Variant report

Variant	esv3341182
Chromosome Location	chr8:63712447-63734873
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 317 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:317 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575256249	chr8:63712474-63712475	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs111302125	chr8:63712529-63712530	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs115507829	chr8:63712533-63712534	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs200736050	chr8:63712539-63712540	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs183780511	chr8:63712565-63712566	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs117489135	chr8:63712566-63712567	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs188034338	chr8:63712567-63712568	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs183612781	chr8:63713006-63713007	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs556707888	chr8:63713035-63713036	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs564188998	chr8:63713038-63713039	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs141535766	chr8:63713040-63713041	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs571839006	chr8:63713041-63713042	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs374929045	chr8:63713055-63713056	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs539213383	chr8:63713080-63713081	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs147272370	chr8:63713117-63713118	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs118089187	chr8:63713143-63713144	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs531788004	chr8:63713144-63713145	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs543350982	chr8:63713153-63713154	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs140857063	chr8:63713154-63713155	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs575998755	chr8:63713179-63713180	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs543079160	chr8:63713182-63713183	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs564660271	chr8:63713209-63713210	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs147877066	chr8:63713247-63713248	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs540813735	chr8:63713248-63713249	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs567894546	chr8:63713256-63713257	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs199614506	chr8:63713267-63713268	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs187252713	chr8:63713287-63713288	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs527616896	chr8:63713288-63713289	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs548472962	chr8:63713333-63713334	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs567515566	chr8:63713339-63713340	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs531749851	chr8:63713342-63713343	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs191672790	chr8:63713347-63713348	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs539031697	chr8:63713350-63713351	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs571753464	chr8:63713351-63713352	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs539174573	chr8:63713356-63713357	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs368992017	chr8:63713368-63713369	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs566267616	chr8:63713399-63713400	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs149103846	chr8:63713405-63713406	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs10086944	chr8:63713441-63713442	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs57259426	chr8:63713492-63713493	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs151230632	chr8:63713524-63713525	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs369866577	chr8:63713538-63713539	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs189911043	chr8:63713539-63713540	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs56946009	chr8:63713550-63713551	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs60781553	chr8:63713552-63713553	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs529913950	chr8:63713556-63713557	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs12675032	chr8:63713564-63713565	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs12679111	chr8:63713565-63713566	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs530860837	chr8:63713593-63713594	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs34402019	chr8:63726059-63726060	ZNF genes & repeats	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	chr8:63712200-63712600	Active TSS	Fetal Heart	heart
2	chr8:63713000-63713600	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr8:63726000-63726800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
4	chr8:63726800-63731400	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr8:63733200-63733600	Enhancers	Brain Germinal Matrix	brain

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