Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:51452163..51454609-chr13:51458977..51461439,2	MCF-7	breast:
2	chr13:51451886..51453758-chr13:51483601..51485898,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136104	Chromatin interaction
ENSG00000233672	Chromatin interaction

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1041017	1.00[CEU][hapmap];0.90[GIH][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11616586	0.97[EUR][1000 genomes]
rs11617765	0.97[EUR][1000 genomes]
rs11843914	0.84[EUR][1000 genomes]
rs7318931	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs7323313	0.95[EUR][1000 genomes]
rs7324091	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7335786	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs74080784	0.87[EUR][1000 genomes]
rs7491820	0.95[EUR][1000 genomes]
rs7992624	0.97[EUR][1000 genomes]
rs7993060	0.97[EUR][1000 genomes]
rs8000150	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8001874	0.95[EUR][1000 genomes]
rs8002319	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9526698	0.97[EUR][1000 genomes]
rs9526703	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9526706	1.00[CEU][hapmap];0.90[GIH][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9526709	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs9526712	0.84[EUR][1000 genomes]
rs9535517	0.90[CEU][hapmap];0.88[EUR][1000 genomes]
rs9535519	0.97[EUR][1000 genomes]
rs9535522	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9535537	0.84[EUR][1000 genomes]
rs9591371	0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
2	nsv900077	chr13:51446114-51514831	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17074964	SETDB2	cis	parietal	SCAN
rs17074964	RNASEH2B	cis	cerebellum	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51452400-51454600	Weak transcription	Fetal Thymus	thymus
2	chr13:51453000-51454800	Weak transcription	Thymus	Thymus

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