Variant report

Variant	esv3481305
Chromosome Location	chr8:1590894-1592376
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 127 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:127 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146755466	chr8:1590902-1590903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs367631811	chr8:1590907-1590908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs6999806	chr8:1590908-1590909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs374511134	chr8:1590910-1590911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs368358315	chr8:1590917-1590918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs113614792	chr8:1590919-1590920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs539252364	chr8:1590933-1590934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369033277	chr8:1590934-1590935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535170113	chr8:1590942-1590943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs113055681	chr8:1590949-1590950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs138228409	chr8:1590965-1590966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs374995651	chr8:1590973-1590974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs145123460	chr8:1590996-1590997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs367922937	chr8:1591001-1591002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs371659379	chr8:1591002-1591003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375928943	chr8:1591004-1591005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs368996795	chr8:1591013-1591014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs77863436	chr8:1591035-1591036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs377180253	chr8:1591070-1591071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs76280251	chr8:1591168-1591169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs369642878	chr8:1591187-1591188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374024947	chr8:1591188-1591189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs2469735	chr8:1591193-1591194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs377633060	chr8:1591199-1591200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs370848286	chr8:1591221-1591222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs71499030	chr8:1591230-1591231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs71518076	chr8:1591249-1591250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs71518077	chr8:1591252-1591253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs78187449	chr8:1591280-1591281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs377077292	chr8:1591292-1591293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370077200	chr8:1591312-1591313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs71270472	chr8:1591343-1591344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374541932	chr8:1591345-1591346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535670334	chr8:1591373-1591374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555499963	chr8:1591376-1591377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368553191	chr8:1591404-1591405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs71518079	chr8:1591407-1591408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs56412470	chr8:1591412-1591413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs370795550	chr8:1591414-1591415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs71499032	chr8:1591416-1591417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374387148	chr8:1591447-1591448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs538531381	chr8:1591469-1591470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557511383	chr8:1591473-1591474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs74360602	chr8:1591497-1591498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs76388992	chr8:1591498-1591499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs577553368	chr8:1591513-1591514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368310155	chr8:1591528-1591529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs71499033	chr8:1591540-1591541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs71183716	chr8:1591571-1591572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs79327903	chr8:1591590-1591591	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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