Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:187626591..187628970-chr2:187631316..187633889,2	K562	blood:

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10165992	0.93[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs1072901	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes]
rs12471718	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12475476	0.93[JPT][hapmap]
rs13020260	1.00[CEU][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17406346	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.94[EUR][1000 genomes]
rs2012128	0.82[AFR][1000 genomes]
rs2012401	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2121976	1.00[JPT][hapmap];0.96[YRI][hapmap]
rs2595383	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs2595386	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs2595395	1.00[ASW][hapmap];0.93[JPT][hapmap];1.00[LWK][hapmap];0.82[MEX][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs2682863	0.90[AFR][1000 genomes]
rs2682873	1.00[JPT][hapmap];0.96[YRI][hapmap]
rs3114941	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4666713	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4667112	0.86[EUR][1000 genomes]
rs4667113	0.87[EUR][1000 genomes]
rs62173041	0.94[EUR][1000 genomes]
rs62173045	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs718259	0.93[JPT][hapmap]
rs9967663	0.84[AMR][1000 genomes];0.95[EUR][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	nsv428069	chr2:187575692-187766209	ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv3495864	chr2:187633495-187686087	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv3495865	chr2:187633495-187686087	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2595384	STRA6	trans	cerebellum	SCAN
rs2595384	TFPI	cis	parietal	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187612000-187636200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:187613800-187634000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:187622600-187636200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:187623000-187636200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:187627200-187636800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:187627600-187634000	Weak transcription	Placenta	Placenta
7	chr2:187627600-187635200	Weak transcription	Brain Substantia Nigra	brain
8	chr2:187628000-187635200	Weak transcription	Brain Inferior Temporal Lobe	brain

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