Variant report

Variant	esv3392987
Chromosome Location	chr8:52030157-52031928
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540792525	chr8:52030170-52030171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs564845843	chr8:52030174-52030175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs35482560	chr8:52030179-52030180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs28612111	chr8:52030181-52030182	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs550677033	chr8:52030183-52030184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs28499187	chr8:52030184-52030185	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs67401108	chr8:52030231-52030232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184910560	chr8:52030238-52030239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs376417791	chr8:52030243-52030244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs67449945	chr8:52030255-52030256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548504208	chr8:52030284-52030285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566727789	chr8:52030291-52030292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533761104	chr8:52030341-52030342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552381148	chr8:52030355-52030356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570531832	chr8:52030365-52030366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538793222	chr8:52030369-52030370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557025731	chr8:52030376-52030377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575243199	chr8:52030385-52030386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs28391242	chr8:52030416-52030417	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs554985767	chr8:52030440-52030441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs568092522	chr8:52030453-52030454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540555757	chr8:52030454-52030455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113072559	chr8:52030456-52030457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577512240	chr8:52030466-52030467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191035215	chr8:52030507-52030508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs33918947	chr8:52030538-52030539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs397831007	chr8:52030545-52030546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542426312	chr8:52030554-52030555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs35109153	chr8:52030576-52030577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372346826	chr8:52030586-52030587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs16915786	chr8:52030639-52030640	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs16915788	chr8:52030720-52030721	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs559876368	chr8:52030721-52030722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs527611334	chr8:52030754-52030755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs113545103	chr8:52030766-52030767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554969299	chr8:52030768-52030769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs386725251	chr8:52030770-52030771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570353337	chr8:52030771-52030772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537608681	chr8:52030774-52030775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371292410	chr8:52030792-52030793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs2045249	chr8:52030819-52030820	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs181164559	chr8:52030838-52030839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565161471	chr8:52030842-52030843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536264663	chr8:52030851-52030852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186611504	chr8:52030862-52030863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs554982976	chr8:52030959-52030960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573135207	chr8:52030990-52030991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs7014100	chr8:52030999-52031000	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs577738500	chr8:52031010-52031011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs544883212	chr8:52031049-52031050	Weak transcription	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
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
Pancreatic ductal adenocarcinoma	19077451	CNVD
22q11 deletion syndrome	20357662	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52029200-52030200	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr8:52030200-52035000	Weak transcription	Pancreatic Islets	Pancreatic Islet

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