rs4802204

Homo sapiens
C>A
ZNF224 : 2KB Upstream Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0354 (10571/29794,GnomAD)
C==0424 (12371/29118,TOPMED)
C==0460 (2302/5008,1000G)
C==0159 (614/3854,ALSPAC)
C==0160 (595/3708,TWINSUK)
chr19:44093142 (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.44093142C>A
GRCh37.p13 chr 19NC_000019.9:g.44597295C>A

Gene: ZNF224, zinc finger protein 224(plus strand): 2KB Upstream Variant

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

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.744A=0.256
1000GenomesAmericanSub694C=0.490A=0.510
1000GenomesEast AsianSub1008C=0.474A=0.526
1000GenomesEuropeSub1006C=0.193A=0.807
1000GenomesGlobalStudy-wide5008C=0.460A=0.540
1000GenomesSouth AsianSub978C=0.310A=0.690
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.159A=0.841
The Genome Aggregation DatabaseAfricanSub8692C=0.659A=0.341
The Genome Aggregation DatabaseAmericanSub834C=0.500A=0.500
The Genome Aggregation DatabaseEast AsianSub1612C=0.456A=0.544
The Genome Aggregation DatabaseEuropeSub18356C=0.197A=0.802
The Genome Aggregation DatabaseGlobalStudy-wide29794C=0.354A=0.645
The Genome Aggregation DatabaseOtherSub300C=0.230A=0.770
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.424A=0.575
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.160A=0.840
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
rs48022047.92E-05alcohol consumption23743675

eQTL of rs4802204 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr19:44597295ZNF284ENSG00000186026.6C>A6.4241e-420998Cerebellum
Chr19:44597295ZNF284ENSG00000186026.6C>A8.0274e-420998Cerebellar_Hemisphere

meQTL of rs4802204 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 )
chr194455748644557536E067-39759
chr194455748644557536E068-39759
chr194461888344619034E06821588
chr194460014844600194E0692853
chr194455793344557994E070-39301
chr194460014844600194E0702853
chr194461888344619034E07021588
chr194461903744619091E07021742
chr194461912544619165E07021830
chr194461888344619034E07121588
chr194455748644557536E081-39759
chr194455748644557536E082-39759
chr194460081644600930E0823521







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr194455479344554904E067-42391
chr194455494844556685E067-40610
chr194455673144556943E067-40352
chr194457541944575610E067-21685
chr194457564244577153E067-20142
chr194459804744599722E067752
chr194461592544616789E06718630
chr194461680644618482E06719511
chr194464488144646741E06747586
chr194455494844556685E068-40610
chr194455673144556943E068-40352
chr194457541944575610E068-21685
chr194457564244577153E068-20142
chr194459781244597885E068517
chr194459793544597989E068640
chr194459804744599722E068752
chr194461578744615827E06818492
chr194461592544616789E06818630
chr194461680644618482E06819511
chr194464474344644803E06847448
chr194464488144646741E06847586
chr194455494844556685E069-40610
chr194455673144556943E069-40352
chr194457541944575610E069-21685
chr194457564244577153E069-20142
chr194459804744599722E069752
chr194461578744615827E06918492
chr194461592544616789E06918630
chr194461680644618482E06919511
chr194464488144646741E06947586
chr194455494844556685E070-40610
chr194455673144556943E070-40352
chr194457541944575610E070-21685
chr194457564244577153E070-20142
chr194459804744599722E070752
chr194461592544616789E07018630
chr194461680644618482E07019511
chr194464474344644803E07047448
chr194464488144646741E07047586
chr194455494844556685E071-40610
chr194455673144556943E071-40352
chr194457541944575610E071-21685
chr194457564244577153E071-20142
chr194459804744599722E071752
chr194461578744615827E07118492
chr194461592544616789E07118630
chr194461680644618482E07119511
chr194464474344644803E07147448
chr194464488144646741E07147586
chr194455494844556685E072-40610
chr194455673144556943E072-40352
chr194457541944575610E072-21685
chr194457564244577153E072-20142
chr194459804744599722E072752
chr194461592544616789E07218630
chr194461680644618482E07219511
chr194464474344644803E07247448
chr194464488144646741E07247586
chr194455494844556685E073-40610
chr194455673144556943E073-40352
chr194457541944575610E073-21685
chr194457564244577153E073-20142
chr194459804744599722E073752
chr194461592544616789E07318630
chr194461680644618482E07319511
chr194464488144646741E07347586
chr194455494844556685E074-40610
chr194455673144556943E074-40352
chr194457541944575610E074-21685
chr194457564244577153E074-20142
chr194459804744599722E074752
chr194461592544616789E07418630
chr194461680644618482E07419511
chr194464488144646741E07447586
chr194455494844556685E081-40610
chr194455673144556943E081-40352
chr194457541944575610E081-21685
chr194457564244577153E081-20142
chr194459804744599722E081752
chr194461592544616789E08118630
chr194461680644618482E08119511
chr194464488144646741E08147586
chr194455494844556685E082-40610
chr194455673144556943E082-40352
chr194457541944575610E082-21685
chr194457564244577153E082-20142
chr194459804744599722E082752
chr194461592544616789E08218630
chr194461680644618482E08219511
chr194464474344644803E08247448
chr194464488144646741E08247586