Variant report

Variant	rs4730773
Chromosome Location	chr7:116911986-116911987
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	7:115890993-115892266..7:116894301-116914960	GM12878	blood:
2	7:116754962-116765597..7:116894301-116914960	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000135269	Chromatin interaction
ENSG00000004866	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10226248	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11981089	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12706145	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13224335	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13227482	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13246951	0.82[ASN][1000 genomes]
rs2215552	0.80[ASN][1000 genomes]
rs2402176	0.86[ASN][1000 genomes]
rs2402177	0.80[ASN][1000 genomes]
rs34911130	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3735646	0.92[ASN][1000 genomes]
rs38902	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs38909	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs38916	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4727845	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4730775	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6944152	0.82[ASN][1000 genomes]
rs6950776	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6951125	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7795841	0.82[ASN][1000 genomes]
rs887573	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9691008	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9692365	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831108	chr7:116749534-116952011	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116909200-116912000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr7:116909600-116920400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr7:116910400-116913000	Enhancers	NHDF-Ad	bronchial
4	chr7:116910600-116912400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:116910600-116912400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:116910800-116912000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr7:116910800-116912800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr7:116910800-116915000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr7:116911000-116913200	Weak transcription	HMEC	breast
10	chr7:116911000-116913600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr7:116911200-116912400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr7:116911200-116913200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr7:116911200-116913200	Weak transcription	NHEK	skin
14	chr7:116911200-116913600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr7:116911200-116915000	Weak transcription	NHLF	lung
16	chr7:116911600-116912200	Enhancers	Osteobl	bone

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