Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:173506570..173508456-chr2:173543074..173545589,2	MCF-7	breast:
2	chr2:173499964..173502739-chr2:173506139..173507845,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228016	Chromatin interaction

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs16860768	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16860769	1.00[EUR][1000 genomes]
rs2198799	0.82[AFR][1000 genomes]
rs55774730	0.92[EUR][1000 genomes]
rs55967205	1.00[EUR][1000 genomes]
rs57566649	0.89[AFR][1000 genomes]
rs58329616	1.00[EUR][1000 genomes]
rs58576752	1.00[EUR][1000 genomes]
rs59074037	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs59434263	0.92[EUR][1000 genomes]
rs60071760	0.92[EUR][1000 genomes]
rs60845738	0.92[EUR][1000 genomes]
rs6736977	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73040802	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73042910	0.92[EUR][1000 genomes]
rs73042913	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73042916	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73977612	0.92[EUR][1000 genomes]
rs73977622	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73977647	1.00[EUR][1000 genomes]

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	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	esv2760591	chr2:173396905-173719520	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv583665	chr2:173460640-173643087	Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv2762962	chr2:173493078-173527311	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 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	chr2:173494600-173510200	Weak transcription	Primary T cells from cord blood	blood
2	chr2:173499800-173513000	Weak transcription	Pancreas	Pancrea
3	chr2:173504800-173507800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:173505000-173512000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:173505200-173507800	Weak transcription	Osteobl	bone
6	chr2:173505200-173509000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr2:173505200-173511200	Weak transcription	NHDF-Ad	bronchial
8	chr2:173505400-173507800	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr2:173505400-173507800	Weak transcription	NHEK	skin
10	chr2:173505400-173512000	Weak transcription	HSMM	muscle
11	chr2:173505600-173507800	Weak transcription	Fetal Stomach	stomach
12	chr2:173505600-173507800	Weak transcription	NH-A	brain
13	chr2:173506600-173509600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr2:173507000-173507800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr2:173507000-173508600	Enhancers	NHLF	lung
16	chr2:173507000-173510800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:173507200-173508000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr2:173507200-173509000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr2:173507400-173507600	Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr2:173507400-173508600	Enhancers	HMEC	breast

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