Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:40571034..40573630-chr5:40833870..40835374,2	K562	blood:

Variant related genes	Relation type
ENSG00000145592	Chromatin interaction

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv880993	chr5:40521648-40682550	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	38 gene(s)	inside rSNPs	diseases
2	nsv4807	chr5:40570800-40615779	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:40568600-40572200	Enhancers	Primary B cells from peripheral blood	blood
2	chr5:40568600-40574400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr5:40569000-40574200	Enhancers	NHDF-Ad	bronchial
4	chr5:40569200-40571600	Enhancers	Primary B cells from cord blood	blood
5	chr5:40569200-40572400	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr5:40569200-40576200	Enhancers	Fetal Lung	lung
7	chr5:40569600-40571600	Enhancers	HSMM	muscle
8	chr5:40569800-40571800	Enhancers	Fetal Kidney	kidney
9	chr5:40569800-40572600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr5:40569800-40573600	Enhancers	Osteobl	bone
11	chr5:40570000-40572400	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr5:40570200-40571600	Enhancers	HSMMtube	muscle
13	chr5:40570800-40571800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr5:40570800-40572600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr5:40570800-40572800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr5:40571000-40572000	Weak transcription	Fetal Stomach	stomach
17	chr5:40571000-40574400	Enhancers	Muscle Satellite Cultured Cells	--
18	chr5:40571000-40578400	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr5:40571200-40572200	Weak transcription	Fetal Muscle Leg	muscle
20	chr5:40571400-40572400	Weak transcription	NHLF	lung

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