rs4802206

Homo sapiens
C>T
ZNF224 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0241 (7213/29822,GnomAD)
C==0288 (8405/29118,TOPMED)
C==0351 (1758/5008,1000G)
C==0123 (474/3854,ALSPAC)
C==0123 (456/3708,TWINSUK)
chr19:44096083 (GRCh38.p7) (19q13.31)
AD
GWASdb2
1   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.44096083C>T
GRCh37.p13 chr 19NC_000019.9:g.44600236C>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=0.455T=0.545
1000GenomesAmericanSub694C=0.450T=0.550
1000GenomesEast AsianSub1008C=0.475T=0.525
1000GenomesEuropeSub1006C=0.142T=0.858
1000GenomesGlobalStudy-wide5008C=0.351T=0.649
1000GenomesSouth AsianSub978C=0.230T=0.770
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.123T=0.877
The Genome Aggregation DatabaseAfricanSub8700C=0.386T=0.614
The Genome Aggregation DatabaseAmericanSub832C=0.460T=0.540
The Genome Aggregation DatabaseEast AsianSub1608C=0.453T=0.547
The Genome Aggregation DatabaseEuropeSub18380C=0.146T=0.854
The Genome Aggregation DatabaseGlobalStudy-wide29822C=0.241T=0.758
The Genome Aggregation DatabaseOtherSub302C=0.200T=0.800
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.288T=0.711
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.123T=0.877
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
rs48022069.09E-05alcohol consumption23743675

eQTL of rs4802206 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 rs4802206 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 )
chr194455748644557536E067-42700
chr194455748644557536E068-42700
chr194461888344619034E06818647
chr194460014844600194E069-42
chr194455793344557994E070-42242
chr194460014844600194E070-42
chr194461888344619034E07018647
chr194461903744619091E07018801
chr194461912544619165E07018889
chr194461888344619034E07118647
chr194455748644557536E081-42700
chr194455748644557536E082-42700
chr194460081644600930E082580







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr194455479344554904E067-45332
chr194455494844556685E067-43551
chr194455673144556943E067-43293
chr194457541944575610E067-24626
chr194457564244577153E067-23083
chr194459804744599722E067-514
chr194461592544616789E06715689
chr194461680644618482E06716570
chr194464488144646741E06744645
chr194455494844556685E068-43551
chr194455673144556943E068-43293
chr194457541944575610E068-24626
chr194457564244577153E068-23083
chr194459781244597885E068-2351
chr194459793544597989E068-2247
chr194459804744599722E068-514
chr194461578744615827E06815551
chr194461592544616789E06815689
chr194461680644618482E06816570
chr194464474344644803E06844507
chr194464488144646741E06844645
chr194455494844556685E069-43551
chr194455673144556943E069-43293
chr194457541944575610E069-24626
chr194457564244577153E069-23083
chr194459804744599722E069-514
chr194461578744615827E06915551
chr194461592544616789E06915689
chr194461680644618482E06916570
chr194464488144646741E06944645
chr194455494844556685E070-43551
chr194455673144556943E070-43293
chr194457541944575610E070-24626
chr194457564244577153E070-23083
chr194459804744599722E070-514
chr194461592544616789E07015689
chr194461680644618482E07016570
chr194464474344644803E07044507
chr194464488144646741E07044645
chr194455494844556685E071-43551
chr194455673144556943E071-43293
chr194457541944575610E071-24626
chr194457564244577153E071-23083
chr194459804744599722E071-514
chr194461578744615827E07115551
chr194461592544616789E07115689
chr194461680644618482E07116570
chr194464474344644803E07144507
chr194464488144646741E07144645
chr194455494844556685E072-43551
chr194455673144556943E072-43293
chr194457541944575610E072-24626
chr194457564244577153E072-23083
chr194459804744599722E072-514
chr194461592544616789E07215689
chr194461680644618482E07216570
chr194464474344644803E07244507
chr194464488144646741E07244645
chr194455494844556685E073-43551
chr194455673144556943E073-43293
chr194457541944575610E073-24626
chr194457564244577153E073-23083
chr194459804744599722E073-514
chr194461592544616789E07315689
chr194461680644618482E07316570
chr194464488144646741E07344645
chr194455494844556685E074-43551
chr194455673144556943E074-43293
chr194457541944575610E074-24626
chr194457564244577153E074-23083
chr194459804744599722E074-514
chr194461592544616789E07415689
chr194461680644618482E07416570
chr194464488144646741E07444645
chr194455494844556685E081-43551
chr194455673144556943E081-43293
chr194457541944575610E081-24626
chr194457564244577153E081-23083
chr194459804744599722E081-514
chr194461592544616789E08115689
chr194461680644618482E08116570
chr194464488144646741E08144645
chr194455494844556685E082-43551
chr194455673144556943E082-43293
chr194457541944575610E082-24626
chr194457564244577153E082-23083
chr194459804744599722E082-514
chr194461592544616789E08215689
chr194461680644618482E08216570
chr194464474344644803E08244507
chr194464488144646741E08244645