.2)
AD
GWASdb2
1   publication(s)
See rs on genome
99 Enhancers around
28 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 22NC_000022.11:g.42683748T>C
GRCh37.p13 chr 22NC_000022.10:g.43079754T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.935C=0.065
1000GenomesAmericanSub694T=0.880C=0.120
1000GenomesEast AsianSub1008T=0.434C=0.566
1000GenomesEuropeSub1006T=0.904C=0.096
1000GenomesGlobalStudy-wide5008T=0.784C=0.216
1000GenomesSouth AsianSub978T=0.750C=0.250
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.906C=0.094
The Genome Aggregation DatabaseAfricanSub8714T=0.931C=0.069
The Genome Aggregation DatabaseAmericanSub838T=0.920C=0.080
The Genome Aggregation DatabaseEast AsianSub1608T=0.426C=0.574
The Genome Aggregation DatabaseEuropeSub18466T=0.886C=0.114
The Genome Aggregation DatabaseGlobalStudy-wide29928T=0.875C=0.124
The Genome Aggregation DatabaseOtherSub302T=0.900C=0.100
Trans-Omics for Precision MedicineGlobalStudy-wide29114T=0.911C=0.089
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.912C=0.088
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs170032120.00034alcohol dependence(early age of onset)20201924
rs170032120.00075alcohol dependence20201924

eQTL of rs17003212 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 rs17003212 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 )
chr224303881243039344E067-40410
chr224303937343039467E067-40287
chr224303947143039716E067-40038
chr224303972643040119E067-39635
chr224304015343043463E067-36291
chr224307931243080258E0670
chr224308026243080527E067508
chr224308054643080618E067792
chr224308065843080812E067904
chr224308083643081082E0671082
chr224303881243039344E068-40410
chr224303937343039467E068-40287
chr224303947143039716E068-40038
chr224303972643040119E068-39635
chr224304015343043463E068-36291
chr224307931243080258E0680
chr224308026243080527E068508
chr224308054643080618E068792
chr224308065843080812E068904
chr224308182243081872E0682068
chr224308192943083447E0682175
chr224308363543085260E0683881
chr224309103843091089E06811284
chr224309123743091329E06811483
chr224309140643091672E06811652
chr224311773443117834E06837980
chr224303881243039344E069-40410
chr224303937343039467E069-40287
chr224303947143039716E069-40038
chr224303972643040119E069-39635
chr224304015343043463E069-36291
chr224305778243057871E069-21883
chr224306982443070500E069-9254
chr224307916443079267E069-487
chr224307931243080258E0690
chr224308026243080527E069508
chr224308054643080618E069792
chr224308065843080812E069904
chr224303972643040119E070-39635
chr224304015343043463E070-36291
chr224308192943083447E0702175
chr224308363543085260E0703881
chr224303834443038442E071-41312
chr224303881243039344E071-40410
chr224303937343039467E071-40287
chr224303947143039716E071-40038
chr224303972643040119E071-39635
chr224305778243057871E071-21883
chr224306982443070500E071-9254
chr224307931243080258E0710
chr224308026243080527E071508
chr224308054643080618E071792
chr224308065843080812E071904
chr224308192943083447E0712175
chr224308718643087236E0717432
chr224308727543087351E0717521
chr224308747543087628E0717721
chr224303937343039467E072-40287
chr224303947143039716E072-40038
chr224303972643040119E072-39635
chr224304015343043463E072-36291
chr224307931243080258E0720
chr224308026243080527E072508
chr224308054643080618E072792
chr224308065843080812E072904
chr224308083643081082E0721082
chr224309103843091089E07211284
chr224309123743091329E07211483
chr224309140643091672E07211652
chr224309896843099018E07219214
chr224309906043099120E07219306
chr224303881243039344E073-40410
chr224303937343039467E073-40287
chr224303947143039716E073-40038
chr224303972643040119E073-39635
chr224304015343043463E073-36291
chr224306719843067309E073-12445
chr224306734743067779E073-11975
chr224306982443070500E073-9254
chr224307931243080258E0730
chr224308026243080527E073508
chr224308054643080618E073792
chr224308065843080812E073904
chr224308192943083447E0732175
chr224308363543085260E0733881
chr224309103843091089E07311284
chr224309123743091329E07311483
chr224303947143039716E074-40038
chr224303972643040119E074-39635
chr224304015343043463E074-36291
chr224306982443070500E074-9254
chr224307931243080258E0740
chr224308026243080527E074508
chr224308054643080618E074792
chr224308065843080812E074904
chr224308083643081082E0741082
chr224308727543087351E0747521
chr224304015343043463E081-36291
chr224305778243057871E082-21883










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr224304384743046047E067-33707
chr224304384743046047E068-33707
chr224304608443046350E068-33404
chr224311501743117629E06835263
chr224304384743046047E069-33707
chr224304608443046350E069-33404
chr224305796043059050E069-20704
chr224311501743117629E06935263
chr224304384743046047E070-33707
chr224304608443046350E070-33404
chr224304384743046047E071-33707
chr224304608443046350E071-33404
chr224305796043059050E071-20704
chr224311501743117629E07135263
chr224304384743046047E072-33707
chr224304608443046350E072-33404
chr224305796043059050E072-20704
chr224311501743117629E07235263
chr224304384743046047E073-33707
chr224304608443046350E073-33404
chr224305796043059050E073-20704
chr224311501743117629E07335263
chr224304384743046047E074-33707
chr224304608443046350E074-33404
chr224311501743117629E07435263
chr224304384743046047E082-33707
chr224304608443046350E082-33404
chr224305796043059050E082-20704