Variant report

Variant	esv1795260
Chromosome Location	chr6:77431031-77453089
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 813 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:813 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7752317	chr6:77431031-77431032	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs568645248	chr6:77431036-77431037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545716690	chr6:77431046-77431047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs77673909	chr6:77431080-77431081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs535952217	chr6:77431085-77431086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs7752483	chr6:77431142-77431143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554350441	chr6:77431174-77431175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs34683878	chr6:77431178-77431179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs368597417	chr6:77431185-77431186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572457765	chr6:77431223-77431224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7772609	chr6:77431234-77431235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs151045339	chr6:77431239-77431240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558155431	chr6:77431327-77431328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7752541	chr6:77431342-77431343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554616839	chr6:77431349-77431350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553225145	chr6:77431351-77431352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572986741	chr6:77431359-77431360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs115585749	chr6:77431366-77431367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12661147	chr6:77431429-77431430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs9447748	chr6:77431438-77431439	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs542113063	chr6:77431444-77431445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs7772963	chr6:77431451-77431452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573825395	chr6:77431453-77431454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540714985	chr6:77431569-77431570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559054534	chr6:77431578-77431579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532743053	chr6:77431620-77431621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs1457961	chr6:77431679-77431680	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs62433393	chr6:77431685-77431686	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs531867086	chr6:77431763-77431764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs9341593	chr6:77431766-77431767	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs80079567	chr6:77431788-77431789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs115171069	chr6:77431812-77431813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150185141	chr6:77431813-77431814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181992219	chr6:77431830-77431831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539955338	chr6:77431903-77431904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557826104	chr6:77431911-77431912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570035706	chr6:77431940-77431941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs114092290	chr6:77431942-77431943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111923378	chr6:77431975-77431976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs1457962	chr6:77432018-77432019	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs573484018	chr6:77432043-77432044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540854375	chr6:77432060-77432061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs116966714	chr6:77432070-77432071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577281426	chr6:77432105-77432106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs138951649	chr6:77432108-77432109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs543295560	chr6:77432137-77432138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375223547	chr6:77432142-77432143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149419453	chr6:77432161-77432162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs78794758	chr6:77432172-77432173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528760497	chr6:77432214-77432215	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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:77425600-77433000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr6:77434400-77434600	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr6:77436200-77437000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr6:77439200-77441000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
5	chr6:77441000-77452800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr6:77443200-77443600	Active TSS	Aorta	Aorta
7	chr6:77452400-77470200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr6:77452800-77454400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell

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