Variant report

No.	Distal block	Cell Line	Cell type
1	chr2:39772343..39775422-chr2:39777666..39780390,3	K562	blood:
2	chr2:39767599..39769475-chr2:39773569..39776768,3	MCF-7	breast:
3	chr2:39770224..39771806-chr2:39773514..39775201,2	K562	blood:
4	chr2:39661430..39663106-chr2:39773041..39775918,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10865155	0.83[AFR][1000 genomes]
rs1526026	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1547971	0.95[AFR][1000 genomes]
rs2056656	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4569458	1.00[AMR][1000 genomes]
rs7573067	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs987990	0.84[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833858	chr2:39684483-39856498	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr2:39761800-39777600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr2:39762200-39785000	Weak transcription	HSMMtube	muscle
3	chr2:39767800-39775000	Weak transcription	Aorta	Aorta
4	chr2:39769200-39777000	Weak transcription	Fetal Heart	heart
5	chr2:39769600-39776600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr2:39770400-39776800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:39770800-39789600	Weak transcription	Left Ventricle	heart
8	chr2:39772400-39775000	Enhancers	HepG2	liver
9	chr2:39773200-39778200	Enhancers	HMEC	breast
10	chr2:39773400-39775600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:39773400-39776000	Enhancers	NHEK	skin
12	chr2:39773600-39775000	Enhancers	NH-A	brain
13	chr2:39773600-39777200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:39774000-39775600	Enhancers	HUVEC	blood vessel
15	chr2:39774200-39775000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:39774200-39778000	Enhancers	Placenta	Placenta
17	chr2:39774400-39775000	Enhancers	Pancreas	Pancrea
18	chr2:39774400-39777200	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr2:39774400-39777600	Weak transcription	Hela-S3	cervix
20	chr2:39774600-39777600	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr2:39774800-39775400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung

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