Variant report

No.	Distal block	Cell Line	Cell type
1	chr2:169775702..169778963-chr2:169780525..169783462,3	K562	blood:
2	chr2:169782114..169785281-chr2:169786393..169790786,5	K562	blood:
3	chr2:169782114..169784208-chr2:169788090..169790755,2	K562	blood:

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

rs_ID	r²[population]
rs475612	0.91[EUR][1000 genomes]
rs484066	0.91[EUR][1000 genomes]
rs485094	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs486981	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs494874	0.98[EUR][1000 genomes]
rs502570	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs504979	0.87[EUR][1000 genomes]
rs508506	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs518598	0.92[EUR][1000 genomes]
rs537183	0.91[EUR][1000 genomes]
rs552976	0.99[EUR][1000 genomes]
rs557462	0.91[EUR][1000 genomes]
rs563694	0.91[EUR][1000 genomes]
rs566879	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs569829	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs578763	0.84[EUR][1000 genomes]
rs579060	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs580670	0.91[EUR][1000 genomes]
rs853777	0.86[EUR][1000 genomes]
rs853787	0.95[CEU][hapmap];0.94[EUR][1000 genomes]
rs853789	0.95[CEU][hapmap];0.94[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
Metabolic syndrome (bivariate traits)	21386085	GWAS catalog

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:169776800-169785000	Weak transcription	Fetal Intestine Small	intestine
2	chr2:169782000-169784600	Genic enhancers	Liver	Liver
3	chr2:169782400-169783600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:169782600-169783200	Enhancers	Placenta Amnion	Placenta Amnion
5	chr2:169782800-169783800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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