rs7250004

Homo sapiens
A>G
ZNF224 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0242 (7256/29928,GnomAD)
A==0288 (8398/29118,TOPMED)
A==0351 (1756/5008,1000G)
A==0123 (473/3854,ALSPAC)
A==0123 (456/3708,TWINSUK)
chr19:44098839 (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.44098839A>G
GRCh37.p13 chr 19NC_000019.9:g.44602992A>G

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
1000GenomesAfricanSub1322A=0.455G=0.545
1000GenomesAmericanSub694A=0.450G=0.550
1000GenomesEast AsianSub1008A=0.475G=0.525
1000GenomesEuropeSub1006A=0.142G=0.858
1000GenomesGlobalStudy-wide5008A=0.351G=0.649
1000GenomesSouth AsianSub978A=0.230G=0.770
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.123G=0.877
The Genome Aggregation DatabaseAfricanSub8724A=0.388G=0.612
The Genome Aggregation DatabaseAmericanSub838A=0.460G=0.540
The Genome Aggregation DatabaseEast AsianSub1614A=0.453G=0.547
The Genome Aggregation DatabaseEuropeSub18450A=0.146G=0.853
The Genome Aggregation DatabaseGlobalStudy-wide29928A=0.242G=0.757
The Genome Aggregation DatabaseOtherSub302A=0.200G=0.800
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.288G=0.711
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.123G=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
rs72500048.31E-05alcohol consumption23743675

eQTL of rs7250004 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 rs7250004 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 )
chr194455748644557536E067-45456
chr194455748644557536E068-45456
chr194461888344619034E06815891
chr194460014844600194E069-2798
chr194455793344557994E070-44998
chr194460014844600194E070-2798
chr194461888344619034E07015891
chr194461903744619091E07016045
chr194461912544619165E07016133
chr194461888344619034E07115891
chr194455748644557536E081-45456
chr194455748644557536E082-45456
chr194460081644600930E082-2062







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr194455479344554904E067-48088
chr194455494844556685E067-46307
chr194455673144556943E067-46049
chr194457541944575610E067-27382
chr194457564244577153E067-25839
chr194459804744599722E067-3270
chr194461592544616789E06712933
chr194461680644618482E06713814
chr194464488144646741E06741889
chr194455494844556685E068-46307
chr194455673144556943E068-46049
chr194457541944575610E068-27382
chr194457564244577153E068-25839
chr194459781244597885E068-5107
chr194459793544597989E068-5003
chr194459804744599722E068-3270
chr194461578744615827E06812795
chr194461592544616789E06812933
chr194461680644618482E06813814
chr194464474344644803E06841751
chr194464488144646741E06841889
chr194455494844556685E069-46307
chr194455673144556943E069-46049
chr194457541944575610E069-27382
chr194457564244577153E069-25839
chr194459804744599722E069-3270
chr194461578744615827E06912795
chr194461592544616789E06912933
chr194461680644618482E06913814
chr194464488144646741E06941889
chr194455494844556685E070-46307
chr194455673144556943E070-46049
chr194457541944575610E070-27382
chr194457564244577153E070-25839
chr194459804744599722E070-3270
chr194461592544616789E07012933
chr194461680644618482E07013814
chr194464474344644803E07041751
chr194464488144646741E07041889
chr194455494844556685E071-46307
chr194455673144556943E071-46049
chr194457541944575610E071-27382
chr194457564244577153E071-25839
chr194459804744599722E071-3270
chr194461578744615827E07112795
chr194461592544616789E07112933
chr194461680644618482E07113814
chr194464474344644803E07141751
chr194464488144646741E07141889
chr194455494844556685E072-46307
chr194455673144556943E072-46049
chr194457541944575610E072-27382
chr194457564244577153E072-25839
chr194459804744599722E072-3270
chr194461592544616789E07212933
chr194461680644618482E07213814
chr194464474344644803E07241751
chr194464488144646741E07241889
chr194455494844556685E073-46307
chr194455673144556943E073-46049
chr194457541944575610E073-27382
chr194457564244577153E073-25839
chr194459804744599722E073-3270
chr194461592544616789E07312933
chr194461680644618482E07313814
chr194464488144646741E07341889
chr194455494844556685E074-46307
chr194455673144556943E074-46049
chr194457541944575610E074-27382
chr194457564244577153E074-25839
chr194459804744599722E074-3270
chr194461592544616789E07412933
chr194461680644618482E07413814
chr194464488144646741E07441889
chr194455494844556685E081-46307
chr194455673144556943E081-46049
chr194457541944575610E081-27382
chr194457564244577153E081-25839
chr194459804744599722E081-3270
chr194461592544616789E08112933
chr194461680644618482E08113814
chr194464488144646741E08141889
chr194455494844556685E082-46307
chr194455673144556943E082-46049
chr194457541944575610E082-27382
chr194457564244577153E082-25839
chr194459804744599722E082-3270
chr194461592544616789E08212933
chr194461680644618482E08213814
chr194464474344644803E08241751
chr194464488144646741E08241889