Variant report

Variant	esv3499555
Chromosome Location	chr4:92659465-92661082
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542219913	chr4:92659689-92659690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs111523906	chr4:92659699-92659700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs35405666	chr4:92659714-92659715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539106372	chr4:92659732-92659733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs528346660	chr4:92659748-92659749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs6840776	chr4:92659754-92659755	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs576099854	chr4:92659764-92659765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs151189768	chr4:92659768-92659769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565363742	chr4:92659827-92659828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572697930	chr4:92659828-92659829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541709236	chr4:92659840-92659841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185286888	chr4:92659882-92659883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563248423	chr4:92660006-92660007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530068459	chr4:92660022-92660023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112467010	chr4:92660050-92660051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552184500	chr4:92660070-92660071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563793968	chr4:92660074-92660075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs115512887	chr4:92660076-92660077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552662628	chr4:92660081-92660082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190544047	chr4:92660089-92660090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181421553	chr4:92660100-92660101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs149801861	chr4:92660134-92660135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551056631	chr4:92660139-92660140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547243166	chr4:92660153-92660154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs145745707	chr4:92660179-92660180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs111263681	chr4:92660217-92660218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555671568	chr4:92660244-92660245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs35589321	chr4:92660246-92660247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs143468060	chr4:92660257-92660258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573582035	chr4:92660262-92660263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs536236739	chr4:92660290-92660291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs148929291	chr4:92660339-92660340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576068257	chr4:92660343-92660344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538325146	chr4:92660367-92660368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558697912	chr4:92660386-92660387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113823666	chr4:92660408-92660409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541644786	chr4:92660454-92660455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186362399	chr4:92660477-92660478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs147034375	chr4:92660480-92660481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs543784550	chr4:92660573-92660574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs191894484	chr4:92660577-92660578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182992124	chr4:92660580-92660581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs6821675	chr4:92660598-92660599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559425053	chr4:92660650-92660651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs147757981	chr4:92660659-92660660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547232762	chr4:92660745-92660746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs567209885	chr4:92660780-92660781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536185011	chr4:92660834-92660835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550068463	chr4:92660857-92660858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187582839	chr4:92660863-92660864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
Acute monocytic leukemia	16498392	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Parkinson disease	20877625	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Obesity	20622171	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Esophageal cancer	21851588	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:92659600-92662000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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