Variant report

Variant	esv3467129
Chromosome Location	chr4:60288774-60296363
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 274 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:274 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183583178	chr4:60288774-60288775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs555785021	chr4:60288781-60288782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs571000338	chr4:60288791-60288792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs538379767	chr4:60288815-60288816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs554321373	chr4:60288818-60288819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189494480	chr4:60288819-60288820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs192481498	chr4:60288827-60288828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs371679169	chr4:60288833-60288834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558661151	chr4:60288838-60288839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs143468646	chr4:60288839-60288840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561228010	chr4:60288844-60288845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs62305739	chr4:60288870-60288871	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs184537707	chr4:60288872-60288873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532638599	chr4:60288877-60288878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541197992	chr4:60288906-60288907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560269411	chr4:60288922-60288923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs188982934	chr4:60288930-60288931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547091448	chr4:60288940-60288941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549210851	chr4:60288942-60288943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571814423	chr4:60288963-60288964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567218204	chr4:60288967-60288968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs531539026	chr4:60288970-60288971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549349114	chr4:60288992-60288993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs570939100	chr4:60289003-60289004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538698243	chr4:60289004-60289005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553602395	chr4:60289016-60289017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs566223856	chr4:60289027-60289028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538814708	chr4:60289032-60289033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372038123	chr4:60289036-60289037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555193050	chr4:60289041-60289042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576802340	chr4:60289045-60289046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532375669	chr4:60289048-60289049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550459263	chr4:60289056-60289057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544163879	chr4:60289071-60289072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376703963	chr4:60289077-60289078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs569058183	chr4:60289092-60289093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370042680	chr4:60289094-60289095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371663699	chr4:60289121-60289122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548609951	chr4:60289122-60289123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs111492665	chr4:60289126-60289127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs536124769	chr4:60289129-60289130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181526475	chr4:60289136-60289137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542445990	chr4:60289139-60289140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560782901	chr4:60289155-60289156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374974488	chr4:60289185-60289186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549685875	chr4:60289199-60289200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs144850160	chr4:60289209-60289210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs532021800	chr4:60289228-60289229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547422660	chr4:60289253-60289254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs566478389	chr4:60289260-60289261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
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
Non-small cell lung cancer	21829676	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	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
Multiple myeloma	16616336	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
Colorectal cancer	16272173	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	20369283	CNVD
early-passage human iPS cells	21368824	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:60286200-60293000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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