rs4239529

Homo sapiens
A>T
ZNF224 : Missense Variant
LOC100379224 : Non Coding Transcript Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0171 (19999/116804,ExAC)
A==0142 (4279/29996,GnomAD)
A==0136 (3966/29118,TOPMED)
T=0123 (1604/13006,GO-ESP)
A==0199 (997/5008,1000G)
A==0115 (444/3854,ALSPAC)
A==0116 (431/3708,TWINSUK)
chr19:44106645 (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.44106645A>T
GRCh37.p13 chr 19NC_000019.9:g.44610798A>T

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

Molecule type Change Amino acid[Codon] SO Term
ZNF224 transcriptNM_013398.3:c.485A>TH [CAC]> L [CTC]Coding Sequence Variant
zinc finger protein 224NP_037530.2:p.His...NP_037530.2:p.His162LeuH [His]> L [Leu]Missense Variant
ZNF224 transcriptNM_001321645.1:c....NM_001321645.1:c.485A>TH [CAC]> L [CTC]Coding Sequence Variant
zinc finger protein 224NP_001308574.1:p....NP_001308574.1:p.His162LeuH [His]> L [Leu]Missense Variant
ZNF224 transcript variant X1XM_017027261.1:c....XM_017027261.1:c.485A>TH [CAC]> L [CTC]Coding Sequence Variant
zinc finger protein 224 isoform X1XP_016882750.1:p....XP_016882750.1:p.His162LeuH [His]> L [Leu]Missense Variant

Gene: LOC100379224, uncharacterized LOC100379224(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC100379224 transcriptNR_033341.1:n.205...NR_033341.1:n.2055T>AT>ANon Coding Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.098T=0.902
1000GenomesAmericanSub694A=0.250T=0.750
1000GenomesEast AsianSub1008A=0.385T=0.615
1000GenomesEuropeSub1006A=0.120T=0.880
1000GenomesGlobalStudy-wide5008A=0.199T=0.801
1000GenomesSouth AsianSub978A=0.190T=0.810
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.115T=0.885
The Exome Aggregation ConsortiumAmericanSub21866A=0.190T=0.809
The Exome Aggregation ConsortiumAsianSub21858A=0.280T=0.719
The Exome Aggregation ConsortiumEuropeSub72216A=0.132T=0.867
The Exome Aggregation ConsortiumGlobalStudy-wide116804A=0.171T=0.828
The Exome Aggregation ConsortiumOtherSub864A=0.160T=0.840
The Genome Aggregation DatabaseAfricanSub8734A=0.111T=0.889
The Genome Aggregation DatabaseAmericanSub838A=0.250T=0.750
The Genome Aggregation DatabaseEast AsianSub1620A=0.386T=0.614
The Genome Aggregation DatabaseEuropeSub18502A=0.131T=0.868
The Genome Aggregation DatabaseGlobalStudy-wide29996A=0.142T=0.857
The Genome Aggregation DatabaseOtherSub302A=0.170T=0.830
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.136T=0.863
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.116T=0.884
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
rs42395290.000123alcohol consumption23743675

eQTL of rs4239529 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 rs4239529 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 )
chr194461888344619034E0688085
chr194460014844600194E069-10604
chr194460014844600194E070-10604
chr194461888344619034E0708085
chr194461903744619091E0708239
chr194461912544619165E0708327
chr194461888344619034E0718085
chr194460081644600930E082-9868





Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr194457541944575610E067-35188
chr194457564244577153E067-33645
chr194459804744599722E067-11076
chr194461592544616789E0675127
chr194461680644618482E0676008
chr194464488144646741E06734083
chr194457541944575610E068-35188
chr194457564244577153E068-33645
chr194459781244597885E068-12913
chr194459793544597989E068-12809
chr194459804744599722E068-11076
chr194461578744615827E0684989
chr194461592544616789E0685127
chr194461680644618482E0686008
chr194464474344644803E06833945
chr194464488144646741E06834083
chr194457541944575610E069-35188
chr194457564244577153E069-33645
chr194459804744599722E069-11076
chr194461578744615827E0694989
chr194461592544616789E0695127
chr194461680644618482E0696008
chr194464488144646741E06934083
chr194457541944575610E070-35188
chr194457564244577153E070-33645
chr194459804744599722E070-11076
chr194461592544616789E0705127
chr194461680644618482E0706008
chr194464474344644803E07033945
chr194464488144646741E07034083
chr194457541944575610E071-35188
chr194457564244577153E071-33645
chr194459804744599722E071-11076
chr194461578744615827E0714989
chr194461592544616789E0715127
chr194461680644618482E0716008
chr194464474344644803E07133945
chr194464488144646741E07134083
chr194457541944575610E072-35188
chr194457564244577153E072-33645
chr194459804744599722E072-11076
chr194461592544616789E0725127
chr194461680644618482E0726008
chr194464474344644803E07233945
chr194464488144646741E07234083
chr194457541944575610E073-35188
chr194457564244577153E073-33645
chr194459804744599722E073-11076
chr194461592544616789E0735127
chr194461680644618482E0736008
chr194464488144646741E07334083
chr194457541944575610E074-35188
chr194457564244577153E074-33645
chr194459804744599722E074-11076
chr194461592544616789E0745127
chr194461680644618482E0746008
chr194464488144646741E07434083
chr194457541944575610E081-35188
chr194457564244577153E081-33645
chr194459804744599722E081-11076
chr194461592544616789E0815127
chr194461680644618482E0816008
chr194464488144646741E08134083
chr194457541944575610E082-35188
chr194457564244577153E082-33645
chr194459804744599722E082-11076
chr194461592544616789E0825127
chr194461680644618482E0826008
chr194464474344644803E08233945
chr194464488144646741E08234083