Variant report

Variant	rs4762781
Chromosome Location	chr12:20928472-20928473
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 150 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:143)

rs_ID	r²[population]
rs1002441	0.90[ASN][1000 genomes]
rs10444412	0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[ASN][1000 genomes]
rs10505869	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10770715	1.00[JPT][hapmap]
rs10841604	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs10841605	1.00[JPT][hapmap]
rs10841606	0.80[ASN][1000 genomes]
rs10841607	0.80[ASN][1000 genomes]
rs10841608	0.80[ASN][1000 genomes]
rs10841609	0.80[ASN][1000 genomes]
rs10841610	0.80[ASN][1000 genomes]
rs10841611	0.83[ASN][1000 genomes]
rs10841612	0.83[ASN][1000 genomes]
rs10841613	0.83[ASN][1000 genomes]
rs10841614	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10841615	0.92[ASN][1000 genomes]
rs10841616	0.92[ASN][1000 genomes]
rs10841617	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10841627	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10841642	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10841644	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10841645	0.90[EUR][1000 genomes]
rs10841648	0.88[EUR][1000 genomes]
rs11045422	1.00[JPT][hapmap]
rs11045428	1.00[JPT][hapmap]
rs11045435	0.80[ASN][1000 genomes]
rs11045437	0.80[ASN][1000 genomes]
rs11045439	0.84[ASN][1000 genomes]
rs11045440	0.84[ASN][1000 genomes]
rs11045441	0.90[ASN][1000 genomes]
rs11045446	0.92[ASN][1000 genomes]
rs11045447	0.92[ASN][1000 genomes]
rs11045448	0.92[ASN][1000 genomes]
rs11045455	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11045458	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11045459	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11045460	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11045477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11045497	0.94[ASN][1000 genomes]
rs11045500	0.86[EUR][1000 genomes]
rs11045501	0.87[ASN][1000 genomes]
rs11045503	0.91[ASN][1000 genomes]
rs11045505	0.90[EUR][1000 genomes]
rs11494694	0.98[ASN][1000 genomes]
rs11519054	0.98[ASN][1000 genomes]
rs11519245	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11525531	0.97[EUR][1000 genomes]
rs12313384	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12368841	1.00[JPT][hapmap]
rs12371796	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs12371798	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs12423980	0.86[ASN][1000 genomes]
rs12818167	0.94[ASN][1000 genomes]
rs12818525	0.95[ASN][1000 genomes]
rs12819311	0.85[ASN][1000 genomes]
rs12821686	0.92[ASN][1000 genomes]
rs12823467	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1356147	1.00[JPT][hapmap]
rs1399932	0.88[ASN][1000 genomes]
rs1515764	1.00[JPT][hapmap]
rs1515765	1.00[JPT][hapmap]
rs1554145	0.80[ASN][1000 genomes]
rs1554146	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs1554147	0.80[ASN][1000 genomes]
rs1554148	0.80[ASN][1000 genomes]
rs1554149	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs1554151	1.00[JPT][hapmap]
rs1588918	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1588919	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1588920	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1829008	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1829009	0.98[ASN][1000 genomes]
rs2090272	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2090274	0.93[EUR][1000 genomes]
rs2090275	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2090276	0.94[EUR][1000 genomes]
rs2099368	0.94[ASN][1000 genomes]
rs2102737	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2138332	1.00[JPT][hapmap]
rs2271656	1.00[JPT][hapmap]
rs2417859	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2417864	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs2900456	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35508637	0.93[ASN][1000 genomes]
rs35811140	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35962288	0.83[ASN][1000 genomes]
rs4141475	0.90[EUR][1000 genomes]
rs4293173	0.81[ASN][1000 genomes]
rs4340099	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4360745	0.81[AFR][1000 genomes]
rs4379890	0.83[EUR][1000 genomes]
rs4411320	0.81[AFR][1000 genomes]
rs4468396	0.80[ASN][1000 genomes]
rs4531518	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs4581503	0.80[ASN][1000 genomes]
rs4762670	0.84[ASN][1000 genomes]
rs4762772	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs4762773	0.83[ASN][1000 genomes]
rs4762774	0.84[ASN][1000 genomes]
rs4762776	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4762777	0.91[ASN][1000 genomes]
rs4762778	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4762779	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4762780	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4762784	0.94[ASN][1000 genomes]
rs4762785	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4762786	0.90[EUR][1000 genomes]
rs61921585	0.93[ASN][1000 genomes]
rs6487137	0.80[ASN][1000 genomes]
rs6487138	0.83[ASN][1000 genomes]
rs6487139	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6487140	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7137980	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs7294687	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7295297	0.94[ASN][1000 genomes]
rs7295794	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7297868	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7299977	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7300887	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7309696	0.90[EUR][1000 genomes]
rs7311073	1.00[JPT][hapmap]
rs7311098	1.00[JPT][hapmap]
rs7311295	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7311533	1.00[JPT][hapmap]
rs7315732	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7964850	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7965380	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7967660	0.90[ASN][1000 genomes]
rs7968058	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7969555	0.80[ASN][1000 genomes]
rs7980075	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7980844	0.80[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs953001	0.85[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.83[ASN][1000 genomes]
rs953002	0.81[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[ASN][1000 genomes]
rs957164	0.92[ASN][1000 genomes]
rs9669084	0.96[ASN][1000 genomes]
rs972505	0.81[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs972506	0.82[ASN][1000 genomes]
rs972507	0.81[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs974039	0.82[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.83[ASN][1000 genomes]
rs974040	0.83[ASN][1000 genomes]
rs974041	0.83[ASN][1000 genomes]
rs9795878	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043890	chr12:20659151-21309993	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv541410	chr12:20659151-21309993	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1054997	chr12:20682009-21292602	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv1039951	chr12:20880417-20941238	Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv17347	chr12:20892854-21029179	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv1051454	chr12:20893994-20999635	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv1040033	chr12:20914439-21078855	Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	4 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	chr12:20922400-20929200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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