Variant report

Variant	nsv53083
Chromosome Location	chr12:62335221-62341282
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 110 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:110 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564932563	chr12:62335258-62335259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs543952727	chr12:62335270-62335271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545361877	chr12:62335275-62335276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs12309121	chr12:62335280-62335281	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs572560319	chr12:62335283-62335284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs370824855	chr12:62335294-62335295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs576230801	chr12:62335303-62335304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189953906	chr12:62335324-62335325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544863538	chr12:62335351-62335352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541896662	chr12:62335364-62335365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565048544	chr12:62335375-62335376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs851915	chr12:62335376-62335377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540897670	chr12:62335382-62335383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560565798	chr12:62335386-62335387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs529626766	chr12:62335402-62335403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549493439	chr12:62335403-62335404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs569648960	chr12:62335408-62335409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs12309224	chr12:62335426-62335427	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs7316736	chr12:62335427-62335428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371312153	chr12:62335452-62335453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544512832	chr12:62335463-62335464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs851916	chr12:62335490-62335491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555269389	chr12:62335493-62335494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568503538	chr12:62335505-62335506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537423154	chr12:62335527-62335528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557466770	chr12:62335548-62335549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577272303	chr12:62335551-62335552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546230310	chr12:62335558-62335559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558492036	chr12:62335570-62335571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs199571656	chr12:62335572-62335573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540960688	chr12:62335600-62335601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560827093	chr12:62335603-62335604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12316537	chr12:62335651-62335652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543005462	chr12:62335792-62335793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374797906	chr12:62335811-62335812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs851917	chr12:62335817-62335818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563256150	chr12:62335892-62335893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs532112798	chr12:62335893-62335894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372217028	chr12:62335955-62335956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376802032	chr12:62335976-62335977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369534485	chr12:62336069-62336070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs552223189	chr12:62336122-62336123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201695836	chr12:62336197-62336198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376839835	chr12:62336215-62336216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369021099	chr12:62336216-62336217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs567907004	chr12:62336372-62336373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs11174245	chr12:62336398-62336399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376057178	chr12:62336455-62336456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs11174246	chr12:62336460-62336461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373362116	chr12:62336486-62336487	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:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62334600-62343000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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