rs10432656

Organism: Homo sapiens

Alleles: C>T

Gene : Feature

LTBP1 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

T=0038 (1141/29976,GnomAD)
T=0037 (1102/29116,TOPMED)
T=0056 (279/5008,1000G)
T=0067 (259/3854,ALSPAC)
T=0056 (207/3708,TWINSUK)

Position: chr2:33149965 (GRCh38.p7) (2p22.3)

Phenotype: ND

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 20 Enhancers around

Promoter: 40 Promoters around

Sequence Name	Change(s)
GRCh38.p7 chr 2	NC_000002.12:g.33149965C>T
GRCh37.p13 chr 2	NC_000002.11:g.33375032C>T

Molecule type	Change	Amino acid[Codon]	SO Term
LTBP1 transcript variant 2	NM_000627.3:c.	N/A	Intron Variant
LTBP1 transcript variant 4	NM_001166264.1:c.	N/A	Intron Variant
LTBP1 transcript variant 3	NM_001166265.1:c.	N/A	Intron Variant
LTBP1 transcript variant 5	NM_001166266.1:c.	N/A	Intron Variant
LTBP1 transcript variant 1	NM_206943.2:c.	N/A	Intron Variant
LTBP1 transcript variant X9	XM_005264317.3:c.	N/A	Intron Variant
LTBP1 transcript variant X13	XM_005264318.3:c.	N/A	Intron Variant
LTBP1 transcript variant X1	XM_011532853.2:c.	N/A	Intron Variant
LTBP1 transcript variant X2	XM_011532855.2:c.	N/A	Intron Variant
LTBP1 transcript variant X3	XM_011532856.2:c.	N/A	Intron Variant
LTBP1 transcript variant X5	XM_011532857.2:c.	N/A	Intron Variant
LTBP1 transcript variant X6	XM_011532858.2:c.	N/A	Intron Variant
LTBP1 transcript variant X8	XM_011532859.2:c.	N/A	Intron Variant
LTBP1 transcript variant X10	XM_011532860.2:c.	N/A	Intron Variant
LTBP1 transcript variant X12	XM_011532861.2:c.	N/A	Intron Variant
LTBP1 transcript variant X17	XM_011532862.2:c.	N/A	Intron Variant
LTBP1 transcript variant X4	XM_017004108.1:c.	N/A	Intron Variant
LTBP1 transcript variant X7	XM_017004109.1:c.	N/A	Intron Variant
LTBP1 transcript variant X11	XM_017004110.1:c.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	C=0.988	T=0.012
1000Genomes	American	Sub	694	C=0.960	T=0.040
1000Genomes	East Asian	Sub	1008	C=0.927	T=0.073
1000Genomes	Europe	Sub	1006	C=0.929	T=0.071
1000Genomes	Global	Study-wide	5008	C=0.944	T=0.056
1000Genomes	South Asian	Sub	978	C=0.910	T=0.090
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.933	T=0.067
The Genome Aggregation Database	African	Sub	8726	C=0.984	T=0.016
The Genome Aggregation Database	American	Sub	838	C=0.960	T=0.040
The Genome Aggregation Database	East Asian	Sub	1620	C=0.931	T=0.069
The Genome Aggregation Database	Europe	Sub	18490	C=0.955	T=0.044
The Genome Aggregation Database	Global	Study-wide	29976	C=0.961	T=0.038
The Genome Aggregation Database	Other	Sub	302	C=0.870	T=0.130
Trans-Omics for Precision Medicine	Global	Study-wide	29116	C=0.962	T=0.037
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.944	T=0.056

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

SNP ID	p-value	Traits	Study
rs10432656	0.000956	nicotine smoking	19268276

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
There is no eQTL annotation for this SNP

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	33367975	33368362	E069	-6670
chr2	33422690	33422779	E069	47658
chr2	33356074	33356268	E070	-18764
chr2	33356290	33356475	E070	-18557
chr2	33356548	33356611	E070	-18421
chr2	33356871	33357209	E070	-17823
chr2	33357463	33357519	E070	-17513
chr2	33357642	33357779	E070	-17253
chr2	33357956	33358435	E070	-16597
chr2	33368602	33368667	E071	-6365
chr2	33368712	33368752	E071	-6280
chr2	33369449	33369600	E071	-5432
chr2	33422439	33422561	E071	47407
chr2	33422690	33422779	E071	47658
chr2	33422439	33422561	E072	47407
chr2	33422690	33422779	E072	47658
chr2	33374434	33374672	E074	-360
chr2	33374732	33374939	E074	-93
chr2	33375172	33375223	E074	140
chr2	33366660	33366881	E081	-8151

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr2	33358481	33360258	E067	-14774
chr2	33360425	33360602	E067	-14430
chr2	33360778	33360981	E067	-14051
chr2	33361034	33361248	E067	-13784
chr2	33361289	33361411	E067	-13621
chr2	33361684	33361907	E067	-13125
chr2	33358481	33360258	E068	-14774
chr2	33360425	33360602	E068	-14430
chr2	33360778	33360981	E068	-14051
chr2	33361034	33361248	E068	-13784
chr2	33361289	33361411	E068	-13621
chr2	33358481	33360258	E069	-14774
chr2	33360425	33360602	E069	-14430
chr2	33360778	33360981	E069	-14051
chr2	33361034	33361248	E069	-13784
chr2	33358481	33360258	E070	-14774
chr2	33361034	33361248	E070	-13784
chr2	33358481	33360258	E071	-14774
chr2	33360425	33360602	E071	-14430
chr2	33360778	33360981	E071	-14051
chr2	33361034	33361248	E071	-13784
chr2	33361289	33361411	E071	-13621
chr2	33361684	33361907	E071	-13125
chr2	33358481	33360258	E072	-14774
chr2	33360425	33360602	E072	-14430
chr2	33360778	33360981	E072	-14051
chr2	33361034	33361248	E072	-13784
chr2	33361289	33361411	E072	-13621
chr2	33358481	33360258	E073	-14774
chr2	33358481	33360258	E074	-14774
chr2	33360425	33360602	E074	-14430
chr2	33360778	33360981	E074	-14051
chr2	33361034	33361248	E074	-13784
chr2	33360425	33360602	E081	-14430
chr2	33360778	33360981	E081	-14051
chr2	33361034	33361248	E081	-13784
chr2	33361289	33361411	E081	-13621
chr2	33361684	33361907	E081	-13125
chr2	33360425	33360602	E082	-14430
chr2	33360778	33360981	E082	-14051