rs7250005

Homo sapiens
C>T
ZNF224 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0254 (7603/29910,GnomAD)
C==0305 (8885/29118,TOPMED)
C==0361 (1809/5008,1000G)
C==0123 (473/3854,ALSPAC)
C==0124 (458/3708,TWINSUK)
chr19:44098806 (GRCh38.p7) (19q13.31)
AD
GWASdb2
1   publication(s)
See rs on genome
13 Enhancers around
91 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 19NC_000019.10:g.44098806C>T
GRCh37.p13 chr 19NC_000019.9:g.44602959C>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=0.492T=0.508
1000GenomesAmericanSub694C=0.450T=0.550
1000GenomesEast AsianSub1008C=0.475T=0.525
1000GenomesEuropeSub1006C=0.142T=0.858
1000GenomesGlobalStudy-wide5008C=0.361T=0.639
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 DatabaseAfricanSub8708C=0.428T=0.572
The Genome Aggregation DatabaseAmericanSub838C=0.460T=0.540
The Genome Aggregation DatabaseEast AsianSub1610C=0.450T=0.550
The Genome Aggregation DatabaseEuropeSub18452C=0.146T=0.853
The Genome Aggregation DatabaseGlobalStudy-wide29910C=0.254T=0.745
The Genome Aggregation DatabaseOtherSub302C=0.200T=0.800
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.305T=0.694
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.124T=0.876
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
rs72500059.83E-05alcohol consumption23743675

eQTL of rs7250005 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 rs7250005 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 )
chr194455748644557536E067-45423
chr194455748644557536E068-45423
chr194461888344619034E06815924
chr194460014844600194E069-2765
chr194455793344557994E070-44965
chr194460014844600194E070-2765
chr194461888344619034E07015924
chr194461903744619091E07016078
chr194461912544619165E07016166
chr194461888344619034E07115924
chr194455748644557536E081-45423
chr194455748644557536E082-45423
chr194460081644600930E082-2029







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr194455479344554904E067-48055
chr194455494844556685E067-46274
chr194455673144556943E067-46016
chr194457541944575610E067-27349
chr194457564244577153E067-25806
chr194459804744599722E067-3237
chr194461592544616789E06712966
chr194461680644618482E06713847
chr194464488144646741E06741922
chr194455494844556685E068-46274
chr194455673144556943E068-46016
chr194457541944575610E068-27349
chr194457564244577153E068-25806
chr194459781244597885E068-5074
chr194459793544597989E068-4970
chr194459804744599722E068-3237
chr194461578744615827E06812828
chr194461592544616789E06812966
chr194461680644618482E06813847
chr194464474344644803E06841784
chr194464488144646741E06841922
chr194455494844556685E069-46274
chr194455673144556943E069-46016
chr194457541944575610E069-27349
chr194457564244577153E069-25806
chr194459804744599722E069-3237
chr194461578744615827E06912828
chr194461592544616789E06912966
chr194461680644618482E06913847
chr194464488144646741E06941922
chr194455494844556685E070-46274
chr194455673144556943E070-46016
chr194457541944575610E070-27349
chr194457564244577153E070-25806
chr194459804744599722E070-3237
chr194461592544616789E07012966
chr194461680644618482E07013847
chr194464474344644803E07041784
chr194464488144646741E07041922
chr194455494844556685E071-46274
chr194455673144556943E071-46016
chr194457541944575610E071-27349
chr194457564244577153E071-25806
chr194459804744599722E071-3237
chr194461578744615827E07112828
chr194461592544616789E07112966
chr194461680644618482E07113847
chr194464474344644803E07141784
chr194464488144646741E07141922
chr194455494844556685E072-46274
chr194455673144556943E072-46016
chr194457541944575610E072-27349
chr194457564244577153E072-25806
chr194459804744599722E072-3237
chr194461592544616789E07212966
chr194461680644618482E07213847
chr194464474344644803E07241784
chr194464488144646741E07241922
chr194455494844556685E073-46274
chr194455673144556943E073-46016
chr194457541944575610E073-27349
chr194457564244577153E073-25806
chr194459804744599722E073-3237
chr194461592544616789E07312966
chr194461680644618482E07313847
chr194464488144646741E07341922
chr194455494844556685E074-46274
chr194455673144556943E074-46016
chr194457541944575610E074-27349
chr194457564244577153E074-25806
chr194459804744599722E074-3237
chr194461592544616789E07412966
chr194461680644618482E07413847
chr194464488144646741E07441922
chr194455494844556685E081-46274
chr194455673144556943E081-46016
chr194457541944575610E081-27349
chr194457564244577153E081-25806
chr194459804744599722E081-3237
chr194461592544616789E08112966
chr194461680644618482E08113847
chr194464488144646741E08141922
chr194455494844556685E082-46274
chr194455673144556943E082-46016
chr194457541944575610E082-27349
chr194457564244577153E082-25806
chr194459804744599722E082-3237
chr194461592544616789E08212966
chr194461680644618482E08213847
chr194464474344644803E08241784
chr194464488144646741E08241922