Variant report

Variant	esv3365104
Chromosome Location	chr6:161012410-161013541
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9456550	chr6:161012410-161012411	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs7754526	chr6:161012443-161012444	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs545304278	chr6:161012479-161012480	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs191782256	chr6:161012514-161012515	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371418744	chr6:161012619-161012620	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs182877550	chr6:161012645-161012646	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575545361	chr6:161012697-161012698	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs75188747	chr6:161012712-161012713	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs9457946	chr6:161012749-161012750	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs9456551	chr6:161012805-161012806	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs529715672	chr6:161012847-161012848	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201263011	chr6:161012853-161012854	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs397897328	chr6:161012854-161012855	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs546692265	chr6:161012877-161012878	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187556174	chr6:161012881-161012882	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532595642	chr6:161012919-161012920	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs193224291	chr6:161012958-161012959	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569250032	chr6:161012964-161012965	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs62441936	chr6:161012965-161012966	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs548239999	chr6:161012976-161012977	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs373838863	chr6:161012997-161012998	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs539364070	chr6:161013008-161013009	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs140570886	chr6:161013013-161013014	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534001490	chr6:161013018-161013019	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs6927129	chr6:161013019-161013020	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs77348928	chr6:161013030-161013031	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538879402	chr6:161013036-161013037	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185661834	chr6:161013038-161013039	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575565448	chr6:161013057-161013058	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs73784300	chr6:161013108-161013109	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs145692920	chr6:161013112-161013113	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs111585316	chr6:161013118-161013119	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375076325	chr6:161013160-161013161	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539927637	chr6:161013179-161013180	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560226535	chr6:161013188-161013189	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575427397	chr6:161013220-161013221	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs141284260	chr6:161013234-161013235	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs116882670	chr6:161013255-161013256	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs140109692	chr6:161013270-161013271	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs145857718	chr6:161013272-161013273	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs72501792	chr6:161013273-161013274	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs41272060	chr6:161013279-161013280	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs41272058	chr6:161013281-161013282	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369767761	chr6:161013283-161013284	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs34600300	chr6:161013322-161013323	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs372110184	chr6:161013328-161013329	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189391597	chr6:161013335-161013336	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113011905	chr6:161013382-161013383	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs147629051	chr6:161013401-161013402	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs150372644	chr6:161013453-161013454	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
low-grade B-cell lymphoma tumor	18367492	CNVD
Chordoma	18071362	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21509527	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
Carotid artery disease	21127300	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Astrocytoma	16205629	CNVD
Parkinson disease	17160897	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:160990600-161032600	Strong transcription	Liver	Liver
2	chr6:161009000-161019200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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