rs12972040

Homo sapiens
G>C
None
Check p-value
SNV (Single Nucleotide Variation)
C=0368 (10998/29864,GnomAD)
C=0337 (9818/29118,TOPMED)
C=0290 (1452/5008,1000G)
C=0427 (1646/3854,ALSPAC)
C=0419 (1554/3708,TWINSUK)
chr19:35577160 (GRCh38.p7) (19q13.12)
AD
GWASdb2
1   publication(s)
See rs on genome
26 Enhancers around
27 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 19NC_000019.10:g.35577160G>C
GRCh37.p13 chr 19NC_000019.9:g.36068062G>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.781C=0.219
1000GenomesAmericanSub694G=0.730C=0.270
1000GenomesEast AsianSub1008G=0.842C=0.158
1000GenomesEuropeSub1006G=0.554C=0.446
1000GenomesGlobalStudy-wide5008G=0.710C=0.290
1000GenomesSouth AsianSub978G=0.620C=0.380
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.573C=0.427
The Genome Aggregation DatabaseAfricanSub8712G=0.762C=0.238
The Genome Aggregation DatabaseAmericanSub838G=0.700C=0.300
The Genome Aggregation DatabaseEast AsianSub1618G=0.844C=0.156
The Genome Aggregation DatabaseEuropeSub18396G=0.551C=0.448
The Genome Aggregation DatabaseGlobalStudy-wide29864G=0.631C=0.368
The Genome Aggregation DatabaseOtherSub300G=0.460C=0.540
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.662C=0.337
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.581C=0.419
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

P-Value

SNP ID p-value Traits Study
rs129720400.000473alcohol dependence21314694

eQTL of rs12972040 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 rs12972040 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 )
chr193603832336038416E070-29646
chr193603850636038568E070-29494
chr193603857736038627E070-29435
chr193602473136025530E071-42532
chr193604208336042171E072-25891
chr193610272936102779E07234667
chr193610440236104455E07236340
chr193610451836104578E07236456
chr193610468136104823E07236619
chr193610483436104910E07236772
chr193603832336038416E073-29646
chr193603850636038568E073-29494
chr193603857736038627E073-29435
chr193603881336039037E073-29025
chr193610281536103256E07434753
chr193610440236104455E07436340
chr193610451836104578E07436456
chr193610281536103256E08134753
chr193610440236104455E08136340
chr193610451836104578E08136456
chr193610468136104823E08136619
chr193603832336038416E082-29646
chr193603850636038568E082-29494
chr193603857736038627E082-29435
chr193610468136104823E08236619
chr193610483436104910E08236772







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr193603578736037484E067-30578
chr193604823836049529E067-18533
chr193610328436104200E06735222
chr193603578736037484E068-30578
chr193604823836049529E068-18533
chr193610328436104200E06835222
chr193603578736037484E069-30578
chr193604823836049529E069-18533
chr193610328436104200E06935222
chr193603578736037484E070-30578
chr193610328436104200E07035222
chr193603578736037484E071-30578
chr193604823836049529E071-18533
chr193610328436104200E07135222
chr193603578736037484E072-30578
chr193604823836049529E072-18533
chr193610328436104200E07235222
chr193603578736037484E073-30578
chr193604823836049529E073-18533
chr193610328436104200E07335222
chr193603578736037484E074-30578
chr193610328436104200E07435222
chr193603578736037484E081-30578
chr193603578736037484E082-30578
chr193604823836049529E082-18533
chr193604956136049611E082-18451
chr193610328436104200E08235222