Variant report

Variant	esv1833115
Chromosome Location	chr8:1340053-1355951
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550750887	chr8:1340095-1340096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs570933996	chr8:1340121-1340122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539612116	chr8:1340133-1340134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556309424	chr8:1340138-1340139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568009503	chr8:1340149-1340150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553174436	chr8:1340160-1340161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs7012464	chr8:1340172-1340173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs138156472	chr8:1340174-1340175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538596838	chr8:1340192-1340193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555683018	chr8:1340193-1340194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575081740	chr8:1340205-1340206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554031489	chr8:1340207-1340208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556614371	chr8:1340208-1340209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544201724	chr8:1340215-1340216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141625457	chr8:1340221-1340222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576510829	chr8:1340238-1340239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs147070684	chr8:1340241-1340242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7012599	chr8:1340243-1340244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537082295	chr8:1340255-1340256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191589296	chr8:1340311-1340312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184414157	chr8:1340315-1340316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375500066	chr8:1340323-1340324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs77100660	chr8:1340332-1340333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs17827850	chr8:1340335-1340336	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs189694842	chr8:1340346-1340347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181171990	chr8:1340351-1340352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570831232	chr8:1340352-1340353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7825988	chr8:1340364-1340365	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs185230117	chr8:1340387-1340388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs6558464	chr8:1340428-1340429	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs188780190	chr8:1340430-1340431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs542466011	chr8:1340432-1340433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs558243011	chr8:1340437-1340438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs576180878	chr8:1340448-1340449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs569545959	chr8:1340461-1340462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs141849875	chr8:1340465-1340466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs150680176	chr8:1340477-1340478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs577600022	chr8:1340490-1340491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs543523933	chr8:1340491-1340492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs553956556	chr8:1340494-1340495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs7017774	chr8:1340507-1340508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs7017920	chr8:1340524-1340525	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs562607694	chr8:1340535-1340536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs545377659	chr8:1340547-1340548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs531657553	chr8:1340564-1340565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs545003625	chr8:1340567-1340568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs34213415	chr8:1340584-1340585	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs544595593	chr8:1340586-1340587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs527892842	chr8:1340588-1340589	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:118)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Cancer	18840272	CNVD
Pilocytic astrocytoma	18622384	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	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
Cancer	20164919	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	20729466	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	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
Breast cancer	21364760	CNVD
Esophageal adenocarcinoma	19417022	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
Autism	20531469	CNVD
Breast cancer	20932292	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1338000-1340400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:1340400-1340600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:1340400-1340600	Enhancers	Stomach Smooth Muscle	stomach

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