Variant report

Variant	esv3481409
Chromosome Location	chr8:59601399-59602646
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 87 )

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	rs529018482	chr8:59601411-59601412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs74582356	chr8:59601414-59601415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530079636	chr8:59601434-59601435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549328558	chr8:59601451-59601452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs73684357	chr8:59601517-59601518	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs184789278	chr8:59601525-59601526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs1387221	chr8:59601557-59601558	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs535714914	chr8:59601561-59601562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs377725982	chr8:59601624-59601625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs190039360	chr8:59601709-59601710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs568581415	chr8:59601789-59601790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs537523245	chr8:59601799-59601800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs147654108	chr8:59601925-59601926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs74968723	chr8:59601934-59601935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs537032035	chr8:59601970-59601971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs375503456	chr8:59602011-59602012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs539897149	chr8:59602037-59602038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs553586484	chr8:59602089-59602090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs368082041	chr8:59602094-59602095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs573469576	chr8:59602150-59602151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs72647473	chr8:59602161-59602162	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs565856004	chr8:59602167-59602168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs531156887	chr8:59602193-59602194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs377405143	chr8:59602194-59602195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs544708111	chr8:59602203-59602204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs192129050	chr8:59602213-59602214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530054798	chr8:59602238-59602239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184677492	chr8:59602245-59602246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189393021	chr8:59602246-59602247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181979403	chr8:59602249-59602250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185166227	chr8:59602267-59602268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs552078372	chr8:59602309-59602310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs4738702	chr8:59602331-59602332	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs537692408	chr8:59602346-59602347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547879557	chr8:59602368-59602369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568067088	chr8:59602391-59602392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376022744	chr8:59602456-59602457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189201422	chr8:59602516-59602517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553504470	chr8:59602524-59602525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181093571	chr8:59602530-59602531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186331773	chr8:59602534-59602535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs559332952	chr8:59602549-59602550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs149031099	chr8:59602561-59602562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544822009	chr8:59602585-59602586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs561391746	chr8:59602592-59602593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs574849613	chr8:59602597-59602598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540590573	chr8:59602607-59602608	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs143006521	chr8:59602615-59602616	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs532402953	chr8:59602639-59602640	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	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
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Colorectal cancer	21645411	CNVD
Melanoma	22183965	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59588200-59601600	Weak transcription	K562	blood
2	chr8:59600600-59601400	Enhancers	Fetal Intestine Small	intestine
3	chr8:59601600-59602200	Enhancers	K562	blood
4	chr8:59602200-59602600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr8:59602600-59603200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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