Variant report

Variant	esv3349084
Chromosome Location	chr6:82003583-82005531
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs117230503	chr6:82003602-82003603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs559270286	chr6:82003610-82003611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs139107222	chr6:82003613-82003614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs544756664	chr6:82003632-82003633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs555607931	chr6:82003637-82003638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs374892983	chr6:82003646-82003647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs9443888	chr6:82003663-82003664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs114532933	chr6:82003677-82003678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs574433962	chr6:82003695-82003696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs75164096	chr6:82003752-82003753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs182669114	chr6:82003764-82003765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs534470919	chr6:82003769-82003770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs200911458	chr6:82003771-82003772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs552752948	chr6:82003796-82003797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs531961121	chr6:82003809-82003810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs545429854	chr6:82003814-82003815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs374146855	chr6:82003822-82003823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs113089232	chr6:82003823-82003824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs531532493	chr6:82003841-82003842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs548321074	chr6:82003866-82003867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs73466557	chr6:82003889-82003890	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs187037858	chr6:82003915-82003916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs533260152	chr6:82003917-82003918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs9361784	chr6:82003951-82003952	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs566997486	chr6:82003982-82003983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs373027905	chr6:82004007-82004008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs537233059	chr6:82004031-82004032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs569542883	chr6:82004096-82004097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs538164869	chr6:82004097-82004098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs555285099	chr6:82004132-82004133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs191098603	chr6:82004215-82004216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs542278065	chr6:82004225-82004226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs574931403	chr6:82004249-82004250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs534433944	chr6:82004271-82004272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs553437794	chr6:82004277-82004278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs115882991	chr6:82004289-82004290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs545367911	chr6:82004308-82004309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs562150150	chr6:82004313-82004314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs150925064	chr6:82004347-82004348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs11756196	chr6:82004371-82004372	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs182270405	chr6:82004378-82004379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs201938780	chr6:82004402-82004403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs12204718	chr6:82004453-82004454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs12210983	chr6:82004454-82004455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs566612268	chr6:82004497-82004498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs12333099	chr6:82004521-82004522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs556843063	chr6:82004576-82004577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs4706136	chr6:82004605-82004606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs188914427	chr6:82004640-82004641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs561677547	chr6:82004692-82004693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	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
Ependymoma	16718352	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
Prostate cancer	16573809	CNVD
Breast cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	CNVD
Salivary gland tumor	18059337	CNVD
Lung cancer	16773561	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial cell carcinoma	18451213	CNVD
Prostate cancer	16461572	CNVD
Mental retardation	21045960	CNVD
Obesity	21045960	CNVD
learning difficulties	21045960	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Ductal carcinoma	22052326	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	20164919	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:82002000-82004800	Enhancers	Placenta Amnion	Placenta Amnion
2	chr6:82003000-82004200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:82003200-82004200	Enhancers	Placenta	Placenta
4	chr6:82004200-82007000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:82004200-82007400	Weak transcription	Placenta	Placenta

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