rs6509141

Homo sapiens
C>T
ZNF224 : 3 Prime UTR Variant
LOC100379224 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0135 (4045/29938,GnomAD)
C==0126 (3689/29118,TOPMED)
C==0191 (955/5008,1000G)
C==0114 (441/3854,ALSPAC)
C==0116 (429/3708,TWINSUK)
chr19:44108966 (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.44108966C>T
GRCh37.p13 chr 19NC_000019.9:g.44613119C>T

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

Molecule type Change Amino acid[Codon] SO Term
ZNF224 transcriptNM_013398.3:c.N/A3 Prime UTR Variant
ZNF224 transcriptNM_001321645.1:c.N/A3 Prime UTR Variant
ZNF224 transcript variant X1XM_017027261.1:c.N/A3 Prime UTR Variant

Gene: LOC100379224, uncharacterized LOC100379224(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC100379224 transcriptNR_033341.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.070T=0.930
1000GenomesAmericanSub694C=0.250T=0.750
1000GenomesEast AsianSub1008C=0.381T=0.619
1000GenomesEuropeSub1006C=0.119T=0.881
1000GenomesGlobalStudy-wide5008C=0.191T=0.809
1000GenomesSouth AsianSub978C=0.190T=0.810
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.114T=0.886
The Genome Aggregation DatabaseAfricanSub8730C=0.087T=0.913
The Genome Aggregation DatabaseAmericanSub834C=0.240T=0.760
The Genome Aggregation DatabaseEast AsianSub1606C=0.381T=0.619
The Genome Aggregation DatabaseEuropeSub18466C=0.131T=0.868
The Genome Aggregation DatabaseGlobalStudy-wide29938C=0.135T=0.864
The Genome Aggregation DatabaseOtherSub302C=0.170T=0.830
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.126T=0.873
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=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
rs65091418.71E-05alcohol consumption23743675

eQTL of rs6509141 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 rs6509141 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 )
chr194461888344619034E0685764
chr194460014844600194E069-12925
chr194460014844600194E070-12925
chr194461888344619034E0705764
chr194461903744619091E0705918
chr194461912544619165E0706006
chr194461888344619034E0715764
chr194460081644600930E082-12189





Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr194457541944575610E067-37509
chr194457564244577153E067-35966
chr194459804744599722E067-13397
chr194461592544616789E0672806
chr194461680644618482E0673687
chr194464488144646741E06731762
chr194457541944575610E068-37509
chr194457564244577153E068-35966
chr194459781244597885E068-15234
chr194459793544597989E068-15130
chr194459804744599722E068-13397
chr194461578744615827E0682668
chr194461592544616789E0682806
chr194461680644618482E0683687
chr194464474344644803E06831624
chr194464488144646741E06831762
chr194457541944575610E069-37509
chr194457564244577153E069-35966
chr194459804744599722E069-13397
chr194461578744615827E0692668
chr194461592544616789E0692806
chr194461680644618482E0693687
chr194464488144646741E06931762
chr194457541944575610E070-37509
chr194457564244577153E070-35966
chr194459804744599722E070-13397
chr194461592544616789E0702806
chr194461680644618482E0703687
chr194464474344644803E07031624
chr194464488144646741E07031762
chr194457541944575610E071-37509
chr194457564244577153E071-35966
chr194459804744599722E071-13397
chr194461578744615827E0712668
chr194461592544616789E0712806
chr194461680644618482E0713687
chr194464474344644803E07131624
chr194464488144646741E07131762
chr194457541944575610E072-37509
chr194457564244577153E072-35966
chr194459804744599722E072-13397
chr194461592544616789E0722806
chr194461680644618482E0723687
chr194464474344644803E07231624
chr194464488144646741E07231762
chr194457541944575610E073-37509
chr194457564244577153E073-35966
chr194459804744599722E073-13397
chr194461592544616789E0732806
chr194461680644618482E0733687
chr194464488144646741E07331762
chr194457541944575610E074-37509
chr194457564244577153E074-35966
chr194459804744599722E074-13397
chr194461592544616789E0742806
chr194461680644618482E0743687
chr194464488144646741E07431762
chr194457541944575610E081-37509
chr194457564244577153E081-35966
chr194459804744599722E081-13397
chr194461592544616789E0812806
chr194461680644618482E0813687
chr194464488144646741E08131762
chr194457541944575610E082-37509
chr194457564244577153E082-35966
chr194459804744599722E082-13397
chr194461592544616789E0822806
chr194461680644618482E0823687
chr194464474344644803E08231624
chr194464488144646741E08231762