rs12291056

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

KIAA1549L : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0076 (2290/29982,GnomAD)
A=0092 (2693/29118,TOPMED)
A=0175 (876/5008,1000G)
A=0014 (54/3854,ALSPAC)
A=0012 (43/3708,TWINSUK)

Position: chr11:33393605 (GRCh38.p7) (11p13)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 31 Enhancers around

Promoter: 27 Promoters around

Sequence Name	Change(s)
GRCh38.p7 chr 11	NC_000011.10:g.33393605G>A
GRCh37.p13 chr 11	NC_000011.9:g.33415151G>A

Molecule type	Change	Amino acid[Codon]	SO Term
KIAA1549L transcript	NM_012194.2:c.	N/A	Genic Upstream Transcript Variant
KIAA1549L transcript variant X3	XM_005252847.3:c.	N/A	Intron Variant
KIAA1549L transcript variant X5	XM_011519970.2:c.	N/A	Intron Variant
KIAA1549L transcript variant X6	XM_017017486.1:c.	N/A	Intron Variant
KIAA1549L transcript variant X2	XM_005252848.3:c.	N/A	Genic Upstream Transcript Variant
KIAA1549L transcript variant X4	XM_011519969.2:c.	N/A	Genic Upstream Transcript Variant
KIAA1549L transcript variant X1	XM_017017484.1:c.	N/A	Genic Upstream Transcript Variant
KIAA1549L transcript variant X3	XM_017017485.1:c.	N/A	Genic Upstream Transcript Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.806	A=0.194
1000Genomes	American	Sub	694	G=0.820	A=0.180
1000Genomes	East Asian	Sub	1008	G=0.754	A=0.246
1000Genomes	Europe	Sub	1006	G=0.978	A=0.022
1000Genomes	Global	Study-wide	5008	G=0.825	A=0.175
1000Genomes	South Asian	Sub	978	G=0.770	A=0.230
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.986	A=0.014
The Genome Aggregation Database	African	Sub	8722	G=0.842	A=0.158
The Genome Aggregation Database	American	Sub	838	G=0.830	A=0.170
The Genome Aggregation Database	East Asian	Sub	1618	G=0.746	A=0.254
The Genome Aggregation Database	Europe	Sub	18502	G=0.980	A=0.019
The Genome Aggregation Database	Global	Study-wide	29982	G=0.923	A=0.076
The Genome Aggregation Database	Other	Sub	302	G=0.990	A=0.010
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.907	A=0.092
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.988	A=0.012

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

SNP ID	p-value	Traits	Study
rs12291056	0.000213	alcohol dependence	20201924

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

There is no significant Hi-C chromatin interaction data for this SNP.

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr11	33404267	33405380	E068	-9771
chr11	33366251	33366388	E069	-48763
chr11	33433340	33433414	E069	18189
chr11	33433483	33433602	E069	18332
chr11	33433950	33434202	E069	18799
chr11	33401613	33401780	E070	-13371
chr11	33412310	33412453	E070	-2698
chr11	33412685	33413425	E070	-1726
chr11	33423615	33423936	E070	8464
chr11	33366251	33366388	E071	-48763
chr11	33433340	33433414	E072	18189
chr11	33433162	33433212	E073	18011
chr11	33433340	33433414	E073	18189
chr11	33433483	33433602	E073	18332
chr11	33433950	33434202	E073	18799
chr11	33396784	33396944	E081	-18207
chr11	33400924	33401024	E081	-14127
chr11	33401248	33401339	E081	-13812
chr11	33401431	33401530	E081	-13621
chr11	33427392	33427442	E081	12241
chr11	33427519	33427678	E081	12368
chr11	33427788	33428012	E081	12637
chr11	33428052	33428144	E081	12901
chr11	33428183	33428263	E081	13032
chr11	33456839	33457054	E081	41688
chr11	33396784	33396944	E082	-18207
chr11	33400924	33401024	E082	-14127
chr11	33401248	33401339	E082	-13812
chr11	33401431	33401530	E082	-13621
chr11	33401613	33401780	E082	-13371
chr11	33464956	33465021	E082	49805

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr11	33396968	33399340	E067	-15811
chr11	33399436	33399583	E067	-15568
chr11	33399628	33400000	E067	-15151
chr11	33400049	33400099	E067	-15052
chr11	33396968	33399340	E068	-15811
chr11	33399436	33399583	E068	-15568
chr11	33399628	33400000	E068	-15151
chr11	33396968	33399340	E069	-15811
chr11	33399436	33399583	E069	-15568
chr11	33399628	33400000	E069	-15151
chr11	33396968	33399340	E070	-15811
chr11	33399436	33399583	E070	-15568
chr11	33396968	33399340	E071	-15811
chr11	33396968	33399340	E072	-15811
chr11	33399436	33399583	E072	-15568
chr11	33399628	33400000	E072	-15151
chr11	33400049	33400099	E072	-15052
chr11	33396968	33399340	E073	-15811
chr11	33399436	33399583	E073	-15568
chr11	33399628	33400000	E073	-15151
chr11	33400049	33400099	E073	-15052
chr11	33396968	33399340	E074	-15811
chr11	33399436	33399583	E081	-15568
chr11	33396968	33399340	E082	-15811
chr11	33399436	33399583	E082	-15568
chr11	33399628	33400000	E082	-15151
chr11	33400049	33400099	E082	-15052