Variant report

No.	Distal block	Cell Line	Cell type
1	chr12:46765046..46767739-chr12:47326428..47329322,2	MCF-7	breast:
2	chr12:46764006..46767949-chr12:47324189..47328180,4	MCF-7	breast:
3	chr12:47069383..47070015-chr12:47327153..47328077,2	MCF-7	breast:
4	chr12:47068145..47070667-chr12:47326335..47329369,3	MCF-7	breast:
5	chr12:47071288..47071831-chr12:47327445..47328145,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134294	Chromatin interaction
ENSG00000258096	Chromatin interaction

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10785646	0.80[EUR][1000 genomes]
rs10881011	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10881013	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11183661	0.90[ASN][1000 genomes]
rs11183665	0.89[ASN][1000 genomes]
rs11183666	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11183671	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11183672	0.80[EUR][1000 genomes]
rs11609950	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12423364	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2465221	0.95[EUR][1000 genomes]
rs2465222	0.95[EUR][1000 genomes]
rs2465223	0.95[EUR][1000 genomes]
rs2465227	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2465228	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2465229	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2465230	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2465232	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2465597	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4405401	0.90[ASN][1000 genomes]
rs4586261	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6582686	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7137808	0.88[ASN][1000 genomes]
rs7138703	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7295618	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7966987	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7975211	0.88[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1845143	chr12:47051076-47431496	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47324200-47328000	Weak transcription	Liver	Liver
2	chr12:47327400-47327800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr12:47327400-47328200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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