rs4802207

Homo sapiens
C>T
ZNF224 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0355 (10624/29884,GnomAD)
C==0428 (12480/29118,TOPMED)
C==0462 (2313/5008,1000G)
C==0159 (611/3854,ALSPAC)
C==0162 (602/3708,TWINSUK)
chr19:44096224 (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.44096224C>T
GRCh37.p13 chr 19NC_000019.9:g.44600377C>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/A5 Prime UTR Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.754T=0.246
1000GenomesAmericanSub694C=0.490T=0.510
1000GenomesEast AsianSub1008C=0.476T=0.524
1000GenomesEuropeSub1006C=0.193T=0.807
1000GenomesGlobalStudy-wide5008C=0.462T=0.538
1000GenomesSouth AsianSub978C=0.310T=0.690
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.159T=0.841
The Genome Aggregation DatabaseAfricanSub8704C=0.668T=0.332
The Genome Aggregation DatabaseAmericanSub832C=0.500T=0.500
The Genome Aggregation DatabaseEast AsianSub1614C=0.452T=0.548
The Genome Aggregation DatabaseEuropeSub18432C=0.194T=0.805
The Genome Aggregation DatabaseGlobalStudy-wide29884C=0.355T=0.644
The Genome Aggregation DatabaseOtherSub302C=0.240T=0.760
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.428T=0.571
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.162T=0.838
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
rs48022077.27E-05alcohol consumption23743675

eQTL of rs4802207 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr19:44600377ZNF284ENSG00000186026.6C>T6.4241e-424080Cerebellum
Chr19:44600377ZNF284ENSG00000186026.6C>T8.0274e-424080Cerebellar_Hemisphere

meQTL of rs4802207 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 )
chr194455748644557536E067-42841
chr194455748644557536E068-42841
chr194461888344619034E06818506
chr194460014844600194E069-183
chr194455793344557994E070-42383
chr194460014844600194E070-183
chr194461888344619034E07018506
chr194461903744619091E07018660
chr194461912544619165E07018748
chr194461888344619034E07118506
chr194455748644557536E081-42841
chr194455748644557536E082-42841
chr194460081644600930E082439







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr194455479344554904E067-45473
chr194455494844556685E067-43692
chr194455673144556943E067-43434
chr194457541944575610E067-24767
chr194457564244577153E067-23224
chr194459804744599722E067-655
chr194461592544616789E06715548
chr194461680644618482E06716429
chr194464488144646741E06744504
chr194455494844556685E068-43692
chr194455673144556943E068-43434
chr194457541944575610E068-24767
chr194457564244577153E068-23224
chr194459781244597885E068-2492
chr194459793544597989E068-2388
chr194459804744599722E068-655
chr194461578744615827E06815410
chr194461592544616789E06815548
chr194461680644618482E06816429
chr194464474344644803E06844366
chr194464488144646741E06844504
chr194455494844556685E069-43692
chr194455673144556943E069-43434
chr194457541944575610E069-24767
chr194457564244577153E069-23224
chr194459804744599722E069-655
chr194461578744615827E06915410
chr194461592544616789E06915548
chr194461680644618482E06916429
chr194464488144646741E06944504
chr194455494844556685E070-43692
chr194455673144556943E070-43434
chr194457541944575610E070-24767
chr194457564244577153E070-23224
chr194459804744599722E070-655
chr194461592544616789E07015548
chr194461680644618482E07016429
chr194464474344644803E07044366
chr194464488144646741E07044504
chr194455494844556685E071-43692
chr194455673144556943E071-43434
chr194457541944575610E071-24767
chr194457564244577153E071-23224
chr194459804744599722E071-655
chr194461578744615827E07115410
chr194461592544616789E07115548
chr194461680644618482E07116429
chr194464474344644803E07144366
chr194464488144646741E07144504
chr194455494844556685E072-43692
chr194455673144556943E072-43434
chr194457541944575610E072-24767
chr194457564244577153E072-23224
chr194459804744599722E072-655
chr194461592544616789E07215548
chr194461680644618482E07216429
chr194464474344644803E07244366
chr194464488144646741E07244504
chr194455494844556685E073-43692
chr194455673144556943E073-43434
chr194457541944575610E073-24767
chr194457564244577153E073-23224
chr194459804744599722E073-655
chr194461592544616789E07315548
chr194461680644618482E07316429
chr194464488144646741E07344504
chr194455494844556685E074-43692
chr194455673144556943E074-43434
chr194457541944575610E074-24767
chr194457564244577153E074-23224
chr194459804744599722E074-655
chr194461592544616789E07415548
chr194461680644618482E07416429
chr194464488144646741E07444504
chr194455494844556685E081-43692
chr194455673144556943E081-43434
chr194457541944575610E081-24767
chr194457564244577153E081-23224
chr194459804744599722E081-655
chr194461592544616789E08115548
chr194461680644618482E08116429
chr194464488144646741E08144504
chr194455494844556685E082-43692
chr194455673144556943E082-43434
chr194457541944575610E082-24767
chr194457564244577153E082-23224
chr194459804744599722E082-655
chr194461592544616789E08215548
chr194461680644618482E08216429
chr194464474344644803E08244366
chr194464488144646741E08244504