Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:234990278..234993062-chr2:234998550..235000154,2	MCF-7	breast:

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

rs_ID	r²[population]
rs11562947	0.94[ASN][1000 genomes]
rs11563197	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11884288	0.94[ASN][1000 genomes]
rs11885740	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs13401466	0.81[EUR][1000 genomes]
rs1507517	0.94[ASN][1000 genomes]
rs1507518	0.94[ASN][1000 genomes]
rs1507519	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17864799	0.94[ASN][1000 genomes]
rs17864800	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17864801	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17865702	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17865707	0.94[ASN][1000 genomes]
rs17865708	0.94[ASN][1000 genomes]
rs17866610	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17869095	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17869099	0.94[ASN][1000 genomes]
rs28903699	0.94[ASN][1000 genomes]
rs28903985	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[JPT][hapmap];0.94[ASN][1000 genomes]
rs28904000	0.94[ASN][1000 genomes]
rs28904005	0.98[ASN][1000 genomes]
rs34179683	0.86[ASN][1000 genomes]
rs35211354	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013712	chr2:234558457-235495825	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv532476	chr2:234595695-235134381	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv834571	chr2:234929288-235110332	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv998149	chr2:234978261-235086951	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234987000-234991800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr2:234990400-234991600	Enhancers	Stomach Mucosa	stomach
3	chr2:234990400-234991600	Enhancers	HMEC	breast
4	chr2:234990400-234992200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr2:234990400-234993000	Enhancers	Pancreas	Pancrea
6	chr2:234990600-234991000	Flanking Active TSS	Liver	Liver
7	chr2:234990600-234991000	Enhancers	Esophagus	oesophagus
8	chr2:234990600-234991000	Enhancers	NHEK	skin
9	chr2:234990600-234991400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:234990600-234991400	Enhancers	Fetal Lung	lung
11	chr2:234990600-234991400	Flanking Active TSS	A549	lung
12	chr2:234990600-234991600	Enhancers	Rectal Mucosa Donor 29	rectum
13	chr2:234990600-234991800	Enhancers	HepG2	liver
14	chr2:234990600-234992400	Enhancers	Fetal Kidney	kidney
15	chr2:234990600-234992600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:234990800-234991000	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr2:234990800-234991200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:234990800-234991200	Active TSS	Duodenum Mucosa	Duodenum
19	chr2:234990800-234991800	Weak transcription	Gastric	stomach

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