Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:71598013..71600115-chr16:71607152..71610493,3	K562	blood:
2	chr16:71604094..71609680-chr16:71609822..71614465,7	MCF-7	breast:

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

rs_ID	r²[population]
rs11075896	0.88[LWK][hapmap]
rs13331092	0.88[LWK][hapmap]
rs13334255	0.84[YRI][hapmap]
rs13337162	1.00[AMR][1000 genomes]
rs13338643	0.85[AFR][1000 genomes]
rs13339247	1.00[ASW][hapmap];0.90[YRI][hapmap];0.87[AFR][1000 genomes]
rs13339574	1.00[AMR][1000 genomes]
rs28436203	0.88[LWK][hapmap]
rs28681277	1.00[AMR][1000 genomes]
rs28744680	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56209933	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57827931	1.00[AMR][1000 genomes]
rs61258964	1.00[AMR][1000 genomes]
rs7198645	0.88[LWK][hapmap]
rs73584836	0.85[AFR][1000 genomes]
rs8045394	0.88[LWK][hapmap]
rs8059131	0.82[LWK][hapmap]
rs9302626	0.89[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9302628	0.88[LWK][hapmap]
rs9921552	1.00[AMR][1000 genomes]
rs9924862	1.00[AMR][1000 genomes]
rs9925371	1.00[AMR][1000 genomes]
rs9926077	1.00[AMR][1000 genomes]
rs9928298	0.94[LWK][hapmap];0.90[YRI][hapmap]
rs9930271	0.88[LWK][hapmap]

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	esv3347477	chr16:71555148-71985177	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13338868	MARVELD3	cis	lymphoblastoid	seeQTL

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71602400-71615400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr16:71607400-71612200	Enhancers	HepG2	liver
3	chr16:71608200-71611000	Active TSS	Liver	Liver
4	chr16:71609000-71609400	Enhancers	Primary B cells from cord blood	blood

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