rs11127182

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

PLB1 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0279 (8354/29892,GnomAD)
G=0324 (9455/29116,TOPMED)
G=0228 (1142/5008,1000G)
G=0231 (889/3854,ALSPAC)
G=0227 (843/3708,TWINSUK)

Position: chr2:28628249 (GRCh38.p7) (2p23.2)

Phenotype: ND

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 115 Enhancers around

Promoter: 0 Promoter around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 2	NC_000002.12:g.28628249A>G
GRCh37.p13 chr 2	NC_000002.11:g.28851116A>G

Gene: PLB1, phospholipase B1(plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
PLB1 transcript variant 2	NM_001170585.1:c.	N/A	Intron Variant
PLB1 transcript variant 1	NM_153021.4:c.	N/A	Intron Variant
PLB1 transcript variant X2	XM_011532579.2:c.	N/A	Intron Variant
PLB1 transcript variant X4	XM_011532581.2:c.	N/A	Intron Variant
PLB1 transcript variant X6	XM_011532584.2:c.	N/A	Intron Variant
PLB1 transcript variant X8	XM_011532588.2:c.	N/A	Intron Variant
PLB1 transcript variant X1	XM_011532589.2:c.	N/A	Intron Variant
PLB1 transcript variant X9	XM_011532590.2:c.	N/A	Intron Variant
PLB1 transcript variant X10	XM_011532591.2:c.	N/A	Intron Variant
PLB1 transcript variant X7	XM_011532593.2:c.	N/A	Intron Variant
PLB1 transcript variant X14	XM_011532601.2:c.	N/A	Intron Variant
PLB1 transcript variant X16	XM_011532602.2:c.	N/A	Intron Variant
PLB1 transcript variant X15	XM_011532603.2:c.	N/A	Intron Variant
PLB1 transcript variant X20	XM_011532609.2:c.	N/A	Intron Variant
PLB1 transcript variant X21	XM_011532610.2:c.	N/A	Intron Variant
PLB1 transcript variant X3	XM_017003432.1:c.	N/A	Intron Variant
PLB1 transcript variant X5	XM_017003433.1:c.	N/A	Intron Variant
PLB1 transcript variant X11	XM_017003434.1:c.	N/A	Intron Variant
PLB1 transcript variant X18	XM_011532606.2:c.	N/A	Genic Downstream Transcript Variant
PLB1 transcript variant X19	XM_011532607.2:c.	N/A	Genic Downstream Transcript Variant
PLB1 transcript variant X22	XM_011532608.2:c.	N/A	Genic Downstream Transcript Variant
PLB1 transcript variant X13	XR_001738646.1:n.	N/A	Intron Variant
PLB1 transcript variant X17	XR_001738647.1:n.	N/A	Intron Variant
PLB1 transcript variant X12	XR_939663.2:n.	N/A	Intron Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.528	G=0.472
1000Genomes	American	Sub	694	A=0.810	G=0.190
1000Genomes	East Asian	Sub	1008	A=0.943	G=0.057
1000Genomes	Europe	Sub	1006	A=0.782	G=0.218
1000Genomes	Global	Study-wide	5008	A=0.772	G=0.228
1000Genomes	South Asian	Sub	978	A=0.890	G=0.110
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.769	G=0.231
The Genome Aggregation Database	African	Sub	8698	A=0.563	G=0.437
The Genome Aggregation Database	American	Sub	836	A=0.850	G=0.150
The Genome Aggregation Database	East Asian	Sub	1622	A=0.939	G=0.061
The Genome Aggregation Database	Europe	Sub	18434	A=0.770	G=0.229
The Genome Aggregation Database	Global	Study-wide	29892	A=0.720	G=0.279
The Genome Aggregation Database	Other	Sub	302	A=0.720	G=0.280
Trans-Omics for Precision Medicine	Global	Study-wide	29116	A=0.675	G=0.324
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.773	G=0.227

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
rs11127182	0.000277	nicotine smoking	19268276

eQTL of rs11127182 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 rs11127182 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 )
chr2	28806331	28808115	E067	-43001
chr2	28810497	28811513	E067	-39603
chr2	28816876	28818270	E067	-32846
chr2	28830639	28830712	E067	-20404
chr2	28830742	28830861	E067	-20255
chr2	28843402	28843483	E067	-7633
chr2	28843538	28843768	E067	-7348
chr2	28843786	28843852	E067	-7264
chr2	28843890	28845243	E067	-5873
chr2	28847467	28848802	E067	-2314
chr2	28886964	28887596	E067	35848
chr2	28887639	28887749	E067	36523
chr2	28887836	28888536	E067	36720
chr2	28806331	28808115	E068	-43001
chr2	28809822	28810193	E068	-40923
chr2	28810497	28811513	E068	-39603
chr2	28816876	28818270	E068	-32846
chr2	28843118	28843382	E068	-7734
chr2	28843402	28843483	E068	-7633
chr2	28843538	28843768	E068	-7348
chr2	28843786	28843852	E068	-7264
chr2	28845251	28845377	E068	-5739
chr2	28845423	28845528	E068	-5588
chr2	28847467	28848802	E068	-2314
chr2	28857837	28858630	E068	6721
chr2	28858777	28858835	E068	7661
chr2	28886237	28886642	E068	35121
chr2	28886803	28886873	E068	35687
chr2	28886964	28887596	E068	35848
chr2	28887639	28887749	E068	36523
chr2	28887836	28888536	E068	36720
chr2	28893631	28894100	E068	42515
chr2	28806331	28808115	E069	-43001
chr2	28829722	28830527	E069	-20589
chr2	28830639	28830712	E069	-20404
chr2	28830742	28830861	E069	-20255
chr2	28843118	28843382	E069	-7734
chr2	28843402	28843483	E069	-7633
chr2	28843538	28843768	E069	-7348
chr2	28843786	28843852	E069	-7264
chr2	28843890	28845243	E069	-5873
chr2	28886964	28887596	E069	35848
chr2	28887639	28887749	E069	36523
chr2	28887836	28888536	E069	36720
chr2	28866304	28866530	E070	15188
chr2	28886803	28886873	E070	35687
chr2	28886964	28887596	E070	35848
chr2	28887639	28887749	E070	36523
chr2	28887836	28888536	E070	36720
chr2	28888682	28888751	E070	37566
chr2	28893631	28894100	E070	42515
chr2	28806331	28808115	E071	-43001
chr2	28843118	28843382	E071	-7734
chr2	28843402	28843483	E071	-7633
chr2	28843538	28843768	E071	-7348
chr2	28843786	28843852	E071	-7264
chr2	28843890	28845243	E071	-5873
chr2	28847467	28848802	E071	-2314
chr2	28886803	28886873	E071	35687
chr2	28886964	28887596	E071	35848
chr2	28887639	28887749	E071	36523
chr2	28887836	28888536	E071	36720
chr2	28806331	28808115	E072	-43001
chr2	28810497	28811513	E072	-39603
chr2	28816876	28818270	E072	-32846
chr2	28843402	28843483	E072	-7633
chr2	28843538	28843768	E072	-7348
chr2	28843786	28843852	E072	-7264
chr2	28843890	28845243	E072	-5873
chr2	28847467	28848802	E072	-2314
chr2	28856569	28857095	E072	5453
chr2	28887639	28887749	E072	36523
chr2	28887836	28888536	E072	36720
chr2	28806331	28808115	E073	-43001
chr2	28810497	28811513	E073	-39603
chr2	28816876	28818270	E073	-32846
chr2	28830639	28830712	E073	-20404
chr2	28830742	28830861	E073	-20255
chr2	28843118	28843382	E073	-7734
chr2	28843402	28843483	E073	-7633
chr2	28843538	28843768	E073	-7348
chr2	28843786	28843852	E073	-7264
chr2	28843890	28845243	E073	-5873
chr2	28847467	28848802	E073	-2314
chr2	28850484	28850630	E073	-486
chr2	28850667	28850859	E073	-257
chr2	28850893	28851231	E073	0
chr2	28857837	28858630	E073	6721
chr2	28884221	28886035	E073	33105
chr2	28886803	28886873	E073	35687
chr2	28886964	28887596	E073	35848
chr2	28887639	28887749	E073	36523
chr2	28887836	28888536	E073	36720
chr2	28806331	28808115	E074	-43001
chr2	28816876	28818270	E074	-32846
chr2	28843118	28843382	E074	-7734
chr2	28843402	28843483	E074	-7633
chr2	28843538	28843768	E074	-7348
chr2	28843786	28843852	E074	-7264
chr2	28843890	28845243	E074	-5873
chr2	28845251	28845377	E074	-5739
chr2	28847467	28848802	E074	-2314
chr2	28852140	28852278	E074	1024
chr2	28886964	28887596	E074	35848
chr2	28887836	28888536	E074	36720
chr2	28829722	28830527	E081	-20589
chr2	28830639	28830712	E081	-20404
chr2	28830742	28830861	E081	-20255
chr2	28830915	28831589	E081	-19527
chr2	28829722	28830527	E082	-20589
chr2	28830639	28830712	E082	-20404
chr2	28830742	28830861	E082	-20255
chr2	28830915	28831589	E082	-19527
chr2	28843890	28845243	E082	-5873
chr2	28887836	28888536	E082	36720