rs55702914

Organism: Homo sapiens

Alleles: C>G

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0349 (10465/29924,GnomAD)
G=0345 (10048/29118,TOPMED)
G=0365 (1829/5008,1000G)
G=0435 (1675/3854,ALSPAC)
G=0424 (1573/3708,TWINSUK)

Position: chr2:197349672 (GRCh38.p7) (2q33.1)

Phenotype: AD

Dataset:

GWASCatalog

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 41 Enhancers around

Promoter: 15 Promoters around

Sequence Name	Change(s)
GRCh38.p7 chr 2	NC_000002.12:g.197349672C>G
GRCh37.p13 chr 2	NC_000002.11:g.198214396C>G

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	C=0.783	G=0.217
1000Genomes	American	Sub	694	C=0.620	G=0.380
1000Genomes	East Asian	Sub	1008	C=0.713	G=0.287
1000Genomes	Europe	Sub	1006	C=0.521	G=0.479
1000Genomes	Global	Study-wide	5008	C=0.635	G=0.365
1000Genomes	South Asian	Sub	978	C=0.480	G=0.520
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.565	G=0.435
The Genome Aggregation Database	African	Sub	8710	C=0.755	G=0.245
The Genome Aggregation Database	American	Sub	838	C=0.710	G=0.290
The Genome Aggregation Database	East Asian	Sub	1614	C=0.739	G=0.261
The Genome Aggregation Database	Europe	Sub	18460	C=0.592	G=0.407
The Genome Aggregation Database	Global	Study-wide	29924	C=0.650	G=0.349
The Genome Aggregation Database	Other	Sub	302	C=0.510	G=0.490
Trans-Omics for Precision Medicine	Global	Study-wide	29118	C=0.654	G=0.345
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.576	G=0.424

PMID	Title	Author	Journal
29071344	Genetic Risk Variants Associated With Comorbid Alcohol Dependence and Major Depression.	Zhou H	JAMA Psychiatry

SNP ID	p-value	Traits	Study
rs55702914	1E-06	alcohol dependence	29071344

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
Chr2:198214396	SF3B1	ENSG00000115524.11	C>G	3.2695e-5	-85419	Cerebellum
Chr2:198214396	SF3B1	ENSG00000115524.11	C>G	7.6222e-4	-85419	Caudate_basal_ganglia

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 )
chr2	198170850	198171284	E067	-43112
chr2	198171319	198171761	E067	-42635
chr2	198243759	198243994	E067	29363
chr2	198167276	198167357	E068	-47039
chr2	198167399	198167439	E068	-46957
chr2	198170850	198171284	E068	-43112
chr2	198171319	198171761	E068	-42635
chr2	198166925	198167174	E069	-47222
chr2	198167276	198167357	E069	-47039
chr2	198167399	198167439	E069	-46957
chr2	198170850	198171284	E069	-43112
chr2	198171319	198171761	E069	-42635
chr2	198166925	198167174	E071	-47222
chr2	198167276	198167357	E071	-47039
chr2	198167399	198167439	E071	-46957
chr2	198170850	198171284	E071	-43112
chr2	198171319	198171761	E071	-42635
chr2	198214366	198214820	E071	0
chr2	198243114	198243725	E071	28718
chr2	198167276	198167357	E072	-47039
chr2	198170850	198171284	E072	-43112
chr2	198171319	198171761	E072	-42635
chr2	198170850	198171284	E073	-43112
chr2	198171319	198171761	E073	-42635
chr2	198167399	198167439	E074	-46957
chr2	198170850	198171284	E074	-43112
chr2	198171319	198171761	E074	-42635
chr2	198214366	198214820	E074	0
chr2	198243759	198243994	E074	29363
chr2	198170850	198171284	E081	-43112
chr2	198171319	198171761	E081	-42635
chr2	198192009	198192838	E081	-21558
chr2	198192906	198192981	E081	-21415
chr2	198193177	198193238	E081	-21158
chr2	198204888	198205006	E081	-9390
chr2	198205438	198206161	E081	-8235
chr2	198208450	198208504	E081	-5892
chr2	198208741	198208947	E081	-5449
chr2	198170850	198171284	E082	-43112
chr2	198192906	198192981	E082	-21415
chr2	198193177	198193238	E082	-21158

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr2	198173339	198173697	E067	-40699
chr2	198173785	198176822	E067	-37574
chr2	198173339	198173697	E068	-40699
chr2	198173785	198176822	E068	-37574
chr2	198173339	198173697	E069	-40699
chr2	198173785	198176822	E069	-37574
chr2	198173785	198176822	E070	-37574
chr2	198173339	198173697	E071	-40699
chr2	198173785	198176822	E071	-37574
chr2	198173785	198176822	E072	-37574
chr2	198173785	198176822	E073	-37574
chr2	198173785	198176822	E074	-37574
chr2	198173785	198176822	E081	-37574
chr2	198173339	198173697	E082	-40699
chr2	198173785	198176822	E082	-37574