Variant report

Variant	nsv963606
Chromosome Location	chr4:69256970-69259014
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370266009	chr4:69256989-69256990	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs540920913	chr4:69257029-69257030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187148052	chr4:69257038-69257039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs368557117	chr4:69257064-69257065	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs144043083	chr4:69257120-69257121	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542625099	chr4:69257197-69257198	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562612782	chr4:69257214-69257215	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531835444	chr4:69257261-69257262	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs551247157	chr4:69257281-69257282	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs377031159	chr4:69257289-69257290	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533835892	chr4:69257326-69257327	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs1919901	chr4:69257421-69257422	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs1919902	chr4:69257453-69257454	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs191996889	chr4:69257470-69257471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs536521808	chr4:69257492-69257493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs183039950	chr4:69257586-69257587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs376872184	chr4:69257638-69257639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs536226077	chr4:69257651-69257652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs556200558	chr4:69257668-69257669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs569613471	chr4:69257685-69257686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs538718844	chr4:69257686-69257687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs558416683	chr4:69257772-69257773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs150159485	chr4:69257863-69257864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs188726226	chr4:69257890-69257891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs193261085	chr4:69257977-69257978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs574013894	chr4:69257980-69257981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs575965769	chr4:69257984-69257985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs542565470	chr4:69258019-69258020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs562552077	chr4:69258046-69258047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs145653971	chr4:69258087-69258088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs541614787	chr4:69258110-69258111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs545479792	chr4:69258140-69258141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs368151297	chr4:69258177-69258178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs527448180	chr4:69258190-69258191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs184117048	chr4:69258201-69258202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs561119995	chr4:69258230-69258231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs550843212	chr4:69258248-69258249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs189527810	chr4:69258257-69258258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs541476379	chr4:69258298-69258299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs550142645	chr4:69258325-69258326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs75280783	chr4:69258344-69258345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs191569839	chr4:69258379-69258380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs552231680	chr4:69258492-69258493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs146994652	chr4:69258504-69258505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs71598068	chr4:69258509-69258510	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs370395766	chr4:69258583-69258584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs374071573	chr4:69258616-69258617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs529929611	chr4:69258666-69258667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553945602	chr4:69258667-69258668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs376213940	chr4:69258746-69258747	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
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
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Graft versus host disease	20877625	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Osteoporosis	20877625	CNVD
Osteoporosis	19737800	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Glioblastoma multiforme	21138945	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Oral cancer	21386901	CNVD
Alcoholism	21790672	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Schizophrenia	20967226	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:69253400-69258000	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr4:69254000-69257400	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr4:69254200-69257400	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr4:69254200-69257400	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr4:69254600-69258600	Enhancers	Fetal Lung	lung
6	chr4:69255200-69258200	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr4:69255600-69260600	Weak transcription	Fetal Intestine Small	intestine
8	chr4:69255800-69257400	Enhancers	H1 Cell Line	embryonic stem cell
9	chr4:69255800-69270200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr4:69256200-69260200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr4:69256400-69261600	Weak transcription	Fetal Intestine Large	intestine
12	chr4:69256600-69257400	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr4:69256600-69257400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr4:69256600-69260000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr4:69257400-69263800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr4:69257400-69272000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr4:69258000-69269200	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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