Variant report

Variant	esv3474576
Chromosome Location	chr6:77450333-77454731
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 242 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:242 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564356925	chr6:77450341-77450342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs549835996	chr6:77450359-77450360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190302957	chr6:77450364-77450365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs112271825	chr6:77450397-77450398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs553554285	chr6:77450430-77450431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568606403	chr6:77450432-77450433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181796440	chr6:77450439-77450440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs113290557	chr6:77450451-77450452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557717841	chr6:77450461-77450462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575974624	chr6:77450474-77450475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs150342308	chr6:77450479-77450480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs13207756	chr6:77450505-77450506	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs575084349	chr6:77450554-77450555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375586627	chr6:77450556-77450557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576975237	chr6:77450600-77450601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549912077	chr6:77450606-77450607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373414449	chr6:77450698-77450699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs145253795	chr6:77450705-77450706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs527778323	chr6:77450747-77450748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200710510	chr6:77450773-77450774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs6904146	chr6:77450791-77450792	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs530114825	chr6:77450806-77450807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs199613103	chr6:77450809-77450810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs146461080	chr6:77450830-77450831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531579606	chr6:77450839-77450840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550164600	chr6:77450855-77450856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568218054	chr6:77450865-77450866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs139025401	chr6:77450892-77450893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs59016660	chr6:77450895-77450896	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs370816154	chr6:77450934-77450935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565572144	chr6:77450949-77450950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563086254	chr6:77450990-77450991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs9447770	chr6:77451035-77451036	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs6929083	chr6:77451066-77451067	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs569745250	chr6:77451090-77451091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188101569	chr6:77451098-77451099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs9361122	chr6:77451123-77451124	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs114558554	chr6:77451181-77451182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536197259	chr6:77451195-77451196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554393467	chr6:77451253-77451254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552292070	chr6:77451277-77451278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs9447771	chr6:77451301-77451302	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs546442021	chr6:77451317-77451318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577167871	chr6:77451336-77451337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576491160	chr6:77451355-77451356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs9447772	chr6:77451359-77451360	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs141954275	chr6:77451361-77451362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs9443286	chr6:77451395-77451396	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs116484471	chr6:77451421-77451422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs559242891	chr6:77451448-77451449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	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
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Lung cancer	18438408	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
Developmental delay	21147756	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
Breast cancer	21364760	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

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:77441000-77452800	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr6:77452400-77470200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:77452800-77454400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
4	chr6:77454400-77456400	Weak transcription	H1 Cell Line	embryonic stem cell

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