rs62115526

Homo sapiens
T>C
ZNF224 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0302 (35987/118962,ExAC)
T==0351 (10494/29880,GnomAD)
T==0421 (12263/29118,TOPMED)
C=0343 (4461/13006,GO-ESP)
T==0456 (2282/5008,1000G)
T==0159 (612/3854,ALSPAC)
T==0162 (602/3708,TWINSUK)
chr19:44100761 (GRCh38.p7) (19q13.31)
AD
GWASdb2
1   publication(s)
See rs on genome
13 Enhancers around
90 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 19NC_000019.10:g.44100761T>C
GRCh37.p13 chr 19NC_000019.9:g.44604914T>C

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/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.735C=0.265
1000GenomesAmericanSub694T=0.490C=0.510
1000GenomesEast AsianSub1008T=0.476C=0.524
1000GenomesEuropeSub1006T=0.193C=0.807
1000GenomesGlobalStudy-wide5008T=0.456C=0.544
1000GenomesSouth AsianSub978T=0.300C=0.700
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.159C=0.841
The Exome Aggregation ConsortiumAmericanSub21914T=0.597C=0.403
The Exome Aggregation ConsortiumAsianSub23518T=0.366C=0.633
The Exome Aggregation ConsortiumEuropeSub72654T=0.193C=0.806
The Exome Aggregation ConsortiumGlobalStudy-wide118962T=0.302C=0.697
The Exome Aggregation ConsortiumOtherSub876T=0.260C=0.740
The Genome Aggregation DatabaseAfricanSub8682T=0.650C=0.350
The Genome Aggregation DatabaseAmericanSub836T=0.500C=0.500
The Genome Aggregation DatabaseEast AsianSub1610T=0.453C=0.547
The Genome Aggregation DatabaseEuropeSub18450T=0.196C=0.803
The Genome Aggregation DatabaseGlobalStudy-wide29880T=0.351C=0.648
The Genome Aggregation DatabaseOtherSub302T=0.240C=0.760
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.421C=0.578
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.162C=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
rs621155266.42E-05alcohol consumption23743675

eQTL of rs62115526 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr19:44604914ZNF284ENSG00000186026.6T>C6.4241e-428617Cerebellum
Chr19:44604914ZNF284ENSG00000186026.6T>C8.0274e-428617Cerebellar_Hemisphere

meQTL of rs62115526 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 )
chr194455748644557536E067-47378
chr194455748644557536E068-47378
chr194461888344619034E06813969
chr194460014844600194E069-4720
chr194455793344557994E070-46920
chr194460014844600194E070-4720
chr194461888344619034E07013969
chr194461903744619091E07014123
chr194461912544619165E07014211
chr194461888344619034E07113969
chr194455748644557536E081-47378
chr194455748644557536E082-47378
chr194460081644600930E082-3984







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr194455494844556685E067-48229
chr194455673144556943E067-47971
chr194457541944575610E067-29304
chr194457564244577153E067-27761
chr194459804744599722E067-5192
chr194461592544616789E06711011
chr194461680644618482E06711892
chr194464488144646741E06739967
chr194455494844556685E068-48229
chr194455673144556943E068-47971
chr194457541944575610E068-29304
chr194457564244577153E068-27761
chr194459781244597885E068-7029
chr194459793544597989E068-6925
chr194459804744599722E068-5192
chr194461578744615827E06810873
chr194461592544616789E06811011
chr194461680644618482E06811892
chr194464474344644803E06839829
chr194464488144646741E06839967
chr194455494844556685E069-48229
chr194455673144556943E069-47971
chr194457541944575610E069-29304
chr194457564244577153E069-27761
chr194459804744599722E069-5192
chr194461578744615827E06910873
chr194461592544616789E06911011
chr194461680644618482E06911892
chr194464488144646741E06939967
chr194455494844556685E070-48229
chr194455673144556943E070-47971
chr194457541944575610E070-29304
chr194457564244577153E070-27761
chr194459804744599722E070-5192
chr194461592544616789E07011011
chr194461680644618482E07011892
chr194464474344644803E07039829
chr194464488144646741E07039967
chr194455494844556685E071-48229
chr194455673144556943E071-47971
chr194457541944575610E071-29304
chr194457564244577153E071-27761
chr194459804744599722E071-5192
chr194461578744615827E07110873
chr194461592544616789E07111011
chr194461680644618482E07111892
chr194464474344644803E07139829
chr194464488144646741E07139967
chr194455494844556685E072-48229
chr194455673144556943E072-47971
chr194457541944575610E072-29304
chr194457564244577153E072-27761
chr194459804744599722E072-5192
chr194461592544616789E07211011
chr194461680644618482E07211892
chr194464474344644803E07239829
chr194464488144646741E07239967
chr194455494844556685E073-48229
chr194455673144556943E073-47971
chr194457541944575610E073-29304
chr194457564244577153E073-27761
chr194459804744599722E073-5192
chr194461592544616789E07311011
chr194461680644618482E07311892
chr194464488144646741E07339967
chr194455494844556685E074-48229
chr194455673144556943E074-47971
chr194457541944575610E074-29304
chr194457564244577153E074-27761
chr194459804744599722E074-5192
chr194461592544616789E07411011
chr194461680644618482E07411892
chr194464488144646741E07439967
chr194455494844556685E081-48229
chr194455673144556943E081-47971
chr194457541944575610E081-29304
chr194457564244577153E081-27761
chr194459804744599722E081-5192
chr194461592544616789E08111011
chr194461680644618482E08111892
chr194464488144646741E08139967
chr194455494844556685E082-48229
chr194455673144556943E082-47971
chr194457541944575610E082-29304
chr194457564244577153E082-27761
chr194459804744599722E082-5192
chr194461592544616789E08211011
chr194461680644618482E08211892
chr194464474344644803E08239829
chr194464488144646741E08239967