Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:57129335..57131464-chr5:57132447..57134423,2	K562	blood:
2	chr5:57129359..57132461-chr5:57754431..57756056,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145632	Chromatin interaction

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12519846	0.94[ASN][1000 genomes]
rs1816391	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1835873	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1835875	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1835876	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2053013	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2898030	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2898031	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2898032	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34152283	0.89[ASN][1000 genomes]
rs34711481	0.93[ASN][1000 genomes]
rs35483666	0.94[ASN][1000 genomes]
rs4700229	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4700230	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62360111	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6450440	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6892809	0.94[ASN][1000 genomes]
rs7701201	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][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	nsv525330	chr5:56931673-57320343	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv2756302	chr5:56978143-57180143	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv830310	chr5:56989346-57176006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2763454	chr5:57006531-57161140	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr5:57121400-57132800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr5:57127400-57137400	Enhancers	NHEK	skin
3	chr5:57128400-57130000	Enhancers	Hela-S3	cervix
4	chr5:57128400-57132200	Enhancers	HUVEC	blood vessel
5	chr5:57129000-57130600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr5:57129000-57131000	Weak transcription	NHLF	lung
7	chr5:57129200-57130600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr5:57129200-57130600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr5:57129200-57130600	Weak transcription	NH-A	brain
10	chr5:57129200-57131000	Weak transcription	Lung	lung
11	chr5:57129200-57131000	Weak transcription	Pancreas	Pancrea
12	chr5:57129200-57133800	Weak transcription	Placenta	Placenta
13	chr5:57129200-57136800	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr5:57129400-57130000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr5:57129600-57130600	Weak transcription	HSMM	muscle
16	chr5:57129600-57130800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr5:57129600-57130800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr5:57129600-57130800	Weak transcription	Osteobl	bone
19	chr5:57129800-57130200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr5:57129800-57130200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr5:57129800-57130200	Weak transcription	HMEC	breast

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