Variant report

Variant	nsv8927
Chromosome Location	chr12:21029726-21030949
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183253830	chr12:21029756-21029757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs186617145	chr12:21029763-21029764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568686579	chr12:21029771-21029772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs75341387	chr12:21029782-21029783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs75145256	chr12:21029783-21029784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs534814349	chr12:21029785-21029786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs557942890	chr12:21029824-21029825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs373100466	chr12:21029851-21029852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539032743	chr12:21029878-21029879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543121333	chr12:21029890-21029891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs377662127	chr12:21029906-21029907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs10841690	chr12:21029922-21029923	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs554448847	chr12:21029925-21029926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373791119	chr12:21029926-21029927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577475058	chr12:21029946-21029947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149750161	chr12:21029954-21029955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs147654565	chr12:21029965-21029966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs10841691	chr12:21030014-21030015	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs530935415	chr12:21030031-21030032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576004642	chr12:21030044-21030045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs144656791	chr12:21030045-21030046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs147901931	chr12:21030046-21030047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs373142343	chr12:21030062-21030063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs115881697	chr12:21030087-21030088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546926271	chr12:21030092-21030093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565988110	chr12:21030113-21030114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs148962117	chr12:21030132-21030133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191065639	chr12:21030155-21030156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs56084655	chr12:21030183-21030184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs35174906	chr12:21030184-21030185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs397743280	chr12:21030190-21030191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201384169	chr12:21030191-21030192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs4149132	chr12:21030202-21030203	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs143754644	chr12:21030203-21030204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556816846	chr12:21030215-21030216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs148144300	chr12:21030227-21030228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs71583728	chr12:21030384-21030385	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs563940444	chr12:21030392-21030393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200152290	chr12:21030410-21030411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs4149133	chr12:21030411-21030412	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs4149134	chr12:21030454-21030455	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs551517266	chr12:21030456-21030457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs140143437	chr12:21030476-21030477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530955699	chr12:21030566-21030567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs386761023	chr12:21030582-21030583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs4149136	chr12:21030584-21030585	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs4149137	chr12:21030590-21030591	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs4149138	chr12:21030630-21030631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs150297966	chr12:21030650-21030651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs4149139	chr12:21030672-21030673	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	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
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	16397240	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21364760	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	23813976	CNVD
Schizophrenia	21346763	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21028400-21035800	Weak transcription	A549	lung
2	chr12:21029600-21032400	Weak transcription	Liver	Liver

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