Variant report

Variant	esv3352343
Chromosome Location	chr8:52398349-52400547
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114429699	chr8:52398357-52398358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs560158460	chr8:52398380-52398381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs565905158	chr8:52398417-52398418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572057136	chr8:52398457-52398458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs150458069	chr8:52398458-52398459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564015769	chr8:52398470-52398471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189393218	chr8:52398481-52398482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550848678	chr8:52398485-52398486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563116355	chr8:52398509-52398510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs79319948	chr8:52398521-52398522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs115338840	chr8:52398552-52398553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566850232	chr8:52398560-52398561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533930292	chr8:52398583-52398584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138384493	chr8:52398600-52398601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113205351	chr8:52398604-52398605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538342225	chr8:52398613-52398614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs79592796	chr8:52398694-52398695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191530319	chr8:52398710-52398711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs369286978	chr8:52398721-52398722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs143080703	chr8:52398740-52398741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111967309	chr8:52398765-52398766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs183677079	chr8:52398823-52398824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545774959	chr8:52398843-52398844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564111764	chr8:52398856-52398857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs34524511	chr8:52398942-52398943	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs145155675	chr8:52398968-52398969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188721307	chr8:52399018-52399019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530208744	chr8:52399044-52399045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548419401	chr8:52399080-52399081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571459112	chr8:52399165-52399166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs13271514	chr8:52399179-52399180	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs137906693	chr8:52399264-52399265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375927886	chr8:52399289-52399290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181107664	chr8:52399312-52399313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs10109883	chr8:52399322-52399323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs13273146	chr8:52399352-52399353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10109968	chr8:52399354-52399355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs552244802	chr8:52399356-52399357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs570846832	chr8:52399358-52399359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547908182	chr8:52399447-52399448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537918559	chr8:52399485-52399486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550234047	chr8:52399499-52399500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568598276	chr8:52399500-52399501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs13277264	chr8:52399512-52399513	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs190409937	chr8:52399563-52399564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs373350064	chr8:52399576-52399577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539741391	chr8:52399586-52399587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs557431431	chr8:52399589-52399590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561984601	chr8:52399604-52399605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181677608	chr8:52399624-52399625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	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
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	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
Glioblastoma multiforme	22286061	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
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52374600-52411200	Weak transcription	Left Ventricle	heart
2	chr8:52393200-52404400	Weak transcription	Right Ventricle	heart
3	chr8:52397400-52404000	Weak transcription	Right Atrium	heart
4	chr8:52399800-52401000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr8:52400200-52400600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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