rs3746321

Homo sapiens
A>G
ZNF224 : Synonymous Variant
LOC100379224 : Non Coding Transcript Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0289 (35138/121360,ExAC)
A==0318 (9349/29400,GnomAD)
A==0368 (10736/29118,TOPMED)
G=0304 (3958/13006,GO-ESP)
A==0415 (2079/5008,1000G)
A==0159 (611/3854,ALSPAC)
A==0162 (601/3708,TWINSUK)
chr19:44107852 (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.44107852A>G
GRCh37.p13 chr 19NC_000019.9:g.44612005A>G

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

Molecule type Change Amino acid[Codon] SO Term
ZNF224 transcriptNM_013398.3:c.169...NM_013398.3:c.1692A>GG [GGA]> G [GGG]Coding Sequence Variant
zinc finger protein 224NP_037530.2:p.Gly...NP_037530.2:p.Gly564=G [Gly]> G [Gly]Synonymous Variant
ZNF224 transcriptNM_001321645.1:c....NM_001321645.1:c.1692A>GG [GGA]> G [GGG]Coding Sequence Variant
zinc finger protein 224NP_001308574.1:p....NP_001308574.1:p.Gly564=G [Gly]> G [Gly]Synonymous Variant
ZNF224 transcript variant X1XM_017027261.1:c....XM_017027261.1:c.1692A>GG [GGA]> G [GGG]Coding Sequence Variant
zinc finger protein 224 isoform X1XP_016882750.1:p....XP_016882750.1:p.Gly564=G [Gly]> G [Gly]Synonymous Variant

Gene: LOC100379224, uncharacterized LOC100379224(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC100379224 transcriptNR_033341.1:n.848T>CT>CNon Coding Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.592G=0.408
1000GenomesAmericanSub694A=0.490G=0.510
1000GenomesEast AsianSub1008A=0.464G=0.536
1000GenomesEuropeSub1006A=0.187G=0.813
1000GenomesGlobalStudy-wide5008A=0.415G=0.585
1000GenomesSouth AsianSub978A=0.310G=0.690
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.159G=0.841
The Exome Aggregation ConsortiumAmericanSub21970A=0.538G=0.461
The Exome Aggregation ConsortiumAsianSub25144A=0.366G=0.633
The Exome Aggregation ConsortiumEuropeSub73338A=0.189G=0.811
The Exome Aggregation ConsortiumGlobalStudy-wide121360A=0.289G=0.710
The Exome Aggregation ConsortiumOtherSub908A=0.250G=0.750
The Genome Aggregation DatabaseAfricanSub8574A=0.546G=0.454
The Genome Aggregation DatabaseAmericanSub820A=0.500G=0.500
The Genome Aggregation DatabaseEast AsianSub1584A=0.453G=0.547
The Genome Aggregation DatabaseEuropeSub18122A=0.191G=0.808
The Genome Aggregation DatabaseGlobalStudy-wide29400A=0.318G=0.682
The Genome Aggregation DatabaseOtherSub300A=0.220G=0.780
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.368G=0.631
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.162G=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
rs37463216.64E-05alcohol consumption23743675

eQTL of rs3746321 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 rs3746321 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 )
chr194461888344619034E0686878
chr194460014844600194E069-11811
chr194460014844600194E070-11811
chr194461888344619034E0706878
chr194461903744619091E0707032
chr194461912544619165E0707120
chr194461888344619034E0716878
chr194460081644600930E082-11075





Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr194457541944575610E067-36395
chr194457564244577153E067-34852
chr194459804744599722E067-12283
chr194461592544616789E0673920
chr194461680644618482E0674801
chr194464488144646741E06732876
chr194457541944575610E068-36395
chr194457564244577153E068-34852
chr194459781244597885E068-14120
chr194459793544597989E068-14016
chr194459804744599722E068-12283
chr194461578744615827E0683782
chr194461592544616789E0683920
chr194461680644618482E0684801
chr194464474344644803E06832738
chr194464488144646741E06832876
chr194457541944575610E069-36395
chr194457564244577153E069-34852
chr194459804744599722E069-12283
chr194461578744615827E0693782
chr194461592544616789E0693920
chr194461680644618482E0694801
chr194464488144646741E06932876
chr194457541944575610E070-36395
chr194457564244577153E070-34852
chr194459804744599722E070-12283
chr194461592544616789E0703920
chr194461680644618482E0704801
chr194464474344644803E07032738
chr194464488144646741E07032876
chr194457541944575610E071-36395
chr194457564244577153E071-34852
chr194459804744599722E071-12283
chr194461578744615827E0713782
chr194461592544616789E0713920
chr194461680644618482E0714801
chr194464474344644803E07132738
chr194464488144646741E07132876
chr194457541944575610E072-36395
chr194457564244577153E072-34852
chr194459804744599722E072-12283
chr194461592544616789E0723920
chr194461680644618482E0724801
chr194464474344644803E07232738
chr194464488144646741E07232876
chr194457541944575610E073-36395
chr194457564244577153E073-34852
chr194459804744599722E073-12283
chr194461592544616789E0733920
chr194461680644618482E0734801
chr194464488144646741E07332876
chr194457541944575610E074-36395
chr194457564244577153E074-34852
chr194459804744599722E074-12283
chr194461592544616789E0743920
chr194461680644618482E0744801
chr194464488144646741E07432876
chr194457541944575610E081-36395
chr194457564244577153E081-34852
chr194459804744599722E081-12283
chr194461592544616789E0813920
chr194461680644618482E0814801
chr194464488144646741E08132876
chr194457541944575610E082-36395
chr194457564244577153E082-34852
chr194459804744599722E082-12283
chr194461592544616789E0823920
chr194461680644618482E0824801
chr194464474344644803E08232738
chr194464488144646741E08232876