Variant report

Variant	esv3399228
Chromosome Location	chr12:87452021-87455519
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539752433	chr12:87452088-87452089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs188574786	chr12:87452114-87452115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565562794	chr12:87452133-87452134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534643201	chr12:87452136-87452137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs571900089	chr12:87452210-87452211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs11608474	chr12:87452226-87452227	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs574628254	chr12:87452276-87452277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs11608450	chr12:87452285-87452286	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs534370892	chr12:87452297-87452298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs557198026	chr12:87452319-87452320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs193021494	chr12:87452372-87452373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs372299064	chr12:87452374-87452375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs559624805	chr12:87452396-87452397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs79288418	chr12:87452443-87452444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs77595089	chr12:87452458-87452459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs561843733	chr12:87452479-87452480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs184818988	chr12:87452554-87452555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs550720432	chr12:87452606-87452607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs11610610	chr12:87452614-87452615	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs533649611	chr12:87452646-87452647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs546957365	chr12:87452702-87452703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs373391466	chr12:87452721-87452722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs7969732	chr12:87452755-87452756	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs534317417	chr12:87452808-87452809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs534628430	chr12:87452818-87452819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs17014369	chr12:87452862-87452863	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs568117579	chr12:87452869-87452870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs188547688	chr12:87452874-87452875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs577480153	chr12:87453002-87453003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs149693313	chr12:87453014-87453015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs539650388	chr12:87453029-87453030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs552980455	chr12:87453047-87453048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs72059162	chr12:87453054-87453055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs145439421	chr12:87453175-87453176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs541773609	chr12:87453244-87453245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs561755418	chr12:87453278-87453279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs575298952	chr12:87453280-87453281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs66606466	chr12:87453286-87453287	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs11832379	chr12:87453332-87453333	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs10777020	chr12:87453375-87453376	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs80340762	chr12:87453411-87453412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs79547118	chr12:87453422-87453423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs11612996	chr12:87453428-87453429	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs11104256	chr12:87453470-87453471	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	17550852	CNVD
Melanoma	17363583	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:87449200-87452400	Weak transcription	Fetal Brain Male	brain
2	chr12:87452000-87453600	Enhancers	Fetal Brain Female	brain
3	chr12:87452400-87452800	Enhancers	Fetal Brain Male	brain

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