rs8113750

Homo sapiens
C>T
ZNF224 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0238 (7103/29738,GnomAD)
C==0279 (8137/29118,TOPMED)
C==0341 (1709/5008,1000G)
C==0123 (475/3854,ALSPAC)
C==0123 (456/3708,TWINSUK)
chr19:44104636 (GRCh38.p7) (19q13.31)
AD
GWASdb2
1   publication(s)
See rs on genome
8 Enhancers around
70 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 19NC_000019.10:g.44104636C>T
GRCh37.p13 chr 19NC_000019.9:g.44608789C>T

Gene: ZNF224, zinc finger protein 224(plus strand)

Molecule type Change Amino acid[Codon] SO Term
ZNF224 transcriptNM_001321645.1:c.N/AIntron Variant
ZNF224 transcriptNM_013398.3:c.N/AIntron Variant
ZNF224 transcript variant X1XM_017027261.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.430T=0.570
1000GenomesAmericanSub694C=0.430T=0.570
1000GenomesEast AsianSub1008C=0.466T=0.534
1000GenomesEuropeSub1006C=0.144T=0.856
1000GenomesGlobalStudy-wide5008C=0.341T=0.659
1000GenomesSouth AsianSub978C=0.230T=0.770
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.123T=0.877
The Genome Aggregation DatabaseAfricanSub8668C=0.379T=0.621
The Genome Aggregation DatabaseAmericanSub828C=0.450T=0.550
The Genome Aggregation DatabaseEast AsianSub1606C=0.448T=0.552
The Genome Aggregation DatabaseEuropeSub18334C=0.145T=0.854
The Genome Aggregation DatabaseGlobalStudy-wide29738C=0.238T=0.761
The Genome Aggregation DatabaseOtherSub302C=0.190T=0.810
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.279T=0.720
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.123T=0.877
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
rs81137500.000114alcohol consumption23743675

eQTL of rs8113750 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 rs8113750 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 )
chr194461888344619034E06810094
chr194460014844600194E069-8595
chr194460014844600194E070-8595
chr194461888344619034E07010094
chr194461903744619091E07010248
chr194461912544619165E07010336
chr194461888344619034E07110094
chr194460081644600930E082-7859





Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr194457541944575610E067-33179
chr194457564244577153E067-31636
chr194459804744599722E067-9067
chr194461592544616789E0677136
chr194461680644618482E0678017
chr194464488144646741E06736092
chr194457541944575610E068-33179
chr194457564244577153E068-31636
chr194459781244597885E068-10904
chr194459793544597989E068-10800
chr194459804744599722E068-9067
chr194461578744615827E0686998
chr194461592544616789E0687136
chr194461680644618482E0688017
chr194464474344644803E06835954
chr194464488144646741E06836092
chr194457541944575610E069-33179
chr194457564244577153E069-31636
chr194459804744599722E069-9067
chr194461578744615827E0696998
chr194461592544616789E0697136
chr194461680644618482E0698017
chr194464488144646741E06936092
chr194457541944575610E070-33179
chr194457564244577153E070-31636
chr194459804744599722E070-9067
chr194461592544616789E0707136
chr194461680644618482E0708017
chr194464474344644803E07035954
chr194464488144646741E07036092
chr194457541944575610E071-33179
chr194457564244577153E071-31636
chr194459804744599722E071-9067
chr194461578744615827E0716998
chr194461592544616789E0717136
chr194461680644618482E0718017
chr194464474344644803E07135954
chr194464488144646741E07136092
chr194457541944575610E072-33179
chr194457564244577153E072-31636
chr194459804744599722E072-9067
chr194461592544616789E0727136
chr194461680644618482E0728017
chr194464474344644803E07235954
chr194464488144646741E07236092
chr194457541944575610E073-33179
chr194457564244577153E073-31636
chr194459804744599722E073-9067
chr194461592544616789E0737136
chr194461680644618482E0738017
chr194464488144646741E07336092
chr194457541944575610E074-33179
chr194457564244577153E074-31636
chr194459804744599722E074-9067
chr194461592544616789E0747136
chr194461680644618482E0748017
chr194464488144646741E07436092
chr194457541944575610E081-33179
chr194457564244577153E081-31636
chr194459804744599722E081-9067
chr194461592544616789E0817136
chr194461680644618482E0818017
chr194464488144646741E08136092
chr194457541944575610E082-33179
chr194457564244577153E082-31636
chr194459804744599722E082-9067
chr194461592544616789E0827136
chr194461680644618482E0828017
chr194464474344644803E08235954
chr194464488144646741E08236092