Variant report

Variant	esv3479303
Chromosome Location	chr8:58412310-58413987
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543643452	chr8:58412326-58412327	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs563429983	chr8:58412349-58412350	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142380910	chr8:58412368-58412369	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs548363206	chr8:58412406-58412407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562188493	chr8:58412421-58412422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs527717872	chr8:58412473-58412474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs547759460	chr8:58412486-58412487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569531287	chr8:58412533-58412534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs376192747	chr8:58412550-58412551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs368629050	chr8:58412572-58412573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539697779	chr8:58412573-58412574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs183667099	chr8:58412590-58412591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs73682389	chr8:58412603-58412604	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs535561498	chr8:58412611-58412612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs151300438	chr8:58412636-58412637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs76089667	chr8:58412648-58412649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs67526608	chr8:58412711-58412712	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs78873501	chr8:58412753-58412754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs16922257	chr8:58412757-58412758	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs74407917	chr8:58412761-58412762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557212460	chr8:58412788-58412789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556561576	chr8:58412811-58412812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573908999	chr8:58412941-58412942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189508080	chr8:58412971-58412972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559631445	chr8:58412974-58412975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562081501	chr8:58412975-58412976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs527781781	chr8:58412993-58412994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541070774	chr8:58413048-58413049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538521328	chr8:58413082-58413083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs6987326	chr8:58413107-58413108	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs533463381	chr8:58413119-58413120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550035070	chr8:58413162-58413163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs568609290	chr8:58413190-58413191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568804417	chr8:58413288-58413289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs76114332	chr8:58413293-58413294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs115466449	chr8:58413298-58413299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576855087	chr8:58413305-58413306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549548247	chr8:58413314-58413315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs117686937	chr8:58413321-58413322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534671088	chr8:58413323-58413324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182211121	chr8:58413325-58413326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs147753082	chr8:58413326-58413327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537020501	chr8:58413334-58413335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557326602	chr8:58413344-58413345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs76449935	chr8:58413354-58413355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs74950239	chr8:58413376-58413377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186977326	chr8:58413386-58413387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs78130614	chr8:58413405-58413406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs398095805	chr8:58413406-58413407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572457132	chr8:58413431-58413432	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
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	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:58407000-58418000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr8:58409400-58414800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr8:58411400-58412400	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr8:58413600-58423200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr8:58413800-58415200	Enhancers	HSMMtube	muscle

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