Variant report

Variant	nsv980447
Chromosome Location	chr4:56615792-56619842
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	chr4:56613502..56615482-chr4:56616796..56619425,2	K562	blood:
2	chr4:56609301..56611255-chr4:56614835..56616393,2	MCF-7	breast:

Extended variants
information (count: 161 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:161 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6824357	chr4:56615809-56615810	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs527948737	chr4:56615825-56615826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541327154	chr4:56615861-56615862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs564659233	chr4:56616048-56616049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533354817	chr4:56616089-56616090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557432996	chr4:56616137-56616138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs192901462	chr4:56616149-56616150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs34700457	chr4:56616185-56616186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569632085	chr4:56616190-56616191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs13149117	chr4:56616264-56616265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543003234	chr4:56616291-56616292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529033213	chr4:56616334-56616335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554976106	chr4:56616372-56616373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548966084	chr4:56616378-56616379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183166619	chr4:56616393-56616394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs141521109	chr4:56616423-56616424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187705753	chr4:56616554-56616555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571563622	chr4:56616581-56616582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs536822489	chr4:56616610-56616611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs28520569	chr4:56616659-56616660	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs192328974	chr4:56616663-56616664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541939153	chr4:56616678-56616679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184791847	chr4:56616779-56616780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557391125	chr4:56616785-56616786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs371462756	chr4:56616794-56616795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572115974	chr4:56616809-56616810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559461177	chr4:56616826-56616827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541069310	chr4:56616840-56616841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs74435608	chr4:56616873-56616874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs146349606	chr4:56616886-56616887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs139764754	chr4:56616944-56616945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs28756395	chr4:56616993-56616994	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs11933539	chr4:56616994-56616995	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs564564009	chr4:56617016-56617017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs143029408	chr4:56617042-56617043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs189526600	chr4:56617154-56617155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575770220	chr4:56617205-56617206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200571072	chr4:56617207-56617208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201847103	chr4:56617209-56617210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201034882	chr4:56617210-56617211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs142406876	chr4:56617214-56617215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs34380788	chr4:56617215-56617216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371331861	chr4:56617221-56617222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559352768	chr4:56617228-56617229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs67621752	chr4:56617229-56617230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs368335230	chr4:56617230-56617231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs62310490	chr4:56617231-56617232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs62310491	chr4:56617235-56617236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs369309206	chr4:56617239-56617240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375372086	chr4:56617242-56617243	Weak transcription	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
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
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
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
Glioblastoma multiforme	19115005	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	22183965	CNVD
Autism	22543975	CNVD
Breast cancer	21785460	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56615600-56622800	Weak transcription	K562	blood

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