Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:112363786..112368966-chr3:112369502..112375118,11	MCF-7	breast:
2	chr3:112362097..112368318-chr3:112369170..112375638,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000091986	Chromatin interaction

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12054416	0.85[CHB][hapmap];0.83[GIH][hapmap];0.85[JPT][hapmap]
rs1249910	0.91[CEU][hapmap];0.87[GIH][hapmap];0.80[EUR][1000 genomes]
rs13068244	0.84[EUR][1000 genomes]
rs13092258	0.85[EUR][1000 genomes]
rs2399449	0.87[EUR][1000 genomes]
rs28374264	0.91[EUR][1000 genomes]
rs4145150	0.88[EUR][1000 genomes]
rs4145151	0.88[EUR][1000 genomes]
rs55894063	0.88[EUR][1000 genomes]
rs56302621	0.91[EUR][1000 genomes]
rs6438087	0.85[CHD][hapmap]
rs6768072	0.80[CEU][hapmap]
rs6772102	0.88[EUR][1000 genomes]
rs6793555	0.88[EUR][1000 genomes]
rs7630314	0.90[EUR][1000 genomes]
rs9815819	0.85[CHD][hapmap]
rs9818848	0.82[CEU][hapmap];0.86[EUR][1000 genomes]
rs9821161	1.00[ASN][1000 genomes]
rs9821338	0.89[CHD][hapmap]
rs9833456	0.87[EUR][1000 genomes]
rs9845240	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs9864580	0.84[EUR][1000 genomes]
rs9876497	0.81[CEU][hapmap];0.87[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	esv3329419	chr3:112236688-112620544	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9821100	BOC	cis	cerebellum	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112368200-112375200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr3:112371400-112375200	Enhancers	HMEC	breast
3	chr3:112372400-112380600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr3:112373200-112375200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr3:112373200-112375200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr3:112373400-112375400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr3:112373400-112376800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr3:112373800-112376400	Enhancers	NHDF-Ad	bronchial
9	chr3:112374000-112375200	Enhancers	Muscle Satellite Cultured Cells	--
10	chr3:112374000-112375200	Enhancers	NH-A	brain
11	chr3:112374000-112375200	Enhancers	Osteobl	bone
12	chr3:112375000-112375200	Enhancers	A549	lung
13	chr3:112375000-112377400	Weak transcription	NHLF	lung
14	chr3:112375000-112389000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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