Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:54704497..54716767-chr6:54728797..54750947,71	MCF-7	breast:
2	chr6:54721521..54725055-chr6:54731692..54735464,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168143	Chromatin interaction
ENSG00000224984	Chromatin interaction

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs3105260	1.00[EUR][1000 genomes]
rs58658626	1.00[EUR][1000 genomes]
rs59536488	1.00[EUR][1000 genomes]
rs6923998	1.00[EUR][1000 genomes]
rs73434487	1.00[EUR][1000 genomes]
rs7356813	1.00[EUR][1000 genomes]
rs7740224	1.00[EUR][1000 genomes]
rs9475055	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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	nsv885900	chr6:54517968-54852462	Active TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv2763553	chr6:54687979-54820487	Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 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	chr6:54725600-54737400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr6:54725600-54737600	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr6:54726600-54739600	Weak transcription	Small Intestine	intestine
4	chr6:54727200-54748800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:54727400-54740400	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr6:54727400-54743800	Weak transcription	Pancreas	Pancrea
7	chr6:54730400-54733600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr6:54730400-54735800	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr6:54730400-54743800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr6:54731600-54737200	Weak transcription	Hela-S3	cervix
11	chr6:54731600-54739400	Weak transcription	Duodenum Mucosa	Duodenum
12	chr6:54731800-54738800	Weak transcription	Fetal Intestine Large	intestine
13	chr6:54731800-54738800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr6:54732200-54739200	Weak transcription	Fetal Intestine Small	intestine
15	chr6:54732600-54734600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr6:54732800-54734200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr6:54733400-54733600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr6:54733400-54734200	Genic enhancers	NHEK	skin
19	chr6:54733400-54734400	Genic enhancers	HMEC	breast
20	chr6:54733400-54734600	Enhancers	Placenta Amnion	Placenta Amnion

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