Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:84857639..84859473-chr1:84863032..84864817,2	K562	blood:

Variant related genes	Relation type
ENSG00000137976	Chromatin interaction
ENSG00000240520	Chromatin interaction

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

rs_ID	r²[population]
rs10082140	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10082196	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10874447	1.00[EUR][1000 genomes]
rs11164008	1.00[EUR][1000 genomes]
rs11808831	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12063628	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12063669	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1515142	1.00[EUR][1000 genomes]
rs1533373	1.00[EUR][1000 genomes]
rs17131643	1.00[EUR][1000 genomes]
rs172736	1.00[EUR][1000 genomes]
rs312398	1.00[EUR][1000 genomes]
rs6671641	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72943947	1.00[EUR][1000 genomes]
rs7413066	1.00[EUR][1000 genomes]
rs7529017	1.00[EUR][1000 genomes]
rs7533636	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7546355	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs784834	1.00[EUR][1000 genomes]
rs9804106	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830437	chr1:84837524-85001269	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer 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

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84853600-84858800	Weak transcription	HUVEC	blood vessel
2	chr1:84858000-84863200	Weak transcription	Cortex derived primary cultured neurospheres	brain

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