Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:45418856..45421391-chr11:45421484..45423655,2	K562	blood:

Variant related genes	Relation type
ENSG00000254651	Chromatin interaction

rSNPs within LD-proxies of this variant (count:17)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530619	chr11:45294176-45553928	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv306	chr11:45414044-45444431	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
3	esv1812422	chr11:45419113-45431510	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
4	nsv1045831	chr11:45419113-45580407	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45405400-45434800	Weak transcription	Right Atrium	heart
2	chr11:45416000-45423400	Weak transcription	Spleen	Spleen
3	chr11:45420200-45423800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:45421000-45423200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr11:45421000-45423200	Enhancers	Osteobl	bone
6	chr11:45421000-45423400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr11:45421200-45423200	Enhancers	HUVEC	blood vessel
8	chr11:45421400-45423200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr11:45421400-45423200	Enhancers	NHDF-Ad	bronchial
10	chr11:45421600-45423200	Bivalent Enhancer	HepG2	liver
11	chr11:45421600-45423200	Enhancers	NHLF	lung
12	chr11:45421800-45431600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr11:45422000-45428200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr11:45422000-45428800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr11:45422000-45431600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr11:45422600-45423200	Enhancers	NH-A	brain
17	chr11:45422600-45423800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr11:45422800-45423200	Enhancers	Muscle Satellite Cultured Cells	--
19	chr11:45423000-45423200	Enhancers	Lung	lung
20	chr11:45423000-45423800	Enhancers	HSMM	muscle

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