rs4724793

Homo sapiens
T>C
None
Check p-value
SNV (Single Nucleotide Variation)
T==0074 (2238/29982,GnomAD)
T==0066 (1921/29118,TOPMED)
T==0043 (213/5008,1000G)
T==0128 (492/3854,ALSPAC)
T==0135 (501/3708,TWINSUK)
chr7:6275135 (GRCh38.p7) (7p22.1)
AD
GWASdb2
1   publication(s)
See rs on genome
50 Enhancers around
19 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.6275135T>C
GRCh37.p13 chr 7NC_000007.13:g.6314766T>C
CYTH3 RefSeqGeneNG_029882.1:g.2477A>G

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.006C=0.994
1000GenomesAmericanSub694T=0.090C=0.910
1000GenomesEast AsianSub1008T=0.000C=1.000
1000GenomesEuropeSub1006T=0.130C=0.870
1000GenomesGlobalStudy-wide5008T=0.043C=0.957
1000GenomesSouth AsianSub978T=0.020C=0.980
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.128C=0.872
The Genome Aggregation DatabaseAfricanSub8730T=0.021C=0.979
The Genome Aggregation DatabaseAmericanSub838T=0.070C=0.930
The Genome Aggregation DatabaseEast AsianSub1622T=0.001C=0.999
The Genome Aggregation DatabaseEuropeSub18490T=0.107C=0.892
The Genome Aggregation DatabaseGlobalStudy-wide29982T=0.074C=0.925
The Genome Aggregation DatabaseOtherSub302T=0.050C=0.950
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.066C=0.934
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.135C=0.865
PMID Title Author Journal
21529783A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.Heath ACBiol Psychiatry

P-Value

SNP ID p-value Traits Study
rs47247936E-05alcoholism (heaviness of drinking)21529783

eQTL of rs4724793 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 rs4724793 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 )
chr762656446266417E067-48349
chr762667176269181E067-45585
chr763128526313419E067-1347
chr762667176269181E068-45585
chr762961876297042E068-17724
chr762667176269181E069-45585
chr762720186272068E069-42698
chr762721006272150E069-42616
chr762734776273574E069-41192
chr762949726295022E069-19744
chr762950776295299E069-19467
chr763080656309055E069-5711
chr762667176269181E070-45585
chr762667176269181E071-45585
chr762879456288071E071-26695
chr762880926288627E071-26139
chr762886496288735E071-26031
chr762999676301189E071-13577
chr763080656309055E071-5711
chr763090696309422E071-5344
chr763100896310187E071-4579
chr763128526313419E071-1347
chr762656446266417E072-48349
chr762667176269181E072-45585
chr762719176272003E072-42763
chr762720186272068E072-42698
chr762721006272150E072-42616
chr763060996306402E072-8364
chr763064686306570E072-8196
chr763065956306757E072-8009
chr763067586306835E072-7931
chr762656446266417E073-48349
chr762667176269181E073-45585
chr762719176272003E073-42763
chr762720186272068E073-42698
chr762721006272150E073-42616
chr762722036272812E073-41954
chr762739326274051E073-40715
chr762865406287081E073-27685
chr762874606287518E073-27248
chr762875246287580E073-27186
chr762875846287645E073-27121
chr762999676301189E073-13577
chr762667176269181E074-45585
chr763090696309422E074-5344
chr763094996309578E074-5188
chr763624996363049E07447733
chr762667176269181E081-45585
chr763128526313419E081-1347
chr763624996363049E08147733









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr763101976312020E067-2746
chr763120996312841E067-1925
chr763101976312020E068-2746
chr763120996312841E068-1925
chr763101976312020E069-2746
chr763120996312841E069-1925
chr763101976312020E070-2746
chr763120996312841E070-1925
chr763101976312020E071-2746
chr763120996312841E071-1925
chr763101976312020E072-2746
chr763120996312841E072-1925
chr763101976312020E073-2746
chr763120996312841E073-1925
chr763101976312020E074-2746
chr763120996312841E074-1925
chr763101976312020E081-2746
chr763101976312020E082-2746
chr763120996312841E082-1925