Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:120116952..120120158-chr8:120220292..120221972,3	MCF-7	breast:
2	chr8:120119326..120121225-chr8:120220294..120222279,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000147676	Chromatin interaction

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs16891959	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16891980	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16891997	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16892010	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16892015	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16892025	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16892203	0.83[AMR][1000 genomes]
rs16892211	0.83[AMR][1000 genomes]
rs57794504	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57984835	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58657683	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58693451	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60384705	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61358846	0.83[AMR][1000 genomes]
rs61560423	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61594459	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6469808	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73327282	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73327295	0.87[ASN][1000 genomes]
rs73329303	0.82[ASN][1000 genomes]
rs73329306	0.82[ASN][1000 genomes]
rs73329312	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9693461	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2758169	chr8:119943309-120275750	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	esv2759639	chr8:119943309-120275750	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120115200-120121000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:120118800-120120800	Enhancers	Fetal Intestine Small	intestine
3	chr8:120119000-120121000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr8:120119800-120120600	Enhancers	Small Intestine	intestine
5	chr8:120120000-120120800	Enhancers	Liver	Liver

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