Variant report

Variant	rs2056132
Chromosome Location	chr17:45333396-45333397
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:45331567..45334832-chr17:45348369..45350446,3	K562	blood:
2	chr17:45332159..45334737-chr17:45364459..45366214,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16941731	0.85[AMR][1000 genomes]
rs16941733	0.85[AMR][1000 genomes]
rs34251886	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4289057	0.92[EUR][1000 genomes]
rs67972765	0.85[AMR][1000 genomes]
rs7208055	0.95[EUR][1000 genomes]
rs8080989	0.91[AMR][1000 genomes];0.88[EUR][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	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45330800-45333400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr17:45331800-45334800	Weak transcription	Hela-S3	cervix
3	chr17:45332000-45334000	Weak transcription	HSMMtube	muscle
4	chr17:45332200-45333800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr17:45332200-45334000	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr17:45332200-45335000	Weak transcription	Right Atrium	heart
7	chr17:45332200-45335000	Weak transcription	GM12878-XiMat	blood
8	chr17:45332200-45335200	Weak transcription	Ovary	ovary
9	chr17:45332200-45335400	Weak transcription	Fetal Heart	heart
10	chr17:45332200-45336000	Weak transcription	Spleen	Spleen
11	chr17:45332400-45333600	Weak transcription	Aorta	Aorta
12	chr17:45332400-45334200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr17:45332400-45334200	Weak transcription	HSMM	muscle
14	chr17:45332400-45334400	Weak transcription	Adipose Nuclei	Adipose
15	chr17:45332400-45334400	Weak transcription	NH-A	brain
16	chr17:45332400-45334400	Weak transcription	NHLF	lung
17	chr17:45332400-45334800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr17:45332800-45334400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr17:45332800-45334800	Enhancers	Osteobl	bone
20	chr17:45332800-45335200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr17:45333000-45333400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr17:45333000-45333400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr17:45333000-45333400	Flanking Active TSS	Colon Smooth Muscle	Colon
24	chr17:45333000-45333600	Active TSS	Small Intestine	intestine
25	chr17:45333000-45333800	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr17:45333000-45335000	Enhancers	K562	blood
27	chr17:45333200-45333600	Weak transcription	Left Ventricle	heart
28	chr17:45333200-45333800	Enhancers	Rectal Smooth Muscle	rectum
29	chr17:45333200-45334000	Enhancers	Placenta	Placenta
30	chr17:45333200-45334200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr17:45333200-45334600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr17:45333200-45334800	Enhancers	NHDF-Ad	bronchial
33	chr17:45333200-45335000	Enhancers	HUVEC	blood vessel
34	chr17:45333200-45344600	Weak transcription	Stomach Smooth Muscle	stomach

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