Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:145405009..145407023-chr6:145407412..145410663,3	MCF-7	breast:

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

rs_ID	r²[population]
rs1007379	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11155401	0.86[AFR][1000 genomes]
rs2761089	0.83[AMR][1000 genomes]
rs2788720	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs480110	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs524563	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs526564	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs529733	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs539661	0.81[AMR][1000 genomes]
rs559299	0.81[AMR][1000 genomes]
rs561083	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs565687	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs572490	0.81[AMR][1000 genomes]
rs584911	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs605757	0.83[AMR][1000 genomes]
rs621529	0.83[AMR][1000 genomes]
rs623736	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs625717	0.95[ASN][1000 genomes]
rs627131	0.95[ASN][1000 genomes]
rs630099	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs635627	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs637348	0.83[AMR][1000 genomes]
rs647744	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs649933	0.81[AMR][1000 genomes]
rs650555	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs669890	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs680108	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6939640	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016747	chr6:144917411-145599874	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1022965	chr6:145374851-145635385	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1015500	chr6:145388558-145421503	Flanking Active TSS Enhancers Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv830834	chr6:145392073-145556294	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv981308	chr6:145406668-145420270	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs666199	PLAGL1	cis	cerebellum	SCAN
rs666199	EPM2A	cis	parietal	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:145407200-145408000	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr6:145407400-145408600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr6:145407600-145408200	Enhancers	HSMMtube	muscle
4	chr6:145407800-145408000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr6:145407800-145408600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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