rs4459653

Homo sapiens
C>T
ZNF224 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0247 (7391/29910,GnomAD)
C==0263 (7658/29118,TOPMED)
C==0302 (1510/5008,1000G)
C==0151 (583/3854,ALSPAC)
C==0156 (579/3708,TWINSUK)
chr19:44095462 (GRCh38.p7) (19q13.31)
AD
GWASdb2
2   publication(s)
See rs on genome
13 Enhancers around
91 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 19NC_000019.10:g.44095462C>T
GRCh37.p13 chr 19NC_000019.9:g.44599615C>T

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/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.368T=0.632
1000GenomesAmericanSub694C=0.280T=0.720
1000GenomesEast AsianSub1008C=0.393T=0.607
1000GenomesEuropeSub1006C=0.169T=0.831
1000GenomesGlobalStudy-wide5008C=0.302T=0.698
1000GenomesSouth AsianSub978C=0.270T=0.730
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.151T=0.849
The Genome Aggregation DatabaseAfricanSub8688C=0.357T=0.643
The Genome Aggregation DatabaseAmericanSub836C=0.280T=0.720
The Genome Aggregation DatabaseEast AsianSub1608C=0.396T=0.604
The Genome Aggregation DatabaseEuropeSub18476C=0.181T=0.818
The Genome Aggregation DatabaseGlobalStudy-wide29910C=0.247T=0.752
The Genome Aggregation DatabaseOtherSub302C=0.210T=0.790
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.263T=0.737
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.156T=0.844
PMID Title Author Journal
19118814Genome-wide association study implicates a chromosome 12 risk locus for late-onset Alzheimer disease.Beecham GWAm J Hum Genet
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
rs44596530.000116alcohol consumption23743675

eQTL of rs4459653 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr19:44599615ZNF284ENSG00000186026.6C>T6.4241e-423318Cerebellum
Chr19:44599615ZNF284ENSG00000186026.6C>T8.0274e-423318Cerebellar_Hemisphere

meQTL of rs4459653 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 )
chr194455748644557536E067-42079
chr194455748644557536E068-42079
chr194461888344619034E06819268
chr194460014844600194E069533
chr194455793344557994E070-41621
chr194460014844600194E070533
chr194461888344619034E07019268
chr194461903744619091E07019422
chr194461912544619165E07019510
chr194461888344619034E07119268
chr194455748644557536E081-42079
chr194455748644557536E082-42079
chr194460081644600930E0821201







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr194455479344554904E067-44711
chr194455494844556685E067-42930
chr194455673144556943E067-42672
chr194457541944575610E067-24005
chr194457564244577153E067-22462
chr194459804744599722E0670
chr194461592544616789E06716310
chr194461680644618482E06717191
chr194464488144646741E06745266
chr194455494844556685E068-42930
chr194455673144556943E068-42672
chr194457541944575610E068-24005
chr194457564244577153E068-22462
chr194459781244597885E068-1730
chr194459793544597989E068-1626
chr194459804744599722E0680
chr194461578744615827E06816172
chr194461592544616789E06816310
chr194461680644618482E06817191
chr194464474344644803E06845128
chr194464488144646741E06845266
chr194455494844556685E069-42930
chr194455673144556943E069-42672
chr194457541944575610E069-24005
chr194457564244577153E069-22462
chr194459804744599722E0690
chr194461578744615827E06916172
chr194461592544616789E06916310
chr194461680644618482E06917191
chr194464488144646741E06945266
chr194455494844556685E070-42930
chr194455673144556943E070-42672
chr194457541944575610E070-24005
chr194457564244577153E070-22462
chr194459804744599722E0700
chr194461592544616789E07016310
chr194461680644618482E07017191
chr194464474344644803E07045128
chr194464488144646741E07045266
chr194455494844556685E071-42930
chr194455673144556943E071-42672
chr194457541944575610E071-24005
chr194457564244577153E071-22462
chr194459804744599722E0710
chr194461578744615827E07116172
chr194461592544616789E07116310
chr194461680644618482E07117191
chr194464474344644803E07145128
chr194464488144646741E07145266
chr194455494844556685E072-42930
chr194455673144556943E072-42672
chr194457541944575610E072-24005
chr194457564244577153E072-22462
chr194459804744599722E0720
chr194461592544616789E07216310
chr194461680644618482E07217191
chr194464474344644803E07245128
chr194464488144646741E07245266
chr194455494844556685E073-42930
chr194455673144556943E073-42672
chr194457541944575610E073-24005
chr194457564244577153E073-22462
chr194459804744599722E0730
chr194461592544616789E07316310
chr194461680644618482E07317191
chr194464488144646741E07345266
chr194455494844556685E074-42930
chr194455673144556943E074-42672
chr194457541944575610E074-24005
chr194457564244577153E074-22462
chr194459804744599722E0740
chr194461592544616789E07416310
chr194461680644618482E07417191
chr194464488144646741E07445266
chr194455494844556685E081-42930
chr194455673144556943E081-42672
chr194457541944575610E081-24005
chr194457564244577153E081-22462
chr194459804744599722E0810
chr194461592544616789E08116310
chr194461680644618482E08117191
chr194464488144646741E08145266
chr194455494844556685E082-42930
chr194455673144556943E082-42672
chr194457541944575610E082-24005
chr194457564244577153E082-22462
chr194459804744599722E0820
chr194461592544616789E08216310
chr194461680644618482E08217191
chr194464474344644803E08245128
chr194464488144646741E08245266