Variant report

Variant	esv3419105
Chromosome Location	chr6:143294209-143297007
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:143292684..143294337-chr6:143295004..143298111,3	K562	blood:
2	chr6:143254535..143256627-chr6:143292877..143294964,2	K562	blood:
3	chr6:143263499..143265397-chr6:143292673..143294273,2	K562	blood:
4	chr6:143292684..143294337-chr6:143295004..143298111,3	K562	blood:

Extended variants
information (count: 100 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372747653	chr6:143294216-143294217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs76363129	chr6:143294250-143294251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552568138	chr6:143294268-143294269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566324046	chr6:143294276-143294277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs376166289	chr6:143294291-143294292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190662281	chr6:143294327-143294328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555339066	chr6:143294329-143294330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182581397	chr6:143294375-143294376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537723359	chr6:143294414-143294415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs80333300	chr6:143294454-143294455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs144658752	chr6:143294500-143294501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558720578	chr6:143294535-143294536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs186279171	chr6:143294567-143294568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs73588465	chr6:143294568-143294569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528651072	chr6:143294572-143294573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs73777834	chr6:143294579-143294580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs191523532	chr6:143294636-143294637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs147452817	chr6:143294659-143294660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182554783	chr6:143294770-143294771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563107815	chr6:143294771-143294772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575470621	chr6:143294800-143294801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546030561	chr6:143294831-143294832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565176168	chr6:143294860-143294861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375698938	chr6:143294889-143294890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548777299	chr6:143294995-143294996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs9484684	chr6:143295023-143295024	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs547136731	chr6:143295030-143295031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs145422410	chr6:143295075-143295076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs35126064	chr6:143295084-143295085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548825467	chr6:143295098-143295099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs188020025	chr6:143295106-143295107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs145009438	chr6:143295107-143295108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552824592	chr6:143295147-143295148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192333015	chr6:143295199-143295200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549763094	chr6:143295273-143295274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534586763	chr6:143295298-143295299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs552681710	chr6:143295317-143295318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs60584304	chr6:143295327-143295328	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs535148969	chr6:143295340-143295341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs183241307	chr6:143295351-143295352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187275368	chr6:143295406-143295407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570921209	chr6:143295414-143295415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575354659	chr6:143295427-143295428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545827136	chr6:143295529-143295530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs564385499	chr6:143295580-143295581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs142223570	chr6:143295581-143295582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200402657	chr6:143295598-143295599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201469756	chr6:143295599-143295600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192154978	chr6:143295601-143295602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs199816909	chr6:143295611-143295612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:143281600-143298600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:143296000-143297200	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr6:143296000-143297600	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr6:143296200-143297000	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr6:143296400-143296800	Enhancers	HUVEC	blood vessel
6	chr6:143296400-143297000	Enhancers	Primary B cells from cord blood	blood
7	chr6:143296600-143296800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr6:143296600-143297000	Enhancers	Primary B cells from peripheral blood	blood
9	chr6:143296600-143297000	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr6:143296600-143297000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links