Variant report

Variant	esv2473852
Chromosome Location	chr6:141538455-141540056
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	chr6:141535806..141537434-chr6:141539065..141540907,2	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552557454	chr6:141538469-141538470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs138117569	chr6:141538527-141538528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546525494	chr6:141538629-141538630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs372106688	chr6:141538652-141538653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569130363	chr6:141538664-141538665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs149565704	chr6:141538686-141538687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs370284870	chr6:141538701-141538702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs144269796	chr6:141538733-141538734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538221916	chr6:141538765-141538766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554936684	chr6:141538776-141538777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs569518410	chr6:141538906-141538907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200041878	chr6:141538909-141538910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536843778	chr6:141538910-141538911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558462126	chr6:141538914-141538915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs61065086	chr6:141538928-141538929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs193140895	chr6:141538940-141538941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534639510	chr6:141538947-141538948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201677031	chr6:141539049-141539050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs377493059	chr6:141539050-141539051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370443222	chr6:141539051-141539052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs60656852	chr6:141539071-141539072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs148749585	chr6:141539105-141539106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185601208	chr6:141539135-141539136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557050878	chr6:141539152-141539153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374511058	chr6:141539154-141539155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531169354	chr6:141539155-141539156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374921056	chr6:141539220-141539221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189312199	chr6:141539267-141539268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545031842	chr6:141539288-141539289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546411424	chr6:141539313-141539314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs73570251	chr6:141539325-141539326	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs561903769	chr6:141539344-141539345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs62430508	chr6:141539432-141539433	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs574774161	chr6:141539433-141539434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561955146	chr6:141539450-141539451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs144750218	chr6:141539461-141539462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs147401015	chr6:141539487-141539488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374190591	chr6:141539506-141539507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562631520	chr6:141539527-141539528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530650584	chr6:141539551-141539552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs377734570	chr6:141539559-141539560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs180974770	chr6:141539618-141539619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570595774	chr6:141539623-141539624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529918491	chr6:141539651-141539652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs184973561	chr6:141539655-141539656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs116424067	chr6:141539727-141539728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546836210	chr6:141539731-141539732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs73570252	chr6:141539752-141539753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs72976023	chr6:141539761-141539762	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs188567330	chr6:141539782-141539783	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
Gastric cancer	17908304	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
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
Hodgkin''s lymphoma	18641027	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute monocytic leukemia	16498392	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
craniofacial dysmorphism	21918468	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:141531600-141542000	Weak transcription	Aorta	Aorta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links