Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:54985673..54988150-chr2:54994047..54996597,3	K562	blood:
2	chr2:54994263..54996160-chr2:55006143..55008634,2	K562	blood:

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	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
4	esv1844855	chr2:54987215-55012202	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54992200-54998600	Weak transcription	Fetal Brain Female	brain
2	chr2:54993400-54995600	Enhancers	NHEK	skin
3	chr2:54993600-54996600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr2:54994200-54995600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr2:54994200-54995600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:54994200-54995600	Enhancers	Hela-S3	cervix
7	chr2:54994400-54995800	Enhancers	HUVEC	blood vessel
8	chr2:54994600-54995600	Enhancers	HMEC	breast
9	chr2:54994600-54996200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:54994800-54995800	Enhancers	Primary B cells from peripheral blood	blood
11	chr2:54994800-54995800	Enhancers	Muscle Satellite Cultured Cells	--
12	chr2:54994800-54996400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr2:54995000-54995600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:54995000-54995600	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr2:54995000-54995600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:54995000-54995600	Enhancers	HSMMtube	muscle
17	chr2:54995000-54995600	Enhancers	NH-A	brain
18	chr2:54995000-54995600	Enhancers	NHDF-Ad	bronchial
19	chr2:54995200-54997800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:54995400-54995600	Enhancers	Primary B cells from cord blood	blood
21	chr2:54995400-54995600	Enhancers	HSMM	muscle

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