Variant report

Variant	nsv292516
Chromosome Location	chr4:53628732-53634129
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138831754	chr4:53630401-53630402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs369370875	chr4:53630402-53630403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs554377339	chr4:53630466-53630467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs577526727	chr4:53630516-53630517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs544967940	chr4:53630543-53630544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs57507167	chr4:53630581-53630582	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs28454903	chr4:53630590-53630591	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs372725715	chr4:53633045-53633046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs549269942	chr4:53633058-53633059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs559543295	chr4:53633091-53633092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs538522878	chr4:53633115-53633116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs527351291	chr4:53633118-53633119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs182449973	chr4:53633125-53633126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs558183427	chr4:53633214-53633215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs12186225	chr4:53633228-53633229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs150405954	chr4:53633230-53633231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs138185138	chr4:53633327-53633328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs34197749	chr4:53633337-53633338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs149169963	chr4:53633365-53633366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs569807340	chr4:53633368-53633369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs187018740	chr4:53633443-53633444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs535551842	chr4:53633457-53633458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs145914365	chr4:53633478-53633479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs138861301	chr4:53633541-53633542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs535107951	chr4:53633553-53633554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs189864513	chr4:53633557-53633558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs182491825	chr4:53633601-53633602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs543494354	chr4:53633604-53633605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs185283130	chr4:53633608-53633609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs142867481	chr4:53633634-53633635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs576312601	chr4:53633655-53633656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs367546880	chr4:53633670-53633671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs574206025	chr4:53633733-53633734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs118133346	chr4:53633737-53633738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs77409146	chr4:53633746-53633747	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Hodgkin''s lymphoma	17606441	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	22183965	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Renal cell carcinoma	18194544	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
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	19435819	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
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
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian neoplasms	16753589	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	21569311	CNVD
Glioblastoma	17504929	CNVD
Glioblastoma	16823502	CNVD
Melanoma	16908931	CNVD
Glioblastoma	20031968	CNVD
Medulloblastoma	19270706	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Olfactory neuroblastoma	18408657	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Rhabdomyosarcoma	16790082	CNVD
Gastrointestinal stromal cancer	17438095	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	19208797	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Glioblastoma multiforme	21525872	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:53630400-53630600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr4:53633000-53633800	Enhancers	H9 Cell Line	embryonic stem cell
3	chr4:53633000-53633800	Enhancers	HUES48 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links