Variant report

Variant	nsv968064
Chromosome Location	chr4:62554545-62557658
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 93 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs578065999	chr4:62554557-62554558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs566889973	chr4:62554558-62554559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538623745	chr4:62554562-62554563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs75737225	chr4:62554628-62554629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572500527	chr4:62554649-62554650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs75889564	chr4:62554651-62554652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs534339048	chr4:62554718-62554719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191323672	chr4:62554786-62554787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs34046781	chr4:62554839-62554840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576513068	chr4:62554870-62554871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544015710	chr4:62554871-62554872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564793160	chr4:62554933-62554934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs80097606	chr4:62554951-62554952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs145017806	chr4:62554963-62554964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183190560	chr4:62554978-62554979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs529679591	chr4:62555210-62555211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs548040062	chr4:62555221-62555222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569938175	chr4:62555227-62555228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530593633	chr4:62555235-62555236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188470764	chr4:62555297-62555298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs193047466	chr4:62555427-62555428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184959396	chr4:62555471-62555472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs138866084	chr4:62555492-62555493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566071081	chr4:62555572-62555573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs17090535	chr4:62555587-62555588	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs555271626	chr4:62555662-62555663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552578818	chr4:62555666-62555667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs576688866	chr4:62555671-62555672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572389116	chr4:62555672-62555673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs73825923	chr4:62555687-62555688	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs546518792	chr4:62555715-62555716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559085900	chr4:62555717-62555718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs7687302	chr4:62555727-62555728	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs540713134	chr4:62555736-62555737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188067122	chr4:62555767-62555768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs576585108	chr4:62555768-62555769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529593938	chr4:62555802-62555803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192481030	chr4:62555803-62555804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374416957	chr4:62555829-62555830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs76364664	chr4:62555841-62555842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs148965040	chr4:62555898-62555899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs552220129	chr4:62555924-62555925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs143740445	chr4:62555933-62555934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs79818117	chr4:62555981-62555982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547872543	chr4:62555989-62555990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs148140555	chr4:62556049-62556050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs141986358	chr4:62556076-62556077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183913776	chr4:62556095-62556096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs543512902	chr4:62556108-62556109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs537743575	chr4:62556109-62556110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
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
Anaplastic thyroid cancer	18753363	CNVD
Cancer	20164919	CNVD
Lung cancer	20668451	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	22522925	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:62549200-62560400	Weak transcription	Fetal Stomach	stomach
2	chr4:62552600-62556600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr4:62556800-62557200	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr4:62556800-62557600	Enhancers	HUES48 Cell Line	embryonic stem cell

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