rs2967394

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
T=0341 (10223/29920,GnomAD)
T=0426 (12423/29118,TOPMED)
T=0476 (2382/5008,1000G)
T=0147 (567/3854,ALSPAC)
T=0129 (477/3708,TWINSUK)
chr16:82198200 (GRCh38.p7) (16q23.3)
AD
GWASdb2
1   publication(s)
See rs on genome
15 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 16NC_000016.10:g.82198200C>T
GRCh37.p13 chr 16NC_000016.9:g.82231805C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.209T=0.791
1000GenomesAmericanSub694C=0.530T=0.470
1000GenomesEast AsianSub1008C=0.621T=0.379
1000GenomesEuropeSub1006C=0.842T=0.158
1000GenomesGlobalStudy-wide5008C=0.524T=0.476
1000GenomesSouth AsianSub978C=0.520T=0.480
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.853T=0.147
The Genome Aggregation DatabaseAfricanSub8708C=0.284T=0.716
The Genome Aggregation DatabaseAmericanSub836C=0.480T=0.520
The Genome Aggregation DatabaseEast AsianSub1614C=0.673T=0.327
The Genome Aggregation DatabaseEuropeSub18460C=0.839T=0.160
The Genome Aggregation DatabaseGlobalStudy-wide29920C=0.658T=0.341
The Genome Aggregation DatabaseOtherSub302C=0.780T=0.220
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.573T=0.426
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.871T=0.129
PMID Title Author Journal
23743675A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.Kapoor MHum Genet

P-Value

SNP ID p-value Traits Study
rs29673942.29E-05alcohol consumption23743675

eQTL of rs2967394 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 rs2967394 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 )
chr168220238182202446E067-29359
chr168222352982224363E068-7442
chr168220238182202446E070-29359
chr168220238182202446E071-29359
chr168220467882204761E071-27044
chr168222352982224363E071-7442
chr168219396582194250E072-37555
chr168220238182202446E072-29359
chr168220238182202446E074-29359
chr168222281782223046E074-8759
chr168222352982224363E074-7442
chr168219499982195387E081-36418
chr168219568282195722E081-36083
chr168220238182202446E081-29359
chr168220467882204761E081-27044







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr168220320982204552E067-27253
chr168220320982204552E068-27253
chr168220320982204552E069-27253
chr168220320982204552E070-27253
chr168220320982204552E071-27253
chr168220320982204552E072-27253
chr168220320982204552E073-27253
chr168220320982204552E074-27253
chr168220320982204552E081-27253
chr168220320982204552E082-27253