Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:59249051..59253229-chr1:59312821..59315698,5	K562	blood:
2	chr1:59245604..59247254-chr1:59311635..59313742,2	K562	blood:

Variant related genes	Relation type
ENSG00000234807	Chromatin interaction
ENSG00000177606	Chromatin interaction

rSNPs within LD-proxies of this variant (count:9)

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	nsv1005354	chr1:59283572-59535812	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1014087	chr1:59286306-59334393	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr1:59300600-59314800	Weak transcription	Aorta	Aorta
2	chr1:59306600-59314000	Weak transcription	Osteobl	bone
3	chr1:59306800-59313200	Weak transcription	NHEK	skin
4	chr1:59306800-59314000	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr1:59307400-59313200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:59308000-59313400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:59308200-59314200	Weak transcription	Small Intestine	intestine
8	chr1:59309800-59314200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:59310400-59313000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:59310400-59313000	Weak transcription	HMEC	breast
11	chr1:59310400-59314200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:59310600-59313400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:59311200-59314000	Weak transcription	Spleen	Spleen
14	chr1:59311800-59314400	Weak transcription	Gastric	stomach
15	chr1:59312000-59314200	Weak transcription	Lung	lung
16	chr1:59312000-59320600	Weak transcription	Pancreas	Pancrea
17	chr1:59312800-59314200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:59312800-59314200	Enhancers	A549	lung
19	chr1:59312800-59314800	Enhancers	NHDF-Ad	bronchial
20	chr1:59312800-59317400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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