Variant report

Variant	esv3497664
Chromosome Location	chr12:86292872-86294406
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 63 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112885126	chr12:86292876-86292877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs572219045	chr12:86292911-86292912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs188611853	chr12:86293047-86293048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs61930923	chr12:86293095-86293096	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs531501642	chr12:86293097-86293098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs61930924	chr12:86293111-86293112	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs564907430	chr12:86293120-86293121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs192215556	chr12:86293128-86293129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547491641	chr12:86293164-86293165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs200488104	chr12:86293208-86293209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs74927885	chr12:86293214-86293215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs2405626	chr12:86293291-86293292	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs538407262	chr12:86293316-86293317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs549594944	chr12:86293317-86293318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs567999866	chr12:86293321-86293322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs184600679	chr12:86293362-86293363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs556531085	chr12:86293371-86293372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs371765299	chr12:86293418-86293419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs560081961	chr12:86293440-86293441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs151282028	chr12:86293456-86293457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs572429461	chr12:86293461-86293462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs10506915	chr12:86293468-86293469	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs554724533	chr12:86293505-86293506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs554335551	chr12:86293559-86293560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs575792933	chr12:86293561-86293562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs543317557	chr12:86293596-86293597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs565006836	chr12:86293617-86293618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs573301504	chr12:86293649-86293650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs2897186	chr12:86293716-86293717	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs201785570	chr12:86293776-86293777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs144885068	chr12:86293777-86293778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs369030360	chr12:86293778-86293779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs34810760	chr12:86293789-86293790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs116965669	chr12:86293828-86293829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs61930925	chr12:86293873-86293874	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs61930926	chr12:86293948-86293949	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs548266106	chr12:86293963-86293964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs570005643	chr12:86293981-86293982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs375401799	chr12:86293993-86293994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs561467434	chr12:86294026-86294027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs59817832	chr12:86294033-86294034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs116836342	chr12:86294056-86294057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs7134573	chr12:86294069-86294070	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs539054779	chr12:86294106-86294107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs547474166	chr12:86294114-86294115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs565878698	chr12:86294145-86294146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs11117089	chr12:86294163-86294164	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs7133797	chr12:86294184-86294185	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs368590148	chr12:86294193-86294194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs190330629	chr12:86294196-86294197	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Malignant peripheral nerve sheath tumor	18522746	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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:86290600-86293200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr12:86292800-86294200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:86293200-86293600	Enhancers	ES-I3 Cell Line	embryonic stem cell

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