Variant report

Variant	esv3397140
Chromosome Location	chr12:59370832-59371313
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370815717	chr12:59370871-59370872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs780139	chr12:59370874-59370875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11172852	chr12:59370892-59370893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs11172853	chr12:59370894-59370895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs566234976	chr12:59370933-59370934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186976195	chr12:59370934-59370935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201214972	chr12:59370946-59370947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533542306	chr12:59370952-59370953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554988196	chr12:59370958-59370959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs376241905	chr12:59370974-59370975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201822191	chr12:59371030-59371031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574778976	chr12:59371040-59371041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535797841	chr12:59371069-59371070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557654067	chr12:59371071-59371072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs199866924	chr12:59371093-59371094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571693171	chr12:59371111-59371112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143757530	chr12:59371120-59371121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2595736	chr12:59371206-59371207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs139309108	chr12:59371239-59371240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200753917	chr12:59371242-59371243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11172854	chr12:59371243-59371244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs377676414	chr12:59371244-59371245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs59251861	chr12:59371266-59371267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191867223	chr12:59371273-59371274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs2595735	chr12:59371281-59371282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Thoracic aortic aneurysm	21092924	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
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Urothelial cell carcinoma	18451213	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	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
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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:59370200-59373400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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