rs2674052

Homo sapiens
T>A / T>G
None
Check p-value
SNV (Single Nucleotide Variation)
G=0295 (8843/29960,GnomAD)
G=0363 (1819/5008,1000G)
G=0321 (1236/3854,ALSPAC)
G=0324 (1202/3708,TWINSUK)
chr2:59543218 (GRCh38.p7) (2p16.1)
AD
GWASdb2
1   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.59543218T>A
GRCh38.p7 chr 2NC_000002.12:g.59543218T>G
GRCh37.p13 chr 2NC_000002.11:g.59770353T>A
GRCh37.p13 chr 2NC_000002.11:g.59770353T>G

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.737G=0.263
1000GenomesAmericanSub694T=0.590G=0.410
1000GenomesEast AsianSub1008T=0.472G=0.528
1000GenomesEuropeSub1006T=0.677G=0.323
1000GenomesGlobalStudy-wide5008T=0.637G=0.363
1000GenomesSouth AsianSub978T=0.660G=0.340
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.679G=0.321
The Genome Aggregation DatabaseAfricanSub8724T=0.737G=0.263
The Genome Aggregation DatabaseAmericanSub838T=0.570G=0.43,
The Genome Aggregation DatabaseEast AsianSub1614T=0.468G=0.532
The Genome Aggregation DatabaseEuropeSub18482T=0.717G=0.282
The Genome Aggregation DatabaseGlobalStudy-wide29960T=0.704G=0.295
The Genome Aggregation DatabaseOtherSub302T=0.660G=0.34,
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.676G=0.324
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
rs26740526.82E-05alcohol consumption23743675

eQTL of rs2674052 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 rs2674052 in Fetal Brain

Probe ID Position Gene beta p-value
cg03558837chr2:239029375ESPNL0.06462263479058882.4442e-14

Genomic View

Chromatin Interaction

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr2238950342238950447E067-42598
chr2238951505238951913E067-41132
chr2238970839238970899E067-22146
chr2238990205238990255E067-2790
chr2238990452238990751E067-2294
chr2238970839238970899E068-22146
chr2239017313239017876E06824268
chr2238951505238951913E069-41132
chr2238970839238970899E069-22146
chr2238989790238989866E069-3179
chr2238989941238990032E069-3013
chr2238990205238990255E069-2790
chr2238970839238970899E070-22146
chr2238950342238950447E071-42598
chr2238951505238951913E071-41132
chr2238951961238952020E071-41025
chr2238970839238970899E071-22146
chr2238989247238989354E071-3691
chr2238989790238989866E071-3179
chr2238989941238990032E071-3013
chr2238990205238990255E071-2790
chr2238990452238990751E071-2294
chr2239007116239007529E07114071
chr2239017176239017226E07124131
chr2239017313239017876E07124268
chr2238950342238950447E072-42598
chr2238989790238989866E072-3179
chr2238989941238990032E072-3013
chr2238990205238990255E072-2790
chr2238990452238990751E072-2294
chr2239014417239014467E07221372
chr2239014951239015001E07221906
chr2238970839238970899E073-22146
chr2239014951239015001E07321906
chr2238950342238950447E074-42598
chr2238951505238951913E074-41132
chr2238989790238989866E074-3179
chr2238989941238990032E074-3013
chr2238990452238990751E074-2294
chr2239017313239017876E07424268
chr2238994008238994058E081963
chr2238994372238994803E0811327
chr2238993565238993671E082520
chr2238994008238994058E082963










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr2238968700238970607E067-22438
chr2238968700238970607E068-22438
chr2238968700238970607E069-22438
chr2238968700238970607E070-22438
chr2238968700238970607E071-22438
chr2238968700238970607E072-22438
chr2238968700238970607E073-22438
chr2238968700238970607E074-22438
chr2238968700238970607E081-22438
chr2238968700238970607E082-22438