Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:115844845..115847305-chr3:115848813..115850468,2	K562	blood:

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

rs_ID	r²[population]
rs12695321	1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13318106	0.91[CHD][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1344131	0.83[EUR][1000 genomes]
rs17697994	0.96[TSI][hapmap];0.82[EUR][1000 genomes]
rs1920379	0.96[TSI][hapmap];0.81[EUR][1000 genomes]
rs2222827	0.96[TSI][hapmap];0.81[EUR][1000 genomes]
rs35914238	0.81[EUR][1000 genomes]
rs4831229	0.83[EUR][1000 genomes]
rs4831230	0.83[EUR][1000 genomes]
rs5004406	0.81[EUR][1000 genomes]
rs56121547	0.82[EUR][1000 genomes]
rs62269170	0.82[EUR][1000 genomes]
rs66490447	0.81[EUR][1000 genomes]
rs6772113	0.83[TSI][hapmap]
rs73139202	0.82[EUR][1000 genomes]
rs7632265	0.83[EUR][1000 genomes]
rs7637650	0.83[TSI][hapmap]
rs9827733	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9839078	0.83[TSI][hapmap]
rs9857520	0.96[TSI][hapmap]
rs9866484	0.81[EUR][1000 genomes]
rs9866658	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9868784	1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9985471	0.91[CHD][hapmap];0.91[JPT][hapmap];0.92[TSI][hapmap];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012260	chr3:115680931-115935968	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	esv2756413	chr3:115721898-115908480	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	esv2751975	chr3:115766285-115902901	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	esv2755046	chr3:115818840-115942952	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv591345	chr3:115819376-115902901	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv2752728	chr3:115833212-115902901	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9809229	KIAA1407	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:115846000-115851200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr3:115847400-115849400	Enhancers	Pancreatic Islets	Pancreatic Islet

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