Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:212269284..212272087-chr2:212272450..212275433,2	MCF-7	breast:
2	chr2:212263390..212265128-chr2:212269573..212272489,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10932374	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs12467225	0.94[CHB][hapmap];0.95[JPT][hapmap]
rs12471583	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs1595064	0.82[JPT][hapmap]
rs1595066	0.95[CHB][hapmap];0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs16845990	0.81[JPT][hapmap]
rs16846013	0.94[CHB][hapmap];0.95[JPT][hapmap]
rs16846048	0.86[JPT][hapmap]
rs16846049	0.91[ASN][1000 genomes]
rs16846100	0.82[CEU][hapmap];0.84[CHB][hapmap];0.81[EUR][1000 genomes]
rs16846127	0.82[CEU][hapmap]
rs16846136	0.91[CEU][hapmap];0.80[EUR][1000 genomes]
rs3791687	0.86[ASN][1000 genomes]
rs3791691	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs3791696	0.94[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs3791697	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3791699	0.94[ASN][1000 genomes]
rs3791700	0.85[CHB][hapmap];0.83[JPT][hapmap];0.89[ASN][1000 genomes]
rs3791701	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3791708	0.82[CEU][hapmap]
rs3791709	0.83[CEU][hapmap]
rs4673613	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4673614	0.83[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs55901919	0.80[EUR][1000 genomes]
rs6749560	0.95[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs7591494	0.83[CEU][hapmap];0.81[EUR][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	nsv834523	chr2:212163236-212331393	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
2	nsv584314	chr2:212238982-212292521	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases
3	nsv460065	chr2:212244520-212276710	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases
4	nsv584315	chr2:212244520-212276710	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212258600-212272200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:212265200-212272800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr2:212266200-212272600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:212269200-212272600	Weak transcription	Aorta	Aorta
5	chr2:212269600-212272400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:212270000-212272400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:212270000-212272400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr2:212270600-212271600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:212270800-212272200	Weak transcription	NH-A	brain
10	chr2:212271000-212275000	Enhancers	Fetal Brain Male	brain

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