Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:80689193..80691677-chr16:80694873..80698122,4	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11150298	0.80[CHB][hapmap];0.81[JPT][hapmap]
rs12444299	0.92[EUR][1000 genomes]
rs12716895	0.87[ASN][1000 genomes]
rs12920375	0.80[ASN][1000 genomes]
rs12931703	0.80[ASN][1000 genomes]
rs13331233	0.87[EUR][1000 genomes]
rs1377119	0.83[CEU][hapmap];0.84[EUR][1000 genomes]
rs1452505	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2123284	0.92[CEU][hapmap];0.90[EUR][1000 genomes]
rs2316152	0.84[JPT][hapmap]
rs2873084	0.80[CHB][hapmap]
rs2873085	0.81[EUR][1000 genomes]
rs34889599	0.81[EUR][1000 genomes]
rs4061956	0.81[EUR][1000 genomes]
rs4366717	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4536490	0.80[ASN][1000 genomes]
rs4550468	0.87[ASN][1000 genomes]
rs4889189	0.80[EUR][1000 genomes]
rs4889190	0.92[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4889191	0.83[EUR][1000 genomes]
rs4889192	0.86[EUR][1000 genomes]
rs4889194	0.81[AMR][1000 genomes]
rs6564778	0.82[ASN][1000 genomes]
rs8048112	0.84[EUR][1000 genomes]
rs8053722	0.84[EUR][1000 genomes]
rs8055716	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9888872	0.83[EUR][1000 genomes]
rs9930141	0.82[CEU][hapmap];0.90[CHB][hapmap];0.85[JPT][hapmap];0.81[YRI][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9931314	0.80[AMR][1000 genomes];0.88[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	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
2	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
3	nsv1058764	chr16:80656966-80707848	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1057357	chr16:80662770-80794945	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80674400-80707600	Weak transcription	Placenta	Placenta
2	chr16:80687000-80716200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr16:80689000-80751000	Weak transcription	Pancreas	Pancrea
4	chr16:80689800-80700200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr16:80690600-80728000	Weak transcription	Gastric	stomach
6	chr16:80690800-80703200	Weak transcription	Esophagus	oesophagus
7	chr16:80691000-80704400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr16:80694000-80698600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr16:80695000-80696600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr16:80695600-80696000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr16:80695600-80697000	Strong transcription	Hela-S3	cervix
12	chr16:80695600-80703200	Weak transcription	Lung	lung
13	chr16:80695800-80698200	Weak transcription	HUVEC	blood vessel
14	chr16:80695800-80700800	Weak transcription	Adipose Nuclei	Adipose

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