rs2967393

Homo sapiens
T>C
None
Check p-value
SNV (Single Nucleotide Variation)
C=0341 (10206/29924,GnomAD)
C=0426 (12426/29118,TOPMED)
C=0476 (2382/5008,1000G)
C=0148 (569/3854,ALSPAC)
C=0128 (476/3708,TWINSUK)
chr16:82198064 (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.82198064T>C
GRCh37.p13 chr 16NC_000016.9:g.82231669T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.209C=0.791
1000GenomesAmericanSub694T=0.530C=0.470
1000GenomesEast AsianSub1008T=0.621C=0.379
1000GenomesEuropeSub1006T=0.842C=0.158
1000GenomesGlobalStudy-wide5008T=0.524C=0.476
1000GenomesSouth AsianSub978T=0.520C=0.480
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.852C=0.148
The Genome Aggregation DatabaseAfricanSub8698T=0.284C=0.716
The Genome Aggregation DatabaseAmericanSub838T=0.480C=0.520
The Genome Aggregation DatabaseEast AsianSub1618T=0.675C=0.325
The Genome Aggregation DatabaseEuropeSub18468T=0.839C=0.160
The Genome Aggregation DatabaseGlobalStudy-wide29924T=0.658C=0.341
The Genome Aggregation DatabaseOtherSub302T=0.780C=0.220
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.573C=0.426
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.872C=0.128
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
rs29673932.32E-05alcohol consumption23743675

eQTL of rs2967393 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 rs2967393 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 )
chr168220238182202446E067-29223
chr168222352982224363E068-7306
chr168220238182202446E070-29223
chr168220238182202446E071-29223
chr168220467882204761E071-26908
chr168222352982224363E071-7306
chr168219396582194250E072-37419
chr168220238182202446E072-29223
chr168220238182202446E074-29223
chr168222281782223046E074-8623
chr168222352982224363E074-7306
chr168219499982195387E081-36282
chr168219568282195722E081-35947
chr168220238182202446E081-29223
chr168220467882204761E081-26908







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr168220320982204552E067-27117
chr168220320982204552E068-27117
chr168220320982204552E069-27117
chr168220320982204552E070-27117
chr168220320982204552E071-27117
chr168220320982204552E072-27117
chr168220320982204552E073-27117
chr168220320982204552E074-27117
chr168220320982204552E081-27117
chr168220320982204552E082-27117