rs3200505

Homo sapiens
A>T
ZNF224 : Synonymous Variant
LOC100379224 : Non Coding Transcript Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0289 (35111/121360,ExAC)
A==0317 (9346/29446,GnomAD)
A==0368 (10733/29118,TOPMED)
T=0304 (3955/13002,GO-ESP)
A==0415 (2076/5008,1000G)
A==0159 (611/3854,ALSPAC)
A==0162 (601/3708,TWINSUK)
chr19:44107861 (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.44107861A>T
GRCh37.p13 chr 19NC_000019.9:g.44612014A>T

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

Molecule type Change Amino acid[Codon] SO Term
ZNF224 transcriptNM_013398.3:c.170...NM_013398.3:c.1701A>TP [CCA]> P [CCT]Coding Sequence Variant
zinc finger protein 224NP_037530.2:p.Pro...NP_037530.2:p.Pro567=P [Pro]> P [Pro]Synonymous Variant
ZNF224 transcriptNM_001321645.1:c....NM_001321645.1:c.1701A>TP [CCA]> P [CCT]Coding Sequence Variant
zinc finger protein 224NP_001308574.1:p....NP_001308574.1:p.Pro567=P [Pro]> P [Pro]Synonymous Variant
ZNF224 transcript variant X1XM_017027261.1:c....XM_017027261.1:c.1701A>TP [CCA]> P [CCT]Coding Sequence Variant
zinc finger protein 224 isoform X1XP_016882750.1:p....XP_016882750.1:p.Pro567=P [Pro]> P [Pro]Synonymous Variant

Gene: LOC100379224, uncharacterized LOC100379224(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC100379224 transcriptNR_033341.1:n.839T>AT>ANon Coding Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.592T=0.408
1000GenomesAmericanSub694A=0.490T=0.510
1000GenomesEast AsianSub1008A=0.463T=0.537
1000GenomesEuropeSub1006A=0.187T=0.813
1000GenomesGlobalStudy-wide5008A=0.415T=0.585
1000GenomesSouth AsianSub978A=0.310T=0.690
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.159T=0.841
The Exome Aggregation ConsortiumAmericanSub21966A=0.538T=0.461
The Exome Aggregation ConsortiumAsianSub25154A=0.365T=0.634
The Exome Aggregation ConsortiumEuropeSub73332A=0.188T=0.811
The Exome Aggregation ConsortiumGlobalStudy-wide121360A=0.289T=0.710
The Exome Aggregation ConsortiumOtherSub908A=0.250T=0.750
The Genome Aggregation DatabaseAfricanSub8572A=0.547T=0.453
The Genome Aggregation DatabaseAmericanSub824A=0.500T=0.500
The Genome Aggregation DatabaseEast AsianSub1582A=0.450T=0.550
The Genome Aggregation DatabaseEuropeSub18170A=0.191T=0.809
The Genome Aggregation DatabaseGlobalStudy-wide29446A=0.317T=0.682
The Genome Aggregation DatabaseOtherSub298A=0.220T=0.780
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.368T=0.631
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.162T=0.838
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
rs32005056.73E-05alcohol consumption23743675

eQTL of rs3200505 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 rs3200505 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 )
chr194461888344619034E0686869
chr194460014844600194E069-11820
chr194460014844600194E070-11820
chr194461888344619034E0706869
chr194461903744619091E0707023
chr194461912544619165E0707111
chr194461888344619034E0716869
chr194460081644600930E082-11084





Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr194457541944575610E067-36404
chr194457564244577153E067-34861
chr194459804744599722E067-12292
chr194461592544616789E0673911
chr194461680644618482E0674792
chr194464488144646741E06732867
chr194457541944575610E068-36404
chr194457564244577153E068-34861
chr194459781244597885E068-14129
chr194459793544597989E068-14025
chr194459804744599722E068-12292
chr194461578744615827E0683773
chr194461592544616789E0683911
chr194461680644618482E0684792
chr194464474344644803E06832729
chr194464488144646741E06832867
chr194457541944575610E069-36404
chr194457564244577153E069-34861
chr194459804744599722E069-12292
chr194461578744615827E0693773
chr194461592544616789E0693911
chr194461680644618482E0694792
chr194464488144646741E06932867
chr194457541944575610E070-36404
chr194457564244577153E070-34861
chr194459804744599722E070-12292
chr194461592544616789E0703911
chr194461680644618482E0704792
chr194464474344644803E07032729
chr194464488144646741E07032867
chr194457541944575610E071-36404
chr194457564244577153E071-34861
chr194459804744599722E071-12292
chr194461578744615827E0713773
chr194461592544616789E0713911
chr194461680644618482E0714792
chr194464474344644803E07132729
chr194464488144646741E07132867
chr194457541944575610E072-36404
chr194457564244577153E072-34861
chr194459804744599722E072-12292
chr194461592544616789E0723911
chr194461680644618482E0724792
chr194464474344644803E07232729
chr194464488144646741E07232867
chr194457541944575610E073-36404
chr194457564244577153E073-34861
chr194459804744599722E073-12292
chr194461592544616789E0733911
chr194461680644618482E0734792
chr194464488144646741E07332867
chr194457541944575610E074-36404
chr194457564244577153E074-34861
chr194459804744599722E074-12292
chr194461592544616789E0743911
chr194461680644618482E0744792
chr194464488144646741E07432867
chr194457541944575610E081-36404
chr194457564244577153E081-34861
chr194459804744599722E081-12292
chr194461592544616789E0813911
chr194461680644618482E0814792
chr194464488144646741E08132867
chr194457541944575610E082-36404
chr194457564244577153E082-34861
chr194459804744599722E082-12292
chr194461592544616789E0823911
chr194461680644618482E0824792
chr194464474344644803E08232729
chr194464488144646741E08232867