Variant report

Variant	rs4500741
Chromosome Location	chr16:80072758-80072759
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F4	chr16:80072736-80072960	MCF10A-Er-Src	breast:	n/a	n/a
2	MYC	chr16:80072492-80072826	MCF10A-Er-Src	breast:	n/a	n/a
3	MYC	chr16:80072487-80072853	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr16:80072160-80072915	K562	blood:	n/a	n/a
5	FOS	chr16:80072348-80072824	MCF10A-Er-Src	breast:	n/a	chr16:80072642-80072651 chr16:80072643-80072654
6	FOS	chr16:80072198-80072826	MCF10A-Er-Src	breast:	n/a	chr16:80072642-80072651 chr16:80072643-80072654
7	FOS	chr16:80072175-80072824	MCF10A-Er-Src	breast:	n/a	chr16:80072642-80072651 chr16:80072643-80072654
8	FOS	chr16:80072505-80072817	MCF10A-Er-Src	breast:	n/a	chr16:80072642-80072651 chr16:80072643-80072654

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:80071404..80074131-chr16:80075886..80077558,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260237	TF binding region

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1115722	0.86[EUR][1000 genomes]
rs11645922	0.96[EUR][1000 genomes]
rs12716881	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12921255	0.96[EUR][1000 genomes]
rs13333795	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1478505	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1478506	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2199645	0.85[EUR][1000 genomes]
rs34941385	0.82[EUR][1000 genomes]
rs4354957	0.91[CEU][hapmap];0.95[JPT][hapmap];0.91[EUR][1000 genomes]
rs4363873	0.80[EUR][1000 genomes]
rs4365299	0.95[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4402582	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4407073	0.87[CEU][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4500745	0.88[EUR][1000 genomes]
rs4545830	0.81[EUR][1000 genomes]
rs4888067	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4889067	0.95[CEU][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4889068	0.95[CEU][hapmap];0.97[EUR][1000 genomes]
rs4889076	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4889084	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4889086	0.91[CEU][hapmap];0.90[EUR][1000 genomes]
rs4889090	0.95[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap];0.90[EUR][1000 genomes]
rs4889092	0.90[EUR][1000 genomes]
rs4889093	0.85[EUR][1000 genomes]
rs6564727	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6564728	0.86[CEU][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6564729	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6564730	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7184607	0.85[EUR][1000 genomes]
rs7185080	0.86[EUR][1000 genomes]
rs7192544	0.91[CEU][hapmap];0.90[CHB][hapmap];0.84[JPT][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7192753	0.86[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.91[EUR][1000 genomes]
rs7193465	0.83[CEU][hapmap];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8050142	0.91[CEU][hapmap];0.90[JPT][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8050160	0.91[CEU][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8050173	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8057937	0.82[EUR][1000 genomes]
rs8059251	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9937844	0.95[CEU][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9940390	0.81[EUR][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	nsv573285	chr16:79158182-80127326	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv573294	chr16:80005642-80131944	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80062000-80075000	Weak transcription	NH-A	brain
2	chr16:80064600-80073600	Weak transcription	HMEC	breast
3	chr16:80070200-80074800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr16:80070800-80074200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr16:80072000-80072800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr16:80072200-80073000	Enhancers	NHEK	skin
7	chr16:80072200-80076000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr16:80072400-80072800	Enhancers	Esophagus	oesophagus

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