Variant report

Variant	rs12470518
Chromosome Location	chr2:50276061-50276062
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10490233	0.89[CEU][hapmap]
rs10490244	0.87[ASN][1000 genomes]
rs11125285	0.81[ASN][1000 genomes]
rs11125291	0.82[YRI][hapmap]
rs11125295	0.85[CHB][hapmap]
rs11125296	0.86[CHB][hapmap]
rs11888330	0.84[CHB][hapmap]
rs11896556	0.81[CHB][hapmap]
rs11897191	0.87[CEU][hapmap]
rs12466807	0.81[CHB][hapmap]
rs12472712	0.81[CHB][hapmap]
rs12472743	0.84[JPT][hapmap]
rs12475100	0.91[CHB][hapmap]
rs12476530	0.91[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs12478603	0.85[CHB][hapmap]
rs12613363	0.95[CHB][hapmap];0.86[JPT][hapmap]
rs1377238	0.80[CHB][hapmap]
rs1421573	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs1452769	0.85[CHB][hapmap]
rs1452771	0.86[CHB][hapmap]
rs1452773	1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1517827	0.88[CEU][hapmap]
rs1563019	0.85[CHB][hapmap]
rs1563028	0.85[CHB][hapmap]
rs17039718	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs17039764	0.95[CHB][hapmap];0.86[JPT][hapmap]
rs17040034	0.95[CHB][hapmap]
rs17040064	0.95[CHB][hapmap]
rs17040090	0.81[CHB][hapmap]
rs17040117	0.80[CHB][hapmap]
rs17040123	0.86[CHB][hapmap]
rs17040138	0.85[CHB][hapmap]
rs17040141	0.85[CHB][hapmap]
rs17040147	0.85[CHB][hapmap]
rs17040160	0.85[CHB][hapmap]
rs17040169	0.85[CHB][hapmap]
rs17040207	0.88[CEU][hapmap]
rs17040210	0.80[CHB][hapmap]
rs1915219	0.88[CEU][hapmap]
rs1915220	0.87[CEU][hapmap]
rs2218979	0.95[CHB][hapmap];0.86[JPT][hapmap]
rs4971552	0.81[JPT][hapmap]
rs4971646	0.86[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs4971652	0.85[CHB][hapmap]
rs4971653	0.86[CHB][hapmap]
rs4971655	0.86[CHB][hapmap]
rs4971656	0.85[CHB][hapmap]
rs4971658	0.86[CHB][hapmap]
rs4971659	0.86[CHB][hapmap]
rs6545149	0.95[CHB][hapmap];0.86[JPT][hapmap]
rs6545155	0.86[CHB][hapmap]
rs6712102	0.81[CHB][hapmap]
rs6712119	0.80[CHB][hapmap]
rs6712423	0.89[CHB][hapmap]
rs6731397	0.95[CHB][hapmap]
rs7599349	0.86[CHB][hapmap]
rs962332	0.87[ASN][1000 genomes]
rs962333	0.87[ASN][1000 genomes]
rs970896	0.85[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3388948	chr2:50092667-50602681	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv3399511	chr2:50092687-50602651	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv934303	chr2:50145598-50412189	Bivalent Enhancer Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:50276000-50277800	Enhancers	Fetal Intestine Large	intestine

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