Variant report

Variant	esv3493292
Chromosome Location	chr6:81851683-81855081
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368093148	chr6:81853624-81853625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs528520190	chr6:81853642-81853643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs551581980	chr6:81853661-81853662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs77723330	chr6:81853687-81853688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs114552872	chr6:81853728-81853729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs146228174	chr6:81853729-81853730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs567294636	chr6:81853731-81853732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs72897305	chr6:81853748-81853749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs185115051	chr6:81853755-81853756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs144497126	chr6:81853842-81853843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs75331812	chr6:81853855-81853856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs142964055	chr6:81853869-81853870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs549514843	chr6:81853875-81853876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs9449248	chr6:81853894-81853895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs575490281	chr6:81853898-81853899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs190707521	chr6:81853907-81853908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs200327340	chr6:81853918-81853919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs554561456	chr6:81853950-81853951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs574634972	chr6:81853958-81853959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs114115853	chr6:81853961-81853962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs528309603	chr6:81853962-81853963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs117592738	chr6:81853967-81853968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs368113992	chr6:81853979-81853980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs571499249	chr6:81854003-81854004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs531528851	chr6:81854041-81854042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs79215423	chr6:81854042-81854043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs77480944	chr6:81854048-81854049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs397737590	chr6:81854051-81854052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs565183067	chr6:81854054-81854055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs144319067	chr6:81854087-81854088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs551112143	chr6:81854097-81854098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs567863621	chr6:81854125-81854126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs530388302	chr6:81854126-81854127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs371514506	chr6:81854135-81854136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs546293017	chr6:81854148-81854149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs12665863	chr6:81854169-81854170	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs148802609	chr6:81854208-81854209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs552301107	chr6:81854209-81854210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs569116832	chr6:81854249-81854250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs537654743	chr6:81854283-81854284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs554703519	chr6:81854290-81854291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs371984297	chr6:81854307-81854308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs181949238	chr6:81854347-81854348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs73749048	chr6:81854406-81854407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs142471843	chr6:81854415-81854416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs151321798	chr6:81854424-81854425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs545138375	chr6:81854426-81854427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs185725534	chr6:81854493-81854494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs57186882	chr6:81854497-81854498	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs575285361	chr6:81854519-81854520	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
Tetralogy of Fallot	22912587	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:81853600-81855800	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr6:81854000-81854600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr6:81854000-81855200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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