Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:126431823..126435408-chr5:126435480..126438408,3	MCF-7	breast:
2	chr5:126408039..126410323-chr5:126436607..126438479,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164241	Chromatin interaction

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11949784	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11950032	0.82[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs11952890	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11958485	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11959383	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12109713	0.94[EUR][1000 genomes]
rs58134448	0.96[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs58159475	0.89[EUR][1000 genomes]
rs61146816	0.94[EUR][1000 genomes]
rs6860157	0.94[EUR][1000 genomes]
rs73339263	0.94[EUR][1000 genomes]
rs73339278	0.94[EUR][1000 genomes]
rs73339281	0.94[EUR][1000 genomes]
rs73339286	0.94[EUR][1000 genomes]
rs73783512	0.94[EUR][1000 genomes]
rs73783538	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73783539	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73783540	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73783541	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73783557	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73783560	1.00[EUR][1000 genomes]
rs73783575	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73783579	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73783580	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73787407	0.88[EUR][1000 genomes]
rs73787408	0.88[EUR][1000 genomes]
rs9918170	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024265	chr5:126213004-126691163	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv869897	chr5:126224358-126445210	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	esv1816248	chr5:126399039-126486539	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126433400-126444200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:126435800-126438400	Enhancers	Fetal Intestine Small	intestine
3	chr5:126437000-126438200	Enhancers	Fetal Intestine Large	intestine

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