rs4730252

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
C==0244 (7310/29932,GnomAD)
C==0245 (7156/29118,TOPMED)
C==0177 (884/5008,1000G)
C==0295 (1136/3854,ALSPAC)
C==0298 (1104/3708,TWINSUK)
chr7:107720852 (GRCh38.p7) (7q22.3)
AD
GWASdb2
1   publication(s)
See rs on genome
86 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.107720852C>T
GRCh37.p13 chr 7NC_000007.13:g.107361297C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.198T=0.802
1000GenomesAmericanSub694C=0.230T=0.770
1000GenomesEast AsianSub1008C=0.017T=0.983
1000GenomesEuropeSub1006C=0.304T=0.696
1000GenomesGlobalStudy-wide5008C=0.177T=0.823
1000GenomesSouth AsianSub978C=0.150T=0.850
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.295T=0.705
The Genome Aggregation DatabaseAfricanSub8716C=0.213T=0.787
The Genome Aggregation DatabaseAmericanSub836C=0.170T=0.830
The Genome Aggregation DatabaseEast AsianSub1620C=0.012T=0.988
The Genome Aggregation DatabaseEuropeSub18458C=0.281T=0.718
The Genome Aggregation DatabaseGlobalStudy-wide29932C=0.244T=0.755
The Genome Aggregation DatabaseOtherSub302C=0.300T=0.700
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.245T=0.754
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.298T=0.702
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
rs47302523.97E-05alcohol consumption23743675

eQTL of rs4730252 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 rs4730252 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 )
chr7107333486107333578E067-27719
chr7107333824107334105E067-27192
chr7107334175107334517E067-26780
chr7107334625107335182E067-26115
chr7107335233107335327E067-25970
chr7107383023107383099E06721726
chr7107386669107386772E06725372
chr7107387624107387709E06726327
chr7107387798107387880E06726501
chr7107333486107333578E068-27719
chr7107333824107334105E068-27192
chr7107334175107334517E068-26780
chr7107334625107335182E068-26115
chr7107335233107335327E068-25970
chr7107341168107341256E068-20041
chr7107341276107341497E068-19800
chr7107382753107382818E06821456
chr7107386669107386772E06825372
chr7107387624107387709E06826327
chr7107387798107387880E06826501
chr7107387932107387978E06826635
chr7107388350107388400E06827053
chr7107333486107333578E069-27719
chr7107333824107334105E069-27192
chr7107334175107334517E069-26780
chr7107334625107335182E069-26115
chr7107335233107335327E069-25970
chr7107335529107335618E069-25679
chr7107337294107337374E069-23923
chr7107337495107337545E069-23752
chr7107383023107383099E06921726
chr7107386669107386772E06925372
chr7107387624107387709E06926327
chr7107387798107387880E06926501
chr7107387932107387978E06926635
chr7107332948107333294E070-28003
chr7107333486107333578E070-27719
chr7107333824107334105E070-27192
chr7107334175107334517E070-26780
chr7107334625107335182E070-26115
chr7107335233107335327E070-25970
chr7107335529107335618E070-25679
chr7107335644107335829E070-25468
chr7107337495107337545E070-23752
chr7107337639107338679E070-22618
chr7107383023107383099E07021726
chr7107386669107386772E07025372
chr7107387798107387880E07026501
chr7107387932107387978E07026635
chr7107388350107388400E07027053
chr7107332129107332230E071-29067
chr7107332267107332442E071-28855
chr7107332948107333294E071-28003
chr7107333486107333578E071-27719
chr7107333824107334105E071-27192
chr7107335233107335327E071-25970
chr7107337495107337545E071-23752
chr7107337639107338679E071-22618
chr7107383023107383099E07121726
chr7107333824107334105E072-27192
chr7107334175107334517E072-26780
chr7107334625107335182E072-26115
chr7107337639107338679E072-22618
chr7107383023107383099E07221726
chr7107386669107386772E07225372
chr7107333824107334105E073-27192
chr7107334175107334517E073-26780
chr7107334625107335182E073-26115
chr7107335233107335327E073-25970
chr7107337639107338679E073-22618
chr7107333486107333578E074-27719
chr7107333824107334105E074-27192
chr7107334175107334517E074-26780
chr7107335233107335327E074-25970
chr7107333824107334105E081-27192
chr7107337639107338679E081-22618
chr7107338996107339076E081-22221
chr7107334175107334517E082-26780
chr7107334625107335182E082-26115
chr7107337294107337374E082-23923
chr7107337495107337545E082-23752
chr7107337639107338679E082-22618
chr7107386669107386772E08225372
chr7107387798107387880E08226501
chr7107387932107387978E08226635
chr7107388350107388400E08227053










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr7107383118107385525E06721821
chr7107383118107385525E06821821
chr7107383118107385525E06921821
chr7107383118107385525E07021821
chr7107383118107385525E07121821
chr7107383118107385525E07221821
chr7107383118107385525E07321821
chr7107383118107385525E07421821
chr7107383118107385525E08121821
chr7107383118107385525E08221821