rs4429390

Homo sapiens
T>G
ZNF224 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0210 (6278/29902,GnomAD)
T==0205 (5979/29118,TOPMED)
T==0265 (1329/5008,1000G)
T==0150 (580/3854,ALSPAC)
T==0155 (576/3708,TWINSUK)
chr19:44094715 (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.44094715T>G
GRCh37.p13 chr 19NC_000019.9:g.44598868T>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/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.233G=0.767
1000GenomesAmericanSub694T=0.280G=0.720
1000GenomesEast AsianSub1008T=0.393G=0.607
1000GenomesEuropeSub1006T=0.168G=0.832
1000GenomesGlobalStudy-wide5008T=0.265G=0.735
1000GenomesSouth AsianSub978T=0.270G=0.730
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.150G=0.850
The Genome Aggregation DatabaseAfricanSub8700T=0.231G=0.769
The Genome Aggregation DatabaseAmericanSub836T=0.280G=0.720
The Genome Aggregation DatabaseEast AsianSub1616T=0.397G=0.603
The Genome Aggregation DatabaseEuropeSub18448T=0.180G=0.819
The Genome Aggregation DatabaseGlobalStudy-wide29902T=0.210G=0.790
The Genome Aggregation DatabaseOtherSub302T=0.210G=0.790
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.205G=0.794
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.155G=0.845
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
rs44293900.000144alcohol consumption23743675

eQTL of rs4429390 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr19:44598868ZNF284ENSG00000186026.6T>G6.4241e-422571Cerebellum
Chr19:44598868ZNF284ENSG00000186026.6T>G8.0274e-422571Cerebellar_Hemisphere

meQTL of rs4429390 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 )
chr194455748644557536E067-41332
chr194455748644557536E068-41332
chr194461888344619034E06820015
chr194460014844600194E0691280
chr194455793344557994E070-40874
chr194460014844600194E0701280
chr194461888344619034E07020015
chr194461903744619091E07020169
chr194461912544619165E07020257
chr194461888344619034E07120015
chr194455748644557536E081-41332
chr194455748644557536E082-41332
chr194460081644600930E0821948







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr194455479344554904E067-43964
chr194455494844556685E067-42183
chr194455673144556943E067-41925
chr194457541944575610E067-23258
chr194457564244577153E067-21715
chr194459804744599722E0670
chr194461592544616789E06717057
chr194461680644618482E06717938
chr194464488144646741E06746013
chr194455494844556685E068-42183
chr194455673144556943E068-41925
chr194457541944575610E068-23258
chr194457564244577153E068-21715
chr194459781244597885E068-983
chr194459793544597989E068-879
chr194459804744599722E0680
chr194461578744615827E06816919
chr194461592544616789E06817057
chr194461680644618482E06817938
chr194464474344644803E06845875
chr194464488144646741E06846013
chr194455494844556685E069-42183
chr194455673144556943E069-41925
chr194457541944575610E069-23258
chr194457564244577153E069-21715
chr194459804744599722E0690
chr194461578744615827E06916919
chr194461592544616789E06917057
chr194461680644618482E06917938
chr194464488144646741E06946013
chr194455494844556685E070-42183
chr194455673144556943E070-41925
chr194457541944575610E070-23258
chr194457564244577153E070-21715
chr194459804744599722E0700
chr194461592544616789E07017057
chr194461680644618482E07017938
chr194464474344644803E07045875
chr194464488144646741E07046013
chr194455494844556685E071-42183
chr194455673144556943E071-41925
chr194457541944575610E071-23258
chr194457564244577153E071-21715
chr194459804744599722E0710
chr194461578744615827E07116919
chr194461592544616789E07117057
chr194461680644618482E07117938
chr194464474344644803E07145875
chr194464488144646741E07146013
chr194455494844556685E072-42183
chr194455673144556943E072-41925
chr194457541944575610E072-23258
chr194457564244577153E072-21715
chr194459804744599722E0720
chr194461592544616789E07217057
chr194461680644618482E07217938
chr194464474344644803E07245875
chr194464488144646741E07246013
chr194455494844556685E073-42183
chr194455673144556943E073-41925
chr194457541944575610E073-23258
chr194457564244577153E073-21715
chr194459804744599722E0730
chr194461592544616789E07317057
chr194461680644618482E07317938
chr194464488144646741E07346013
chr194455494844556685E074-42183
chr194455673144556943E074-41925
chr194457541944575610E074-23258
chr194457564244577153E074-21715
chr194459804744599722E0740
chr194461592544616789E07417057
chr194461680644618482E07417938
chr194464488144646741E07446013
chr194455494844556685E081-42183
chr194455673144556943E081-41925
chr194457541944575610E081-23258
chr194457564244577153E081-21715
chr194459804744599722E0810
chr194461592544616789E08117057
chr194461680644618482E08117938
chr194464488144646741E08146013
chr194455494844556685E082-42183
chr194455673144556943E082-41925
chr194457541944575610E082-23258
chr194457564244577153E082-21715
chr194459804744599722E0820
chr194461592544616789E08217057
chr194461680644618482E08217938
chr194464474344644803E08245875
chr194464488144646741E08246013