Variant report

No.	Distal block	Cell Line	Cell type
1	chr6:54582003..54585202-chr6:54737626..54739872,3	MCF-7	breast:
2	chr6:54587916..54591176-chr6:54736715..54740306,4	MCF-7	breast:
3	chr6:54736804..54741584-chr6:54742863..54746409,5	MCF-7	breast:
4	chr6:54704497..54716767-chr6:54728797..54750947,71	MCF-7	breast:
5	chr6:54572095..54573836-chr6:54736894..54738679,2	MCF-7	breast:
6	chr6:54562484..54564963-chr6:54735331..54738094,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000224984	Chromatin interaction
ENSG00000168143	Chromatin interaction

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10456176	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10948866	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10948870	0.88[ASN][1000 genomes]
rs1155749	0.90[ASN][1000 genomes]
rs12208341	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12208348	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12211168	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1472679	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4715489	0.88[ASN][1000 genomes]
rs6910384	0.88[ASN][1000 genomes]
rs6918402	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6937970	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7752349	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7761336	0.90[ASN][1000 genomes]
rs7765721	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs924712	0.90[ASN][1000 genomes]
rs931766	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs931767	0.90[ASN][1000 genomes]
rs9396003	0.88[ASN][1000 genomes]
rs971526	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs973205	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[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	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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:54726600-54739600	Weak transcription	Small Intestine	intestine
2	chr6:54727200-54748800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:54727400-54740400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr6:54727400-54743800	Weak transcription	Pancreas	Pancrea
5	chr6:54730400-54743800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr6:54731600-54739400	Weak transcription	Duodenum Mucosa	Duodenum
7	chr6:54731800-54738800	Weak transcription	Fetal Intestine Large	intestine
8	chr6:54731800-54738800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr6:54732200-54739200	Weak transcription	Fetal Intestine Small	intestine
10	chr6:54734600-54741800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr6:54735000-54738200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr6:54736800-54741800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr6:54737200-54738000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr6:54737200-54742200	Enhancers	HMEC	breast
15	chr6:54737200-54746400	Enhancers	Hela-S3	cervix
16	chr6:54737600-54739000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr6:54737600-54739200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr6:54737600-54755800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr6:54737800-54740800	Enhancers	NHEK	skin

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