Variant report

Variant	rs1367498
Chromosome Location	chr8:125755495-125755496
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10094741	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10099679	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11779284	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11779454	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11780853	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11783027	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11783029	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12676992	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12681133	0.80[ASN][1000 genomes]
rs12681194	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12681209	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1367499	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1835487	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2010957	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4310191	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57336458	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6470267	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6983655	0.81[AFR][1000 genomes]
rs6999479	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs713557	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72716906	0.80[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:22 , 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	chr8:125755000-125756000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr8:125755000-125756000	Enhancers	Pancreas	Pancrea
6	chr8:125755200-125755600	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr8:125755200-125755600	Flanking Active TSS	Liver	Liver
8	chr8:125755200-125756000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr8:125755200-125756000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr8:125755200-125756000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:125755200-125756000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr8:125755200-125756000	Flanking Active TSS	HepG2	liver
13	chr8:125755200-125756000	Enhancers	HMEC	breast
14	chr8:125755200-125756000	Enhancers	HUVEC	blood vessel
15	chr8:125755200-125756000	Enhancers	Osteobl	bone
16	chr8:125755400-125755600	Enhancers	Fetal Stomach	stomach
17	chr8:125755400-125755800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr8:125755400-125755800	Enhancers	NH-A	brain
19	chr8:125755400-125755800	Enhancers	NHDF-Ad	bronchial
20	chr8:125755400-125755800	Enhancers	NHEK	skin
21	chr8:125755400-125756000	Enhancers	Muscle Satellite Cultured Cells	--
22	chr8:125755400-125756000	Enhancers	Stomach Smooth Muscle	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links