Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:169628645..169630407-chr2:169772441..169774167,2	K562	blood:

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

rs_ID	r²[population]
rs475612	0.98[EUR][1000 genomes]
rs484066	0.83[EUR][1000 genomes]
rs485094	0.91[EUR][1000 genomes]
rs486981	0.91[EUR][1000 genomes]
rs494874	0.91[EUR][1000 genomes]
rs502570	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs504979	0.85[EUR][1000 genomes]
rs508506	0.92[EUR][1000 genomes]
rs518598	0.98[EUR][1000 genomes]
rs537183	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs552976	0.91[EUR][1000 genomes]
rs557462	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs560887	0.94[ASN][1000 genomes]
rs566879	0.91[EUR][1000 genomes]
rs569805	0.91[EUR][1000 genomes]
rs569829	0.92[EUR][1000 genomes]
rs573225	0.81[AMR][1000 genomes]
rs578763	0.90[EUR][1000 genomes]
rs579060	0.91[EUR][1000 genomes]
rs580670	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs853787	0.96[CEU][hapmap];0.86[EUR][1000 genomes]
rs853789	0.96[CEU][hapmap];0.86[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	nsv583599	chr2:169664227-169903096	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv459943	chr2:169756930-169799010	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv583600	chr2:169756930-169799010	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Fasting plasma glucose	18521185	GWAS catalog

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs563694	DYNC1I2	cis	parietal	SCAN
rs563694	C10orf95	trans	parietal	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:169770600-169778600	Weak transcription	Liver	Liver
2	chr2:169773000-169774800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr2:169773200-169774600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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