Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:48231847..48234454-chr16:48260372..48263239,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000121270	Chromatin interaction

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs13332870	1.00[AMR][1000 genomes]
rs13335175	1.00[AMR][1000 genomes]
rs13336203	1.00[AMR][1000 genomes]
rs13336441	1.00[AMR][1000 genomes]
rs13336832	1.00[AMR][1000 genomes]
rs13337923	1.00[AMR][1000 genomes]
rs28361908	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28379458	1.00[AMR][1000 genomes]
rs28473019	1.00[AMR][1000 genomes]
rs28539217	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28599555	1.00[AMR][1000 genomes]
rs28661941	1.00[AMR][1000 genomes]
rs28848294	1.00[AMR][1000 genomes]
rs9889104	1.00[AMR][1000 genomes]
rs9922477	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9926437	1.00[AMR][1000 genomes]
rs9926749	1.00[AMR][1000 genomes]
rs9927124	1.00[AMR][1000 genomes]
rs9928527	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9929780	1.00[AMR][1000 genomes]
rs9931267	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9931866	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9932677	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9933958	1.00[AMR][1000 genomes]
rs9934175	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9934459	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9934918	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9936494	1.00[AMR][1000 genomes]
rs9936636	1.00[AMR][1000 genomes]
rs9936892	1.00[AMR][1000 genomes]
rs9938115	1.00[AMR][1000 genomes]
rs9938594	1.00[AMR][1000 genomes]
rs9940237	1.00[AMR][1000 genomes]
rs9941354	1.00[AMR][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	nsv1059259	chr16:48113396-48304404	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv542916	chr16:48113396-48304404	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48259600-48263800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr16:48261000-48263000	Weak transcription	Stomach Mucosa	stomach
3	chr16:48261800-48263000	Weak transcription	A549	lung
4	chr16:48262800-48263200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr16:48262800-48263400	Bivalent Enhancer	HepG2	liver
6	chr16:48262800-48264200	Enhancers	Liver	Liver

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