Variant report

Variant	rs17040210
Chromosome Location	chr2:50434741-50434742
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 92 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10490233	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10490241	0.84[CEU][hapmap]
rs11125295	0.85[CHB][hapmap];0.85[CHD][hapmap];0.86[JPT][hapmap];0.83[MEX][hapmap]
rs11125296	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs11888330	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs11896556	0.90[CHB][hapmap];0.91[JPT][hapmap]
rs11900502	0.92[ASN][1000 genomes]
rs12466807	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[ASN][1000 genomes]
rs12470002	0.84[CEU][hapmap]
rs12470518	0.80[CHB][hapmap]
rs12472712	0.84[CEU][hapmap]
rs12473119	0.84[CEU][hapmap]
rs12475100	0.80[CHB][hapmap];0.91[JPT][hapmap]
rs12476530	0.84[CEU][hapmap]
rs12476825	0.86[CEU][hapmap]
rs12477934	0.84[CEU][hapmap]
rs12478603	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12613363	0.84[CEU][hapmap]
rs12622858	0.82[MEX][hapmap]
rs12986904	0.84[CEU][hapmap]
rs1377233	0.84[CEU][hapmap]
rs1377237	0.82[CEU][hapmap]
rs1377238	0.90[CHB][hapmap];0.92[CHD][hapmap];0.86[JPT][hapmap];0.83[MEX][hapmap]
rs1402166	0.88[CHD][hapmap]
rs1452769	0.87[MEX][hapmap]
rs1452771	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs1452773	0.84[CHB][hapmap]
rs1452778	0.84[CEU][hapmap]
rs1452779	0.84[CEU][hapmap]
rs1452781	0.82[CEU][hapmap]
rs1452783	0.84[CEU][hapmap]
rs1563019	0.95[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap]
rs1563024	0.84[CEU][hapmap]
rs1563026	0.84[CEU][hapmap]
rs1563027	0.84[CEU][hapmap]
rs1563028	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs17039764	0.84[CEU][hapmap]
rs17039801	0.84[CEU][hapmap]
rs17039807	0.84[CEU][hapmap]
rs17040034	0.91[JPT][hapmap]
rs17040064	0.82[JPT][hapmap]
rs17040090	0.80[CHB][hapmap]
rs17040117	0.90[CHB][hapmap];0.93[CHD][hapmap];0.91[JPT][hapmap];0.87[MEX][hapmap]
rs17040123	0.95[CHB][hapmap];0.91[JPT][hapmap]
rs17040138	0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs17040141	0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.94[ASN][1000 genomes]
rs17040147	0.95[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.87[MEX][hapmap];0.81[MKK][hapmap];0.93[YRI][hapmap];0.93[ASN][1000 genomes]
rs17040160	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.92[ASN][1000 genomes]
rs17040169	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[ASN][1000 genomes]
rs17040207	0.91[JPT][hapmap]
rs17040212	0.82[CHB][hapmap];0.82[ASN][1000 genomes]
rs17040235	0.82[CHD][hapmap];1.00[JPT][hapmap]
rs1915227	0.85[CHD][hapmap]
rs1961358	0.84[CEU][hapmap]
rs2045003	0.84[CEU][hapmap]
rs2123388	0.84[CEU][hapmap]
rs2176872	0.90[ASN][1000 genomes]
rs2218979	0.84[CEU][hapmap]
rs4641977	0.84[CEU][hapmap]
rs4971646	0.84[CEU][hapmap]
rs4971652	0.85[CHB][hapmap];0.81[CHD][hapmap];0.86[JPT][hapmap];0.83[MEX][hapmap]
rs4971653	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs4971654	0.86[ASN][1000 genomes]
rs4971655	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs4971656	0.95[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap]
rs4971658	0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs4971659	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs4971661	0.92[ASN][1000 genomes]
rs6545149	0.84[CEU][hapmap]
rs6545155	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs6712102	0.90[CHB][hapmap];0.91[JPT][hapmap]
rs6712119	0.90[CHB][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap];0.82[MEX][hapmap]
rs6712423	0.94[CHB][hapmap];0.90[JPT][hapmap]
rs6731397	0.82[JPT][hapmap]
rs7599349	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs930752	0.84[CEU][hapmap]
rs962332	0.93[CEU][hapmap]
rs970896	0.84[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:14 , 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	nsv932915	chr2:50306630-50628415	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	esv2756107	chr2:50307245-50440043	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv948833	chr2:50307245-50459077	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1002344	chr2:50326207-50518933	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv535692	chr2:50326207-50518933	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv492164	chr2:50399251-51029090	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv581839	chr2:50409803-50438701	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	inside rSNPs	diseases
10	nsv1000653	chr2:50417660-51083470	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv535693	chr2:50417660-51083470	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv470459	chr2:50431752-50514027	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv581840	chr2:50432463-50450879	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
14	nsv874032	chr2:50434741-50449138	Enhancers	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17040210	ATP6V1E2	cis	parietal	SCAN

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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