Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:127919114..127923231-chr5:127925497..127928562,3	K562	blood:

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

rs_ID	r²[population]
rs10040118	0.89[EUR][1000 genomes]
rs10044764	0.89[EUR][1000 genomes]
rs10062344	0.88[AFR][1000 genomes]
rs10073583	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10073602	0.89[EUR][1000 genomes]
rs10520005	0.89[EUR][1000 genomes]
rs12386502	0.89[EUR][1000 genomes]
rs12515907	0.89[EUR][1000 genomes]
rs1579297	0.84[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs28468674	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4371806	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55735252	0.83[AFR][1000 genomes]
rs59001046	0.90[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs6595841	0.88[AFR][1000 genomes]
rs6870036	0.89[EUR][1000 genomes]
rs73784408	0.89[EUR][1000 genomes]
rs73787627	0.86[AFR][1000 genomes]
rs73787636	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7729188	0.89[EUR][1000 genomes]
rs9327481	0.89[EUR][1000 genomes]
rs9885266	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[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	nsv531991	chr5:127624564-127966085	Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv427734	chr5:127805281-128088632	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr5:127914600-127922600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr5:127917200-127922600	Weak transcription	Hela-S3	cervix

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