Variant report

Variant	esv2644590
Chromosome Location	chr6:166625425-166626854
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183355092	chr6:166625448-166625449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs549608442	chr6:166625497-166625498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542106885	chr6:166625537-166625538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531996481	chr6:166625545-166625546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs140240427	chr6:166625551-166625552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565657768	chr6:166625611-166625612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs12215524	chr6:166625614-166625615	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs142959732	chr6:166625618-166625619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs12194718	chr6:166625629-166625630	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs537595738	chr6:166625703-166625704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs151123733	chr6:166625862-166625863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577198892	chr6:166625876-166625877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369186339	chr6:166625883-166625884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534732477	chr6:166625997-166625998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs4523067	chr6:166626079-166626080	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs575221481	chr6:166626090-166626091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542495337	chr6:166626132-166626133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs11751176	chr6:166626144-166626145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575739548	chr6:166626153-166626154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs547361781	chr6:166626160-166626161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187794751	chr6:166626225-166626226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570488709	chr6:166626267-166626268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs375260897	chr6:166626337-166626338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs116824280	chr6:166626391-166626392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558881168	chr6:166626438-166626439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs150255681	chr6:166626471-166626472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548073591	chr6:166626506-166626507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569869626	chr6:166626522-166626523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536826398	chr6:166626541-166626542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565570091	chr6:166626626-166626627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs35020127	chr6:166626627-166626628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs35196851	chr6:166626689-166626690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs563180355	chr6:166626690-166626691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs397713165	chr6:166626703-166626704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201688230	chr6:166626704-166626705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552322100	chr6:166626741-166626742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs141598515	chr6:166626767-166626768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371543861	chr6:166626809-166626810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs62441562	chr6:166626823-166626824	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs28813724	chr6:166626844-166626845	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:81)

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
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
Glioblastoma multiforme	19435819	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Epilepsy	22083797	CNVD
Myelofibrosis	22110671	CNVD
chordoma	19801981	CNVD
Myxofibrosarcoma	16751306	CNVD
Autism	17483303	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute myeloid leukemia	19651601	CNVD
Sudden cardiac death	19188705	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:166619000-166633200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:166622000-166629400	Weak transcription	Dnd41	blood

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