Variant report

Variant	rs1714642
Chromosome Location	chr8:122016635-122016636
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:122015701..122018672-chr8:122022602..122025111,2	MCF-7	breast:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs12676933	0.93[ASN][1000 genomes]
rs12678662	0.87[ASN][1000 genomes]
rs12680902	0.97[ASN][1000 genomes]
rs12681516	0.93[ASN][1000 genomes]
rs1347231	0.87[ASN][1000 genomes]
rs1368603	0.93[ASN][1000 genomes]
rs1433397	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1594742	0.87[ASN][1000 genomes]
rs1594743	0.86[ASN][1000 genomes]
rs1613681	0.80[EUR][1000 genomes]
rs1631099	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1655015	0.80[AFR][1000 genomes]
rs16894516	0.97[ASN][1000 genomes]
rs16894530	0.97[ASN][1000 genomes]
rs16894534	0.97[ASN][1000 genomes]
rs1714643	0.80[EUR][1000 genomes]
rs1714645	0.80[EUR][1000 genomes]
rs1714653	0.97[ASN][1000 genomes]
rs1714661	0.82[AFR][1000 genomes]
rs1812421	0.93[ASN][1000 genomes]
rs1865180	0.97[ASN][1000 genomes]
rs2008564	0.81[AFR][1000 genomes]
rs2043373	0.95[ASN][1000 genomes]
rs2043377	0.89[ASN][1000 genomes]
rs2068952	0.93[ASN][1000 genomes]
rs2117063	0.93[ASN][1000 genomes]
rs2117064	0.93[ASN][1000 genomes]
rs2163922	0.93[ASN][1000 genomes]
rs2570065	0.84[AFR][1000 genomes]
rs4871152	0.93[ASN][1000 genomes]
rs4871154	0.93[ASN][1000 genomes]
rs4871155	0.93[ASN][1000 genomes]
rs4871156	0.93[ASN][1000 genomes]
rs4871157	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs4871158	0.87[ASN][1000 genomes]
rs4871159	0.86[ASN][1000 genomes]
rs6469984	1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[YRI][hapmap];0.93[ASN][1000 genomes]
rs6469985	0.93[ASN][1000 genomes]
rs6469986	1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs6469987	1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs6982541	0.87[ASN][1000 genomes]
rs7003498	0.93[ASN][1000 genomes]
rs7007419	1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[YRI][hapmap];0.89[ASN][1000 genomes]
rs7012535	0.93[ASN][1000 genomes]
rs73315279	0.95[ASN][1000 genomes]
rs73317195	0.89[ASN][1000 genomes]
rs73318915	0.89[ASN][1000 genomes]
rs73318932	0.87[ASN][1000 genomes]
rs961427	0.93[ASN][1000 genomes]
rs961428	0.93[ASN][1000 genomes]
rs9774583	0.93[ASN][1000 genomes]
rs9969592	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:122015600-122016800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr8:122015600-122017200	Enhancers	Fetal Lung	lung
3	chr8:122015800-122016800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr8:122016400-122016800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:122016600-122017000	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr8:122016600-122018800	Weak transcription	HSMM	muscle

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