Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:49056050..49058836-chr6:49063440..49065023,2	K562	blood:

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11755620	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4361604	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4562139	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56104201	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6915262	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72868420	0.83[EUR][1000 genomes]
rs72868451	0.82[EUR][1000 genomes]
rs7744544	0.82[EUR][1000 genomes]
rs9349476	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9349479	0.81[EUR][1000 genomes]
rs9357600	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9357606	0.82[EUR][1000 genomes]
rs9369863	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9369864	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9381737	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9381738	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9381742	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9381750	0.82[EUR][1000 genomes]
rs9381752	0.80[EUR][1000 genomes]
rs9395456	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949690	chr6:48595821-49289855	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv603049	chr6:48931959-49169337	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv885880	chr6:48975662-49102186	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv3330748	chr6:49063593-49065866	ZNF genes & repeats Bivalent/Poised TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
5	esv3338257	chr6:49063893-49065641	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:49040400-49089600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:49065000-49065200	Bivalent/Poised TSS	Liver	Liver
3	chr6:49065000-49065600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:49065000-49065800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:49065000-49065800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
6	chr6:49065000-49065800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell

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