Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:30608258..30610479-chr12:30611137..30614676,3	MCF-7	breast:

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

rs_ID	r²[population]
rs10506068	0.86[ASN][1000 genomes]
rs10734788	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10734789	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10743718	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10743721	0.87[ASN][1000 genomes]
rs10771721	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10771722	0.81[AMR][1000 genomes]
rs12582764	0.98[ASN][1000 genomes]
rs1506371	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1506372	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1506384	0.83[AMR][1000 genomes]
rs1506385	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1506392	0.84[ASN][1000 genomes]
rs16906414	0.86[ASN][1000 genomes]
rs16906436	0.86[ASN][1000 genomes]
rs1876183	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2133690	0.88[ASN][1000 genomes]
rs2221167	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4930927	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4931338	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4931340	0.86[ASN][1000 genomes]
rs4931341	0.85[ASN][1000 genomes]
rs60625006	0.84[ASN][1000 genomes]
rs7960523	0.86[ASN][1000 genomes]
rs7961829	0.86[ASN][1000 genomes]
rs9971884	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3343291	chr12:30455597-30992837	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1045252	chr12:30583170-30621743	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1050233	chr12:30590071-30670919	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30610800-30613600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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