rs11715796

Organism: Homo sapiens

Alleles: A>C

Gene : Feature

PBRM1 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

C=0037 (1120/29986,GnomAD)
C=0037 (1105/29118,TOPMED)
C=0022 (112/5008,1000G)
C=0054 (208/3854,ALSPAC)
C=0049 (183/3708,TWINSUK)

Position: chr3:52661634 (GRCh38.p7) (3p21.1)

Phenotype: ND

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 99 Enhancers around

Promoter: 49 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 3	NC_000003.12:g.52661634A>C
GRCh37.p13 chr 3	NC_000003.11:g.52695650A>C
PBRM1 RefSeqGene	NG_032108.1:g.29217T>G

Gene: PBRM1, polybromo 1(minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
PBRM1 transcript variant 2	NM_018313.4:c.	N/A	Intron Variant
PBRM1 transcript variant X25	XM_005265279.4:c.	N/A	Intron Variant
PBRM1 transcript variant X28	XM_005265280.3:c.	N/A	Intron Variant
PBRM1 transcript variant X28	XM_005265282.3:c.	N/A	Intron Variant
PBRM1 transcript variant X29	XM_005265283.3:c.	N/A	Intron Variant
PBRM1 transcript variant X9	XM_011533900.2:c.	N/A	Intron Variant
PBRM1 transcript variant X8	XM_011533902.2:c.	N/A	Intron Variant
PBRM1 transcript variant X10	XM_011533903.2:c.	N/A	Intron Variant
PBRM1 transcript variant X1	XM_017006725.1:c.	N/A	Intron Variant
PBRM1 transcript variant X2	XM_017006726.1:c.	N/A	Intron Variant
PBRM1 transcript variant X3	XM_017006727.1:c.	N/A	Intron Variant
PBRM1 transcript variant X4	XM_017006728.1:c.	N/A	Intron Variant
PBRM1 transcript variant X5	XM_017006729.1:c.	N/A	Intron Variant
PBRM1 transcript variant X6	XM_017006730.1:c.	N/A	Intron Variant
PBRM1 transcript variant X7	XM_017006731.1:c.	N/A	Intron Variant
PBRM1 transcript variant X11	XM_017006732.1:c.	N/A	Intron Variant
PBRM1 transcript variant X12	XM_017006733.1:c.	N/A	Intron Variant
PBRM1 transcript variant X13	XM_017006734.1:c.	N/A	Intron Variant
PBRM1 transcript variant X14	XM_017006735.1:c.	N/A	Intron Variant
PBRM1 transcript variant X17	XM_017006736.1:c.	N/A	Intron Variant
PBRM1 transcript variant X18	XM_017006737.1:c.	N/A	Intron Variant
PBRM1 transcript variant X17	XM_017006738.1:c.	N/A	Intron Variant
PBRM1 transcript variant X20	XM_017006739.1:c.	N/A	Intron Variant
PBRM1 transcript variant X21	XM_017006740.1:c.	N/A	Intron Variant
PBRM1 transcript variant X20	XM_017006741.1:c.	N/A	Intron Variant
PBRM1 transcript variant X23	XM_017006742.1:c.	N/A	Intron Variant
PBRM1 transcript variant X22	XM_017006743.1:c.	N/A	Intron Variant
PBRM1 transcript variant X25	XM_017006744.1:c.	N/A	Intron Variant
PBRM1 transcript variant X24	XM_017006745.1:c.	N/A	Intron Variant
PBRM1 transcript variant X27	XM_017006746.1:c.	N/A	Intron Variant
PBRM1 transcript variant X31	XM_017006747.1:c.	N/A	Intron Variant
PBRM1 transcript variant X32	XM_017006748.1:c.	N/A	Intron Variant
PBRM1 transcript variant X33	XM_017006749.1:c.	N/A	Intron Variant
PBRM1 transcript variant X34	XM_017006750.1:c.	N/A	Intron Variant
PBRM1 transcript variant X34	XM_017006751.1:c.	N/A	Intron Variant
PBRM1 transcript variant X36	XM_017006752.1:c.	N/A	Intron Variant
PBRM1 transcript variant X36	XM_017006753.1:c.	N/A	Intron Variant
PBRM1 transcript variant X38	XM_017006754.1:c.	N/A	Intron Variant
PBRM1 transcript variant X38	XM_017006755.1:c.	N/A	Intron Variant
PBRM1 transcript variant X39	XM_017006756.1:c.	N/A	Intron Variant
PBRM1 transcript variant X40	XM_017006757.1:c.	N/A	Intron Variant
PBRM1 transcript variant X41	XM_017006758.1:c.	N/A	Intron Variant
PBRM1 transcript variant X42	XM_017006759.1:c.	N/A	Intron Variant
PBRM1 transcript variant X43	XM_017006760.1:c.	N/A	Intron Variant
PBRM1 transcript variant X44	XM_017006761.1:c.	N/A	Intron Variant
PBRM1 transcript variant X45	XM_017006762.1:c.	N/A	Intron Variant
PBRM1 transcript variant X46	XM_017006763.1:c.	N/A	Intron Variant
PBRM1 transcript variant X47	XM_017006764.1:c.	N/A	Intron Variant
PBRM1 transcript variant X49	XM_017006765.1:c.	N/A	Intron Variant
PBRM1 transcript variant X50	XM_017006766.1:c.	N/A	Intron Variant
PBRM1 transcript variant X48	XR_001740194.1:n.	N/A	Intron Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.998	C=0.002
1000Genomes	American	Sub	694	A=0.970	C=0.030
1000Genomes	East Asian	Sub	1008	A=1.000	C=0.000
1000Genomes	Europe	Sub	1006	A=0.951	C=0.049
1000Genomes	Global	Study-wide	5008	A=0.978	C=0.022
1000Genomes	South Asian	Sub	978	A=0.960	C=0.040
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.946	C=0.054
The Genome Aggregation Database	African	Sub	8726	A=0.991	C=0.009
The Genome Aggregation Database	American	Sub	838	A=0.970	C=0.030
The Genome Aggregation Database	East Asian	Sub	1620	A=1.000	C=0.000
The Genome Aggregation Database	Europe	Sub	18500	A=0.945	C=0.054
The Genome Aggregation Database	Global	Study-wide	29986	A=0.962	C=0.037
The Genome Aggregation Database	Other	Sub	302	A=0.940	C=0.060
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.962	C=0.037
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.951	C=0.049

PMID	Title	Author	Journal
19268276	Genome-wide association study of smoking initiation and current smoking.	Vink JM	Am J Hum Genet

P-Value

SNP ID	p-value	Traits	Study
rs11715796	0.000761	nicotine smoking	19268276

eQTL of rs11715796 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 rs11715796 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 )
chr3	52704622	52705587	E067	8972
chr3	52713256	52713359	E067	17606
chr3	52713361	52713909	E067	17711
chr3	52713967	52714077	E067	18317
chr3	52715751	52715871	E067	20101
chr3	52715973	52716365	E067	20323
chr3	52718048	52718157	E067	22398
chr3	52718256	52718342	E067	22606
chr3	52737749	52737857	E067	42099
chr3	52738121	52738220	E067	42471
chr3	52738274	52738335	E067	42624
chr3	52738375	52738472	E067	42725
chr3	52715751	52715871	E068	20101
chr3	52715973	52716365	E068	20323
chr3	52716420	52716601	E068	20770
chr3	52716719	52716874	E068	21069
chr3	52717730	52717963	E068	22080
chr3	52718048	52718157	E068	22398
chr3	52718256	52718342	E068	22606
chr3	52713256	52713359	E069	17606
chr3	52713361	52713909	E069	17711
chr3	52713967	52714077	E069	18317
chr3	52715751	52715871	E069	20101
chr3	52715973	52716365	E069	20323
chr3	52716420	52716601	E069	20770
chr3	52716719	52716874	E069	21069
chr3	52718048	52718157	E069	22398
chr3	52718256	52718342	E069	22606
chr3	52737749	52737857	E069	42099
chr3	52738121	52738220	E069	42471
chr3	52738274	52738335	E069	42624
chr3	52738375	52738472	E069	42725
chr3	52715751	52715871	E070	20101
chr3	52715973	52716365	E070	20323
chr3	52717385	52717471	E070	21735
chr3	52718256	52718342	E070	22606
chr3	52722309	52722359	E070	26659
chr3	52737749	52737857	E070	42099
chr3	52738121	52738220	E070	42471
chr3	52738274	52738335	E070	42624
chr3	52738375	52738472	E070	42725
chr3	52713256	52713359	E071	17606
chr3	52713361	52713909	E071	17711
chr3	52713967	52714077	E071	18317
chr3	52715751	52715871	E071	20101
chr3	52715973	52716365	E071	20323
chr3	52716420	52716601	E071	20770
chr3	52717385	52717471	E071	21735
chr3	52717730	52717963	E071	22080
chr3	52718048	52718157	E071	22398
chr3	52718256	52718342	E071	22606
chr3	52738121	52738220	E071	42471
chr3	52738274	52738335	E071	42624
chr3	52738375	52738472	E071	42725
chr3	52713256	52713359	E072	17606
chr3	52713361	52713909	E072	17711
chr3	52715751	52715871	E072	20101
chr3	52715973	52716365	E072	20323
chr3	52716420	52716601	E072	20770
chr3	52716719	52716874	E072	21069
chr3	52718048	52718157	E072	22398
chr3	52718256	52718342	E072	22606
chr3	52737749	52737857	E072	42099
chr3	52738121	52738220	E072	42471
chr3	52738274	52738335	E072	42624
chr3	52738375	52738472	E072	42725
chr3	52713256	52713359	E073	17606
chr3	52713361	52713909	E073	17711
chr3	52713967	52714077	E073	18317
chr3	52718048	52718157	E073	22398
chr3	52718256	52718342	E073	22606
chr3	52737103	52737153	E073	41453
chr3	52737749	52737857	E073	42099
chr3	52738121	52738220	E073	42471
chr3	52738274	52738335	E073	42624
chr3	52738375	52738472	E073	42725
chr3	52713256	52713359	E074	17606
chr3	52713361	52713909	E074	17711
chr3	52713967	52714077	E074	18317
chr3	52715751	52715871	E074	20101
chr3	52715973	52716365	E074	20323
chr3	52716420	52716601	E074	20770
chr3	52716719	52716874	E074	21069
chr3	52718048	52718157	E074	22398
chr3	52718256	52718342	E074	22606
chr3	52738375	52738472	E074	42725
chr3	52716420	52716601	E081	20770
chr3	52716719	52716874	E081	21069
chr3	52717385	52717471	E081	21735
chr3	52717730	52717963	E081	22080
chr3	52718256	52718342	E081	22606
chr3	52737749	52737857	E081	42099
chr3	52738121	52738220	E081	42471
chr3	52738274	52738335	E081	42624
chr3	52738375	52738472	E081	42725
chr3	52717730	52717963	E082	22080
chr3	52718048	52718157	E082	22398
chr3	52737749	52737857	E082	42099
chr3	52738121	52738220	E082	42471

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr3	52719110	52719150	E067	23460
chr3	52719201	52720755	E067	23551
chr3	52739284	52740628	E067	43634
chr3	52740707	52740818	E067	45057
chr3	52740884	52740954	E067	45234
chr3	52719110	52719150	E068	23460
chr3	52719201	52720755	E068	23551
chr3	52739284	52740628	E068	43634
chr3	52740707	52740818	E068	45057
chr3	52740884	52740954	E068	45234
chr3	52719110	52719150	E069	23460
chr3	52719201	52720755	E069	23551
chr3	52739284	52740628	E069	43634
chr3	52740707	52740818	E069	45057
chr3	52740884	52740954	E069	45234
chr3	52719110	52719150	E070	23460
chr3	52719201	52720755	E070	23551
chr3	52739284	52740628	E070	43634
chr3	52740707	52740818	E070	45057
chr3	52740884	52740954	E070	45234
chr3	52719110	52719150	E071	23460
chr3	52719201	52720755	E071	23551
chr3	52739284	52740628	E071	43634
chr3	52740707	52740818	E071	45057
chr3	52740884	52740954	E071	45234
chr3	52719110	52719150	E072	23460
chr3	52719201	52720755	E072	23551
chr3	52739284	52740628	E072	43634
chr3	52740707	52740818	E072	45057
chr3	52740884	52740954	E072	45234
chr3	52719110	52719150	E073	23460
chr3	52719201	52720755	E073	23551
chr3	52739284	52740628	E073	43634
chr3	52740707	52740818	E073	45057
chr3	52740884	52740954	E073	45234
chr3	52719110	52719150	E074	23460
chr3	52719201	52720755	E074	23551
chr3	52739284	52740628	E074	43634
chr3	52740707	52740818	E074	45057
chr3	52740884	52740954	E074	45234
chr3	52719110	52719150	E081	23460
chr3	52739284	52740628	E081	43634
chr3	52740707	52740818	E081	45057
chr3	52740884	52740954	E081	45234
chr3	52719110	52719150	E082	23460
chr3	52719201	52720755	E082	23551
chr3	52739284	52740628	E082	43634
chr3	52740707	52740818	E082	45057
chr3	52740884	52740954	E082	45234