Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:74251721..74254234-chr5:74259787..74261989,3	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10045282	0.83[ASN][1000 genomes]
rs10066902	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10078075	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10805892	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10942726	0.85[ASN][1000 genomes]
rs11748722	0.82[ASN][1000 genomes]
rs12515649	0.82[ASN][1000 genomes]
rs3934476	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4235682	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4368710	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4382144	0.82[ASN][1000 genomes]
rs4392602	0.90[ASN][1000 genomes]
rs4703642	0.91[ASN][1000 genomes]
rs6453099	0.91[ASN][1000 genomes]
rs6453100	0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6453102	0.89[EUR][1000 genomes]
rs6863602	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6867482	0.80[ASN][1000 genomes]
rs6883719	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6898812	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7736223	0.91[ASN][1000 genomes]
rs9293637	0.91[ASN][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	nsv830352	chr5:74189495-74337944	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1018865	chr5:74246293-74494552	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr5:74244200-74253400	Weak transcription	Aorta	Aorta
2	chr5:74245400-74256000	Enhancers	Fetal Intestine Large	intestine
3	chr5:74245800-74255800	Enhancers	Stomach Mucosa	stomach
4	chr5:74246200-74259200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr5:74246600-74255000	Enhancers	HepG2	liver
6	chr5:74246600-74256600	Enhancers	Fetal Intestine Small	intestine
7	chr5:74247000-74253000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr5:74247800-74253400	Enhancers	NHEK	skin
9	chr5:74248000-74253000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr5:74248400-74253600	Enhancers	Placenta	Placenta
11	chr5:74249200-74253400	Enhancers	HMEC	breast
12	chr5:74249400-74253600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr5:74249600-74254400	Enhancers	Duodenum Mucosa	Duodenum
14	chr5:74250000-74254000	Weak transcription	Small Intestine	intestine
15	chr5:74250800-74252800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr5:74250800-74253200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr5:74252000-74253000	Enhancers	Placenta Amnion	Placenta Amnion
18	chr5:74252200-74253200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr5:74252400-74253000	Weak transcription	Pancreas	Pancrea
20	chr5:74252400-74254600	Weak transcription	Gastric	stomach
21	chr5:74252600-74253200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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