SNP Detail Info-rs2936032

Organism: Homo sapiens

Alleles: C>T

Gene : Feature

TAF1A : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

C==0188 (5640/29934,GnomAD)
C==0217 (6335/29116,TOPMED)
C==0292 (1462/5008,1000G)
C==0140 (540/3854,ALSPAC)
C==0134 (498/3708,TWINSUK)

Position: chr1:222578449 (GRCh38.p7) (1q41)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 9 Enhancers around

Promoter: 20 Promoters around

Sequence Name	Change(s)
GRCh38.p7 chr 1	NC_000001.11:g.222578449C>T
GRCh37.p13 chr 1	NC_000001.10:g.222751791C>T

Molecule type	Change	Amino acid[Codon]	SO Term
TAF1A transcript variant 3	NM_001201536.1:c.	N/A	Intron Variant
TAF1A transcript variant 1	NM_005681.3:c.	N/A	Intron Variant
TAF1A transcript variant 2	NM_139352.2:c.	N/A	Intron Variant
TAF1A transcript variant X7	XM_005273343.3:c.	N/A	Intron Variant
TAF1A transcript variant X1	XM_006711612.1:c.	N/A	Intron Variant
TAF1A transcript variant X3	XM_006711613.3:c.	N/A	Intron Variant
TAF1A transcript variant X2	XM_017002758.1:c.	N/A	Intron Variant
TAF1A transcript variant X4	XM_017002759.1:c.	N/A	Intron Variant
TAF1A transcript variant X5	XM_017002760.1:c.	N/A	Intron Variant
TAF1A transcript variant X6	XR_001737526.1:n.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	C=0.301	T=0.699
1000Genomes	American	Sub	694	C=0.380	T=0.620
1000Genomes	East Asian	Sub	1008	C=0.349	T=0.651
1000Genomes	Europe	Sub	1006	C=0.100	T=0.900
1000Genomes	Global	Study-wide	5008	C=0.292	T=0.708
1000Genomes	South Asian	Sub	978	C=0.350	T=0.650
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.140	T=0.860
The Genome Aggregation Database	African	Sub	8700	C=0.270	T=0.730
The Genome Aggregation Database	American	Sub	838	C=0.380	T=0.620
The Genome Aggregation Database	East Asian	Sub	1614	C=0.314	T=0.686
The Genome Aggregation Database	Europe	Sub	18480	C=0.129	T=0.870
The Genome Aggregation Database	Global	Study-wide	29934	C=0.188	T=0.811
The Genome Aggregation Database	Other	Sub	302	C=0.230	T=0.770
Trans-Omics for Precision Medicine	Global	Study-wide	29116	C=0.217	T=0.782
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.134	T=0.866

PMID	Title	Author	Journal
22096494	A novel, functional and replicable risk gene region for alcohol dependence identified by genome-wide association study.	Zuo L	PLoS One

SNP ID	p-value	Traits	Study
rs2936032	5.4E-05	alcohol dependence	22096494

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
Chr1:222751791	RP11-378J18.3	ENSG00000225265.1	C>T	1.4363e-3	-11485	Caudate_basal_ganglia

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

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr1	222761798	222761860	E067	10007
chr1	222764230	222764284	E067	12439
chr1	222789849	222790254	E068	38058
chr1	222790344	222790430	E068	38553
chr1	222761798	222761860	E069	10007
chr1	222761798	222761860	E070	10007
chr1	222726402	222726468	E073	-25323
chr1	222726558	222726598	E073	-25193
chr1	222761798	222761860	E081	10007

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr1	222762714	222763901	E067	10923
chr1	222790484	222792695	E067	38693
chr1	222762714	222763901	E068	10923
chr1	222790484	222792695	E068	38693
chr1	222762714	222763901	E069	10923
chr1	222790484	222792695	E069	38693
chr1	222762714	222763901	E070	10923
chr1	222790484	222792695	E070	38693
chr1	222762714	222763901	E071	10923
chr1	222790484	222792695	E071	38693
chr1	222762714	222763901	E072	10923
chr1	222790484	222792695	E072	38693
chr1	222762714	222763901	E073	10923
chr1	222790484	222792695	E073	38693
chr1	222762714	222763901	E074	10923
chr1	222790484	222792695	E074	38693
chr1	222762714	222763901	E081	10923
chr1	222790484	222792695	E081	38693
chr1	222762714	222763901	E082	10923
chr1	222790484	222792695	E082	38693

rs2936032