Variant report

Variant	rs12706145
Chromosome Location	chr7:116910616-116910617
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
ENSG00000004866	Chromatin interaction
ENSG00000135269	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10226248	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10226864	0.84[CHB][hapmap];0.84[JPT][hapmap]
rs10235236	0.84[CHB][hapmap];0.83[CHD][hapmap];0.84[JPT][hapmap]
rs10245615	1.00[CEU][hapmap];0.83[CHB][hapmap];0.84[JPT][hapmap]
rs10255896	0.84[CHB][hapmap];0.84[JPT][hapmap]
rs10256129	0.84[CHB][hapmap];0.83[CHD][hapmap];0.84[JPT][hapmap]
rs10280067	0.84[CHB][hapmap];0.83[CHD][hapmap];0.84[JPT][hapmap]
rs11981089	0.96[CEU][hapmap];0.84[CHB][hapmap];0.90[CHD][hapmap];0.85[GIH][hapmap];0.84[JPT][hapmap];0.95[MEX][hapmap];0.89[TSI][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13224335	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13227482	0.90[AMR][1000 genomes];0.97[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	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3735646	0.92[ASN][1000 genomes]
rs38902	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs38909	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs38916	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4727845	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4730773	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730775	0.96[CEU][hapmap];0.92[CHB][hapmap];0.92[CHD][hapmap];0.94[GIH][hapmap];0.88[JPT][hapmap];0.86[MEX][hapmap];0.96[MKK][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6466605	0.83[CHB][hapmap];0.83[CHD][hapmap];0.84[JPT][hapmap]
rs6466606	0.84[CHB][hapmap];0.84[JPT][hapmap]
rs6466607	0.84[CHB][hapmap];0.84[JPT][hapmap]
rs6942558	0.84[CHB][hapmap];0.84[JPT][hapmap]
rs6944152	0.82[ASN][1000 genomes]
rs6950776	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6951125	0.96[CEU][hapmap];0.92[CHB][hapmap];0.97[CHD][hapmap];0.94[GIH][hapmap];0.88[JPT][hapmap];0.91[MEX][hapmap];0.94[MKK][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6958283	0.84[CHB][hapmap];0.83[CHD][hapmap];0.84[JPT][hapmap]
rs6974937	0.84[CHB][hapmap];0.84[JPT][hapmap]
rs7776963	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs7795841	0.82[ASN][1000 genomes]
rs887573	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9691008	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9692365	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116909000-116911000	Enhancers	HMEC	breast
2	chr7:116909200-116910800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr7:116909200-116910800	Enhancers	HUVEC	blood vessel
4	chr7:116909200-116911000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr7:116909200-116911200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:116909200-116911200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:116909200-116912000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr7:116909400-116910800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr7:116909600-116920400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr7:116910000-116910800	Enhancers	HSMM	muscle
11	chr7:116910000-116910800	Enhancers	HSMMtube	muscle
12	chr7:116910000-116911000	Enhancers	NH-A	brain
13	chr7:116910000-116911200	Enhancers	Osteobl	bone
14	chr7:116910400-116910800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr7:116910400-116910800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr7:116910400-116911200	Enhancers	NHLF	lung
17	chr7:116910400-116913000	Enhancers	NHDF-Ad	bronchial
18	chr7:116910600-116910800	Enhancers	Hela-S3	cervix
19	chr7:116910600-116911000	Enhancers	Muscle Satellite Cultured Cells	--
20	chr7:116910600-116911200	Enhancers	NHEK	skin
21	chr7:116910600-116912400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr7:116910600-116912400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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