Variant report

Variant	nsv976634
Chromosome Location	chr12:62273193-62275391
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 104 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:104 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559753971	chr12:62273217-62273218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187406203	chr12:62273218-62273219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191821355	chr12:62273222-62273223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs7308172	chr12:62273224-62273225	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs11174211	chr12:62273246-62273247	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs551711695	chr12:62273249-62273250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs534243014	chr12:62273273-62273274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528001101	chr12:62273274-62273275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs548101015	chr12:62273275-62273276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182906600	chr12:62273301-62273302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs34447291	chr12:62273338-62273339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs386763588	chr12:62273341-62273342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs374676172	chr12:62273342-62273343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs370239578	chr12:62273344-62273345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375030689	chr12:62273354-62273355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553964207	chr12:62273403-62273404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570073001	chr12:62273428-62273429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539073479	chr12:62273451-62273452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557676136	chr12:62273457-62273458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577402951	chr12:62273544-62273545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540180162	chr12:62273545-62273546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553630818	chr12:62273672-62273673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573339740	chr12:62273691-62273692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528512823	chr12:62273751-62273752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs2359977	chr12:62273829-62273830	Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs367702519	chr12:62273842-62273843	Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs562479092	chr12:62273844-62273845	Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs531311590	chr12:62273875-62273876	Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs545048626	chr12:62273882-62273883	Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs565520057	chr12:62273913-62273914	Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs527885909	chr12:62273914-62273915	Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs548142974	chr12:62273917-62273918	Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs561583398	chr12:62273929-62273930	Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs530390211	chr12:62273932-62273933	Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs549909511	chr12:62273971-62273972	Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs114820159	chr12:62273991-62273992	Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs7311923	chr12:62274027-62274028	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs552634253	chr12:62274095-62274096	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571134780	chr12:62274096-62274097	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533725708	chr12:62274097-62274098	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182609789	chr12:62274124-62274125	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573622011	chr12:62274125-62274126	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7312265	chr12:62274132-62274133	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs555896523	chr12:62274138-62274139	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7311950	chr12:62274139-62274140	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs575157787	chr12:62274155-62274156	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544824327	chr12:62274160-62274161	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs114695353	chr12:62274192-62274193	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572136886	chr12:62274217-62274218	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs544125335	chr12:62274218-62274219	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	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
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Metanephric adenoma	20802469	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	20080666	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	17133270	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Glioblastoma	17090523	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Breast cancer	21364760	CNVD
Man infertility	21397064	CNVD
Mental retardation	17220210	CNVD
Osteopoikilosis	17220210	CNVD
short stature	17220210	CNVD
Burkitt''s lymphoma	20823134	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	21346763	CNVD
Breast cancer	20369283	CNVD
Schizophrenia	20967226	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62266000-62273800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr12:62266200-62273800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr12:62273800-62274000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr12:62273800-62274400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr12:62274000-62274200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr12:62274200-62282000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr12:62274400-62275800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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