rs4730253

Homo sapiens
A>G
None
Check p-value
SNV (Single Nucleotide Variation)
A==0332 (9962/29926,GnomAD)
A==0379 (11044/29118,TOPMED)
A==0274 (1371/5008,1000G)
A==0295 (1136/3854,ALSPAC)
A==0298 (1105/3708,TWINSUK)
chr7:107720991 (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.107720991A>G
GRCh37.p13 chr 7NC_000007.13:g.107361436A>G

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.554G=0.446
1000GenomesAmericanSub694A=0.250G=0.750
1000GenomesEast AsianSub1008A=0.017G=0.983
1000GenomesEuropeSub1006A=0.304G=0.696
1000GenomesGlobalStudy-wide5008A=0.274G=0.726
1000GenomesSouth AsianSub978A=0.150G=0.850
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.295G=0.705
The Genome Aggregation DatabaseAfricanSub8698A=0.518G=0.482
The Genome Aggregation DatabaseAmericanSub836A=0.190G=0.810
The Genome Aggregation DatabaseEast AsianSub1618A=0.012G=0.988
The Genome Aggregation DatabaseEuropeSub18472A=0.280G=0.719
The Genome Aggregation DatabaseGlobalStudy-wide29926A=0.332G=0.667
The Genome Aggregation DatabaseOtherSub302A=0.300G=0.700
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.379G=0.620
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.298G=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
rs47302533.97E-05alcohol consumption23743675

eQTL of rs4730253 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 rs4730253 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 )
chr7107333486107333578E067-27858
chr7107333824107334105E067-27331
chr7107334175107334517E067-26919
chr7107334625107335182E067-26254
chr7107335233107335327E067-26109
chr7107383023107383099E06721587
chr7107386669107386772E06725233
chr7107387624107387709E06726188
chr7107387798107387880E06726362
chr7107333486107333578E068-27858
chr7107333824107334105E068-27331
chr7107334175107334517E068-26919
chr7107334625107335182E068-26254
chr7107335233107335327E068-26109
chr7107341168107341256E068-20180
chr7107341276107341497E068-19939
chr7107382753107382818E06821317
chr7107386669107386772E06825233
chr7107387624107387709E06826188
chr7107387798107387880E06826362
chr7107387932107387978E06826496
chr7107388350107388400E06826914
chr7107333486107333578E069-27858
chr7107333824107334105E069-27331
chr7107334175107334517E069-26919
chr7107334625107335182E069-26254
chr7107335233107335327E069-26109
chr7107335529107335618E069-25818
chr7107337294107337374E069-24062
chr7107337495107337545E069-23891
chr7107383023107383099E06921587
chr7107386669107386772E06925233
chr7107387624107387709E06926188
chr7107387798107387880E06926362
chr7107387932107387978E06926496
chr7107332948107333294E070-28142
chr7107333486107333578E070-27858
chr7107333824107334105E070-27331
chr7107334175107334517E070-26919
chr7107334625107335182E070-26254
chr7107335233107335327E070-26109
chr7107335529107335618E070-25818
chr7107335644107335829E070-25607
chr7107337495107337545E070-23891
chr7107337639107338679E070-22757
chr7107383023107383099E07021587
chr7107386669107386772E07025233
chr7107387798107387880E07026362
chr7107387932107387978E07026496
chr7107388350107388400E07026914
chr7107332129107332230E071-29206
chr7107332267107332442E071-28994
chr7107332948107333294E071-28142
chr7107333486107333578E071-27858
chr7107333824107334105E071-27331
chr7107335233107335327E071-26109
chr7107337495107337545E071-23891
chr7107337639107338679E071-22757
chr7107383023107383099E07121587
chr7107333824107334105E072-27331
chr7107334175107334517E072-26919
chr7107334625107335182E072-26254
chr7107337639107338679E072-22757
chr7107383023107383099E07221587
chr7107386669107386772E07225233
chr7107333824107334105E073-27331
chr7107334175107334517E073-26919
chr7107334625107335182E073-26254
chr7107335233107335327E073-26109
chr7107337639107338679E073-22757
chr7107333486107333578E074-27858
chr7107333824107334105E074-27331
chr7107334175107334517E074-26919
chr7107335233107335327E074-26109
chr7107333824107334105E081-27331
chr7107337639107338679E081-22757
chr7107338996107339076E081-22360
chr7107334175107334517E082-26919
chr7107334625107335182E082-26254
chr7107337294107337374E082-24062
chr7107337495107337545E082-23891
chr7107337639107338679E082-22757
chr7107386669107386772E08225233
chr7107387798107387880E08226362
chr7107387932107387978E08226496
chr7107388350107388400E08226914










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr7107383118107385525E06721682
chr7107383118107385525E06821682
chr7107383118107385525E06921682
chr7107383118107385525E07021682
chr7107383118107385525E07121682
chr7107383118107385525E07221682
chr7107383118107385525E07321682
chr7107383118107385525E07421682
chr7107383118107385525E08121682
chr7107383118107385525E08221682