rs28446946

Homo sapiens
T>C
ZNF224 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0251 (7527/29968,GnomAD)
T==0300 (8751/29118,TOPMED)
T==0363 (1816/5008,1000G)
T==0123 (474/3854,ALSPAC)
T==0122 (453/3708,TWINSUK)
chr19:44103466 (GRCh38.p7) (19q13.31)
AD
GWASdb2
1   publication(s)
See rs on genome
9 Enhancers around
70 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 19NC_000019.10:g.44103466T>C
GRCh37.p13 chr 19NC_000019.9:g.44607619T>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=0.499C=0.501
1000GenomesAmericanSub694T=0.450C=0.550
1000GenomesEast AsianSub1008T=0.474C=0.526
1000GenomesEuropeSub1006T=0.143C=0.857
1000GenomesGlobalStudy-wide5008T=0.363C=0.637
1000GenomesSouth AsianSub978T=0.230C=0.770
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.123C=0.877
The Genome Aggregation DatabaseAfricanSub8714T=0.420C=0.580
The Genome Aggregation DatabaseAmericanSub838T=0.460C=0.540
The Genome Aggregation DatabaseEast AsianSub1614T=0.454C=0.546
The Genome Aggregation DatabaseEuropeSub18500T=0.145C=0.854
The Genome Aggregation DatabaseGlobalStudy-wide29968T=0.251C=0.748
The Genome Aggregation DatabaseOtherSub302T=0.190C=0.810
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.300C=0.699
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.122C=0.878
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
rs284469469.01E-05alcohol consumption23743675

eQTL of rs28446946 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 rs28446946 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 )
chr194461888344619034E06811264
chr194460014844600194E069-7425
chr194455793344557994E070-49625
chr194460014844600194E070-7425
chr194461888344619034E07011264
chr194461903744619091E07011418
chr194461912544619165E07011506
chr194461888344619034E07111264
chr194460081644600930E082-6689





Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr194457541944575610E067-32009
chr194457564244577153E067-30466
chr194459804744599722E067-7897
chr194461592544616789E0678306
chr194461680644618482E0679187
chr194464488144646741E06737262
chr194457541944575610E068-32009
chr194457564244577153E068-30466
chr194459781244597885E068-9734
chr194459793544597989E068-9630
chr194459804744599722E068-7897
chr194461578744615827E0688168
chr194461592544616789E0688306
chr194461680644618482E0689187
chr194464474344644803E06837124
chr194464488144646741E06837262
chr194457541944575610E069-32009
chr194457564244577153E069-30466
chr194459804744599722E069-7897
chr194461578744615827E0698168
chr194461592544616789E0698306
chr194461680644618482E0699187
chr194464488144646741E06937262
chr194457541944575610E070-32009
chr194457564244577153E070-30466
chr194459804744599722E070-7897
chr194461592544616789E0708306
chr194461680644618482E0709187
chr194464474344644803E07037124
chr194464488144646741E07037262
chr194457541944575610E071-32009
chr194457564244577153E071-30466
chr194459804744599722E071-7897
chr194461578744615827E0718168
chr194461592544616789E0718306
chr194461680644618482E0719187
chr194464474344644803E07137124
chr194464488144646741E07137262
chr194457541944575610E072-32009
chr194457564244577153E072-30466
chr194459804744599722E072-7897
chr194461592544616789E0728306
chr194461680644618482E0729187
chr194464474344644803E07237124
chr194464488144646741E07237262
chr194457541944575610E073-32009
chr194457564244577153E073-30466
chr194459804744599722E073-7897
chr194461592544616789E0738306
chr194461680644618482E0739187
chr194464488144646741E07337262
chr194457541944575610E074-32009
chr194457564244577153E074-30466
chr194459804744599722E074-7897
chr194461592544616789E0748306
chr194461680644618482E0749187
chr194464488144646741E07437262
chr194457541944575610E081-32009
chr194457564244577153E081-30466
chr194459804744599722E081-7897
chr194461592544616789E0818306
chr194461680644618482E0819187
chr194464488144646741E08137262
chr194457541944575610E082-32009
chr194457564244577153E082-30466
chr194459804744599722E082-7897
chr194461592544616789E0828306
chr194461680644618482E0829187
chr194464474344644803E08237124
chr194464488144646741E08237262