Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:180047579..180049085-chr3:180051664..180053995,2	K562	blood:

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10212210	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16831443	1.00[EUR][1000 genomes]
rs16831525	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6785971	1.00[EUR][1000 genomes]
rs6786124	1.00[EUR][1000 genomes]
rs73043171	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73063099	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7621254	0.83[EUR][1000 genomes]
rs7624432	0.86[EUR][1000 genomes]
rs7624515	1.00[EUR][1000 genomes]
rs7624538	1.00[EUR][1000 genomes]
rs7625261	1.00[EUR][1000 genomes]
rs7627115	0.83[EUR][1000 genomes]
rs7630834	1.00[EUR][1000 genomes]
rs7636332	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7636615	0.83[EUR][1000 genomes]
rs7636870	1.00[EUR][1000 genomes]
rs7639201	1.00[EUR][1000 genomes]
rs7653060	1.00[EUR][1000 genomes]
rs9290699	1.00[EUR][1000 genomes]
rs9290700	1.00[EUR][1000 genomes]
rs9290702	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9290703	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9840547	1.00[EUR][1000 genomes]
rs9882220	0.83[AFR][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	nsv1012271	chr3:179806875-180234871	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv878040	chr3:179823887-180128288	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv997388	chr3:179899279-180172349	Enhancers Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv536817	chr3:179899279-180172349	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv878041	chr3:179983857-180097855	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr3:180047200-180052800	Weak transcription	Ovary	ovary
2	chr3:180048400-180049400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:180048600-180049200	Weak transcription	GM12878-XiMat	blood
4	chr3:180049000-180049600	Enhancers	HMEC	breast

Quick Search: