Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr16:71463500-71463650	GM12864	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:71462457..71465437-chr16:71470394..71473356,2	MCF-7	breast:
2	chr16:71462837..71465666-chr16:71468747..71470371,2	K562	blood:
3	chr16:71463484..71466764-chr16:71493078..71496827,4	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10468265	0.90[CEU][hapmap]
rs12149254	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12325234	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12444714	1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];0.87[TSI][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12448992	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12919092	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs12922597	0.84[EUR][1000 genomes]
rs12922830	0.83[EUR][1000 genomes]
rs16972808	0.83[ASW][hapmap];0.90[CEU][hapmap];1.00[TSI][hapmap];0.81[EUR][1000 genomes]
rs16973112	0.90[CEU][hapmap];1.00[TSI][hapmap]
rs16973190	0.90[CEU][hapmap];0.94[TSI][hapmap]
rs2033251	0.92[ASW][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap]
rs2052873	0.90[CEU][hapmap];1.00[TSI][hapmap]
rs34400718	0.89[EUR][1000 genomes]
rs3886947	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs56222754	0.81[EUR][1000 genomes]
rs6499520	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs66778248	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72791971	0.81[EUR][1000 genomes]
rs72791974	0.81[EUR][1000 genomes]
rs72795864	0.81[EUR][1000 genomes]
rs72795869	0.81[EUR][1000 genomes]
rs8051439	0.89[CEU][hapmap]
rs8056735	0.90[CEU][hapmap];1.00[TSI][hapmap]

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	nsv949461	chr16:71196153-71579711	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv1064435	chr16:71440719-71488771	Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs12918320	RP11-510M2.10	cis	Skin Sun Exposed Lower leg	GTEx
rs12918320	TXNL4B	cis	parietal	SCAN
rs12918320	ZNF23	cis	parietal	SCAN
rs12918320	CBFB	cis	parietal	SCAN
rs12918320	TPPP3	cis	cerebellum	SCAN
rs12918320	C16orf86	cis	parietal	SCAN
rs12918320	TPPP3	cis	parietal	SCAN
rs12918320	CMTM1	cis	cerebellum	SCAN
rs12918320	COG4	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71461000-71464400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr16:71461200-71467000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr16:71463000-71464600	Enhancers	K562	blood
4	chr16:71463400-71464000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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