Variant report

Variant	esv3480258
Chromosome Location	chr8:1630648-1632319
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 152 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:152 , 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	rs11784494	chr8:1630662-1630663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs569828532	chr8:1630663-1630664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182175335	chr8:1630693-1630694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs149183353	chr8:1630703-1630704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs566225931	chr8:1630714-1630715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535050685	chr8:1630733-1630734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555242356	chr8:1630734-1630735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574379725	chr8:1630743-1630744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs543428335	chr8:1630744-1630745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs547051416	chr8:1630755-1630756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567168163	chr8:1630765-1630766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534209969	chr8:1630766-1630767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs142392130	chr8:1630778-1630779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528286000	chr8:1630786-1630787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567516620	chr8:1630787-1630788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537987771	chr8:1630788-1630789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556246246	chr8:1630801-1630802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187187023	chr8:1630803-1630804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191596018	chr8:1630814-1630815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549784092	chr8:1630838-1630839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569664907	chr8:1630841-1630842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577997931	chr8:1630848-1630849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545405073	chr8:1630850-1630851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532481912	chr8:1630852-1630853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs147938981	chr8:1630858-1630859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572334849	chr8:1630879-1630880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs141219403	chr8:1630886-1630887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554998311	chr8:1630887-1630888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530446631	chr8:1630894-1630895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370697818	chr8:1630908-1630909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568752743	chr8:1630913-1630914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556264692	chr8:1630917-1630918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs146958430	chr8:1630925-1630926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs116940769	chr8:1630940-1630941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545966892	chr8:1630945-1630946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561107590	chr8:1630946-1630947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs58785808	chr8:1630958-1630959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs75108613	chr8:1630961-1630962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs561702862	chr8:1630973-1630974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs137865961	chr8:1630974-1630975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs544057799	chr8:1630977-1630978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370386512	chr8:1631019-1631020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183730268	chr8:1631021-1631022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs532371118	chr8:1631036-1631037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543597117	chr8:1631063-1631064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564996073	chr8:1631064-1631065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532073704	chr8:1631074-1631075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs559784951	chr8:1631076-1631077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570557732	chr8:1631084-1631085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547402292	chr8:1631089-1631090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:115)

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
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1620000-1643800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:1621200-1633400	Weak transcription	Brain Germinal Matrix	brain
3	chr8:1621400-1646200	Weak transcription	Brain Angular Gyrus	brain
4	chr8:1626200-1633200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr8:1630400-1631600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:1631400-1631800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr8:1631400-1631800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr8:1631600-1631800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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