Variant report

No.	Distal block	Cell Line	Cell type
1	chr2:54948600..54951021-chr2:54954869..54956715,2	K562	blood:
2	chr2:54956388..54959275-chr2:55046945..55049769,2	MCF-7	breast:
3	chr2:54938681..54941636-chr2:54954497..54956730,2	K562	blood:
4	chr2:54948698..54952198-chr2:54955157..54959023,4	K562	blood:

Variant related genes	Relation type
ENSG00000214595	Chromatin interaction

rSNPs within LD-proxies of this variant (count:25)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv582024	chr2:54894649-54999712	Active TSS Bivalent Enhancer Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1005449	chr2:54938633-55129503	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54953600-54956600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr2:54954600-54958600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr2:54954600-54965000	Weak transcription	Fetal Intestine Small	intestine
4	chr2:54954800-54956800	Enhancers	HepG2	liver
5	chr2:54955000-54956800	Enhancers	Muscle Satellite Cultured Cells	--
6	chr2:54955000-54956800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr2:54955200-54956600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr2:54955200-54956600	Enhancers	NH-A	brain
9	chr2:54955200-54956800	Enhancers	HSMM	muscle
10	chr2:54955400-54956600	Enhancers	NHEK	skin
11	chr2:54955400-54956600	Enhancers	NHLF	lung
12	chr2:54955400-54956600	Enhancers	Osteobl	bone
13	chr2:54955400-54956800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:54955400-54956800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:54955400-54956800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:54955400-54956800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:54955400-54956800	Enhancers	HMEC	breast
18	chr2:54955400-54956800	Enhancers	NHDF-Ad	bronchial
19	chr2:54955400-54957000	Enhancers	Hela-S3	cervix
20	chr2:54955400-54957000	Enhancers	HSMMtube	muscle
21	chr2:54955600-54956600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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