Variant report

No.	Distal block	Cell Line	Cell type
1	chr5:52639118..52641979-chr5:52646001..52647528,2	MCF-7	breast:
2	chr5:52645723..52647612-chr5:52667338..52668850,2	K562	blood:
3	chr5:52646929..52648945-chr5:52664247..52665920,2	MCF-7	breast:

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	nsv949005	chr5:52188028-52808229	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv2752745	chr5:52422063-53343529	Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv830297	chr5:52492494-52707758	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv508356	chr5:52646168-52703120	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52642800-52656000	Weak transcription	Aorta	Aorta
2	chr5:52645600-52647400	Enhancers	HSMM	muscle
3	chr5:52645600-52647400	Enhancers	NHLF	lung
4	chr5:52645600-52647600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr5:52645800-52647400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr5:52645800-52647400	Enhancers	Muscle Satellite Cultured Cells	--
7	chr5:52645800-52647400	Enhancers	NHDF-Ad	bronchial
8	chr5:52646000-52647400	Enhancers	HMEC	breast
9	chr5:52646200-52647400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr5:52646400-52647400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:52646400-52647600	Enhancers	A549	lung
12	chr5:52646400-52649000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr5:52646400-52650400	Weak transcription	Osteobl	bone
14	chr5:52646400-52651200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr5:52646600-52647400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr5:52646600-52647400	Enhancers	Fetal Brain Male	brain
17	chr5:52647000-52647400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr5:52647200-52647400	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr5:52647200-52647400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr5:52647200-52647400	Enhancers	Lung	lung
21	chr5:52647200-52647400	Enhancers	HSMMtube	muscle

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