Variant report

Variant	esv275529
Chromosome Location	chr6:142800326-142804478
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 147 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:147 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533655706	chr6:142800388-142800389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs534475625	chr6:142800408-142800409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551822394	chr6:142800463-142800464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200637224	chr6:142800524-142800525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs187519715	chr6:142800537-142800538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs116927817	chr6:142800593-142800594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs557899966	chr6:142800594-142800595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191303514	chr6:142800599-142800600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537621612	chr6:142800600-142800601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs115679749	chr6:142800637-142800638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs9321870	chr6:142800758-142800759	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs199926443	chr6:142800801-142800802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10556733	chr6:142800815-142800816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs9496394	chr6:142800824-142800825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs6907568	chr6:142800828-142800829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369367250	chr6:142800839-142800840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200828215	chr6:142800860-142800861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs71550975	chr6:142800862-142800863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs58511400	chr6:142800863-142800864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs6907889	chr6:142800864-142800865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372903090	chr6:142800903-142800904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553826338	chr6:142800904-142800905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573146284	chr6:142800914-142800915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs34651011	chr6:142800947-142800948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200176538	chr6:142800964-142800965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540279813	chr6:142800977-142800978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555865427	chr6:142801084-142801085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369195102	chr6:142801100-142801101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs138563763	chr6:142801107-142801108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372659535	chr6:142801204-142801205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs62430184	chr6:142801207-142801208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187734384	chr6:142801218-142801219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533402196	chr6:142801230-142801231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545634655	chr6:142801233-142801234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192684874	chr6:142801241-142801242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs527245987	chr6:142801249-142801250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575485158	chr6:142801272-142801273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs544124086	chr6:142801308-142801309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113056737	chr6:142801321-142801322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs566947977	chr6:142801332-142801333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs185074451	chr6:142801355-142801356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549503789	chr6:142801375-142801376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371530587	chr6:142801406-142801407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571335888	chr6:142801487-142801488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs79083898	chr6:142801555-142801556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571414943	chr6:142801568-142801569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs80209467	chr6:142801569-142801570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs190364494	chr6:142801573-142801574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs377498045	chr6:142801650-142801651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192571348	chr6:142801724-142801725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
craniofacial dysmorphism	21918468	CNVD
Burkitt''s lymphoma	19759907	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:142796000-142806200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr6:142803400-142803800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr6:142803600-142804400	Enhancers	Monocytes-CD14+_RO01746	blood

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