Variant report

Variant	esv3433117
Chromosome Location	chr12:86367321-86373219
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 84 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532002497	chr12:86369042-86369043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs546988238	chr12:86369049-86369050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs141778537	chr12:86369092-86369093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs550399468	chr12:86369113-86369114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs10506913	chr12:86369119-86369120	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs182157661	chr12:86369213-86369214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs78208243	chr12:86369217-86369218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs569047356	chr12:86369302-86369303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539539344	chr12:86369331-86369332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs558182269	chr12:86369344-86369345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs566555966	chr12:86369379-86369380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs111306281	chr12:86369383-86369384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs533952407	chr12:86369419-86369420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs555394846	chr12:86369421-86369422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs534521566	chr12:86369424-86369425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs573960655	chr12:86369445-86369446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs548008810	chr12:86369446-86369447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs143763063	chr12:86369450-86369451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs148178651	chr12:86369476-86369477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs202150805	chr12:86369509-86369510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs577859851	chr12:86369547-86369548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs544780289	chr12:86369552-86369553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs370906083	chr12:86369554-86369555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs576148256	chr12:86369601-86369602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs528696158	chr12:86369604-86369605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs190400488	chr12:86369634-86369635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs537275904	chr12:86369670-86369671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs34251866	chr12:86369688-86369689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs533569305	chr12:86369705-86369706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs562073987	chr12:86369728-86369729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs721829	chr12:86369784-86369785	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs550604119	chr12:86369847-86369848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs568912897	chr12:86369897-86369898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs533315327	chr12:86369930-86369931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs551597909	chr12:86369946-86369947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs566926836	chr12:86369947-86369948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs10863129	chr12:86369952-86369953	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs537796437	chr12:86369963-86369964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs549143738	chr12:86369986-86369987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs567606122	chr12:86370069-86370070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs543182248	chr12:86370087-86370088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs542142385	chr12:86370179-86370180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs556450915	chr12:86370193-86370194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs577722283	chr12:86370195-86370196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs538596385	chr12:86370255-86370256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs556032382	chr12:86370368-86370369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs142014376	chr12:86370383-86370384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs572087484	chr12:86370389-86370390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs73176276	chr12:86370403-86370404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs553993027	chr12:86370407-86370408	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:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:86369000-86371000	Enhancers	HUVEC	blood vessel
2	chr12:86372800-86375800	Weak transcription	Fetal Heart	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links