Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr7:80959446-80959887	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:80545706..80548549-chr7:80958490..80960843,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000223514	TF binding region
ENSG00000075223	Chromatin interaction

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1012950	0.87[EUR][1000 genomes]
rs1012951	0.88[EUR][1000 genomes]
rs10215927	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10235727	0.91[CEU][hapmap];0.82[JPT][hapmap];0.87[EUR][1000 genomes]
rs10238817	0.83[ASN][1000 genomes]
rs10270613	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10486819	0.84[ASN][1000 genomes]
rs10486820	0.92[ASN][1000 genomes]
rs12539379	0.83[ASN][1000 genomes]
rs16887102	0.84[ASN][1000 genomes]
rs17155064	0.86[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs17155072	0.84[ASN][1000 genomes]
rs17626401	0.82[JPT][hapmap]
rs2189565	0.91[CEU][hapmap];0.83[GIH][hapmap];0.82[JPT][hapmap];0.92[TSI][hapmap];0.88[EUR][1000 genomes]
rs245441	0.81[AMR][1000 genomes]
rs2886992	0.87[CEU][hapmap];0.82[JPT][hapmap];0.87[EUR][1000 genomes]
rs3948712	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6943816	0.82[JPT][hapmap]
rs6950573	0.82[JPT][hapmap];0.87[EUR][1000 genomes]
rs6960200	0.84[ASN][1000 genomes]
rs6962364	0.82[JPT][hapmap]
rs7790064	0.84[ASN][1000 genomes]
rs7794553	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs995353	0.82[JPT][hapmap]

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	nsv1034690	chr7:80520004-80987682	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv1029034	chr7:80838012-81137146	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv831045	chr7:80841693-81012404	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2040901	PHTF2	cis	cerebellum	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80930000-80961000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:80947600-80962200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr7:80952600-80962400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr7:80957400-80960000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:80957400-80960200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:80957400-80960200	Weak transcription	NH-A	brain
7	chr7:80957400-80961000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr7:80957400-80961000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr7:80957600-80960600	Weak transcription	NHEK	skin
10	chr7:80959200-80962000	Enhancers	HUVEC	blood vessel

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