Variant report

Variant	nsv822559
Chromosome Location	chr4:53338228-53344025
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:53338249..53340211-chr4:53343621..53345963,2	K562	blood:
2	chr4:53338249..53340211-chr4:53343621..53345963,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 88 )

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	rs368979116	chr4:53343210-53343211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs556527184	chr4:53343218-53343219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs138432355	chr4:53343251-53343252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs537577245	chr4:53343260-53343261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs554114813	chr4:53343274-53343275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191998291	chr4:53343312-53343313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs540095236	chr4:53343314-53343315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs35861844	chr4:53343337-53343338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs560017650	chr4:53343415-53343416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs149280911	chr4:53343424-53343425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs530497954	chr4:53343455-53343456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs545967139	chr4:53343497-53343498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs562573608	chr4:53343538-53343539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs144504946	chr4:53343553-53343554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs548724926	chr4:53343554-53343555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs184595704	chr4:53343600-53343601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs527697098	chr4:53343645-53343646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs548064801	chr4:53343663-53343664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs115574921	chr4:53343669-53343670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs539786127	chr4:53343674-53343675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs187785162	chr4:53343685-53343686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs192612835	chr4:53343698-53343699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs555026469	chr4:53343706-53343707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs112473961	chr4:53343719-53343720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs376433973	chr4:53343731-53343732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs184295081	chr4:53343749-53343750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs113990684	chr4:53343750-53343751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs566038260	chr4:53343843-53343844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs13127085	chr4:53343848-53343849	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs577049175	chr4:53343864-53343865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs181273410	chr4:53343888-53343889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs562677824	chr4:53343900-53343901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs184685540	chr4:53343913-53343914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs188575410	chr4:53343920-53343921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs542305236	chr4:53343921-53343922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs562168845	chr4:53343925-53343926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs527836222	chr4:53343945-53343946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs200164262	chr4:53343947-53343948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs181405878	chr4:53344010-53344011	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Wilms tumour	21544195	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
small cell lung cancer	20016488	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
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:53343200-53344200	Enhancers	Cortex derived primary cultured neurospheres	brain

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