Variant report

Variant	esv3334253
Chromosome Location	chr6:142920209-142922307
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 122 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:122 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138116745	chr6:142920255-142920256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs113421240	chr6:142920279-142920280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs9373354	chr6:142920291-142920292	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs374930953	chr6:142920331-142920332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs528630158	chr6:142920335-142920336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs547193454	chr6:142920421-142920422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs117563306	chr6:142920425-142920426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529474740	chr6:142920428-142920429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs187834280	chr6:142920450-142920451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs569472651	chr6:142920478-142920479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs199667411	chr6:142920487-142920488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540696300	chr6:142920495-142920496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552782689	chr6:142920502-142920503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs539388006	chr6:142920556-142920557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557368951	chr6:142920591-142920592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs566210478	chr6:142920596-142920597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533688521	chr6:142920651-142920652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555131089	chr6:142920658-142920659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192570326	chr6:142920660-142920661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111241573	chr6:142920671-142920672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556392561	chr6:142920672-142920673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs139440467	chr6:142920713-142920714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs546163252	chr6:142920723-142920724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs184981262	chr6:142920730-142920731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573370082	chr6:142920818-142920819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs149670120	chr6:142920819-142920820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs368859045	chr6:142920889-142920890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190272594	chr6:142920912-142920913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529462306	chr6:142920918-142920919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550909955	chr6:142920926-142920927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563183803	chr6:142920945-142920946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs367609931	chr6:142920950-142920951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs181878839	chr6:142920957-142920958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552976212	chr6:142920985-142920986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569164860	chr6:142921025-142921026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs144479454	chr6:142921038-142921039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566173488	chr6:142921064-142921065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371864003	chr6:142921066-142921067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111426256	chr6:142921101-142921102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201769326	chr6:142921118-142921119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373598087	chr6:142921120-142921121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200137567	chr6:142921121-142921122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs139028482	chr6:142921122-142921123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112751396	chr6:142921131-142921132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548618464	chr6:142921134-142921135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs567268744	chr6:142921136-142921137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs59143713	chr6:142921138-142921139	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs375469565	chr6:142921139-142921140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs56745865	chr6:142921140-142921141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs374729713	chr6:142921141-142921142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
lymphocytic leukemia	21291569	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
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Follicular lymphoma	18703704	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
Breast cancer	21364760	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:142917800-142920400	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr6:142919400-142926800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr6:142919800-142927000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links