rs9436444

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

ELAVL4 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0264 (7901/29870,GnomAD)
A=0278 (8102/29118,TOPMED)
A=0298 (1490/5008,1000G)
A=0226 (871/3854,ALSPAC)
A=0241 (894/3708,TWINSUK)

Position: chr1:50124126 (GRCh38.p7) (1p33)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 24 Enhancers around

Promoter: 55 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 1	NC_000001.11:g.50124126G>A
GRCh37.p13 chr 1	NC_000001.10:g.50589798G>A

Gene: ELAVL4, ELAV like neuron-specific RNA binding protein 4(plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ELAVL4 transcript variant 2	NM_001144774.2:c.	N/A	Intron Variant
ELAVL4 transcript variant 3	NM_001144775.2:c.	N/A	Intron Variant
ELAVL4 transcript variant 4	NM_001144776.2:c.	N/A	Intron Variant
ELAVL4 transcript variant 5	NM_001144777.2:c.	N/A	Intron Variant
ELAVL4 transcript variant 6	NM_001294348.1:c.	N/A	Intron Variant
ELAVL4 transcript variant 7	NM_001324208.1:c.	N/A	Intron Variant
ELAVL4 transcript variant 8	NM_001324209.1:c.	N/A	Intron Variant
ELAVL4 transcript variant 13	NM_001324212.1:c.	N/A	Intron Variant
ELAVL4 transcript variant 9	NM_001324213.1:c.	N/A	Intron Variant
ELAVL4 transcript variant 14	NM_001324214.1:c.	N/A	Intron Variant
ELAVL4 transcript variant 10	NM_001324215.1:c.	N/A	Intron Variant
ELAVL4 transcript variant 11	NM_001324216.1:c.	N/A	Intron Variant
ELAVL4 transcript variant 12	NM_001324217.1:c.	N/A	Intron Variant
ELAVL4 transcript variant 1	NM_021952.4:c.	N/A	Intron Variant
ELAVL4 transcript variant 15	NR_136725.1:n.	N/A	Intron Variant
ELAVL4 transcript variant X2	XM_006710411.3:c.	N/A	Intron Variant
ELAVL4 transcript variant X1	XM_011540889.2:c.	N/A	Intron Variant
ELAVL4 transcript variant X3	XM_011540890.2:c.	N/A	Intron Variant
ELAVL4 transcript variant X4	XM_011540893.2:c.	N/A	Intron Variant
ELAVL4 transcript variant X7	XM_011540894.2:c.	N/A	Intron Variant
ELAVL4 transcript variant X6	XM_011540895.2:c.	N/A	Intron Variant
ELAVL4 transcript variant X5	XM_017000538.1:c.	N/A	Intron Variant
ELAVL4 transcript variant X10	XM_017000539.1:c.	N/A	Intron Variant
ELAVL4 transcript variant X13	XM_017000540.1:c.	N/A	Intron Variant
ELAVL4 transcript variant X14	XM_017000541.1:c.	N/A	Intron Variant
ELAVL4 transcript variant X15	XM_017000542.1:c.	N/A	Intron Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.642	A=0.358
1000Genomes	American	Sub	694	G=0.700	A=0.300
1000Genomes	East Asian	Sub	1008	G=0.652	A=0.348
1000Genomes	Europe	Sub	1006	G=0.811	A=0.189
1000Genomes	Global	Study-wide	5008	G=0.702	A=0.298
1000Genomes	South Asian	Sub	978	G=0.720	A=0.280
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.774	A=0.226
The Genome Aggregation Database	African	Sub	8702	G=0.666	A=0.334
The Genome Aggregation Database	American	Sub	834	G=0.770	A=0.230
The Genome Aggregation Database	East Asian	Sub	1576	G=0.652	A=0.348
The Genome Aggregation Database	Europe	Sub	18456	G=0.771	A=0.228
The Genome Aggregation Database	Global	Study-wide	29870	G=0.735	A=0.264
The Genome Aggregation Database	Other	Sub	302	G=0.860	A=0.140
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.721	A=0.278
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.759	A=0.241

PMID	Title	Author	Journal
20201924	Genome-wide association study of alcohol dependence implicates a region on chromosome 11.	Edenberg HJ	Alcohol Clin Exp Res

P-Value

SNP ID	p-value	Traits	Study
rs9436444	0.00099	alcohol dependence	20201924

eQTL of rs9436444 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 rs9436444 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 )
chr1	50569561	50569800	E070	-19998
chr1	50582120	50582176	E070	-7622
chr1	50583406	50583490	E070	-6308
chr1	50591918	50592026	E070	2120
chr1	50594987	50595107	E070	5189
chr1	50596286	50596336	E070	6488
chr1	50601522	50601656	E070	11724
chr1	50604453	50604503	E070	14655
chr1	50606557	50606786	E070	16759
chr1	50607089	50607317	E070	17291
chr1	50621935	50622189	E072	32137
chr1	50582120	50582176	E073	-7622
chr1	50583406	50583490	E073	-6308
chr1	50569561	50569800	E081	-19998
chr1	50574437	50574617	E081	-15181
chr1	50582120	50582176	E081	-7622
chr1	50583406	50583490	E081	-6308
chr1	50606557	50606786	E081	16759
chr1	50607089	50607317	E081	17291
chr1	50569561	50569800	E082	-19998
chr1	50582120	50582176	E082	-7622
chr1	50583406	50583490	E082	-6308
chr1	50606557	50606786	E082	16759
chr1	50607089	50607317	E082	17291

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr1	50576167	50576363	E067	-13435
chr1	50576455	50576669	E067	-13129
chr1	50576735	50576971	E067	-12827
chr1	50577260	50577447	E067	-12351
chr1	50577472	50577522	E067	-12276
chr1	50577562	50577631	E067	-12167
chr1	50576167	50576363	E068	-13435
chr1	50576167	50576363	E069	-13435
chr1	50576455	50576669	E069	-13129
chr1	50576735	50576971	E069	-12827
chr1	50577260	50577447	E069	-12351
chr1	50577472	50577522	E069	-12276
chr1	50577562	50577631	E069	-12167
chr1	50576167	50576363	E070	-13435
chr1	50576455	50576669	E070	-13129
chr1	50576735	50576971	E070	-12827
chr1	50577260	50577447	E070	-12351
chr1	50577472	50577522	E070	-12276
chr1	50577562	50577631	E070	-12167
chr1	50578109	50578159	E070	-11639
chr1	50597917	50598062	E070	8119
chr1	50576167	50576363	E071	-13435
chr1	50576455	50576669	E071	-13129
chr1	50576735	50576971	E071	-12827
chr1	50577260	50577447	E071	-12351
chr1	50577472	50577522	E071	-12276
chr1	50577562	50577631	E071	-12167
chr1	50576167	50576363	E072	-13435
chr1	50576455	50576669	E072	-13129
chr1	50576735	50576971	E072	-12827
chr1	50577260	50577447	E072	-12351
chr1	50577472	50577522	E072	-12276
chr1	50577562	50577631	E072	-12167
chr1	50578109	50578159	E072	-11639
chr1	50576167	50576363	E073	-13435
chr1	50576455	50576669	E073	-13129
chr1	50576735	50576971	E073	-12827
chr1	50577260	50577447	E073	-12351
chr1	50577472	50577522	E073	-12276
chr1	50577562	50577631	E073	-12167
chr1	50576167	50576363	E074	-13435
chr1	50576167	50576363	E081	-13435
chr1	50576455	50576669	E081	-13129
chr1	50576735	50576971	E081	-12827
chr1	50577260	50577447	E081	-12351
chr1	50577472	50577522	E081	-12276
chr1	50577562	50577631	E081	-12167
chr1	50578109	50578159	E081	-11639
chr1	50576167	50576363	E082	-13435
chr1	50576455	50576669	E082	-13129
chr1	50576735	50576971	E082	-12827
chr1	50577260	50577447	E082	-12351
chr1	50577472	50577522	E082	-12276
chr1	50577562	50577631	E082	-12167
chr1	50578109	50578159	E082	-11639