Variant report

Variant	nsv980205
Chromosome Location	chr4:56009143-56011119
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	chr4:56000401..56002996-chr4:56008357..56010057,2	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145104998	chr4:56009143-56009144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs183750559	chr4:56009202-56009203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs28680424	chr4:56009245-56009246	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs186212030	chr4:56009320-56009321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371196398	chr4:56009504-56009505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs376052660	chr4:56009505-56009506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561767919	chr4:56009563-56009564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs527737687	chr4:56009594-56009595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547582980	chr4:56009639-56009640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191452927	chr4:56009655-56009656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549349731	chr4:56009685-56009686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182357808	chr4:56009690-56009691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561449383	chr4:56009814-56009815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369437310	chr4:56009833-56009834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528820439	chr4:56009853-56009854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550471933	chr4:56009865-56009866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570394593	chr4:56009880-56009881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536174417	chr4:56009939-56009940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555375885	chr4:56009967-56009968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528946591	chr4:56009980-56009981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547335754	chr4:56010000-56010001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs114675372	chr4:56010010-56010011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186639779	chr4:56010053-56010054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538267840	chr4:56010075-56010076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs147931527	chr4:56010090-56010091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs4516787	chr4:56010165-56010166	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs577765184	chr4:56010171-56010172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189852792	chr4:56010182-56010183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183164360	chr4:56010199-56010200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537835134	chr4:56010248-56010249	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs542516142	chr4:56010328-56010329	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs35213086	chr4:56010351-56010352	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs527723874	chr4:56010403-56010404	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs538539049	chr4:56010404-56010405	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs566309083	chr4:56010406-56010407	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs187846977	chr4:56010419-56010420	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs140531311	chr4:56010455-56010456	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs550372315	chr4:56010475-56010476	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs533703931	chr4:56010493-56010494	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs79200216	chr4:56010530-56010531	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs150494521	chr4:56010536-56010537	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs145405896	chr4:56010605-56010606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192837189	chr4:56010606-56010607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185330203	chr4:56010707-56010708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558437628	chr4:56010750-56010751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs377033090	chr4:56010754-56010755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534369370	chr4:56010756-56010757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs199499814	chr4:56010772-56010773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs397878535	chr4:56010773-56010774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557813123	chr4:56010811-56010812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
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	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
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55999600-56020600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:56010200-56010600	Active TSS	Sigmoid Colon	Sigmoid Colon

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