Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:28406445..28408686-chr21:28409581..28411940,2	K562	blood:
2	chr21:28168344..28170400-chr21:28409264..28410987,2	K562	blood:

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs233581	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs233582	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs233607	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs233611	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs233612	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs233613	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs233617	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs233618	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs233619	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs233620	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2830646	0.96[AFR][1000 genomes]
rs2849664	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs413156	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs427577	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs447687	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs545278	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs572317	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs636516	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs652277	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9978689	0.96[AFR][1000 genomes];1.00[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	nsv1067475	chr21:28238746-29046707	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	esv2758532	chr21:28380230-28540443	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
3	esv2758817	chr21:28380230-28540443	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
4	nsv587341	chr21:28391743-28419053	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
5	esv3347478	chr21:28409731-28412229	Weak transcription Enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28351800-28416600	Weak transcription	Ovary	ovary
2	chr21:28409400-28410000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr21:28409400-28412400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr21:28409400-28415800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr21:28409600-28411800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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