Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:70217391..70220206-chr1:70220660..70223885,3	K562	blood:

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10889849	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10889850	0.84[ASN][1000 genomes]
rs11209528	0.84[ASN][1000 genomes]
rs11209529	0.84[ASN][1000 genomes]
rs11209530	0.84[ASN][1000 genomes]
rs11209536	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12565200	0.84[ASN][1000 genomes]
rs1264338	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1268441	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1340766	0.84[ASN][1000 genomes]
rs1340767	0.84[ASN][1000 genomes]
rs1417441	0.84[ASN][1000 genomes]
rs1417443	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1417444	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1612509	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17397812	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1796964	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2000091	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2007721	0.84[ASN][1000 genomes]
rs61784010	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6667737	0.84[ASN][1000 genomes]
rs6686211	0.84[ASN][1000 genomes]
rs6700510	0.84[ASN][1000 genomes]
rs7524277	0.88[ASN][1000 genomes]
rs987013	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]

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	nsv949691	chr1:69749722-70302201	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv3384194	chr1:69885024-70275430	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70214200-70233400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:70217800-70219800	Enhancers	Fetal Brain Female	brain
3	chr1:70218400-70219800	Enhancers	NHEK	skin
4	chr1:70218400-70223000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:70218600-70220000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:70218800-70219800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:70219000-70220000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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