SNP Detail Info-rs4727494

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

COL26A1 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G==0411 (12181/29630,GnomAD)
G==0471 (2360/5008,1000G)
G==0252 (973/3854,ALSPAC)
G==0234 (869/3708,TWINSUK)

Position: chr7:101438517 (GRCh38.p7) (7q22.1)

Phenotype: ND

Dataset:

GWASdb2

Publications: 3 publication(s)

Genomic View: See rs on genome

Enhancer: 6 Enhancers around

Promoter: 0 Promoter around

Molecule type	Change	Amino acid[Codon]	SO Term
COL26A1 transcript variant 1	NM_001278563.2:c.	N/A	Intron Variant
COL26A1 transcript variant 2	NM_133457.4:c.	N/A	Intron Variant
COL26A1 transcript variant X1	XM_017011743.1:c.	N/A	Intron Variant
COL26A1 transcript variant X2	XM_017011744.1:c.	N/A	Intron Variant
COL26A1 transcript variant X3	XM_017011745.1:c.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.771	A=0.229
1000Genomes	American	Sub	694	G=0.230	A=0.770
1000Genomes	East Asian	Sub	1008	G=0.641	A=0.359
1000Genomes	Europe	Sub	1006	G=0.247	A=0.753
1000Genomes	Global	Study-wide	5008	G=0.471	A=0.529
1000Genomes	South Asian	Sub	978	G=0.290	A=0.710
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.252	A=0.748
The Genome Aggregation Database	African	Sub	8670	G=0.700	A=0.300
The Genome Aggregation Database	American	Sub	830	G=0.200	A=0.800
The Genome Aggregation Database	East Asian	Sub	1600	G=0.624	A=0.376
The Genome Aggregation Database	Europe	Sub	18230	G=0.268	A=0.731
The Genome Aggregation Database	Global	Study-wide	29630	G=0.411	A=0.588
The Genome Aggregation Database	Other	Sub	300	G=0.200	A=0.800
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.234	A=0.766

PMID	Title	Author	Journal
22217332	Possible role of EMID2 on nasal polyps pathogenesis in Korean asthma patients.	Pasaje CF	BMC Med Genet
19268276	Genome-wide association study of smoking initiation and current smoking.	Vink JM	Am J Hum Genet
21086123	A possible association of EMID2 polymorphisms with aspirin hypersensitivity in asthma.	Pasaje CF	Immunogenetics

SNP ID	p-value	Traits	Study
rs4727494	0.000979	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

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr7	101129474	101130683	E070	47676
chr7	101042995	101043097	E073	-38701
chr7	101044587	101044698	E073	-37100
chr7	101110203	101110494	E073	28405
chr7	101110029	101110135	E081	28231
chr7	101110203	101110494	E081	28405

rs4727494