Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:209259731..209260614-chr2:210825458..210825962,2	K562	blood:

Variant related genes	Relation type
ENSG00000144406	Chromatin interaction

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10180707	0.89[ASN][1000 genomes]
rs10206991	0.93[EUR][1000 genomes]
rs10497899	0.89[ASN][1000 genomes]
rs1057390	0.90[ASN][1000 genomes]
rs11897777	0.91[EUR][1000 genomes]
rs11897897	0.90[ASN][1000 genomes]
rs12617780	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12694111	0.89[ASN][1000 genomes]
rs13397965	0.91[EUR][1000 genomes]
rs1370375	0.89[ASN][1000 genomes]
rs16841242	0.86[ASN][1000 genomes]
rs1898437	0.98[AMR][1000 genomes]
rs2304545	0.84[AMR][1000 genomes]
rs4558530	0.89[ASN][1000 genomes]
rs4675761	0.87[AMR][1000 genomes]
rs60916150	0.89[ASN][1000 genomes]
rs61195726	0.89[ASN][1000 genomes]
rs6725548	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7583022	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs920218	0.89[ASN][1000 genomes]
rs962595	0.89[ASN][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	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv584297	chr2:209020181-209316760	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209259400-209260600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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