Variant report

Variant	nsv967295
Chromosome Location	chr4:63257265-63261479
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543412151	chr4:63260430-63260431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs542538300	chr4:63260501-63260502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs116830916	chr4:63260542-63260543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs139472651	chr4:63260544-63260545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs560725604	chr4:63260629-63260630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs556819228	chr4:63260669-63260670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs541123422	chr4:63260683-63260684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs114565988	chr4:63260692-63260693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs374702357	chr4:63260737-63260738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs561658669	chr4:63260738-63260739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs527868191	chr4:63260739-63260740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs5858761	chr4:63260744-63260745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs186287034	chr4:63260753-63260754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs76224277	chr4:63260769-63260770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs531904533	chr4:63260811-63260812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs549730649	chr4:63260822-63260823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs571627967	chr4:63260843-63260844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs35167504	chr4:63260848-63260849	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs547868249	chr4:63260849-63260850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs545245925	chr4:63260871-63260872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs566083681	chr4:63260900-63260901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs190748871	chr4:63260979-63260980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs1564224	chr4:63260992-63260993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs142769772	chr4:63260999-63261000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs537352659	chr4:63261029-63261030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs558220255	chr4:63261063-63261064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs576768762	chr4:63261115-63261116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs540709911	chr4:63261130-63261131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs553018488	chr4:63261139-63261140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs146091061	chr4:63261157-63261158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs115771312	chr4:63261175-63261176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs778945	chr4:63261213-63261214	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs116345546	chr4:63261253-63261254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs148755240	chr4:63261269-63261270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565488864	chr4:63261285-63261286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532530020	chr4:63261295-63261296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182270062	chr4:63261305-63261306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187685442	chr4:63261369-63261370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530230903	chr4:63261443-63261444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	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
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:63260400-63261000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr4:63260400-63261200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr4:63260800-63261200	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr4:63260800-63261200	Enhancers	Primary hematopoietic stem cells	blood
5	chr4:63260800-63261200	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr4:63261200-63263600	Weak transcription	Primary hematopoietic stem cells	blood

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