Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:185285184..185286832-chr1:185521305..185523593,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000116679	Chromatin interaction

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs168004	0.82[EUR][1000 genomes]
rs186732	0.82[EUR][1000 genomes]
rs193088	0.81[EUR][1000 genomes]
rs2756198	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2756209	0.82[EUR][1000 genomes]
rs2821436	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2842591	0.83[EUR][1000 genomes]
rs333704	0.83[EUR][1000 genomes]
rs333705	0.83[EUR][1000 genomes]
rs333708	0.81[EUR][1000 genomes]
rs333711	0.83[EUR][1000 genomes]
rs333712	0.82[EUR][1000 genomes]
rs333713	0.82[EUR][1000 genomes]
rs333718	0.83[EUR][1000 genomes]
rs333724	0.81[EUR][1000 genomes]
rs333726	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs333728	0.81[EUR][1000 genomes]
rs492436	0.83[EUR][1000 genomes]
rs495416	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs506429	0.81[EUR][1000 genomes]
rs507076	0.81[EUR][1000 genomes]
rs516040	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs518472	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs521481	0.84[EUR][1000 genomes]
rs531472	0.82[EUR][1000 genomes]
rs534817	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs553452	0.84[EUR][1000 genomes]
rs567021	0.82[EUR][1000 genomes]
rs567846	0.81[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	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv947556	chr1:185515946-185523530	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185520800-185528800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:185521000-185533800	Weak transcription	Placenta	Placenta

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