Variant report

Variant	rs1893630
Chromosome Location	chr11:58598691-58598692
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 149 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:138)

rs_ID	r²[population]
rs10501373	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10750905	0.95[EUR][1000 genomes]
rs10792188	0.95[EUR][1000 genomes]
rs10792189	0.95[EUR][1000 genomes]
rs10792203	0.95[EUR][1000 genomes]
rs10896831	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10896846	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10896855	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11229621	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11229624	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11229647	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11229660	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11229665	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11229669	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11229675	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11229681	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11229685	0.81[AMR][1000 genomes]
rs12365539	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12576002	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1938700	1.00[AMR][1000 genomes]
rs1938706	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1938710	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1938712	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1938720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1938721	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1938726	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1938727	0.90[AMR][1000 genomes]
rs1943275	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1943286	0.95[EUR][1000 genomes]
rs1943287	0.95[EUR][1000 genomes]
rs1943288	0.95[EUR][1000 genomes]
rs1943289	0.90[EUR][1000 genomes]
rs1943290	0.95[EUR][1000 genomes]
rs1943291	0.95[EUR][1000 genomes]
rs1943292	0.95[EUR][1000 genomes]
rs1943293	0.95[EUR][1000 genomes]
rs1943294	0.95[EUR][1000 genomes]
rs1943295	0.95[EUR][1000 genomes]
rs1943296	0.95[EUR][1000 genomes]
rs1943297	0.95[EUR][1000 genomes]
rs1943298	0.95[EUR][1000 genomes]
rs1943300	0.95[EUR][1000 genomes]
rs1943301	0.90[EUR][1000 genomes]
rs1943306	0.95[EUR][1000 genomes]
rs2156348	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2156351	0.95[EUR][1000 genomes]
rs2212844	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2212850	0.95[EUR][1000 genomes]
rs2226794	0.95[EUR][1000 genomes]
rs2497369	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2507835	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2849853	0.95[EUR][1000 genomes]
rs2849854	0.95[EUR][1000 genomes]
rs2856259	0.95[EUR][1000 genomes]
rs3020908	0.95[EUR][1000 genomes]
rs3020909	0.95[EUR][1000 genomes]
rs34745169	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4103678	0.95[EUR][1000 genomes]
rs4554906	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs490828	0.95[EUR][1000 genomes]
rs492802	0.95[EUR][1000 genomes]
rs493659	0.95[EUR][1000 genomes]
rs4939237	0.95[EUR][1000 genomes]
rs494174	1.00[AMR][1000 genomes]
rs496601	0.95[EUR][1000 genomes]
rs497348	0.95[EUR][1000 genomes]
rs499891	0.90[AMR][1000 genomes]
rs511857	1.00[AMR][1000 genomes]
rs512832	0.95[EUR][1000 genomes]
rs513590	0.95[EUR][1000 genomes]
rs518089	0.95[EUR][1000 genomes]
rs519043	0.95[EUR][1000 genomes]
rs519256	0.95[EUR][1000 genomes]
rs519310	0.95[EUR][1000 genomes]
rs520075	1.00[AMR][1000 genomes]
rs521781	0.85[EUR][1000 genomes]
rs524689	0.90[EUR][1000 genomes]
rs526640	0.90[EUR][1000 genomes]
rs529734	0.90[EUR][1000 genomes]
rs531737	0.90[EUR][1000 genomes]
rs535234	0.95[EUR][1000 genomes]
rs537098	0.95[EUR][1000 genomes]
rs539085	1.00[AMR][1000 genomes]
rs540592	1.00[AMR][1000 genomes]
rs542683	1.00[AMR][1000 genomes]
rs545803	0.95[EUR][1000 genomes]
rs547469	0.95[EUR][1000 genomes]
rs547540	0.95[EUR][1000 genomes]
rs549519	0.95[EUR][1000 genomes]
rs552887	0.95[EUR][1000 genomes]
rs557895	0.82[EUR][1000 genomes]
rs558013	0.90[EUR][1000 genomes]
rs558099	0.95[EUR][1000 genomes]
rs558146	0.95[EUR][1000 genomes]
rs558403	0.95[EUR][1000 genomes]
rs561676	0.95[EUR][1000 genomes]
rs563687	0.95[EUR][1000 genomes]
rs564570	0.95[EUR][1000 genomes]
rs567460	0.95[EUR][1000 genomes]
rs574497	0.95[EUR][1000 genomes]
rs576050	0.95[EUR][1000 genomes]
rs587953	0.95[EUR][1000 genomes]
rs591856	0.95[EUR][1000 genomes]
rs592308	0.95[EUR][1000 genomes]
rs598767	0.95[EUR][1000 genomes]
rs599254	0.95[EUR][1000 genomes]
rs600215	0.95[EUR][1000 genomes]
rs600559	0.95[EUR][1000 genomes]
rs608998	1.00[AMR][1000 genomes]
rs610165	1.00[AMR][1000 genomes]
rs611013	0.90[AMR][1000 genomes]
rs614365	0.95[EUR][1000 genomes]
rs615237	0.95[EUR][1000 genomes]
rs615701	1.00[AMR][1000 genomes]
rs621584	0.90[EUR][1000 genomes]
rs622512	0.95[EUR][1000 genomes]
rs625951	1.00[AMR][1000 genomes]
rs628312	0.95[EUR][1000 genomes]
rs630551	0.95[EUR][1000 genomes]
rs631452	0.95[EUR][1000 genomes]
rs635588	0.95[EUR][1000 genomes]
rs642957	0.95[EUR][1000 genomes]
rs643881	0.95[EUR][1000 genomes]
rs644312	0.95[EUR][1000 genomes]
rs657792	0.95[EUR][1000 genomes]
rs660503	1.00[AMR][1000 genomes]
rs665148	0.90[EUR][1000 genomes]
rs666476	1.00[AMR][1000 genomes]
rs667889	0.82[EUR][1000 genomes]
rs668254	0.90[EUR][1000 genomes]
rs675815	1.00[AMR][1000 genomes]
rs678346	0.95[EUR][1000 genomes]
rs678880	0.95[EUR][1000 genomes]
rs679551	0.90[EUR][1000 genomes]
rs680053	0.90[EUR][1000 genomes]
rs680976	0.90[EUR][1000 genomes]
rs682357	0.95[EUR][1000 genomes]
rs682780	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050013	chr11:58394598-59221090	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv948365	chr11:58515163-59156405	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv1048605	chr11:58534660-58672438	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv1045858	chr11:58547772-58674568	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1052173	chr11:58553516-58678496	Enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv523481	chr11:58553771-58632368	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv525355	chr11:58553771-58632368	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv555103	chr11:58591863-58600210	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv555108	chr11:58594559-58600210	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv555115	chr11:58595363-58600210	Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv1827788	chr11:58595883-58636405	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:58596800-58604200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr11:58597800-58599000	Weak transcription	NHEK	skin
3	chr11:58597800-58599400	Weak transcription	HMEC	breast
4	chr11:58598000-58599000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:58598000-58599600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr11:58598600-58599400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr11:58598600-58599800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr11:58598600-58600200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr11:58598600-58601200	Weak transcription	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links