Variant report

Variant	esv3491869
Chromosome Location	chr4:132489252-132494750
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 100 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534059979	chr4:132489310-132489311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs183774526	chr4:132489326-132489327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187862061	chr4:132489351-132489352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs545525649	chr4:132489352-132489353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565369105	chr4:132489402-132489403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs148155169	chr4:132489408-132489409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141634155	chr4:132489483-132489484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs72943245	chr4:132489497-132489498	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs530446897	chr4:132489550-132489551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs62318269	chr4:132489555-132489556	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs565345980	chr4:132489563-132489564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566401839	chr4:132489578-132489579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534309745	chr4:132489623-132489624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181168	chr4:132489639-132489640	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs368442299	chr4:132489712-132489713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570990434	chr4:132489717-132489718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs150372011	chr4:132489723-132489724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536885509	chr4:132489728-132489729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576353679	chr4:132489734-132489735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557137541	chr4:132489749-132489750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573724214	chr4:132489799-132489800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs539287825	chr4:132489808-132489809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs28487999	chr4:132489815-132489816	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs62318270	chr4:132489821-132489822	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs572579691	chr4:132489832-132489833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545416895	chr4:132489837-132489838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565405933	chr4:132489851-132489852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575792998	chr4:132489923-132489924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544352786	chr4:132489968-132489969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150500698	chr4:132490002-132490003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191826877	chr4:132490009-132490010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576512165	chr4:132490024-132490025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183621996	chr4:132490065-132490066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs79159732	chr4:132490127-132490128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560412775	chr4:132490133-132490134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540817221	chr4:132490141-132490142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554192364	chr4:132490155-132490156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572597533	chr4:132490157-132490158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560956900	chr4:132490159-132490160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs76056841	chr4:132490192-132490193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570878039	chr4:132490199-132490200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs537169024	chr4:132490204-132490205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543445087	chr4:132490239-132490240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188308742	chr4:132490246-132490247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs567460912	chr4:132490294-132490295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs114029594	chr4:132490315-132490316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs74840431	chr4:132490325-132490326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191612802	chr4:132490329-132490330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs146210326	chr4:132490356-132490357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184886200	chr4:132490372-132490373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Mental retardation	17847001	CNVD
Myelofibrosis	22110671	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Mental retardation	17901693	CNVD
small cell lung cancer	20016488	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:132487800-132491600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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