Variant report

Variant	esv3414435
Chromosome Location	chr8:1468620-1470918
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 201 )
Associated
traits (count: 117 )

Variant overlapped rSNPs/rCNVs (count:201 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184965067	chr8:1468637-1468638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs111938342	chr8:1468681-1468682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566148579	chr8:1468685-1468686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535234965	chr8:1468690-1468691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs554820951	chr8:1468702-1468703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190211855	chr8:1468708-1468709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs882120	chr8:1468728-1468729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs371390936	chr8:1468739-1468740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575935039	chr8:1468744-1468745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs557222029	chr8:1468748-1468749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs576463139	chr8:1468765-1468766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs377419436	chr8:1468783-1468784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373699593	chr8:1468796-1468797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs180900994	chr8:1468811-1468812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs147482651	chr8:1468813-1468814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs148544987	chr8:1468815-1468816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532372696	chr8:1468863-1468864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201395517	chr8:1468868-1468869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561781267	chr8:1468885-1468886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs530725104	chr8:1468909-1468910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs550931493	chr8:1468919-1468920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs757882	chr8:1468968-1468969	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs532570380	chr8:1468975-1468976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552569165	chr8:1468978-1468979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566170769	chr8:1468989-1468990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534760237	chr8:1468993-1468994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370764154	chr8:1468994-1468995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375166058	chr8:1469001-1469002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs142755429	chr8:1469021-1469022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568601388	chr8:1469045-1469046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs150616448	chr8:1469047-1469048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186131571	chr8:1469058-1469059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs189415249	chr8:1469077-1469078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552505342	chr8:1469102-1469103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs572794170	chr8:1469119-1469120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541603689	chr8:1469126-1469127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368390246	chr8:1469157-1469158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181303637	chr8:1469162-1469163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs2108119	chr8:1469163-1469164	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs377061421	chr8:1469164-1469165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs757883	chr8:1469170-1469171	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs564386070	chr8:1469171-1469172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533221173	chr8:1469174-1469175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs115043229	chr8:1469177-1469178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559531862	chr8:1469191-1469192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs185379308	chr8:1469208-1469209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs2020405	chr8:1469213-1469214	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs537134236	chr8:1469217-1469218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs139960844	chr8:1469233-1469234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs377292536	chr8:1469281-1469282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:117)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Ependymoma	20639864	CNVD
Ovarian cancer	22355333	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1456200-1471400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:1466000-1470400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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