Variant report

Variant	nsv595354
Chromosome Location	chr4:122287080-122289863
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 90 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:90 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184666537	chr4:122287098-122287099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs72917781	chr4:122287249-122287250	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs575268778	chr4:122287253-122287254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189450026	chr4:122287312-122287313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs573853963	chr4:122287313-122287314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs73845782	chr4:122287371-122287372	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs181456942	chr4:122287379-122287380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575214632	chr4:122287381-122287382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544348430	chr4:122287417-122287418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs139442684	chr4:122287424-122287425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs185359927	chr4:122287473-122287474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540473929	chr4:122287519-122287520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546041912	chr4:122287571-122287572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560708717	chr4:122287687-122287688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs201078570	chr4:122287710-122287711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs398092758	chr4:122287712-122287713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs558362535	chr4:122287718-122287719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs112963979	chr4:122287755-122287756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs76503879	chr4:122287794-122287795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs531329006	chr4:122287804-122287805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs551540831	chr4:122287894-122287895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs571263799	chr4:122287911-122287912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs527330609	chr4:122287957-122287958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs542268670	chr4:122287987-122287988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs547292962	chr4:122288002-122288003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs540969669	chr4:122288049-122288050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs11384022	chr4:122288065-122288066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs398092759	chr4:122288066-122288067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs78504501	chr4:122288067-122288068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs567418012	chr4:122288071-122288072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs374582424	chr4:122288078-122288079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs115036348	chr4:122288081-122288082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs556038472	chr4:122288088-122288089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs568953484	chr4:122288139-122288140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs6813974	chr4:122288144-122288145	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs145952356	chr4:122288150-122288151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs139812535	chr4:122288194-122288195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs540688934	chr4:122288253-122288254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs6839915	chr4:122288267-122288268	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs189424240	chr4:122288281-122288282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs72917782	chr4:122288292-122288293	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs143114234	chr4:122288312-122288313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs181393360	chr4:122288338-122288339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs547709288	chr4:122288341-122288342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs151171352	chr4:122288378-122288379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs531867752	chr4:122288381-122288382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs551563229	chr4:122288383-122288384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs186532324	chr4:122288409-122288410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs564325343	chr4:122288462-122288463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs533168297	chr4:122288495-122288496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	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
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
small cell lung cancer	20016488	CNVD
Clear cell renal cell carcinoma	18791270	CNVD
Acute myeloid leukemia	19651601	CNVD
Gastric cancer	16891809	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:122282200-122294000	Weak transcription	HMEC	breast
2	chr4:122282200-122295600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:122287600-122288400	Enhancers	Left Ventricle	heart

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