Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:125755220..125757743-chr8:125826134..125827699,2	MCF-7	breast:
2	chr8:125751576..125753119-chr8:125754133..125756960,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10090498	0.84[ASN][1000 genomes]
rs10099691	0.82[ASN][1000 genomes]
rs10956204	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10956205	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10956206	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12546316	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13257885	0.89[AFR][1000 genomes]
rs1367501	0.89[AFR][1000 genomes]
rs2017613	0.89[AFR][1000 genomes]
rs2017614	0.89[AFR][1000 genomes]
rs34023335	0.90[AFR][1000 genomes]
rs34605754	0.90[AFR][1000 genomes]
rs35255062	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35656960	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4412352	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4548168	0.89[AFR][1000 genomes]
rs4607590	0.89[AFR][1000 genomes]
rs4870924	0.93[ASN][1000 genomes]
rs68053134	0.90[AFR][1000 genomes]
rs723057	0.89[AFR][1000 genomes]
rs7459793	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7844119	0.86[ASN][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	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1016502	chr8:125657664-125845074	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
3	nsv891435	chr8:125747374-125764361	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv517427	chr8:125749707-125766271	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125752800-125756200	Enhancers	Fetal Intestine Small	intestine
2	chr8:125753000-125755600	Enhancers	Stomach Mucosa	stomach
3	chr8:125754000-125756200	Enhancers	Fetal Intestine Large	intestine
4	chr8:125754200-125755400	Weak transcription	Fetal Stomach	stomach
5	chr8:125755000-125756000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr8:125755000-125756000	Enhancers	Pancreas	Pancrea
7	chr8:125755200-125755600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr8:125755200-125755600	Flanking Active TSS	Liver	Liver
9	chr8:125755200-125756000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:125755200-125756000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr8:125755200-125756000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:125755200-125756000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr8:125755200-125756000	Flanking Active TSS	HepG2	liver
14	chr8:125755200-125756000	Enhancers	HMEC	breast
15	chr8:125755200-125756000	Enhancers	HUVEC	blood vessel
16	chr8:125755200-125756000	Enhancers	Osteobl	bone

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