Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:80611783..80614483-chr16:80638883..80641243,2	MCF-7	breast:
2	chr16:80598399..80600334-chr16:80611108..80613463,2	MCF-7	breast:

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

rs_ID	r²[population]
rs16953630	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4258630	1.00[EUR][1000 genomes]
rs4291914	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7186842	1.00[EUR][1000 genomes]
rs7187446	1.00[EUR][1000 genomes]
rs7188110	1.00[EUR][1000 genomes]
rs7189758	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7191601	1.00[EUR][1000 genomes]
rs7206475	1.00[EUR][1000 genomes]
rs726811	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73580250	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73580255	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73580262	1.00[EUR][1000 genomes]
rs73580273	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73580290	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73580293	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73580295	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73580299	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73588498	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73588500	1.00[EUR][1000 genomes]
rs74029692	1.00[EUR][1000 genomes]
rs8049769	1.00[EUR][1000 genomes]
rs8052782	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	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
3	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:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80611600-80614000	Enhancers	Primary T helper cells PMA-I stimulated	--
2	chr16:80611800-80614000	Enhancers	Primary T helper naive cells from peripheral blood	blood
3	chr16:80611800-80614200	Enhancers	Primary T cells fromperipheralblood	blood
4	chr16:80611800-80615800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr16:80612000-80614200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr16:80612000-80616200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr16:80612200-80614000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr16:80612200-80614200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
9	chr16:80612200-80615800	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr16:80612200-80616000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr16:80612200-80618600	Weak transcription	Small Intestine	intestine
12	chr16:80612400-80614000	Weak transcription	Duodenum Mucosa	Duodenum
13	chr16:80613000-80613400	Enhancers	GM12878-XiMat	blood
14	chr16:80613000-80614000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr16:80613000-80614200	Enhancers	Primary T killer memory cells from peripheral blood	blood

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