Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:28886881..28888518-chr22:28890275..28892164,2	K562	blood:

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs12157518	0.95[ASN][1000 genomes]
rs12159502	0.88[EUR][1000 genomes]
rs16986290	0.90[ASN][1000 genomes]
rs16986377	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986462	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986548	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35731009	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58427200	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5997355	0.86[ASN][1000 genomes]
rs5997363	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5997365	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5997367	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5997369	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5997372	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6005751	0.95[ASN][1000 genomes]
rs6005757	0.86[ASN][1000 genomes]
rs6005758	0.95[ASN][1000 genomes]
rs6005765	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6005779	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6005780	0.97[EUR][1000 genomes]
rs6005783	0.97[EUR][1000 genomes]
rs6005789	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6005793	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6005829	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6005833	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6005834	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73428082	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73428096	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067544	chr22:28755418-29055246	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
2	nsv544674	chr22:28755418-29055246	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
3	nsv588880	chr22:28807277-29001789	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
4	nsv916473	chr22:28837041-29215603	Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 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	chr22:28881000-28893400	Weak transcription	NHDF-Ad	bronchial
2	chr22:28888400-28891200	Enhancers	Dnd41	blood
3	chr22:28890400-28890600	Enhancers	Left Ventricle	heart
4	chr22:28890400-28890600	Enhancers	A549	lung

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