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:24)

rs_ID	r²[population]
rs10165992	0.94[EUR][1000 genomes]
rs10755000	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10931253	0.81[ASN][1000 genomes]
rs12618322	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12620821	0.81[ASN][1000 genomes]
rs13028008	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17406229	0.81[ASN][1000 genomes]
rs2012128	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2012401	0.82[ASN][1000 genomes]
rs2121975	0.81[ASN][1000 genomes]
rs2121976	0.87[EUR][1000 genomes]
rs2595383	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2595386	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2595395	0.94[EUR][1000 genomes]
rs2682863	0.95[EUR][1000 genomes]
rs2682868	0.87[EUR][1000 genomes]
rs2682873	0.87[EUR][1000 genomes]
rs3114941	0.83[ASN][1000 genomes]
rs55961288	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6705757	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs718259	0.82[ASN][1000 genomes]
rs7421739	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs930657	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9789704	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]

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	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

No data

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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