Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:73239217..73240861-chr6:73262225..73264019,2	K562	blood:
2	chr6:73240421..73243300-chr6:73244764..73247012,2	K562	blood:

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1328854	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16882514	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6453587	0.95[EUR][1000 genomes]
rs72939316	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72939331	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72939337	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72939341	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72946163	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72946166	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72946180	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72946188	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72946195	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72946200	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72948110	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72948112	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72948119	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72948122	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72948128	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72948131	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72948134	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72950036	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72950038	0.91[AMR][1000 genomes];0.89[EUR][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	nsv1023809	chr6:73157813-73477997	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv538303	chr6:73157813-73477997	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:73232800-73243000	Weak transcription	K562	blood
2	chr6:73236000-73242800	Weak transcription	HSMMtube	muscle
3	chr6:73236200-73241400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr6:73236200-73242200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr6:73239600-73241600	Enhancers	NHEK	skin
6	chr6:73239600-73241800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr6:73239600-73242200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr6:73240000-73241800	Enhancers	HMEC	breast
9	chr6:73240600-73250600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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