Variant report

Variant	esv3332299
Chromosome Location	chr6:150425688-150426131
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:150409275..150411139-chr6:150425128..150427756,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184595648	chr6:150425713-150425714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs11757281	chr6:150425729-150425730	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs568911894	chr6:150425732-150425733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs9479684	chr6:150425779-150425780	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs189357828	chr6:150425784-150425785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs150430517	chr6:150425809-150425810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs557914542	chr6:150425812-150425813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556895926	chr6:150425813-150425814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182011755	chr6:150425835-150425836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183729249	chr6:150425845-150425846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs11752667	chr6:150425864-150425865	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs560532141	chr6:150425886-150425887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529307274	chr6:150425887-150425888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs111261354	chr6:150425892-150425893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576766119	chr6:150425908-150425909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563148577	chr6:150425938-150425939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200307669	chr6:150425954-150425955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532061270	chr6:150425979-150425980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs146051841	chr6:150426047-150426048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571793718	chr6:150426061-150426062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs527370814	chr6:150426062-150426063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs28608080	chr6:150426081-150426082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs139986276	chr6:150426114-150426115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Autism	22495311	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
Cancer	17160897	CNVD
Breast cancer	17417639	CNVD
Breast cancer	17850661	CNVD
Renal cell carcinoma	18765545	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20556506	CNVD
Hirschsprung''s Disease	21712996	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150422400-150436800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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