Variant report

Variant	nsv966477
Chromosome Location	chr4:81488950-81499589
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:81489877..81492717-chr4:81494279..81495891,2	K562	blood:
2	chr4:81489877..81492717-chr4:81494279..81495891,2	K562	blood:
3	chr4:81499228..81501687-chr4:81505021..81507173,2	K562	blood:

Extended variants
information (count: 227 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:227 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112254967	chr4:81488968-81488969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs143983320	chr4:81488997-81488998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs6535016	chr4:81489079-81489080	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs575673556	chr4:81489273-81489274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs144310082	chr4:81489298-81489299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555028252	chr4:81489357-81489358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185391164	chr4:81489375-81489376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs34309642	chr4:81489383-81489384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs397994197	chr4:81489389-81489390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs534849740	chr4:81489426-81489427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555531944	chr4:81489443-81489444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373802706	chr4:81489458-81489459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574886039	chr4:81489499-81489500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs148319229	chr4:81489586-81489587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545458924	chr4:81489596-81489597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190068315	chr4:81489617-81489618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181647458	chr4:81489667-81489668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540701161	chr4:81489670-81489671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187208882	chr4:81489707-81489708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs141432527	chr4:81489727-81489728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs527543924	chr4:81489759-81489760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs547380152	chr4:81489878-81489879	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs111364549	chr4:81489922-81489923	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189133507	chr4:81489939-81489940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539270189	chr4:81489976-81489977	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs11733793	chr4:81489991-81489992	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs181007278	chr4:81489999-81490000	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1486029	chr4:81490060-81490061	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs11733858	chr4:81490166-81490167	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs554993427	chr4:81490168-81490169	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574750565	chr4:81490200-81490201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs139482783	chr4:81490230-81490231	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs143486009	chr4:81490265-81490266	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577500689	chr4:81490294-81490295	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545965811	chr4:81490338-81490339	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7678081	chr4:81490377-81490378	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs532718396	chr4:81490422-81490423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs377609623	chr4:81490427-81490428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531300214	chr4:81490466-81490467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563127952	chr4:81490515-81490516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374546413	chr4:81490599-81490600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112448966	chr4:81490628-81490629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531941709	chr4:81490642-81490643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs377546829	chr4:81490645-81490646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs28493682	chr4:81490656-81490657	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs547634026	chr4:81490671-81490672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185026739	chr4:81490680-81490681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375675367	chr4:81490686-81490687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs367984990	chr4:81490691-81490692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562305161	chr4:81490755-81490756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
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
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	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
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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
primary effusion lymphomas	17116491	CNVD
Gastric cancer	16891809	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Myelodysplastic syndrome	18508791	CNVD
abnormal development	18461090	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:81488400-81494800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr4:81489800-81490200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:81490000-81490400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr4:81490000-81490400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr4:81490000-81490400	Enhancers	Gastric	stomach
6	chr4:81494800-81495000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr4:81499000-81501000	Enhancers	Fetal Kidney	kidney

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