rs4803678

Homo sapiens
C>T
ZNF224 : Intron Variant
LOC100379224 : 500B Downstream Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0149 (4462/29952,GnomAD)
C==0145 (4244/29118,TOPMED)
C==0203 (1019/5008,1000G)
C==0113 (437/3854,ALSPAC)
C==0115 (428/3708,TWINSUK)
chr19:44104994 (GRCh38.p7) (19q13.31)
AD
GWASdb2
1   publication(s)
See rs on genome
8 Enhancers around
70 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 19NC_000019.10:g.44104994C>T
GRCh37.p13 chr 19NC_000019.9:g.44609147C>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/AIntron Variant

Gene: LOC100379224, uncharacterized LOC100379224(minus strand): 500B Downstream Variant

Molecule type Change Amino acid[Codon] SO Term
LOC100379224 transcriptNR_033341.1:n.N/ADownstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.116T=0.884
1000GenomesAmericanSub694C=0.250T=0.750
1000GenomesEast AsianSub1008C=0.383T=0.617
1000GenomesEuropeSub1006C=0.120T=0.880
1000GenomesGlobalStudy-wide5008C=0.203T=0.797
1000GenomesSouth AsianSub978C=0.190T=0.810
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.113T=0.887
The Genome Aggregation DatabaseAfricanSub8716C=0.132T=0.868
The Genome Aggregation DatabaseAmericanSub838C=0.250T=0.750
The Genome Aggregation DatabaseEast AsianSub1620C=0.390T=0.610
The Genome Aggregation DatabaseEuropeSub18478C=0.131T=0.869
The Genome Aggregation DatabaseGlobalStudy-wide29952C=0.149T=0.851
The Genome Aggregation DatabaseOtherSub300C=0.160T=0.840
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.145T=0.854
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.115T=0.885
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
rs48036780.000146alcohol consumption23743675

eQTL of rs4803678 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 rs4803678 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 )
chr194461888344619034E0689736
chr194460014844600194E069-8953
chr194460014844600194E070-8953
chr194461888344619034E0709736
chr194461903744619091E0709890
chr194461912544619165E0709978
chr194461888344619034E0719736
chr194460081644600930E082-8217





Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr194457541944575610E067-33537
chr194457564244577153E067-31994
chr194459804744599722E067-9425
chr194461592544616789E0676778
chr194461680644618482E0677659
chr194464488144646741E06735734
chr194457541944575610E068-33537
chr194457564244577153E068-31994
chr194459781244597885E068-11262
chr194459793544597989E068-11158
chr194459804744599722E068-9425
chr194461578744615827E0686640
chr194461592544616789E0686778
chr194461680644618482E0687659
chr194464474344644803E06835596
chr194464488144646741E06835734
chr194457541944575610E069-33537
chr194457564244577153E069-31994
chr194459804744599722E069-9425
chr194461578744615827E0696640
chr194461592544616789E0696778
chr194461680644618482E0697659
chr194464488144646741E06935734
chr194457541944575610E070-33537
chr194457564244577153E070-31994
chr194459804744599722E070-9425
chr194461592544616789E0706778
chr194461680644618482E0707659
chr194464474344644803E07035596
chr194464488144646741E07035734
chr194457541944575610E071-33537
chr194457564244577153E071-31994
chr194459804744599722E071-9425
chr194461578744615827E0716640
chr194461592544616789E0716778
chr194461680644618482E0717659
chr194464474344644803E07135596
chr194464488144646741E07135734
chr194457541944575610E072-33537
chr194457564244577153E072-31994
chr194459804744599722E072-9425
chr194461592544616789E0726778
chr194461680644618482E0727659
chr194464474344644803E07235596
chr194464488144646741E07235734
chr194457541944575610E073-33537
chr194457564244577153E073-31994
chr194459804744599722E073-9425
chr194461592544616789E0736778
chr194461680644618482E0737659
chr194464488144646741E07335734
chr194457541944575610E074-33537
chr194457564244577153E074-31994
chr194459804744599722E074-9425
chr194461592544616789E0746778
chr194461680644618482E0747659
chr194464488144646741E07435734
chr194457541944575610E081-33537
chr194457564244577153E081-31994
chr194459804744599722E081-9425
chr194461592544616789E0816778
chr194461680644618482E0817659
chr194464488144646741E08135734
chr194457541944575610E082-33537
chr194457564244577153E082-31994
chr194459804744599722E082-9425
chr194461592544616789E0826778
chr194461680644618482E0827659
chr194464474344644803E08235596
chr194464488144646741E08235734