Variant report

Variant	esv2008419
Chromosome Location	chr6:162150991-162151804
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548317364	chr6:162150998-162150999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs180994494	chr6:162151033-162151034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201116314	chr6:162151039-162151040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs141611275	chr6:162151041-162151042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546881561	chr6:162151075-162151076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566724198	chr6:162151146-162151147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538857990	chr6:162151176-162151177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558771127	chr6:162151213-162151214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575441401	chr6:162151216-162151217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs34336780	chr6:162151217-162151218	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs554310094	chr6:162151219-162151220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs143622794	chr6:162151220-162151221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs202184589	chr6:162151234-162151235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574385119	chr6:162151301-162151302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs148055852	chr6:162151303-162151304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560437096	chr6:162151323-162151324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577089372	chr6:162151339-162151340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs546019020	chr6:162151413-162151414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562719207	chr6:162151435-162151436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs184426506	chr6:162151454-162151455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs141643571	chr6:162151458-162151459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542297983	chr6:162151523-162151524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561999837	chr6:162151531-162151532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs527688282	chr6:162151538-162151539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112347097	chr6:162151554-162151555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566787397	chr6:162151555-162151556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532428004	chr6:162151556-162151557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552449034	chr6:162151573-162151574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375487241	chr6:162151587-162151588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs368527358	chr6:162151591-162151592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537603726	chr6:162151616-162151617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554654756	chr6:162151628-162151629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150502662	chr6:162151633-162151634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533800417	chr6:162151643-162151644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112660397	chr6:162151645-162151646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs138603196	chr6:162151685-162151686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs114252813	chr6:162151696-162151697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556377702	chr6:162151767-162151768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576587413	chr6:162151786-162151787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542010173	chr6:162151790-162151791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188852965	chr6:162151797-162151798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
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
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
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
Atherosclerosis	21956041	CNVD
Maculopathy	20981449	CNVD
Retinoblastoma	22278416	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Uveal melanoma	20484589	CNVD
Glioblastoma multiforme	19435819	CNVD
Astrocytoma	16205629	CNVD
Parkinson disease	17160897	CNVD
Cancer	20164920	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	20838587	CNVD
Early-onset parkinson disease	21993715	CNVD
Glioblastoma	18772890	CNVD
Pancreatic cancer	20981101	CNVD
Autism	21360662	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Intellectual disability	22102821	CNVD
Parkinson disease	0	CNVD
Bipolar disorder	19114987	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21720365	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:162148800-162153600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr6:162148800-162157600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:162149600-162153800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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