Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:80578481..80581732-chr16:80582379..80586138,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168589	Chromatin interaction

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs16953630	1.00[EUR][1000 genomes]
rs4258630	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4291914	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7186842	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7187446	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7188110	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7189758	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7191601	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7206475	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs726811	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73580250	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73580255	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73580273	1.00[EUR][1000 genomes]
rs73580290	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73580293	1.00[EUR][1000 genomes]
rs73580295	1.00[EUR][1000 genomes]
rs73580299	1.00[EUR][1000 genomes]
rs73588482	1.00[EUR][1000 genomes]
rs73588498	1.00[EUR][1000 genomes]
rs73588500	1.00[EUR][1000 genomes]
rs74029692	1.00[EUR][1000 genomes]
rs8049769	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8052782	0.86[AMR][1000 genomes];1.00[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	nsv907001	chr16:80405292-80620611	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv833300	chr16:80475066-80601036	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1060621	chr16:80532848-80980616	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv542989	chr16:80532848-80980616	Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80575400-80587200	Weak transcription	Pancreas	Pancrea
2	chr16:80575400-80587800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr16:80584800-80586000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr16:80585800-80586000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr16:80585800-80586200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr16:80585800-80586400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr16:80585800-80586400	Enhancers	Esophagus	oesophagus
8	chr16:80585800-80586600	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr16:80585800-80586800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr16:80585800-80586800	Enhancers	HMEC	breast
11	chr16:80585800-80586800	Flanking Active TSS	NHEK	skin
12	chr16:80585800-80590800	Weak transcription	Fetal Muscle Trunk	muscle

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