Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:54158673..54160817-chr5:54181128..54182793,2	K562	blood:

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10044930	0.89[ASN][1000 genomes]
rs1005622	0.81[EUR][1000 genomes]
rs13161386	0.81[EUR][1000 genomes]
rs13161718	0.81[EUR][1000 genomes]
rs1560167	0.81[EUR][1000 genomes]
rs1965716	0.96[ASN][1000 genomes]
rs1991498	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2017318	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2017540	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2407758	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2897758	0.97[ASN][1000 genomes]
rs4074332	0.80[ASN][1000 genomes]
rs4315891	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4373237	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4407587	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4446420	0.87[ASN][1000 genomes]
rs4865586	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4865587	0.87[ASN][1000 genomes]
rs4865881	0.81[EUR][1000 genomes]
rs4865883	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6860824	0.95[EUR][1000 genomes]
rs6893903	0.90[EUR][1000 genomes]
rs734097	0.98[ASN][1000 genomes]
rs7708368	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7734613	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs976645	0.95[ASN][1000 genomes]
rs981978	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[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	nsv830300	chr5:54056300-54257344	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv3358092	chr5:54077828-54189150	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv598179	chr5:54156269-54192823	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:54180400-54187800	Weak transcription	Gastric	stomach
2	chr5:54180800-54185200	Weak transcription	Fetal Heart	heart
3	chr5:54181000-54182200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
4	chr5:54181200-54181400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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