Variant report

Variant	esv16597
Chromosome Location	chr8:63806089-63809086
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 99 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:99 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4329266	chr8:63806099-63806100	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs551361559	chr8:63806106-63806107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557177123	chr8:63806121-63806122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs144989944	chr8:63806132-63806133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546213287	chr8:63806167-63806168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs148052268	chr8:63806172-63806173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572722551	chr8:63806180-63806181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs71559382	chr8:63806203-63806204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs35807349	chr8:63806211-63806212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs200921352	chr8:63806221-63806222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs62512466	chr8:63806222-63806223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs9298067	chr8:63806223-63806224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs77606748	chr8:63806225-63806226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs201797037	chr8:63806229-63806230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs561727213	chr8:63806246-63806247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs529039366	chr8:63806247-63806248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs16929792	chr8:63806250-63806251	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs185866361	chr8:63806352-63806353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs533241959	chr8:63806357-63806358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs557059894	chr8:63806378-63806379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs573400498	chr8:63806382-63806383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs141793704	chr8:63806466-63806467	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs566783585	chr8:63806467-63806468	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs555555571	chr8:63806497-63806498	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs4368971	chr8:63806538-63806539	Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs546627271	chr8:63806549-63806550	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs76151090	chr8:63806586-63806587	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs35600170	chr8:63806590-63806591	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs36084686	chr8:63806616-63806617	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs369300804	chr8:63806651-63806652	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs138576010	chr8:63806658-63806659	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs550745122	chr8:63806719-63806720	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs541714397	chr8:63806720-63806721	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs142841302	chr8:63806729-63806730	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs4434615	chr8:63806777-63806778	Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs72655040	chr8:63806784-63806785	Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs35185265	chr8:63806787-63806788	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs573491124	chr8:63806812-63806813	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs190020433	chr8:63806871-63806872	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs200684677	chr8:63806880-63806881	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs573759035	chr8:63806892-63806893	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs13439827	chr8:63806906-63806907	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs544359551	chr8:63806913-63806914	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs201937869	chr8:63806936-63806937	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs181155169	chr8:63806976-63806977	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs139571525	chr8:63806981-63806982	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs4478566	chr8:63806992-63806993	Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs560175518	chr8:63806996-63806997	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs563797739	chr8:63806997-63806998	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs527624223	chr8:63807004-63807005	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
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
Salivary gland tumor	18059337	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
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	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
Melanoma	22183965	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Sezary syndrome	18413736	CNVD
Colorectal cancer	21645411	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:63803200-63806200	Weak transcription	GM12878-XiMat	blood
2	chr8:63806200-63806400	Enhancers	GM12878-XiMat	blood
3	chr8:63806400-63807400	Flanking Active TSS	GM12878-XiMat	blood
4	chr8:63807200-63808000	Enhancers	Primary B cells from peripheral blood	blood
5	chr8:63807400-63807600	Enhancers	GM12878-XiMat	blood

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