Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:187717891..187719755-chr2:187726446..187727962,2	K562	blood:
2	chr2:187712137..187715365-chr2:187718423..187721472,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163012	Chromatin interaction

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

rs_ID	r²[population]
rs10166117	0.92[EUR][1000 genomes]
rs11885224	0.92[EUR][1000 genomes]
rs13407429	0.82[EUR][1000 genomes]
rs13428262	0.90[EUR][1000 genomes]
rs13431108	0.89[EUR][1000 genomes]
rs13431163	0.92[EUR][1000 genomes]
rs13432873	0.82[EUR][1000 genomes]
rs1451556	0.92[EUR][1000 genomes]
rs16828310	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17751491	0.93[EUR][1000 genomes]
rs2084753	0.82[EUR][1000 genomes]
rs2084754	0.82[EUR][1000 genomes]
rs41404244	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs59048647	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61626504	0.82[EUR][1000 genomes]
rs62171921	0.93[EUR][1000 genomes]
rs6725956	0.92[EUR][1000 genomes]
rs6726153	0.92[EUR][1000 genomes]
rs6738033	0.93[EUR][1000 genomes]
rs67477382	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][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	nsv428069	chr2:187575692-187766209	ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv949700	chr2:187713412-188361211	Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187718200-187719600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr2:187718200-187719600	Enhancers	HUVEC	blood vessel
3	chr2:187718400-187719400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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