Variant report

Variant	rs12805337
Chromosome Location	chr11:4814850-4814851
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	11:4801044-4820112..11:5700314-5707362	H1-hESC	embryonic stem cell:	embryo
2	chr11:4789671..4792092-chr11:4812812..4815235,2	K562	blood:

Variant related genes	Relation type
ENSG00000188069	Chromatin interaction
ENSG00000132256	Chromatin interaction

Extended variants
information (count: 114 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs10768241	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10768242	1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10768244	0.90[ASN][1000 genomes]
rs10836651	1.00[JPT][hapmap]
rs10836652	0.90[ASN][1000 genomes]
rs10836653	1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10836654	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10836672	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10836677	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11033914	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11033918	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11034114	0.82[MEX][hapmap];0.85[TSI][hapmap]
rs11600780	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11601153	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11607628	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11822216	0.91[CEU][hapmap];0.81[MEX][hapmap];0.83[TSI][hapmap];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12284164	1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12785245	0.81[CEU][hapmap]
rs12787156	0.90[ASN][1000 genomes]
rs12787163	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12788159	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12795212	0.81[CEU][hapmap]
rs1347271	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1347272	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1368816	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1368825	0.83[AMR][1000 genomes]
rs1368830	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1433901	0.94[ASW][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1433902	1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1433903	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1433907	0.90[ASN][1000 genomes]
rs1433908	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1433911	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1433912	1.00[JPT][hapmap]
rs1433919	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1433920	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1433921	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1433922	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1433923	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1433924	1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1433926	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1469751	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1541946	0.83[CEU][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap]
rs16906303	1.00[ASN][1000 genomes]
rs17228176	0.83[CEU][hapmap]
rs17228183	0.83[CEU][hapmap]
rs17228218	0.83[CEU][hapmap]
rs17228295	1.00[ASN][1000 genomes]
rs1865282	0.83[CEU][hapmap];0.82[TSI][hapmap]
rs1865284	0.91[CEU][hapmap]
rs1865285	0.82[ASN][1000 genomes]
rs1991887	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1991888	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1991889	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2053116	1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2053117	0.94[ASW][hapmap];1.00[CHD][hapmap];0.95[LWK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2117211	1.00[ASN][1000 genomes]
rs2412430	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2412435	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs36098183	0.90[ASN][1000 genomes]
rs41520952	1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4382897	1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4910527	0.90[ASN][1000 genomes]
rs4910528	0.89[ASN][1000 genomes]
rs4910681	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4910682	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4910683	0.90[ASN][1000 genomes]
rs4910684	0.91[CEU][hapmap]
rs4910689	0.82[MEX][hapmap];0.80[TSI][hapmap]
rs5005347	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs5005348	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs5005349	0.90[ASN][1000 genomes]
rs6578528	0.90[ASN][1000 genomes]
rs6578529	0.90[ASN][1000 genomes]
rs6578530	0.90[ASN][1000 genomes]
rs6578531	1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6578532	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6578533	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs72868750	0.90[ASN][1000 genomes]
rs7930228	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7933099	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7933109	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7933423	0.82[ASN][1000 genomes]
rs7934332	0.82[MEX][hapmap];0.80[TSI][hapmap];0.83[AMR][1000 genomes]
rs7938153	0.90[ASN][1000 genomes]
rs7940131	1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7941731	1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7948040	0.82[CEU][hapmap]
rs7950667	0.90[ASN][1000 genomes]
rs7951201	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7952317	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043803	chr11:4388448-4837042	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
2	nsv540916	chr11:4388448-4837042	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv1048224	chr11:4390227-4920324	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
4	nsv540917	chr11:4390227-4920324	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
5	esv3424302	chr11:4585155-4880050	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
6	nsv1054847	chr11:4642875-5200656	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
7	nsv896915	chr11:4659419-4844393	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
8	nsv832056	chr11:4673001-4824890	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
9	esv1806557	chr11:4778433-4820481	Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	esv1809118	chr11:4782207-4843426	Enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	esv2760633	chr11:4803980-4910384	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
12	nsv1035355	chr11:4805922-4907672	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
13	nsv1039703	chr11:4806669-4910372	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
14	nsv553176	chr11:4806706-4909000	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
15	nsv553177	chr11:4806872-4871506	Enhancers Bivalent/Poised TSS Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
16	nsv553178	chr11:4806872-4909000	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
17	nsv553179	chr11:4806872-4910224	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
18	nsv1045537	chr11:4807304-4904064	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
19	nsv467665	chr11:4808227-4871481	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
20	nsv553180	chr11:4808227-4871481	Enhancers Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
21	nsv553181	chr11:4811933-4910224	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
22	esv19187	chr11:4813583-4820635	Enhancers ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
23	nsv553182	chr11:4814850-4909000	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs12805337	TSPAN32	cis	cerebellum	SCAN
rs12805337	MUC2	cis	parietal	SCAN
rs12805337	OR52E8	cis	cerebellum	SCAN
rs12805337	RPL27A	cis	cerebellum	SCAN
rs12805337	OR52B2	cis	cerebellum	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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