Variant report

Variant	nsv524076
Chromosome Location	chr6:145600618-145609950
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:145601721..145603777-chr6:145606644..145608326,2	K562	blood:
2	chr6:145601721..145603777-chr6:145606644..145608326,2	K562	blood:
3	chr2:216767388..216769620-chr6:145605820..145607827,2	MCF-7	breast:

Extended variants
information (count: 346 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:346 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559087	chr6:145600618-145600619	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs556491	chr6:145600704-145600705	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs558138	chr6:145600724-145600725	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs536190706	chr6:145600732-145600733	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552789865	chr6:145600771-145600772	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557970	chr6:145600788-145600789	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs145978946	chr6:145600794-145600795	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs557229	chr6:145600810-145600811	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs553919798	chr6:145600822-145600823	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568237754	chr6:145600853-145600854	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535522919	chr6:145600909-145600910	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556291	chr6:145600941-145600942	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs138580619	chr6:145600955-145600956	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs143003327	chr6:145600964-145600965	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs146123307	chr6:145600998-145600999	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs115726590	chr6:145601052-145601053	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540458268	chr6:145601097-145601098	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs202125888	chr6:145601153-145601154	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs10544527	chr6:145601154-145601155	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200716221	chr6:145601155-145601156	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs398066347	chr6:145601178-145601179	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs398002991	chr6:145601179-145601180	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113856436	chr6:145601180-145601181	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577782467	chr6:145601207-145601208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561835126	chr6:145601286-145601287	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573792311	chr6:145601290-145601291	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544255117	chr6:145601308-145601309	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552625	chr6:145601346-145601347	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs532990140	chr6:145601379-145601380	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563757417	chr6:145601404-145601405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs12111100	chr6:145601470-145601471	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs148759086	chr6:145601532-145601533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528733691	chr6:145601533-145601534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs1321529	chr6:145601560-145601561	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs141583781	chr6:145601578-145601579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535583247	chr6:145601585-145601586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs551103809	chr6:145601602-145601603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs150896927	chr6:145601604-145601605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545422371	chr6:145601618-145601619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189261934	chr6:145601670-145601671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573195586	chr6:145601725-145601726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181587823	chr6:145601753-145601754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555608063	chr6:145601754-145601755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573833070	chr6:145601786-145601787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548344425	chr6:145601791-145601792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527009	chr6:145601820-145601821	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs145341710	chr6:145601829-145601830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs2023271	chr6:145601870-145601871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs62440176	chr6:145601906-145601907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs140813799	chr6:145601908-145601909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:145598400-145603600	Weak transcription	Stomach Mucosa	stomach
2	chr6:145599000-145601400	Enhancers	Fetal Brain Male	brain
3	chr6:145599800-145607400	Weak transcription	Fetal Heart	heart
4	chr6:145603600-145604400	Enhancers	Stomach Mucosa	stomach
5	chr6:145603800-145604400	Enhancers	Hela-S3	cervix
6	chr6:145604400-145605000	Weak transcription	Stomach Mucosa	stomach
7	chr6:145605000-145605200	Enhancers	Stomach Mucosa	stomach
8	chr6:145605200-145607000	Weak transcription	Stomach Mucosa	stomach
9	chr6:145607000-145607200	Enhancers	Stomach Mucosa	stomach
10	chr6:145607400-145607600	Enhancers	Fetal Heart	heart
11	chr6:145609200-145609400	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr6:145609400-145610400	Weak transcription	Pancreatic Islets	Pancreatic Islet

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