Variant report

No.	Distal block	Cell Line	Cell type
1	chr2:169786046..169790721-chr2:169791105..169793269,7	K562	blood:
2	chr2:169786175..169787842-chr2:169790022..169792069,2	MCF-7	breast:
3	chr2:169790519..169792634-chr2:169793983..169795668,2	K562	blood:

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs475612	0.90[EUR][1000 genomes]
rs484066	0.90[EUR][1000 genomes]
rs485094	0.99[EUR][1000 genomes]
rs486981	0.99[EUR][1000 genomes]
rs494874	0.99[EUR][1000 genomes]
rs502570	0.91[EUR][1000 genomes]
rs504979	0.86[EUR][1000 genomes]
rs508506	0.99[EUR][1000 genomes]
rs518598	0.91[EUR][1000 genomes]
rs537183	0.91[EUR][1000 genomes]
rs557462	0.91[EUR][1000 genomes]
rs563694	0.91[EUR][1000 genomes]
rs566879	0.99[EUR][1000 genomes]
rs569805	0.99[EUR][1000 genomes]
rs569829	0.99[EUR][1000 genomes]
rs578763	0.83[EUR][1000 genomes]
rs579060	0.98[EUR][1000 genomes]
rs580670	0.90[EUR][1000 genomes]
rs853777	0.86[EUR][1000 genomes]
rs853787	0.96[CEU][hapmap];0.81[GIH][hapmap];0.81[MEX][hapmap];0.90[TSI][hapmap];0.94[EUR][1000 genomes]
rs853789	0.96[CEU][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][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
Glycated hemoglobin levels	20858683	GWAS catalog

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs552976	AADAT	trans	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:169787400-169792200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:169788200-169802600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr2:169789400-169795200	Strong transcription	Liver	Liver
4	chr2:169790600-169791600	Enhancers	K562	blood
5	chr2:169790800-169792800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:169791200-169793000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:169791400-169791800	Enhancers	NHDF-Ad	bronchial
8	chr2:169791400-169792600	Enhancers	Osteobl	bone

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