Variant report

Variant	rs944472
Chromosome Location	chr9:110657726-110657727
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:110656736..110659365-chr9:110662129..110664911,2	K562	blood:
2	chr9:110251858..110254547-chr9:110657467..110659406,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136826	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10816583	0.83[ASN][1000 genomes]
rs10979086	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12552179	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1815439	0.87[EUR][1000 genomes]
rs4509400	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7035211	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7036874	0.80[CEU][hapmap];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051101	chr9:110548257-110697253	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv893701	chr9:110650482-110709587	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs944472	OR13C2	cis	cerebellum	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:110644800-110658800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr9:110656200-110659400	Enhancers	Fetal Stomach	stomach
3	chr9:110656600-110658800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr9:110656600-110659200	Enhancers	Rectal Smooth Muscle	rectum
5	chr9:110656600-110659400	Enhancers	Fetal Muscle Leg	muscle
6	chr9:110656800-110658000	Enhancers	Placenta	Placenta
7	chr9:110656800-110659000	Enhancers	Colon Smooth Muscle	Colon
8	chr9:110656800-110659400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr9:110657000-110658000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr9:110657000-110658200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr9:110657000-110658200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr9:110657000-110658400	Enhancers	Ovary	ovary
13	chr9:110657000-110658400	Enhancers	NHDF-Ad	bronchial
14	chr9:110657200-110658200	Enhancers	Adipose Nuclei	Adipose
15	chr9:110657200-110658200	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr9:110657200-110659800	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr9:110657200-110660800	Weak transcription	Fetal Intestine Small	intestine
18	chr9:110657200-110661200	Weak transcription	Duodenum Mucosa	Duodenum
19	chr9:110657200-110661600	Weak transcription	Fetal Muscle Trunk	muscle
20	chr9:110657600-110657800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr9:110657600-110658000	Enhancers	Stomach Smooth Muscle	stomach
22	chr9:110657600-110658600	Enhancers	Fetal Lung	lung
23	chr9:110657600-110659200	Enhancers	HMEC	breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links