Variant report

Variant	nsv977149
Chromosome Location	chr12:41664870-41669233
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 159 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:159 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149705531	chr12:41664922-41664923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs547380873	chr12:41664988-41664989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs565780820	chr12:41664989-41664990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539821631	chr12:41665036-41665037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557921700	chr12:41665037-41665038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs60176278	chr12:41665040-41665041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs76004234	chr12:41665041-41665042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs74491423	chr12:41665081-41665082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556420429	chr12:41665119-41665120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574768012	chr12:41665124-41665125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369640349	chr12:41665178-41665179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12312488	chr12:41665245-41665246	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs554111739	chr12:41665254-41665255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs2116131	chr12:41665279-41665280	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs12312492	chr12:41665293-41665294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545799937	chr12:41665321-41665322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563999097	chr12:41665336-41665337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs78262137	chr12:41665370-41665371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549212347	chr12:41665399-41665400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113125863	chr12:41665453-41665454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs1367607	chr12:41665476-41665477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369797005	chr12:41665493-41665494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561987882	chr12:41665531-41665532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs111869841	chr12:41665596-41665597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529542995	chr12:41665632-41665633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573222513	chr12:41665671-41665672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs566371213	chr12:41665703-41665704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558126261	chr12:41665759-41665760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182809208	chr12:41665789-41665790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs561922645	chr12:41665801-41665802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529079688	chr12:41665842-41665843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs202228130	chr12:41665859-41665860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs35359476	chr12:41665862-41665863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs372905297	chr12:41665863-41665864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188325224	chr12:41665935-41665936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs533028971	chr12:41665971-41665972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374261509	chr12:41665988-41665989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs73120972	chr12:41665998-41665999	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs73120974	chr12:41666001-41666002	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs147402547	chr12:41666010-41666011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs139699987	chr12:41666035-41666036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs555973697	chr12:41666077-41666078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs114617111	chr12:41666083-41666084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192222112	chr12:41666087-41666088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145286327	chr12:41666097-41666098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs543162295	chr12:41666227-41666228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs561448474	chr12:41666263-41666264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs147634617	chr12:41666270-41666271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566377582	chr12:41666271-41666272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574319302	chr12:41666311-41666312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
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
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18194544	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
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Autism	20858243	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Cancer	20164920	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Cancer	20164919	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41661200-41668400	Weak transcription	Colon Smooth Muscle	Colon
2	chr12:41667600-41668800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr12:41667600-41669000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr12:41667800-41668600	Enhancers	Rectal Smooth Muscle	rectum
5	chr12:41668400-41668600	Enhancers	Fetal Kidney	kidney
6	chr12:41668400-41669000	Enhancers	Colon Smooth Muscle	Colon
7	chr12:41668400-41669000	Enhancers	A549	lung
8	chr12:41668400-41669200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr12:41668800-41671000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr12:41669000-41671200	Weak transcription	Colon Smooth Muscle	Colon
11	chr12:41669200-41669600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr12:41669200-41669600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links