Variant report

Variant	esv12306
Chromosome Location	chr6:75718864-75722640
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 186 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:186 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs57580149	chr6:75718869-75718870	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs552764684	chr6:75718884-75718885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs112958583	chr6:75718892-75718893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs111730574	chr6:75718904-75718905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs549629002	chr6:75718947-75718948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568185781	chr6:75718963-75718964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs151259859	chr6:75718988-75718989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs9443140	chr6:75718996-75718997	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs9443141	chr6:75719015-75719016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374270731	chr6:75719017-75719018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs138482046	chr6:75719030-75719031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557482119	chr6:75719059-75719060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576179341	chr6:75719085-75719086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs187007505	chr6:75719092-75719093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201563678	chr6:75719108-75719109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552915824	chr6:75719129-75719130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571112890	chr6:75719144-75719145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574923984	chr6:75719164-75719165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542235786	chr6:75719182-75719183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560492970	chr6:75719231-75719232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570095330	chr6:75719263-75719264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs142926450	chr6:75719289-75719290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564669430	chr6:75719298-75719299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs145127422	chr6:75719302-75719303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191797907	chr6:75719305-75719306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537467110	chr6:75719311-75719312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561622584	chr6:75719318-75719319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs529022015	chr6:75719339-75719340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546945834	chr6:75719357-75719358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184279683	chr6:75719396-75719397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539319440	chr6:75719404-75719405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551276998	chr6:75719433-75719434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569967308	chr6:75719434-75719435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549715982	chr6:75719453-75719454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536824118	chr6:75719467-75719468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555577211	chr6:75719478-75719479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574799880	chr6:75719510-75719511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs199536733	chr6:75719520-75719521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs137971175	chr6:75719548-75719549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs149496654	chr6:75719551-75719552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs9447410	chr6:75719559-75719560	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs546256040	chr6:75719572-75719573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs143868593	chr6:75719573-75719574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576717519	chr6:75719590-75719591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187429494	chr6:75719595-75719596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs193040570	chr6:75719605-75719606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs148601721	chr6:75719606-75719607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185693732	chr6:75719610-75719611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547110351	chr6:75719619-75719620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558887419	chr6:75719623-75719624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
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
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
Chronic lymphocytic leukemia	21546498	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
Myelodysplastic syndrome	18508791	CNVD
Breast cancer	21364760	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:75707800-75721600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr6:75721400-75722000	Enhancers	Stomach Smooth Muscle	stomach
3	chr6:75721600-75721800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr6:75721600-75722000	Enhancers	Duodenum Smooth Muscle	Duodenum

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