Variant report

Variant	rs59118688
Chromosome Location	chr12:44639477-44639478
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10047523	0.83[ASN][1000 genomes]
rs10880622	0.82[ASN][1000 genomes]
rs10880623	0.82[ASN][1000 genomes]
rs10880628	0.83[ASN][1000 genomes]
rs11182430	0.83[ASN][1000 genomes]
rs11182431	0.83[ASN][1000 genomes]
rs11182432	0.83[ASN][1000 genomes]
rs11182442	0.83[ASN][1000 genomes]
rs11182449	0.81[ASN][1000 genomes]
rs11182455	0.87[ASN][1000 genomes]
rs1155808	0.83[ASN][1000 genomes]
rs11615473	0.83[ASN][1000 genomes]
rs11832219	0.87[ASN][1000 genomes]
rs11832859	0.80[ASN][1000 genomes]
rs11835507	0.83[ASN][1000 genomes]
rs12297689	0.83[ASN][1000 genomes]
rs12297754	0.83[ASN][1000 genomes]
rs12297933	0.82[ASN][1000 genomes]
rs12299030	0.87[ASN][1000 genomes]
rs12299937	0.83[ASN][1000 genomes]
rs12300793	0.83[ASN][1000 genomes]
rs12307454	0.83[ASN][1000 genomes]
rs12308449	0.81[ASN][1000 genomes]
rs12308569	0.83[ASN][1000 genomes]
rs12309639	0.87[ASN][1000 genomes]
rs12319009	0.82[ASN][1000 genomes]
rs1643429	0.83[ASN][1000 genomes]
rs1643431	0.87[ASN][1000 genomes]
rs17094183	0.83[ASN][1000 genomes]
rs17094227	0.85[ASN][1000 genomes]
rs17094231	0.82[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs17094235	0.83[ASN][1000 genomes]
rs17094343	0.87[EUR][1000 genomes]
rs17094344	0.83[ASN][1000 genomes]
rs17094356	0.87[EUR][1000 genomes]
rs2112147	0.83[ASN][1000 genomes]
rs2657576	0.83[ASN][1000 genomes]
rs55840982	0.87[EUR][1000 genomes]
rs57851938	0.87[EUR][1000 genomes]
rs57907832	0.83[ASN][1000 genomes]
rs59375742	0.83[ASN][1000 genomes]
rs61690882	0.83[ASN][1000 genomes]
rs66970043	0.82[ASN][1000 genomes]
rs67184817	0.83[ASN][1000 genomes]
rs7137469	0.87[ASN][1000 genomes]
rs7295281	0.96[ASN][1000 genomes]
rs7295832	0.83[ASN][1000 genomes]
rs7297563	0.83[ASN][1000 genomes]
rs7305296	0.87[EUR][1000 genomes]
rs73086766	0.83[EUR][1000 genomes]
rs73100835	0.87[EUR][1000 genomes]
rs73100838	0.87[EUR][1000 genomes]
rs73100851	0.83[EUR][1000 genomes]
rs73102952	0.87[EUR][1000 genomes]
rs73102953	0.83[EUR][1000 genomes]
rs73102954	0.87[EUR][1000 genomes]
rs73102964	0.83[EUR][1000 genomes]
rs7311937	0.87[EUR][1000 genomes]
rs7312930	0.83[ASN][1000 genomes]
rs7313269	0.83[ASN][1000 genomes]
rs7313649	0.87[EUR][1000 genomes]
rs7315208	0.83[ASN][1000 genomes]
rs7316737	0.83[ASN][1000 genomes]
rs73274137	0.81[ASN][1000 genomes]
rs7961974	0.83[ASN][1000 genomes]
rs7969885	0.82[ASN][1000 genomes]
rs7976652	0.87[ASN][1000 genomes]
rs7977482	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049818	chr12:44486312-45133783	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv832393	chr12:44529406-44692414	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44612000-44655600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:44634200-44641800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr12:44635800-44643400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:44639400-44640800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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