rs1419951

Organism: Homo sapiens

Alleles: C>T

Gene : Feature

PID1 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

C==0201 (6038/29940,GnomAD)
C==0203 (5936/29118,TOPMED)
C==0142 (710/5008,1000G)
C==0246 (949/3854,ALSPAC)
C==0251 (929/3708,TWINSUK)

Position: chr2:229134886 (GRCh38.p7) (2q36.3)

Phenotype: ND

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 137 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.229134886C>T
GRCh37.p13 chr 2	NC_000002.11:g.229999602C>T

Gene: PID1, phosphotyrosine interaction domain containing 1(minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
PID1 transcript variant 2	NM_001100818.1:c.	N/A	Intron Variant
PID1 transcript variant 1	NM_017933.4:c.	N/A	Intron Variant
PID1 transcript variant X3	XM_011511384.2:c.	N/A	Intron Variant
PID1 transcript variant X1	XM_017004404.1:c.	N/A	Intron Variant
PID1 transcript variant X2	XM_017004405.1:c.	N/A	Intron Variant
PID1 transcript variant X4	XM_017004406.1:c.	N/A	Intron Variant
PID1 transcript variant X5	XM_017004407.1:c.	N/A	Intron Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	C=0.206	T=0.794
1000Genomes	American	Sub	694	C=0.170	T=0.830
1000Genomes	East Asian	Sub	1008	C=0.001	T=0.999
1000Genomes	Europe	Sub	1006	C=0.239	T=0.761
1000Genomes	Global	Study-wide	5008	C=0.142	T=0.858
1000Genomes	South Asian	Sub	978	C=0.080	T=0.920
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.246	T=0.754
The Genome Aggregation Database	African	Sub	8718	C=0.198	T=0.802
The Genome Aggregation Database	American	Sub	838	C=0.150	T=0.850
The Genome Aggregation Database	East Asian	Sub	1620	C=0.000	T=1.000
The Genome Aggregation Database	Europe	Sub	18464	C=0.221	T=0.778
The Genome Aggregation Database	Global	Study-wide	29940	C=0.201	T=0.798
The Genome Aggregation Database	Other	Sub	300	C=0.280	T=0.720
Trans-Omics for Precision Medicine	Global	Study-wide	29118	C=0.203	T=0.796
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.251	T=0.749

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
rs1419951	0.000857	nicotine smoking	19268276

eQTL of rs1419951 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 rs1419951 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	229953141	229953416	E067	-46186
chr2	229953456	229953553	E067	-46049
chr2	229953588	229953638	E067	-45964
chr2	229953816	229954111	E067	-45491
chr2	230043781	230043835	E067	44179
chr2	229951965	229952028	E068	-47574
chr2	229952039	229952193	E068	-47409
chr2	229952283	229952385	E068	-47217
chr2	229952586	229953133	E068	-46469
chr2	230026841	230027034	E068	27239
chr2	229951406	229951571	E070	-48031
chr2	229951965	229952028	E070	-47574
chr2	229952039	229952193	E070	-47409
chr2	229952283	229952385	E070	-47217
chr2	229952586	229953133	E070	-46469
chr2	229953141	229953416	E070	-46186
chr2	229953456	229953553	E070	-46049
chr2	229953588	229953638	E070	-45964
chr2	229953816	229954111	E070	-45491
chr2	229954348	229954815	E070	-44787
chr2	229954826	229954972	E070	-44630
chr2	229955065	229955245	E070	-44357
chr2	229955257	229955382	E070	-44220
chr2	229959789	229959839	E070	-39763
chr2	229960280	229960509	E070	-39093
chr2	229960789	229960839	E070	-38763
chr2	229972851	229972921	E070	-26681
chr2	229973025	229973134	E070	-26468
chr2	229974004	229974251	E070	-25351
chr2	229976522	229976589	E070	-23013
chr2	229994279	229994335	E070	-5267
chr2	229994408	229995141	E070	-4461
chr2	229995233	229995557	E070	-4045
chr2	230001949	230002017	E070	2347
chr2	230002400	230002857	E070	2798
chr2	230018024	230018432	E070	18422
chr2	230018598	230018673	E070	18996
chr2	230018709	230018804	E070	19107
chr2	230024615	230024811	E070	25013
chr2	230024893	230025364	E070	25291
chr2	230025441	230025491	E070	25839
chr2	230026841	230027034	E070	27239
chr2	230027237	230027333	E070	27635
chr2	230028241	230028365	E070	28639
chr2	230028406	230028486	E070	28804
chr2	230028529	230028618	E070	28927
chr2	230028720	230028828	E070	29118
chr2	230029171	230029255	E070	29569
chr2	230029267	230029339	E070	29665
chr2	230029354	230029450	E070	29752
chr2	230029466	230029611	E070	29864
chr2	230029714	230029808	E070	30112
chr2	230043781	230043835	E070	44179
chr2	230044451	230044596	E070	44849
chr2	230044656	230044775	E070	45054
chr2	229952586	229953133	E071	-46469
chr2	229953141	229953416	E071	-46186
chr2	229953456	229953553	E071	-46049
chr2	229953588	229953638	E071	-45964
chr2	229953816	229954111	E071	-45491
chr2	229954348	229954815	E071	-44787
chr2	229994408	229995141	E071	-4461
chr2	230017260	230017770	E071	17658
chr2	229952586	229953133	E072	-46469
chr2	229953141	229953416	E072	-46186
chr2	229953456	229953553	E072	-46049
chr2	229953588	229953638	E072	-45964
chr2	229953816	229954111	E072	-45491
chr2	230017260	230017770	E072	17658
chr2	229951965	229952028	E074	-47574
chr2	229952039	229952193	E074	-47409
chr2	229952283	229952385	E074	-47217
chr2	229955065	229955245	E074	-44357
chr2	229951406	229951571	E081	-48031
chr2	229951965	229952028	E081	-47574
chr2	229952039	229952193	E081	-47409
chr2	229952283	229952385	E081	-47217
chr2	229952586	229953133	E081	-46469
chr2	229953141	229953416	E081	-46186
chr2	229953456	229953553	E081	-46049
chr2	229953588	229953638	E081	-45964
chr2	229953816	229954111	E081	-45491
chr2	229954348	229954815	E081	-44787
chr2	229954826	229954972	E081	-44630
chr2	229955065	229955245	E081	-44357
chr2	229955257	229955382	E081	-44220
chr2	229959789	229959839	E081	-39763
chr2	229960280	229960509	E081	-39093
chr2	229960789	229960839	E081	-38763
chr2	229963413	229963790	E081	-35812
chr2	229969524	229970117	E081	-29485
chr2	229972851	229972921	E081	-26681
chr2	229973025	229973134	E081	-26468
chr2	229974004	229974251	E081	-25351
chr2	229974564	229974614	E081	-24988
chr2	229974725	229974775	E081	-24827
chr2	230001949	230002017	E081	2347
chr2	230002400	230002857	E081	2798
chr2	230026841	230027034	E081	27239
chr2	230027237	230027333	E081	27635
chr2	230028241	230028365	E081	28639
chr2	230028406	230028486	E081	28804
chr2	230028529	230028618	E081	28927
chr2	230028720	230028828	E081	29118
chr2	229951406	229951571	E082	-48031
chr2	229952586	229953133	E082	-46469
chr2	229953141	229953416	E082	-46186
chr2	229953456	229953553	E082	-46049
chr2	229953588	229953638	E082	-45964
chr2	229953816	229954111	E082	-45491
chr2	229954348	229954815	E082	-44787
chr2	229954826	229954972	E082	-44630
chr2	229955065	229955245	E082	-44357
chr2	229955257	229955382	E082	-44220
chr2	229959789	229959839	E082	-39763
chr2	229960280	229960509	E082	-39093
chr2	229960789	229960839	E082	-38763
chr2	229963413	229963790	E082	-35812
chr2	229963839	229963908	E082	-35694
chr2	229963964	229964422	E082	-35180
chr2	229969524	229970117	E082	-29485
chr2	229972851	229972921	E082	-26681
chr2	229973025	229973134	E082	-26468
chr2	229974004	229974251	E082	-25351
chr2	229974564	229974614	E082	-24988
chr2	229974725	229974775	E082	-24827
chr2	229994279	229994335	E082	-5267
chr2	229994408	229995141	E082	-4461
chr2	230025441	230025491	E082	25839
chr2	230027237	230027333	E082	27635
chr2	230028241	230028365	E082	28639
chr2	230028406	230028486	E082	28804
chr2	230028529	230028618	E082	28927
chr2	230028720	230028828	E082	29118
chr2	230029171	230029255	E082	29569
chr2	230029267	230029339	E082	29665
chr2	230029354	230029450	E082	29752