Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:15725007..15727450-chr21:15727478..15730890,3	K562	blood:
2	chr21:15721000..15722814-chr21:15730165..15732273,2	K562	blood:

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs12329678	1.00[EUR][1000 genomes]
rs12329818	1.00[EUR][1000 genomes]
rs1475892	1.00[EUR][1000 genomes]
rs17001477	1.00[EUR][1000 genomes]
rs28470776	1.00[AMR][1000 genomes]
rs58041958	1.00[EUR][1000 genomes]
rs59704604	1.00[EUR][1000 genomes]
rs6516815	1.00[EUR][1000 genomes]
rs7275979	1.00[EUR][1000 genomes]
rs7279926	1.00[EUR][1000 genomes]
rs7282081	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8130177	1.00[EUR][1000 genomes]
rs8130525	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8132024	1.00[EUR][1000 genomes]
rs9305297	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9305311	1.00[EUR][1000 genomes]
rs9974277	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9975031	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9976092	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9976969	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9977174	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9978061	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9978892	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9980948	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9981182	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9981787	1.00[EUR][1000 genomes]
rs9982477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9982509	1.00[EUR][1000 genomes]
rs9982684	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9982971	1.00[EUR][1000 genomes]
rs9983264	1.00[AMR][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	nsv1064554	chr21:15676222-15809321	Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1061686	chr21:15724570-15765777	Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15729600-15731000	Weak transcription	HMEC	breast
2	chr21:15729600-15731000	Weak transcription	NHEK	skin
3	chr21:15729600-15733600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr21:15730400-15731600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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