Variant report

Variant	esv3339838
Chromosome Location	chr6:68913681-68914879
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553086387	chr6:68913734-68913735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs192670579	chr6:68913756-68913757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs183183998	chr6:68913757-68913758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537658129	chr6:68913763-68913764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs79194561	chr6:68913780-68913781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs73452730	chr6:68913869-68913870	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs142131806	chr6:68913905-68913906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553366093	chr6:68913913-68913914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs73452733	chr6:68913947-68913948	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs146148605	chr6:68914006-68914007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200866677	chr6:68914021-68914022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs70983893	chr6:68914023-68914024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201166005	chr6:68914025-68914026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200509043	chr6:68914027-68914028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs61610105	chr6:68914029-68914030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562058123	chr6:68914047-68914048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530987109	chr6:68914058-68914059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs150762454	chr6:68914079-68914080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs377727481	chr6:68914145-68914146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs149220080	chr6:68914195-68914196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540660036	chr6:68914203-68914204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12204606	chr6:68914223-68914224	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs1840498	chr6:68914236-68914237	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs547301231	chr6:68914303-68914304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564085121	chr6:68914323-68914324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs576176011	chr6:68914338-68914339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs566493421	chr6:68914342-68914343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs528904972	chr6:68914351-68914352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548922070	chr6:68914355-68914356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs139686135	chr6:68914406-68914407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563756410	chr6:68914440-68914441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs537542289	chr6:68914502-68914503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557569346	chr6:68914504-68914505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571094874	chr6:68914544-68914545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs72908184	chr6:68914554-68914555	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs553802011	chr6:68914597-68914598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs573844288	chr6:68914680-68914681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs373727138	chr6:68914754-68914755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541868976	chr6:68914755-68914756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs145270908	chr6:68914778-68914779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs575856356	chr6:68914820-68914821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs147643301	chr6:68914843-68914844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Lung cancer	18438408	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
Ependymoma	16718352	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
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21364760	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:68905400-68919200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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