Variant report

Variant	nsv980253
Chromosome Location	chr4:120298506-120312899
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530695981	chr4:120311406-120311407	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs575218956	chr4:120311407-120311408	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs113224532	chr4:120311412-120311413	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181240052	chr4:120311413-120311414	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs576644791	chr4:120311426-120311427	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs111632183	chr4:120311427-120311428	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs149137578	chr4:120311435-120311436	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs185470104	chr4:120311459-120311460	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs542540434	chr4:120311479-120311480	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs542090530	chr4:120311514-120311515	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs561555755	chr4:120311522-120311523	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs10024844	chr4:120311528-120311529	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs189896037	chr4:120311531-120311532	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs182035197	chr4:120311540-120311541	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs139588707	chr4:120311583-120311584	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs202084743	chr4:120311597-120311598	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs533568717	chr4:120311641-120311642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs546922960	chr4:120311648-120311649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567045977	chr4:120311673-120311674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs535807803	chr4:120311674-120311675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186327415	chr4:120311688-120311689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs10025054	chr4:120311697-120311698	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs537816620	chr4:120311764-120311765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557841347	chr4:120311796-120311797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs138856926	chr4:120311866-120311867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs56300140	chr4:120311946-120311947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189937679	chr4:120311974-120311975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs142574448	chr4:120311982-120311983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs10027498	chr4:120311987-120311988	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs541777216	chr4:120311990-120311991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs13135496	chr4:120312050-120312051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186391693	chr4:120312094-120312095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs147243249	chr4:120312100-120312101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs10017271	chr4:120312146-120312147	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs62322287	chr4:120312172-120312173	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs191594663	chr4:120312184-120312185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs13111460	chr4:120312210-120312211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533102190	chr4:120312271-120312272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs13136119	chr4:120312321-120312322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546661469	chr4:120312332-120312333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370202242	chr4:120312382-120312383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs375752792	chr4:120312423-120312424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs142898379	chr4:120312428-120312429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs140831976	chr4:120312430-120312431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs567230024	chr4:120312431-120312432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs59413973	chr4:120312444-120312445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs10017536	chr4:120312458-120312459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs578219225	chr4:120312472-120312473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs28622207	chr4:120312520-120312521	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs529462340	chr4:120312528-120312529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120311400-120311600	ZNF genes & repeats	Pancreas	Pancrea
2	chr4:120311400-120311600	Enhancers	Spleen	Spleen
3	chr4:120311600-120318400	Weak transcription	Pancreas	Pancrea

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