rs8113249

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

ZNF284 : Missense Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G==0211 (25403/119880,ExAC)
G==0178 (5351/29968,GnomAD)
G==0163 (4764/29118,TOPMED)
A=0153 (1991/12986,GO-ESP)
G==0240 (1200/5008,1000G)
G==0152 (585/3854,ALSPAC)
G==0155 (573/3708,TWINSUK)

Position: chr19:44087207 (GRCh38.p7) (19q13.31)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 13 Enhancers around

Promoter: 76 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 19	NC_000019.10:g.44087207G>A
GRCh37.p13 chr 19	NC_000019.9:g.44591360G>A

Gene: ZNF284, zinc finger protein 284(plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ZNF284 transcript	NM_001037813.2:c....NM_001037813.2:c.1729G>A	E [GAG]> K [AAG]	Coding Sequence Variant
zinc finger protein 284	NP_001032902.1:p....NP_001032902.1:p.Glu577Lys	E [Glu]> K [Lys]	Missense Variant
ZNF284 transcript variant X1	XM_011526908.2:c....XM_011526908.2:c.1729G>A	E [GAG]> K [AAG]	Coding Sequence Variant
zinc finger protein 284 isoform X1	XP_011525210.1:p....XP_011525210.1:p.Glu577Lys	E [Glu]> K [Lys]	Missense Variant
ZNF284 transcript variant X2	XM_011526907.2:c....XM_011526907.2:c.1729G>A	E [GAG]> K [AAG]	Coding Sequence Variant
zinc finger protein 284 isoform X1	XP_011525209.1:p....XP_011525209.1:p.Glu577Lys	E [Glu]> K [Lys]	Missense Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.135	A=0.865
1000Genomes	American	Sub	694	G=0.260	A=0.740
1000Genomes	East Asian	Sub	1008	G=0.387	A=0.613
1000Genomes	Europe	Sub	1006	G=0.164	A=0.836
1000Genomes	Global	Study-wide	5008	G=0.240	A=0.760
1000Genomes	South Asian	Sub	978	G=0.290	A=0.710
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.152	A=0.848
The Exome Aggregation Consortium	American	Sub	21340	G=0.209	A=0.790
The Exome Aggregation Consortium	Asian	Sub	24834	G=0.322	A=0.677
The Exome Aggregation Consortium	Europe	Sub	72810	G=0.175	A=0.825
The Exome Aggregation Consortium	Global	Study-wide	119880	G=0.211	A=0.788
The Exome Aggregation Consortium	Other	Sub	896	G=0.190	A=0.810
The Genome Aggregation Database	African	Sub	8726	G=0.132	A=0.868
The Genome Aggregation Database	American	Sub	834	G=0.280	A=0.720
The Genome Aggregation Database	East Asian	Sub	1620	G=0.398	A=0.602
The Genome Aggregation Database	Europe	Sub	18486	G=0.176	A=0.823
The Genome Aggregation Database	Global	Study-wide	29968	G=0.178	A=0.821
The Genome Aggregation Database	Other	Sub	302	G=0.200	A=0.800
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.163	A=0.836
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.155	A=0.845

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
rs8113249	0.00012	alcohol consumption	23743675

eQTL of rs8113249 in Brain tissues (GTEx Analysis Release V7)

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
Chr19:44591360	ZNF284	ENSG00000186026.6	G>A	6.4241e-4	15063	Cerebellum
Chr19:44591360	ZNF284	ENSG00000186026.6	G>A	8.0274e-4	15063	Cerebellar_Hemisphere

meQTL of rs8113249 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	44557486	44557536	E067	-33824
chr19	44557486	44557536	E068	-33824
chr19	44618883	44619034	E068	27523
chr19	44600148	44600194	E069	8788
chr19	44557933	44557994	E070	-33366
chr19	44600148	44600194	E070	8788
chr19	44618883	44619034	E070	27523
chr19	44619037	44619091	E070	27677
chr19	44619125	44619165	E070	27765
chr19	44618883	44619034	E071	27523
chr19	44557486	44557536	E081	-33824
chr19	44557486	44557536	E082	-33824
chr19	44600816	44600930	E082	9456

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr19	44554793	44554904	E067	-36456
chr19	44554948	44556685	E067	-34675
chr19	44556731	44556943	E067	-34417
chr19	44575419	44575610	E067	-15750
chr19	44575642	44577153	E067	-14207
chr19	44598047	44599722	E067	6687
chr19	44615925	44616789	E067	24565
chr19	44616806	44618482	E067	25446
chr19	44554948	44556685	E068	-34675
chr19	44556731	44556943	E068	-34417
chr19	44575419	44575610	E068	-15750
chr19	44575642	44577153	E068	-14207
chr19	44597812	44597885	E068	6452
chr19	44597935	44597989	E068	6575
chr19	44598047	44599722	E068	6687
chr19	44615787	44615827	E068	24427
chr19	44615925	44616789	E068	24565
chr19	44616806	44618482	E068	25446
chr19	44554948	44556685	E069	-34675
chr19	44556731	44556943	E069	-34417
chr19	44575419	44575610	E069	-15750
chr19	44575642	44577153	E069	-14207
chr19	44598047	44599722	E069	6687
chr19	44615787	44615827	E069	24427
chr19	44615925	44616789	E069	24565
chr19	44616806	44618482	E069	25446
chr19	44554948	44556685	E070	-34675
chr19	44556731	44556943	E070	-34417
chr19	44575419	44575610	E070	-15750
chr19	44575642	44577153	E070	-14207
chr19	44598047	44599722	E070	6687
chr19	44615925	44616789	E070	24565
chr19	44616806	44618482	E070	25446
chr19	44554948	44556685	E071	-34675
chr19	44556731	44556943	E071	-34417
chr19	44575419	44575610	E071	-15750
chr19	44575642	44577153	E071	-14207
chr19	44598047	44599722	E071	6687
chr19	44615787	44615827	E071	24427
chr19	44615925	44616789	E071	24565
chr19	44616806	44618482	E071	25446
chr19	44554948	44556685	E072	-34675
chr19	44556731	44556943	E072	-34417
chr19	44575419	44575610	E072	-15750
chr19	44575642	44577153	E072	-14207
chr19	44598047	44599722	E072	6687
chr19	44615925	44616789	E072	24565
chr19	44616806	44618482	E072	25446
chr19	44554948	44556685	E073	-34675
chr19	44556731	44556943	E073	-34417
chr19	44575419	44575610	E073	-15750
chr19	44575642	44577153	E073	-14207
chr19	44598047	44599722	E073	6687
chr19	44615925	44616789	E073	24565
chr19	44616806	44618482	E073	25446
chr19	44554948	44556685	E074	-34675
chr19	44556731	44556943	E074	-34417
chr19	44575419	44575610	E074	-15750
chr19	44575642	44577153	E074	-14207
chr19	44598047	44599722	E074	6687
chr19	44615925	44616789	E074	24565
chr19	44616806	44618482	E074	25446
chr19	44554948	44556685	E081	-34675
chr19	44556731	44556943	E081	-34417
chr19	44575419	44575610	E081	-15750
chr19	44575642	44577153	E081	-14207
chr19	44598047	44599722	E081	6687
chr19	44615925	44616789	E081	24565
chr19	44616806	44618482	E081	25446
chr19	44554948	44556685	E082	-34675
chr19	44556731	44556943	E082	-34417
chr19	44575419	44575610	E082	-15750
chr19	44575642	44577153	E082	-14207
chr19	44598047	44599722	E082	6687
chr19	44615925	44616789	E082	24565
chr19	44616806	44618482	E082	25446