SNP Detail Info-rs4714899

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

CLIC5 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0398 (11918/29922,GnomAD)
A=0400 (11651/29118,TOPMED)
A=0337 (1686/5008,1000G)
A=0291 (1121/3854,ALSPAC)
A=0292 (1082/3708,TWINSUK)

Position: chr6:45979730 (GRCh38.p7) (6p21.1)

Phenotype: ND

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 8 Enhancers around

Promoter: 13 Promoters around

Molecule type	Change	Amino acid[Codon]	SO Term
CLIC5 transcript variant 1	NM_001114086.1:c.	N/A	Intron Variant
CLIC5 transcript variant 3	NM_001256023.1:c.	N/A	Intron Variant
CLIC5 transcript variant 2	NM_016929.4:c.	N/A	Intron Variant
CLIC5 transcript variant 4	NR_045672.1:n.	N/A	Genic Upstream Transcript Variant
CLIC5 transcript variant 5	NR_045673.1:n.	N/A	Genic Upstream Transcript Variant
CLIC5 transcript variant 6	NR_045674.1:n.	N/A	Genic Upstream Transcript Variant
CLIC5 transcript variant X3	XM_011514692.2:c.	N/A	Intron Variant
CLIC5 transcript variant X4	XM_011514694.2:c.	N/A	Intron Variant
CLIC5 transcript variant X1	XM_017010953.1:c.	N/A	Intron Variant
CLIC5 transcript variant X2	XR_926258.2:n.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.384	A=0.616
1000Genomes	American	Sub	694	G=0.640	A=0.360
1000Genomes	East Asian	Sub	1008	G=0.898	A=0.102
1000Genomes	Europe	Sub	1006	G=0.682	A=0.318
1000Genomes	Global	Study-wide	5008	G=0.663	A=0.337
1000Genomes	South Asian	Sub	978	G=0.800	A=0.200
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.709	A=0.291
The Genome Aggregation Database	African	Sub	8706	G=0.433	A=0.567
The Genome Aggregation Database	American	Sub	836	G=0.560	A=0.440
The Genome Aggregation Database	East Asian	Sub	1614	G=0.924	A=0.076
The Genome Aggregation Database	Europe	Sub	18466	G=0.654	A=0.346
The Genome Aggregation Database	Global	Study-wide	29922	G=0.601	A=0.398
The Genome Aggregation Database	Other	Sub	300	G=0.670	A=0.330
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.599	A=0.400
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.708	A=0.292

PMID	Title	Author	Journal
20158304	A genomewide association study of nicotine and alcohol dependence in Australian and Dutch populations.	Lind PA	Twin Res Hum Genet

SNP ID	p-value	Traits	Study
rs4714899	6.54E-05	alcohol and nictotine co-dependence	20158304

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
There is no eQTL annotation for this SNP

Probe ID	Position	Gene	beta	p-value
There is no meQTL annotation for this SNP

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr6	45898091	45898599	E070	-48868
chr6	45919161	45919295	E070	-28172
chr6	45919381	45919820	E070	-27647
chr6	45898091	45898599	E072	-48868
chr6	45919161	45919295	E072	-28172
chr6	45919381	45919820	E072	-27647
chr6	45898091	45898599	E074	-48868
chr6	45898601	45898734	E074	-48733

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr6	45982790	45983673	E067	35323
chr6	45983724	45983831	E067	36257
chr6	45981788	45982743	E068	34321
chr6	45982790	45983673	E068	35323
chr6	45983724	45983831	E068	36257
chr6	45982790	45983673	E069	35323
chr6	45983724	45983831	E069	36257
chr6	45983724	45983831	E071	36257
chr6	45983974	45984136	E071	36507
chr6	45982790	45983673	E072	35323
chr6	45982790	45983673	E073	35323
chr6	45983724	45983831	E073	36257
chr6	45982790	45983673	E074	35323

rs4714899