Variant report

Variant	rs9287957
Chromosome Location	chr2:173500587-173500588
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:173499964..173502739-chr2:173506139..173507845,2	MCF-7	breast:

Extended variants
information (count: 102 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs10048692	0.80[ASN][1000 genomes]
rs10048707	0.80[ASN][1000 genomes]
rs10048825	0.80[ASN][1000 genomes]
rs10172894	1.00[CHB][hapmap]
rs10176813	0.80[ASN][1000 genomes]
rs10178654	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs10180021	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs10186869	0.80[ASN][1000 genomes]
rs10197678	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10199472	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs10201129	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs10202550	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs10207262	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10208151	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs10210546	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs10427189	0.80[ASN][1000 genomes]
rs10427315	0.80[ASN][1000 genomes]
rs11887454	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs11890159	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs11891127	0.80[ASN][1000 genomes]
rs11895461	1.00[CHB][hapmap]
rs11896032	0.80[ASN][1000 genomes]
rs11896178	0.80[ASN][1000 genomes]
rs11897165	0.80[ASN][1000 genomes]
rs11897495	0.80[ASN][1000 genomes]
rs11897582	0.80[ASN][1000 genomes]
rs11898137	0.80[ASN][1000 genomes]
rs11898565	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11898890	0.80[ASN][1000 genomes]
rs11901110	0.80[ASN][1000 genomes]
rs11902810	0.80[ASN][1000 genomes]
rs11902907	0.80[ASN][1000 genomes]
rs11904366	1.00[CHD][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs12693005	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs12693007	0.80[ASN][1000 genomes]
rs12990751	0.80[ASN][1000 genomes]
rs13007707	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13009291	0.80[ASN][1000 genomes]
rs13010205	0.80[ASN][1000 genomes]
rs13023751	0.80[ASN][1000 genomes]
rs13024218	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13024431	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13032610	0.80[ASN][1000 genomes]
rs13032692	0.80[ASN][1000 genomes]
rs13385403	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs13385644	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13386103	0.80[ASN][1000 genomes]
rs13388338	0.80[ASN][1000 genomes]
rs13392808	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs13394924	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs13401945	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13401980	0.80[ASN][1000 genomes]
rs13405998	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13408780	1.00[ASN][1000 genomes]
rs13415156	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13415174	0.80[ASN][1000 genomes]
rs13417334	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs13425344	1.00[ASN][1000 genomes]
rs1531151	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16860696	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs16860697	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs17299956	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs17702263	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs1869922	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs1982410	0.80[ASN][1000 genomes]
rs2290564	0.80[ASN][1000 genomes]
rs2599267	1.00[ASN][1000 genomes]
rs2606069	1.00[ASN][1000 genomes]
rs28537209	0.80[ASN][1000 genomes]
rs3087500	0.80[ASN][1000 genomes]
rs34139806	0.80[ASN][1000 genomes]
rs34382224	0.84[EUR][1000 genomes]
rs34611798	1.00[ASN][1000 genomes]
rs34707897	0.80[ASN][1000 genomes]
rs34888332	0.80[ASN][1000 genomes]
rs35086707	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35156154	1.00[ASN][1000 genomes]
rs35665064	0.80[ASN][1000 genomes]
rs35809888	0.80[ASN][1000 genomes]
rs35880823	0.80[ASN][1000 genomes]
rs35951155	0.80[ASN][1000 genomes]
rs36118221	0.80[ASN][1000 genomes]
rs3613	0.80[ASN][1000 genomes]
rs3816536	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs59104969	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62169270	0.80[ASN][1000 genomes]
rs62169301	1.00[ASN][1000 genomes]
rs66460331	0.80[ASN][1000 genomes]
rs6723872	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs6752257	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs7566884	0.87[ASN][1000 genomes]
rs7567092	0.87[ASN][1000 genomes]
rs836589	1.00[ASN][1000 genomes]
rs836590	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	esv2760591	chr2:173396905-173719520	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv875415	chr2:173444462-173501069	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv875416	chr2:173444462-173504674	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv583665	chr2:173460640-173643087	Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv875417	chr2:173460803-173501069	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv875418	chr2:173460803-173504674	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	esv2762962	chr2:173493078-173527311	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 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	chr2:173461400-173504200	Weak transcription	NHEK	skin
2	chr2:173462200-173507400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr2:173472600-173504600	Weak transcription	Adipose Nuclei	Adipose
4	chr2:173474600-173504400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:173489200-173507200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr2:173489400-173504200	Weak transcription	NHLF	lung
7	chr2:173490200-173500600	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr2:173494600-173503800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:173494600-173504200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:173494600-173510200	Weak transcription	Primary T cells from cord blood	blood
11	chr2:173494800-173503800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:173494800-173504400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:173494800-173504400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:173499800-173513000	Weak transcription	Pancreas	Pancrea
15	chr2:173500400-173500800	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr2:173500400-173501000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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