rs4803677

Organism: Homo sapiens

Alleles: C>T

Gene : Feature

ZNF224 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

C==0159 (4758/29874,GnomAD)
C==0149 (4365/29118,TOPMED)
C==0206 (1030/5008,1000G)
C==0116 (448/3854,ALSPAC)
C==0118 (436/3708,TWINSUK)

Position: chr19:44104810 (GRCh38.p7) (19q13.31)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 8 Enhancers around

Promoter: 70 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 19	NC_000019.10:g.44104810C>T
GRCh37.p13 chr 19	NC_000019.9:g.44608963C>T

Gene: ZNF224, zinc finger protein 224(plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ZNF224 transcript	NM_001321645.1:c.	N/A	Intron Variant
ZNF224 transcript	NM_013398.3:c.	N/A	Intron Variant
ZNF224 transcript variant X1	XM_017027261.1:c.	N/A	Intron Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	C=0.116	T=0.884
1000Genomes	American	Sub	694	C=0.250	T=0.750
1000Genomes	East Asian	Sub	1008	C=0.383	T=0.617
1000Genomes	Europe	Sub	1006	C=0.129	T=0.871
1000Genomes	Global	Study-wide	5008	C=0.206	T=0.794
1000Genomes	South Asian	Sub	978	C=0.190	T=0.810
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.116	T=0.884
The Genome Aggregation Database	African	Sub	8708	C=0.134	T=0.866
The Genome Aggregation Database	American	Sub	832	C=0.250	T=0.750
The Genome Aggregation Database	East Asian	Sub	1610	C=0.387	T=0.613
The Genome Aggregation Database	Europe	Sub	18422	C=0.147	T=0.852
The Genome Aggregation Database	Global	Study-wide	29874	C=0.159	T=0.840
The Genome Aggregation Database	Other	Sub	302	C=0.170	T=0.830
Trans-Omics for Precision Medicine	Global	Study-wide	29118	C=0.149	T=0.850
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.118	T=0.882

PMID	Title	Author	Journal
23743675	A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.	Kapoor M	Hum Genet

P-Value

SNP ID	p-value	Traits	Study
rs4803677	0.000142	alcohol consumption	23743675

eQTL of rs4803677 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 rs4803677 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 )
chr19	44618883	44619034	E068	9920
chr19	44600148	44600194	E069	-8769
chr19	44600148	44600194	E070	-8769
chr19	44618883	44619034	E070	9920
chr19	44619037	44619091	E070	10074
chr19	44619125	44619165	E070	10162
chr19	44618883	44619034	E071	9920
chr19	44600816	44600930	E082	-8033

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr19	44575419	44575610	E067	-33353
chr19	44575642	44577153	E067	-31810
chr19	44598047	44599722	E067	-9241
chr19	44615925	44616789	E067	6962
chr19	44616806	44618482	E067	7843
chr19	44644881	44646741	E067	35918
chr19	44575419	44575610	E068	-33353
chr19	44575642	44577153	E068	-31810
chr19	44597812	44597885	E068	-11078
chr19	44597935	44597989	E068	-10974
chr19	44598047	44599722	E068	-9241
chr19	44615787	44615827	E068	6824
chr19	44615925	44616789	E068	6962
chr19	44616806	44618482	E068	7843
chr19	44644743	44644803	E068	35780
chr19	44644881	44646741	E068	35918
chr19	44575419	44575610	E069	-33353
chr19	44575642	44577153	E069	-31810
chr19	44598047	44599722	E069	-9241
chr19	44615787	44615827	E069	6824
chr19	44615925	44616789	E069	6962
chr19	44616806	44618482	E069	7843
chr19	44644881	44646741	E069	35918
chr19	44575419	44575610	E070	-33353
chr19	44575642	44577153	E070	-31810
chr19	44598047	44599722	E070	-9241
chr19	44615925	44616789	E070	6962
chr19	44616806	44618482	E070	7843
chr19	44644743	44644803	E070	35780
chr19	44644881	44646741	E070	35918
chr19	44575419	44575610	E071	-33353
chr19	44575642	44577153	E071	-31810
chr19	44598047	44599722	E071	-9241
chr19	44615787	44615827	E071	6824
chr19	44615925	44616789	E071	6962
chr19	44616806	44618482	E071	7843
chr19	44644743	44644803	E071	35780
chr19	44644881	44646741	E071	35918
chr19	44575419	44575610	E072	-33353
chr19	44575642	44577153	E072	-31810
chr19	44598047	44599722	E072	-9241
chr19	44615925	44616789	E072	6962
chr19	44616806	44618482	E072	7843
chr19	44644743	44644803	E072	35780
chr19	44644881	44646741	E072	35918
chr19	44575419	44575610	E073	-33353
chr19	44575642	44577153	E073	-31810
chr19	44598047	44599722	E073	-9241
chr19	44615925	44616789	E073	6962
chr19	44616806	44618482	E073	7843
chr19	44644881	44646741	E073	35918
chr19	44575419	44575610	E074	-33353
chr19	44575642	44577153	E074	-31810
chr19	44598047	44599722	E074	-9241
chr19	44615925	44616789	E074	6962
chr19	44616806	44618482	E074	7843
chr19	44644881	44646741	E074	35918
chr19	44575419	44575610	E081	-33353
chr19	44575642	44577153	E081	-31810
chr19	44598047	44599722	E081	-9241
chr19	44615925	44616789	E081	6962
chr19	44616806	44618482	E081	7843
chr19	44644881	44646741	E081	35918
chr19	44575419	44575610	E082	-33353
chr19	44575642	44577153	E082	-31810
chr19	44598047	44599722	E082	-9241
chr19	44615925	44616789	E082	6962
chr19	44616806	44618482	E082	7843
chr19	44644743	44644803	E082	35780
chr19	44644881	44646741	E082	35918