Variant report

No.	Distal block	Cell Line	Cell type
1	chr16:71556318..71559319-chr16:71561102..71564368,3	K562	blood:
2	chr16:71556262..71558190-chr16:71561391..71563610,2	MCF-7	breast:
3	chr16:71562630..71564970-chr16:71679393..71680971,2	K562	blood:

Variant related genes	Relation type
ENSG00000140835	Chromatin interaction

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10500556	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10500561	0.89[ASW][hapmap];1.00[MEX][hapmap]
rs11861972	1.00[AMR][1000 genomes]
rs11863110	1.00[MEX][hapmap]
rs16973164	0.91[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16973278	1.00[MEX][hapmap]
rs16973322	1.00[MEX][hapmap]
rs16973331	0.89[ASW][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap]
rs2004142	1.00[AMR][1000 genomes]
rs4297683	0.80[AFR][1000 genomes]
rs56996503	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59737920	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60009511	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61559998	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7191509	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7201189	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7202726	1.00[AMR][1000 genomes]
rs7205342	0.89[ASW][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap]
rs8054498	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8056168	0.89[ASW][hapmap];1.00[MEX][hapmap]
rs8060844	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv906892	chr16:71526720-71570413	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	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

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71556000-71563200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr16:71560600-71565200	Weak transcription	Lung	lung
3	chr16:71560600-71583400	Weak transcription	Pancreas	Pancrea
4	chr16:71560800-71563400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr16:71560800-71565400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr16:71561000-71563000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr16:71561000-71582400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr16:71561200-71563200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr16:71561200-71576400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr16:71561400-71562800	Weak transcription	H1 Cell Line	embryonic stem cell

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