Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:4436749..4438740-chr6:4557869..4560584,2	MCF-7	breast:
2	chr6:4552526..4554693-chr6:4558953..4561046,2	K562	blood:

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

rs_ID	r²[population]
rs11754975	0.89[EUR][1000 genomes]
rs119194	0.89[EUR][1000 genomes]
rs13195583	0.89[EUR][1000 genomes]
rs1923318	0.89[EUR][1000 genomes]
rs366253	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs368513	0.91[EUR][1000 genomes]
rs379512	0.91[EUR][1000 genomes]
rs393589	0.91[EUR][1000 genomes]
rs415223	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs417353	0.91[EUR][1000 genomes]
rs425229	0.91[EUR][1000 genomes]
rs434509	0.93[EUR][1000 genomes]
rs435655	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs437035	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs437061	0.91[EUR][1000 genomes]
rs438085	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs440354	0.93[EUR][1000 genomes]
rs441034	0.91[EUR][1000 genomes]
rs441797	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs451278	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4960003	0.89[EUR][1000 genomes]
rs651051	0.93[EUR][1000 genomes]
rs84995	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs84997	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9504148	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9504155	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	esv3421990	chr6:4446933-4659639	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv830576	chr6:4447554-4610604	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv3366530	chr6:4471528-4865322	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv883415	chr6:4546491-4629654	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs429527	LOC442155	cis	temporal cortex	BrainEAC

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4560000-4572400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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