Variant report

Variant	esv3369453
Chromosome Location	chr6:163163762-163167960
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369106392	chr6:163163793-163163794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs184020190	chr6:163163870-163163871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557494577	chr6:163163884-163163885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs374299711	chr6:163163942-163163943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186303112	chr6:163163971-163163972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543276741	chr6:163163974-163163975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs367855731	chr6:163163985-163163986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs139506672	chr6:163164014-163164015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189860861	chr6:163164048-163164049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs34376016	chr6:163164084-163164085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182172651	chr6:163164092-163164093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554545988	chr6:163164093-163164094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561929264	chr6:163164094-163164095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562196599	chr6:163164239-163164240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187238407	chr6:163164248-163164249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs547892776	chr6:163164344-163164345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564290101	chr6:163164362-163164363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190195033	chr6:163164365-163164366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573254634	chr6:163164405-163164406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550450939	chr6:163164519-163164520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570412284	chr6:163164538-163164539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371767512	chr6:163164553-163164554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549629677	chr6:163164556-163164557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565743760	chr6:163164563-163164564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534390840	chr6:163164602-163164603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557847907	chr6:163164648-163164649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571114653	chr6:163164677-163164678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183563673	chr6:163164709-163164710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556833738	chr6:163164757-163164758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540406540	chr6:163164801-163164802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573638371	chr6:163164832-163164833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542391834	chr6:163164851-163164852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552864205	chr6:163164868-163164869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565456236	chr6:163164935-163164936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573011644	chr6:163165011-163165012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529031553	chr6:163165079-163165080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs147934993	chr6:163165086-163165087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564609667	chr6:163165190-163165191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577412553	chr6:163165191-163165192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550483181	chr6:163165256-163165257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533363076	chr6:163165264-163165265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543881663	chr6:163165265-163165266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs73601925	chr6:163165272-163165273	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs376427943	chr6:163165288-163165289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529639725	chr6:163165311-163165312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188612812	chr6:163165322-163165323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs34035978	chr6:163165336-163165337	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs192816866	chr6:163165358-163165359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs140044630	chr6:163165418-163165419	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs376529756	chr6:163165458-163165459	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
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
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
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	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
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
Atherosclerosis	21956041	CNVD
Maculopathy	20981449	CNVD
Retinoblastoma	22278416	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Uveal melanoma	20484589	CNVD
Glioblastoma multiforme	19435819	CNVD
Astrocytoma	16205629	CNVD
Parkinson disease	17160897	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian cancer	22355333	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163148800-163165400	Weak transcription	Gastric	stomach
2	chr6:163165400-163165600	Active TSS	Gastric	stomach
3	chr6:163167600-163168200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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