Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:171637822..171639783-chr2:171650813..171652937,2	K562	blood:

Variant related genes	Relation type
ENSG00000222509	Chromatin interaction

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs16823157	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17694726	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17700577	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17700773	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17751683	0.96[AMR][1000 genomes]
rs1894918	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2160414	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs41393845	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs45465192	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs45473292	0.96[AMR][1000 genomes]
rs45486908	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4667653	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4667654	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4667655	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4667659	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4667660	0.83[AMR][1000 genomes]
rs4668307	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4668310	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4668311	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4668319	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4668322	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56852746	0.86[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	esv1806894	chr2:171651783-171679041	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr2:171629600-171658800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr2:171642400-171669000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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