Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:182912198..182914174-chr2:182926139..182928168,2	K562	blood:

Variant related genes	Relation type
ENSG00000150722	Chromatin interaction

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

rs_ID	r²[population]
rs1196155	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs1196157	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs1196160	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs1196167	0.89[CEU][hapmap];0.83[EUR][1000 genomes]
rs1196183	0.82[EUR][1000 genomes]
rs1196185	0.94[CEU][hapmap]
rs12617778	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12693291	0.90[CEU][hapmap]
rs12693292	0.88[CEU][hapmap]
rs13003589	0.90[CEU][hapmap]
rs1400009	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1400010	0.86[EUR][1000 genomes]
rs16822401	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16822412	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1913896	0.94[CEU][hapmap];0.82[EUR][1000 genomes]
rs2701664	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs2701665	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs3754930	0.92[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4666807	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6433953	0.94[CEU][hapmap]

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	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182903200-182928400	Weak transcription	Left Ventricle	heart
2	chr2:182907600-182915600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr2:182911800-182915600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr2:182912000-182913800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:182912000-182915400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr2:182912400-182913600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:182912800-182913800	Enhancers	Aorta	Aorta
8	chr2:182913200-182913800	Enhancers	HepG2	liver
9	chr2:182913200-182914200	Weak transcription	Osteobl	bone

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