Variant report

Variant	esv2549276
Chromosome Location	chr8:1589667-1592934
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 265 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:265 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6995152	chr8:1589681-1589682	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs533005468	chr8:1589699-1589700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs74476163	chr8:1589700-1589701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566672400	chr8:1589703-1589704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs574881588	chr8:1589705-1589706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191389503	chr8:1589726-1589727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs6995306	chr8:1589737-1589738	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs568493059	chr8:1589739-1589740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs145519237	chr8:1589740-1589741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550915542	chr8:1589747-1589748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570863967	chr8:1589748-1589749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534831429	chr8:1589802-1589803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7015110	chr8:1589888-1589889	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs77867208	chr8:1589889-1589890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs371863272	chr8:1589901-1589902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201104571	chr8:1589910-1589911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs146522659	chr8:1589940-1589941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371098711	chr8:1589997-1589998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555663857	chr8:1590039-1590040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111351728	chr8:1590040-1590041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374527679	chr8:1590042-1590043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575413755	chr8:1590045-1590046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543874637	chr8:1590048-1590049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs114530848	chr8:1590049-1590050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs116611814	chr8:1590051-1590052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs142846569	chr8:1590065-1590066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs62483072	chr8:1590071-1590072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs62483073	chr8:1590073-1590074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529075166	chr8:1590079-1590080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371708833	chr8:1590082-1590083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs111620599	chr8:1590108-1590109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374982216	chr8:1590113-1590114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs62483074	chr8:1590133-1590134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs62483075	chr8:1590135-1590136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs2472089	chr8:1590142-1590143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs62483076	chr8:1590144-1590145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549168772	chr8:1590145-1590146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs62483077	chr8:1590147-1590148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372978742	chr8:1590166-1590167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs71518003	chr8:1590172-1590173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs2469738	chr8:1590175-1590176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192268424	chr8:1590195-1590196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs56253320	chr8:1590200-1590201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186614094	chr8:1590206-1590207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372341068	chr8:1590209-1590210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570346397	chr8:1590226-1590227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375302252	chr8:1590237-1590238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs369328152	chr8:1590256-1590257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111881576	chr8:1590257-1590258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375811315	chr8:1590259-1590260	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:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1575200-1599400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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