rs4802204

Organism: Homo sapiens

Alleles: C>A

Gene : Feature

ZNF224 : 2KB Upstream Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

C==0354 (10571/29794,GnomAD)
C==0424 (12371/29118,TOPMED)
C==0460 (2302/5008,1000G)
C==0159 (614/3854,ALSPAC)
C==0160 (595/3708,TWINSUK)

Position: chr19:44093142 (GRCh38.p7) (19q13.31)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 13 Enhancers around

Promoter: 91 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 19	NC_000019.10:g.44093142C>A
GRCh37.p13 chr 19	NC_000019.9:g.44597295C>A

Gene: ZNF224, zinc finger protein 224(plus strand): 2KB Upstream Variant

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

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	C=0.744	A=0.256
1000Genomes	American	Sub	694	C=0.490	A=0.510
1000Genomes	East Asian	Sub	1008	C=0.474	A=0.526
1000Genomes	Europe	Sub	1006	C=0.193	A=0.807
1000Genomes	Global	Study-wide	5008	C=0.460	A=0.540
1000Genomes	South Asian	Sub	978	C=0.310	A=0.690
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.159	A=0.841
The Genome Aggregation Database	African	Sub	8692	C=0.659	A=0.341
The Genome Aggregation Database	American	Sub	834	C=0.500	A=0.500
The Genome Aggregation Database	East Asian	Sub	1612	C=0.456	A=0.544
The Genome Aggregation Database	Europe	Sub	18356	C=0.197	A=0.802
The Genome Aggregation Database	Global	Study-wide	29794	C=0.354	A=0.645
The Genome Aggregation Database	Other	Sub	300	C=0.230	A=0.770
Trans-Omics for Precision Medicine	Global	Study-wide	29118	C=0.424	A=0.575
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.160	A=0.840

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

SNP ID	p-value	Traits	Study
rs4802204	7.92E-05	alcohol consumption	23743675

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
Chr19:44597295	ZNF284	ENSG00000186026.6	C>A	6.4241e-4	20998	Cerebellum
Chr19:44597295	ZNF284	ENSG00000186026.6	C>A	8.0274e-4	20998	Cerebellar_Hemisphere

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	44557486	44557536	E067	-39759
chr19	44557486	44557536	E068	-39759
chr19	44618883	44619034	E068	21588
chr19	44600148	44600194	E069	2853
chr19	44557933	44557994	E070	-39301
chr19	44600148	44600194	E070	2853
chr19	44618883	44619034	E070	21588
chr19	44619037	44619091	E070	21742
chr19	44619125	44619165	E070	21830
chr19	44618883	44619034	E071	21588
chr19	44557486	44557536	E081	-39759
chr19	44557486	44557536	E082	-39759
chr19	44600816	44600930	E082	3521

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr19	44554793	44554904	E067	-42391
chr19	44554948	44556685	E067	-40610
chr19	44556731	44556943	E067	-40352
chr19	44575419	44575610	E067	-21685
chr19	44575642	44577153	E067	-20142
chr19	44598047	44599722	E067	752
chr19	44615925	44616789	E067	18630
chr19	44616806	44618482	E067	19511
chr19	44644881	44646741	E067	47586
chr19	44554948	44556685	E068	-40610
chr19	44556731	44556943	E068	-40352
chr19	44575419	44575610	E068	-21685
chr19	44575642	44577153	E068	-20142
chr19	44597812	44597885	E068	517
chr19	44597935	44597989	E068	640
chr19	44598047	44599722	E068	752
chr19	44615787	44615827	E068	18492
chr19	44615925	44616789	E068	18630
chr19	44616806	44618482	E068	19511
chr19	44644743	44644803	E068	47448
chr19	44644881	44646741	E068	47586
chr19	44554948	44556685	E069	-40610
chr19	44556731	44556943	E069	-40352
chr19	44575419	44575610	E069	-21685
chr19	44575642	44577153	E069	-20142
chr19	44598047	44599722	E069	752
chr19	44615787	44615827	E069	18492
chr19	44615925	44616789	E069	18630
chr19	44616806	44618482	E069	19511
chr19	44644881	44646741	E069	47586
chr19	44554948	44556685	E070	-40610
chr19	44556731	44556943	E070	-40352
chr19	44575419	44575610	E070	-21685
chr19	44575642	44577153	E070	-20142
chr19	44598047	44599722	E070	752
chr19	44615925	44616789	E070	18630
chr19	44616806	44618482	E070	19511
chr19	44644743	44644803	E070	47448
chr19	44644881	44646741	E070	47586
chr19	44554948	44556685	E071	-40610
chr19	44556731	44556943	E071	-40352
chr19	44575419	44575610	E071	-21685
chr19	44575642	44577153	E071	-20142
chr19	44598047	44599722	E071	752
chr19	44615787	44615827	E071	18492
chr19	44615925	44616789	E071	18630
chr19	44616806	44618482	E071	19511
chr19	44644743	44644803	E071	47448
chr19	44644881	44646741	E071	47586
chr19	44554948	44556685	E072	-40610
chr19	44556731	44556943	E072	-40352
chr19	44575419	44575610	E072	-21685
chr19	44575642	44577153	E072	-20142
chr19	44598047	44599722	E072	752
chr19	44615925	44616789	E072	18630
chr19	44616806	44618482	E072	19511
chr19	44644743	44644803	E072	47448
chr19	44644881	44646741	E072	47586
chr19	44554948	44556685	E073	-40610
chr19	44556731	44556943	E073	-40352
chr19	44575419	44575610	E073	-21685
chr19	44575642	44577153	E073	-20142
chr19	44598047	44599722	E073	752
chr19	44615925	44616789	E073	18630
chr19	44616806	44618482	E073	19511
chr19	44644881	44646741	E073	47586
chr19	44554948	44556685	E074	-40610
chr19	44556731	44556943	E074	-40352
chr19	44575419	44575610	E074	-21685
chr19	44575642	44577153	E074	-20142
chr19	44598047	44599722	E074	752
chr19	44615925	44616789	E074	18630
chr19	44616806	44618482	E074	19511
chr19	44644881	44646741	E074	47586
chr19	44554948	44556685	E081	-40610
chr19	44556731	44556943	E081	-40352
chr19	44575419	44575610	E081	-21685
chr19	44575642	44577153	E081	-20142
chr19	44598047	44599722	E081	752
chr19	44615925	44616789	E081	18630
chr19	44616806	44618482	E081	19511
chr19	44644881	44646741	E081	47586
chr19	44554948	44556685	E082	-40610
chr19	44556731	44556943	E082	-40352
chr19	44575419	44575610	E082	-21685
chr19	44575642	44577153	E082	-20142
chr19	44598047	44599722	E082	752
chr19	44615925	44616789	E082	18630
chr19	44616806	44618482	E082	19511
chr19	44644743	44644803	E082	47448
chr19	44644881	44646741	E082	47586

rs4802204

Genomic Coordinates

Gene: ZNF224, zinc finger protein 224(plus strand): 2KB Upstream Variant

Population Frequency

P-Value

eQTL of rs4802204 in Brain tissues (GTEx Analysis Release V7)

meQTL of rs4802204 in Fetal Brain

Genomic View

Chromatin Interaction

Enhancer Annotation (GRCh37.p13)

Promoter Annotation (GRCh37.p13)