Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:189583743..189586666-chr2:189589000..189591672,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1084170	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1092261	0.92[EUR][1000 genomes]
rs12693504	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs13007902	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1354902	0.91[CEU][hapmap]
rs1395867	0.89[EUR][1000 genomes]
rs1395869	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs1507562	0.89[EUR][1000 genomes]
rs1605460	0.83[EUR][1000 genomes]
rs16830169	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs16830514	0.85[EUR][1000 genomes]
rs1916961	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2678360	0.92[EUR][1000 genomes]
rs2945414	0.92[EUR][1000 genomes]
rs6434291	0.83[EUR][1000 genomes]
rs6434292	0.83[EUR][1000 genomes]
rs698570	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7425417	0.83[CEU][hapmap]
rs7577912	0.83[EUR][1000 genomes]
rs781248	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs781253	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs781263	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs781264	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs781283	0.91[CEU][hapmap]
rs781284	0.91[CEU][hapmap]
rs781286	0.91[CEU][hapmap]
rs781288	0.91[CEU][hapmap]
rs781454	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003974	chr2:189331760-189827814	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1000932	chr2:189542210-189677277	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv536088	chr2:189542210-189677277	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv1842768	chr2:189555506-189635696	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv875606	chr2:189579045-189688463	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv875607	chr2:189579045-189711790	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189585200-189591200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:189586400-189591200	Weak transcription	NHDF-Ad	bronchial
3	chr2:189586400-189591400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:189588000-189592800	Weak transcription	Fetal Lung	lung
5	chr2:189590200-189591000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr2:189590200-189592800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:189590400-189593000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr2:189590600-189591600	Enhancers	HSMM	muscle
9	chr2:189590600-189592400	Enhancers	NH-A	brain
10	chr2:189590800-189591400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr2:189590800-189592200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:189590800-189592400	Enhancers	NHEK	skin

Quick Search: