Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:12859448..12861530-chr6:12863983..12865942,2	K562	blood:
2	chr6:12860458..12863144-chr6:12869628..12871979,2	MCF-7	breast:

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

rs_ID	r²[population]
rs13191496	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13194950	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13198167	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13205779	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16873462	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34348949	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35227817	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35395772	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35621699	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35954478	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36043593	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55637633	1.00[EUR][1000 genomes]
rs55803153	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62389889	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62389892	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62389893	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62389894	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62389900	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6900427	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6914233	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6914467	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6924353	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6927781	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3521000	chr6:12561306-13128519	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Active 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	7 gene(s)	inside rSNPs	diseases
2	esv3521001	chr6:12561306-13128519	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv830587	chr6:12769661-12939875	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv830588	chr6:12793530-12972493	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1027534	chr6:12858048-12877597	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:12849800-12867000	Weak transcription	Brain Anterior Caudate	brain
2	chr6:12852000-12866000	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr6:12853400-12870000	Weak transcription	Brain Germinal Matrix	brain

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