Variant report

Variant	esv3473691
Chromosome Location	chr6:163693860-163694273
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112950462	chr6:163693913-163693914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs201393042	chr6:163693924-163693925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200076248	chr6:163693925-163693926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs374404323	chr6:163693946-163693947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546097751	chr6:163693947-163693948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531216080	chr6:163693950-163693951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs9365547	chr6:163693954-163693955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs35025730	chr6:163694009-163694010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs113214890	chr6:163694016-163694017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs527384595	chr6:163694024-163694025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547644070	chr6:163694031-163694032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs4576225	chr6:163694080-163694081	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs542814717	chr6:163694084-163694085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369148051	chr6:163694127-163694128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552383803	chr6:163694136-163694137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs368007400	chr6:163694152-163694153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537857076	chr6:163694158-163694159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs13200617	chr6:163694161-163694162	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs568432055	chr6:163694183-163694184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs13220528	chr6:163694198-163694199	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs367579299	chr6:163694204-163694205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553974084	chr6:163694215-163694216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371665273	chr6:163694216-163694217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577012991	chr6:163694217-163694218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546336850	chr6:163694223-163694224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555986574	chr6:163694227-163694228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576058159	chr6:163694269-163694270	Weak transcription	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
Pancreatic cancer	17952125	CNVD
abnormal development	18461090	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163682000-163701600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:163686000-163706000	Weak transcription	Brain Angular Gyrus	brain

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