Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:64015319..64017822-chr2:64021923..64023829,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs12473342	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs1255	1.00[CHB][hapmap]
rs13032357	0.82[CEU][hapmap]
rs17028100	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs171901	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs17619598	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs17619855	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs196124	1.00[CHB][hapmap]
rs2604613	1.00[CHB][hapmap]
rs262470	1.00[CHB][hapmap]
rs262472	1.00[CHB][hapmap]
rs262473	1.00[CHB][hapmap]
rs262477	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs262478	1.00[CHB][hapmap]
rs262479	1.00[CHB][hapmap]
rs262490	1.00[CHB][hapmap]
rs262491	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs262527	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs262536	1.00[CHB][hapmap]
rs262537	1.00[CHB][hapmap]
rs6730863	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs7606045	1.00[CHB][hapmap]
rs9309355	1.00[CHB][hapmap]
rs964880	1.00[CHB][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	nsv834242	chr2:63891249-64045617	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1013375	chr2:63969820-64231550	ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11694709	BCL11A	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63976400-64028600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:64017000-64023400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:64017800-64023800	Weak transcription	Psoas Muscle	Psoas
4	chr2:64018600-64025600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:64019000-64023600	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr2:64019000-64029000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:64019800-64023800	Weak transcription	Liver	Liver
8	chr2:64020000-64023600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:64020400-64023400	Weak transcription	Osteobl	bone
10	chr2:64020400-64032000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:64020600-64023600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:64020800-64023400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr2:64020800-64025200	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr2:64022800-64024600	Strong transcription	Adipose Nuclei	Adipose

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