Variant report

Variant	esv32623
Chromosome Location	chr6:74982882-74985559
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 118 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:118 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4708140	chr6:74982935-74982936	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs528849709	chr6:74982973-74982974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs1489380	chr6:74982991-74982992	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs16884593	chr6:74982997-74982998	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs139063911	chr6:74983082-74983083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575500454	chr6:74983083-74983084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141565718	chr6:74983103-74983104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs150493094	chr6:74983109-74983110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs1844317	chr6:74983142-74983143	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs369637066	chr6:74983165-74983166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567236524	chr6:74983199-74983200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191238691	chr6:74983226-74983227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs138269642	chr6:74983248-74983249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572392274	chr6:74983286-74983287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs149615409	chr6:74983321-74983322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572965940	chr6:74983328-74983329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558287093	chr6:74983386-74983387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560974942	chr6:74983389-74983390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs1387420	chr6:74983420-74983421	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs541029989	chr6:74983433-74983434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562339751	chr6:74983439-74983440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs4706577	chr6:74983451-74983452	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs200358875	chr6:74983477-74983478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541395232	chr6:74983550-74983551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs4706578	chr6:74983606-74983607	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs146200551	chr6:74983696-74983697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs4708141	chr6:74983697-74983698	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs72953763	chr6:74983753-74983754	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs530582576	chr6:74983760-74983761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs4708142	chr6:74983769-74983770	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs184859135	chr6:74983805-74983806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs567836851	chr6:74983808-74983809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs189327696	chr6:74983840-74983841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs535310766	chr6:74983851-74983852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs137943770	chr6:74983873-74983874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs552721044	chr6:74983906-74983907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs386702735	chr6:74983907-74983908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs369626974	chr6:74983908-74983909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs535783908	chr6:74983909-74983910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs576633652	chr6:74983929-74983930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs142323391	chr6:74983977-74983978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs571260106	chr6:74983978-74983979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs78107143	chr6:74984023-74984024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs186804064	chr6:74984030-74984031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs541706635	chr6:74984038-74984039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs145933396	chr6:74984079-74984080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs577522843	chr6:74984115-74984116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs544618559	chr6:74984122-74984123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs563014980	chr6:74984156-74984157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs530509222	chr6:74984169-74984170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Chronic lymphocytic leukemia	21546498	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
Malignant fibrous histiocytomas	21085701	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
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	17437010	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Multiple myeloma	16616336	CNVD
Acute myeloid leukemia	16864856	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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74979400-74987400	Weak transcription	Fetal Muscle Leg	muscle
2	chr6:74979600-74983800	Weak transcription	Fetal Stomach	stomach
3	chr6:74983800-74984200	Enhancers	Fetal Stomach	stomach

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