Variant report

No.	Distal block	Cell Line	Cell type
1	chr8:124760218..124761773-chr8:124763728..124765304,2	K562	blood:
2	chr8:124762529..124765233-chr8:124782573..124785539,2	MCF-7	breast:
3	chr8:124763252..124764784-chr8:124765794..124768691,2	MCF-7	breast:
4	chr8:124762298..124765982-chr8:124768929..124771598,3	MCF-7	breast:
5	chr8:124754400..124756942-chr8:124762705..124764664,2	MCF-7	breast:
6	chr8:124736476..124738797-chr8:124763018..124765696,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11987639	0.93[EUR][1000 genomes]
rs11989364	0.93[EUR][1000 genomes]
rs11989474	0.86[EUR][1000 genomes]
rs13439358	0.90[EUR][1000 genomes]
rs1431669	0.86[EUR][1000 genomes]
rs16898846	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16898882	0.93[EUR][1000 genomes]
rs17260118	0.86[EUR][1000 genomes]
rs17351356	0.89[EUR][1000 genomes]
rs17351672	0.86[EUR][1000 genomes]
rs17351749	0.89[EUR][1000 genomes]
rs17351770	0.89[EUR][1000 genomes]
rs17352222	0.86[EUR][1000 genomes]
rs2116361	0.86[EUR][1000 genomes]
rs28490169	0.89[EUR][1000 genomes]
rs6985701	0.89[EUR][1000 genomes]
rs6990465	0.90[EUR][1000 genomes]
rs6994690	0.93[EUR][1000 genomes]
rs7007309	0.90[EUR][1000 genomes]
rs7010092	0.90[EUR][1000 genomes]
rs7013861	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7016623	0.86[EUR][1000 genomes]
rs73703653	0.93[EUR][1000 genomes]
rs73703655	0.90[EUR][1000 genomes]
rs73703656	0.86[EUR][1000 genomes]
rs7821509	0.93[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	nsv831451	chr8:124710946-124885148	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv6373	chr8:124741567-124786609	Active TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124757800-124764600	Weak transcription	Small Intestine	intestine
2	chr8:124759600-124764200	Enhancers	Fetal Intestine Small	intestine
3	chr8:124760400-124766400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr8:124762000-124766400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:124762200-124775600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:124763200-124766400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:124763400-124764800	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr8:124763400-124766600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr8:124763600-124764800	Enhancers	Pancreatic Islets	Pancreatic Islet

Quick Search: