rs4729043

Homo sapiens
G>A
GATAD1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0055 (1659/29964,GnomAD)
A=0068 (1986/29118,TOPMED)
A=0104 (522/5008,1000G)
A=0017 (64/3854,ALSPAC)
A=0019 (70/3708,TWINSUK)
chr7:92448402 (GRCh38.p7) (7q21.2)
AD
GWASdb2
1   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.92448402G>A
GRCh37.p13 chr 7NC_000007.13:g.92077716G>A
GATAD1 RefSeqGeneNG_032807.1:g.5955G>A

Gene: GATAD1, GATA zinc finger domain containing 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
GATAD1 transcript variant 1NM_021167.4:c.N/AIntron Variant
GATAD1 transcript variant 2NR_052016.1:n.N/AIntron Variant
GATAD1 transcript variant X1XR_001744842.1:n.N/AIntron Variant
GATAD1 transcript variant X2XR_001744843.1:n.N/AIntron Variant
GATAD1 transcript variant X3XR_927494.2:n.N/AIntron Variant
GATAD1 transcript variant X4XR_927500.2:n.N/AIntron Variant
GATAD1 transcript variant X5XR_927503.2:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.902A=0.098
1000GenomesAmericanSub694G=0.900A=0.100
1000GenomesEast AsianSub1008G=0.729A=0.271
1000GenomesEuropeSub1006G=0.981A=0.019
1000GenomesGlobalStudy-wide5008G=0.896A=0.104
1000GenomesSouth AsianSub978G=0.970A=0.030
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.983A=0.017
The Genome Aggregation DatabaseAfricanSub8714G=0.910A=0.090
The Genome Aggregation DatabaseAmericanSub838G=0.870A=0.130
The Genome Aggregation DatabaseEast AsianSub1616G=0.705A=0.295
The Genome Aggregation DatabaseEuropeSub18494G=0.985A=0.014
The Genome Aggregation DatabaseGlobalStudy-wide29964G=0.944A=0.055
The Genome Aggregation DatabaseOtherSub302G=0.920A=0.080
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.931A=0.068
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.981A=0.019
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs47290430.00051alcohol dependence20201924

eQTL of rs4729043 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr7:92077716RBM48ENSG00000127993.10G>A2.2782e-4-80371Hypothalamus

meQTL of rs4729043 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 )
chr79203200592033029E067-44687
chr79207844092078538E067724
chr79207855092078697E067834
chr79208159592081651E0673879
chr79205285292052924E068-24792
chr79205308092053378E068-24338
chr79202887892028932E072-48784
chr79203111592031204E072-46512
chr79205308092053378E072-24338
chr79205338792053473E072-24243
chr79207941892079493E0721702
chr79207844092078538E074724
chr79207855092078697E074834
chr79207844092078538E082724
chr79207855092078697E082834





Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr79205352692054372E067-23344
chr79207636692078352E0670
chr79205352692054372E068-23344
chr79207636692078352E0680
chr79205352692054372E069-23344
chr79207636692078352E0690
chr79205352692054372E070-23344
chr79207636692078352E0700
chr79205352692054372E071-23344
chr79207636692078352E0710
chr79205352692054372E072-23344
chr79207636692078352E0720
chr79205352692054372E073-23344
chr79207636692078352E0730
chr79205352692054372E074-23344
chr79207636692078352E0740
chr79205352692054372E081-23344
chr79207636692078352E0810
chr79205352692054372E082-23344
chr79207636692078352E0820