Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:178860190..178862819-chr2:178863272..178865275,2	K562	blood:

Variant related genes	Relation type
ENSG00000213962	Chromatin interaction

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1020011	1.00[EUR][1000 genomes]
rs11686720	1.00[EUR][1000 genomes]
rs12613904	1.00[EUR][1000 genomes]
rs1358300	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1369518	1.00[EUR][1000 genomes]
rs1527288	1.00[EUR][1000 genomes]
rs2117739	1.00[EUR][1000 genomes]
rs2164330	1.00[EUR][1000 genomes]
rs2366352	1.00[EUR][1000 genomes]
rs2886653	1.00[EUR][1000 genomes]
rs334049	1.00[EUR][1000 genomes]
rs334106	1.00[EUR][1000 genomes]
rs379552	1.00[EUR][1000 genomes]
rs6433707	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6433711	1.00[EUR][1000 genomes]
rs6729893	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6741013	1.00[EUR][1000 genomes]
rs6761951	1.00[EUR][1000 genomes]
rs73038286	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73038287	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73038297	1.00[AMR][1000 genomes]
rs9288012	1.00[EUR][1000 genomes]
rs9288013	1.00[EUR][1000 genomes]
rs934567	1.00[EUR][1000 genomes]
rs959775	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533377	chr2:178718801-178963463	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1007579	chr2:178729330-178890946	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv875451	chr2:178748294-178953409	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv998304	chr2:178756380-178924378	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv536056	chr2:178756380-178924378	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv961915	chr2:178860061-178863452	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178854800-178862400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr2:178860600-178863600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:178861200-178864800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr2:178861400-178863800	Enhancers	Muscle Satellite Cultured Cells	--
5	chr2:178861600-178862400	Weak transcription	A549	lung
6	chr2:178861600-178862600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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