Variant report

No.	Distal block	Cell Line	Cell type
1	chr2:172064484..172066754-chr2:172100609..172102282,2	K562	blood:
2	chr2:172015533..172017177-chr2:172100533..172102344,2	K562	blood:
3	chr2:172015832..172019269-chr2:172098254..172102314,3	MCF-7	breast:
4	chr2:172098406..172101541-chr2:172106282..172109869,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198586	Chromatin interaction

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

rs_ID	r²[population]
rs10803857	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10930463	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11685357	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11690059	0.86[ASN][1000 genomes]
rs12611999	0.86[ASN][1000 genomes]
rs1319152	0.99[ASN][1000 genomes]
rs1477181	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1861770	0.95[ASN][1000 genomes]
rs2111461	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2111462	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2160701	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2193455	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4667681	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6433286	0.99[ASN][1000 genomes]
rs6754377	0.99[ASN][1000 genomes]
rs72625231	0.88[ASN][1000 genomes]
rs7583118	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7598187	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7609530	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs953505	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][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	esv3382346	chr2:172062677-172363892	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172096000-172104000	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr2:172098800-172101000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:172098800-172101600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr2:172100600-172101000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:172100600-172101000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr2:172100600-172102000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:172100600-172102000	Enhancers	K562	blood
8	chr2:172100800-172101200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:172100800-172101400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:172100800-172101400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
11	chr2:172100800-172101400	Enhancers	HSMMtube	muscle
12	chr2:172100800-172101600	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr2:172100800-172102000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:172100800-172102000	Enhancers	Muscle Satellite Cultured Cells	--
15	chr2:172100800-172102200	Enhancers	Placenta	Placenta
16	chr2:172100800-172102200	Enhancers	NHDF-Ad	bronchial
17	chr2:172100800-172102200	Enhancers	Osteobl	bone
18	chr2:172100800-172102800	Enhancers	Primary monocytes fromperipheralblood	blood

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