Variant report

Variant	rs4871146
Chromosome Location	chr8:121988258-121988259
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:121988250..121991241-chr8:122187936..122189513,2	MCF-7	breast:

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10505385	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12542034	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1368598	0.94[ASN][1000 genomes]
rs1368599	0.94[ASN][1000 genomes]
rs1368600	0.94[ASN][1000 genomes]
rs1433395	0.92[ASN][1000 genomes]
rs1560773	0.94[ASN][1000 genomes]
rs1560774	0.94[ASN][1000 genomes]
rs1560775	0.94[ASN][1000 genomes]
rs1623074	0.95[ASN][1000 genomes]
rs1625519	0.95[ASN][1000 genomes]
rs1626939	0.95[ASN][1000 genomes]
rs1630924	0.94[ASN][1000 genomes]
rs1654997	0.92[ASN][1000 genomes]
rs1654999	0.92[ASN][1000 genomes]
rs1655003	0.94[ASN][1000 genomes]
rs1655004	0.94[ASN][1000 genomes]
rs1655005	0.95[ASN][1000 genomes]
rs1655007	0.95[ASN][1000 genomes]
rs1655010	0.94[ASN][1000 genomes]
rs1655012	0.92[ASN][1000 genomes]
rs1655013	0.94[ASN][1000 genomes]
rs1655015	0.95[ASN][1000 genomes]
rs16894470	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16894477	1.00[EUR][1000 genomes]
rs16894478	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16894479	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16894488	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16894521	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16894630	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1714641	0.90[ASN][1000 genomes]
rs1714656	0.92[ASN][1000 genomes]
rs1714657	0.92[ASN][1000 genomes]
rs1714660	0.89[ASN][1000 genomes]
rs1714661	0.92[ASN][1000 genomes]
rs1714665	0.95[ASN][1000 genomes]
rs1714667	0.95[ASN][1000 genomes]
rs1714668	0.95[ASN][1000 genomes]
rs1714669	0.94[ASN][1000 genomes]
rs17196440	0.96[ASN][1000 genomes]
rs17196489	0.95[ASN][1000 genomes]
rs17256063	0.95[ASN][1000 genomes]
rs2386233	0.95[ASN][1000 genomes]
rs2570065	0.92[ASN][1000 genomes]
rs2570068	0.94[ASN][1000 genomes]
rs2680582	0.92[ASN][1000 genomes]
rs41509847	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4871145	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56040246	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs715236	0.92[ASN][1000 genomes]
rs715237	0.92[ASN][1000 genomes]
rs715238	0.92[ASN][1000 genomes]
rs72711625	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72711628	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72711672	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72711677	0.81[ASN][1000 genomes]
rs72711678	0.81[ASN][1000 genomes]
rs919849	0.95[ASN][1000 genomes]
rs919850	0.95[ASN][1000 genomes]
rs919851	0.95[ASN][1000 genomes]
rs9643153	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891423	chr8:121847643-121994660	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv465790	chr8:121853405-122185415	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv612114	chr8:121853405-122185415	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv891424	chr8:121873345-122393258	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv891425	chr8:121875083-122025559	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv1844734	chr8:121928250-122283585	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121981200-121988600	Weak transcription	Fetal Lung	lung
2	chr8:121983800-121988400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr8:121985400-121989800	Weak transcription	HSMMtube	muscle
4	chr8:121985600-121988600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:121985800-121988400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr8:121985800-121989400	Weak transcription	HSMM	muscle
7	chr8:121987800-121988800	Enhancers	Muscle Satellite Cultured Cells	--
8	chr8:121987800-121989200	Enhancers	NHLF	lung
9	chr8:121987800-121990000	Enhancers	NHDF-Ad	bronchial
10	chr8:121988000-121988400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr8:121988000-121988600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr8:121988000-121988600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr8:121988000-121988800	Enhancers	Fetal Stomach	stomach
14	chr8:121988200-121988600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr8:121988200-121989400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:121988200-121989600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:121988200-121989800	Enhancers	Osteobl	bone

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