Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:80689193..80691677-chr16:80694873..80698122,4	MCF-7	breast:
2	chr16:80696124..80697869-chr16:80698359..80700017,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000265341	Chromatin interaction

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10514504	1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs16953755	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs16953756	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16953773	1.00[CHB][hapmap];0.83[AMR][1000 genomes]
rs1869191	0.95[ASN][1000 genomes]
rs41368550	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs41461644	1.00[CHB][hapmap];0.83[CHD][hapmap];0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs56969697	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs59138080	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs59559356	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6564777	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6564778	1.00[YRI][hapmap]
rs6564780	1.00[CHB][hapmap]
rs6564781	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6564782	0.83[CHD][hapmap]
rs7186836	1.00[CHB][hapmap]
rs7190255	1.00[CHB][hapmap]
rs7191647	1.00[CHB][hapmap]
rs7195009	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7203749	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7204905	0.83[CHD][hapmap]
rs8046128	0.95[ASN][1000 genomes]
rs9926868	0.83[CHD][hapmap]
rs9928210	1.00[CHB][hapmap]
rs9933370	1.00[CHB][hapmap]

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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16953758	CTNND1	trans	lymphoblastoid	seeQTL

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	chr16:80695600-80697000	Strong transcription	Hela-S3	cervix
10	chr16:80695600-80703200	Weak transcription	Lung	lung
11	chr16:80695800-80698200	Weak transcription	HUVEC	blood vessel
12	chr16:80695800-80700800	Weak transcription	Adipose Nuclei	Adipose
13	chr16:80696600-80705200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr16:80696800-80697400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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