Variant report

Variant	esv3436869
Chromosome Location	chr8:5969044-5973442
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 401 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:401 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577847906	chr8:5969046-5969047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs182894738	chr8:5969058-5969059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs113558529	chr8:5969073-5969074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571535754	chr8:5969081-5969082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs187533317	chr8:5969083-5969084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs115908887	chr8:5969088-5969089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191870400	chr8:5969099-5969100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184111552	chr8:5969100-5969101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs73512016	chr8:5969117-5969118	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs200462274	chr8:5969135-5969136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565516811	chr8:5969137-5969138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187550866	chr8:5969143-5969144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192774256	chr8:5969144-5969145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7001979	chr8:5969161-5969162	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs543999101	chr8:5969171-5969172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs182489482	chr8:5969176-5969177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528879013	chr8:5969178-5969179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549027368	chr8:5969189-5969190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374508716	chr8:5969190-5969191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565631732	chr8:5969194-5969195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs530972509	chr8:5969198-5969199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186856005	chr8:5969207-5969208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs73512018	chr8:5969222-5969223	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs139962622	chr8:5969236-5969237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs111770216	chr8:5969238-5969239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs367675510	chr8:5969246-5969247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112566425	chr8:5969253-5969254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372885322	chr8:5969255-5969256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs199636834	chr8:5969260-5969261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs6983584	chr8:5969268-5969269	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs553380066	chr8:5969298-5969299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs191690278	chr8:5969328-5969329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs118139606	chr8:5969332-5969333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs114821530	chr8:5969347-5969348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs13281569	chr8:5969353-5969354	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs544854588	chr8:5969357-5969358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561542113	chr8:5969376-5969377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs530462361	chr8:5969377-5969378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs547111341	chr8:5969390-5969391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548986904	chr8:5969398-5969399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs13281843	chr8:5969411-5969412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184238757	chr8:5969415-5969416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529331753	chr8:5969428-5969429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551478643	chr8:5969430-5969431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs143514441	chr8:5969432-5969433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190288848	chr8:5969445-5969446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs193065682	chr8:5969463-5969464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567220333	chr8:5969470-5969471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536187416	chr8:5969474-5969475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553052401	chr8:5969478-5969479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:120)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Epilepsy	22083797	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Cancer	20164920	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-small cell lung cancer	21829676	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Prostate cancer	17217626	CNVD
Developmental delay	19128483	CNVD
Neuroticism	17667963	CNVD
Leukoplakia	24403051	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	21364760	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Cancer	20164919	CNVD
Medulloblastoma	16783165	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Melanoma	20688739	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:5962200-5979000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:5973000-5973600	Enhancers	Brain Anterior Caudate	brain
3	chr8:5973000-5973800	Enhancers	Brain Hippocampus Middle	brain
4	chr8:5973000-5974000	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr8:5973200-5973600	Enhancers	Brain Substantia Nigra	brain

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