rs8104573

Homo sapiens
A>G
ZNF224 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0207 (6203/29926,GnomAD)
A==0231 (6746/29118,TOPMED)
A==0312 (1560/5008,1000G)
A==0122 (471/3854,ALSPAC)
A==0121 (450/3708,TWINSUK)
chr19:44099232 (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.44099232A>G
GRCh37.p13 chr 19NC_000019.9:g.44603385A>G

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
1000GenomesAfricanSub1322A=0.318G=0.682
1000GenomesAmericanSub694A=0.430G=0.570
1000GenomesEast AsianSub1008A=0.474G=0.526
1000GenomesEuropeSub1006A=0.142G=0.858
1000GenomesGlobalStudy-wide5008A=0.312G=0.688
1000GenomesSouth AsianSub978A=0.230G=0.770
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.122G=0.878
The Genome Aggregation DatabaseAfricanSub8690A=0.271G=0.729
The Genome Aggregation DatabaseAmericanSub836A=0.450G=0.550
The Genome Aggregation DatabaseEast AsianSub1612A=0.450G=0.550
The Genome Aggregation DatabaseEuropeSub18488A=0.145G=0.854
The Genome Aggregation DatabaseGlobalStudy-wide29926A=0.207G=0.792
The Genome Aggregation DatabaseOtherSub300A=0.190G=0.810
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.231G=0.768
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.121G=0.879
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
rs81045738.57E-05alcohol consumption23743675

eQTL of rs8104573 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 rs8104573 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 )
chr194455748644557536E067-45849
chr194455748644557536E068-45849
chr194461888344619034E06815498
chr194460014844600194E069-3191
chr194455793344557994E070-45391
chr194460014844600194E070-3191
chr194461888344619034E07015498
chr194461903744619091E07015652
chr194461912544619165E07015740
chr194461888344619034E07115498
chr194455748644557536E081-45849
chr194455748644557536E082-45849
chr194460081644600930E082-2455







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr194455479344554904E067-48481
chr194455494844556685E067-46700
chr194455673144556943E067-46442
chr194457541944575610E067-27775
chr194457564244577153E067-26232
chr194459804744599722E067-3663
chr194461592544616789E06712540
chr194461680644618482E06713421
chr194464488144646741E06741496
chr194455494844556685E068-46700
chr194455673144556943E068-46442
chr194457541944575610E068-27775
chr194457564244577153E068-26232
chr194459781244597885E068-5500
chr194459793544597989E068-5396
chr194459804744599722E068-3663
chr194461578744615827E06812402
chr194461592544616789E06812540
chr194461680644618482E06813421
chr194464474344644803E06841358
chr194464488144646741E06841496
chr194455494844556685E069-46700
chr194455673144556943E069-46442
chr194457541944575610E069-27775
chr194457564244577153E069-26232
chr194459804744599722E069-3663
chr194461578744615827E06912402
chr194461592544616789E06912540
chr194461680644618482E06913421
chr194464488144646741E06941496
chr194455494844556685E070-46700
chr194455673144556943E070-46442
chr194457541944575610E070-27775
chr194457564244577153E070-26232
chr194459804744599722E070-3663
chr194461592544616789E07012540
chr194461680644618482E07013421
chr194464474344644803E07041358
chr194464488144646741E07041496
chr194455494844556685E071-46700
chr194455673144556943E071-46442
chr194457541944575610E071-27775
chr194457564244577153E071-26232
chr194459804744599722E071-3663
chr194461578744615827E07112402
chr194461592544616789E07112540
chr194461680644618482E07113421
chr194464474344644803E07141358
chr194464488144646741E07141496
chr194455494844556685E072-46700
chr194455673144556943E072-46442
chr194457541944575610E072-27775
chr194457564244577153E072-26232
chr194459804744599722E072-3663
chr194461592544616789E07212540
chr194461680644618482E07213421
chr194464474344644803E07241358
chr194464488144646741E07241496
chr194455494844556685E073-46700
chr194455673144556943E073-46442
chr194457541944575610E073-27775
chr194457564244577153E073-26232
chr194459804744599722E073-3663
chr194461592544616789E07312540
chr194461680644618482E07313421
chr194464488144646741E07341496
chr194455494844556685E074-46700
chr194455673144556943E074-46442
chr194457541944575610E074-27775
chr194457564244577153E074-26232
chr194459804744599722E074-3663
chr194461592544616789E07412540
chr194461680644618482E07413421
chr194464488144646741E07441496
chr194455494844556685E081-46700
chr194455673144556943E081-46442
chr194457541944575610E081-27775
chr194457564244577153E081-26232
chr194459804744599722E081-3663
chr194461592544616789E08112540
chr194461680644618482E08113421
chr194464488144646741E08141496
chr194455494844556685E082-46700
chr194455673144556943E082-46442
chr194457541944575610E082-27775
chr194457564244577153E082-26232
chr194459804744599722E082-3663
chr194461592544616789E08212540
chr194461680644618482E08213421
chr194464474344644803E08241358
chr194464488144646741E08241496