Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:119035847..119037394-chr12:119041054..119043149,2	K562	blood:

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

rs_ID	r²[population]
rs10850996	0.98[ASN][1000 genomes]
rs1851094	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1879401	0.84[ASN][1000 genomes]
rs1879403	0.84[ASN][1000 genomes]
rs1970875	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1970877	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2682734	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2682760	0.90[EUR][1000 genomes]
rs2682763	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2682773	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2730552	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2730562	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2730568	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2730574	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2730589	0.85[ASN][1000 genomes]
rs2730590	0.82[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2730591	0.85[ASN][1000 genomes]
rs2730594	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2730602	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28690202	0.95[ASN][1000 genomes]
rs4766905	0.95[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	nsv930978	chr12:118866332-119450600	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv1043906	chr12:118991884-119087146	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119028400-119038800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:119036600-119038200	Weak transcription	Pancreas	Pancrea

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