Variant report

Variant	nsv292479
Chromosome Location	chr4:53914863-53916907
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	chr4:53911776..53913816-chr4:53914287..53916591,3	MCF-7	breast:
2	chr4:53889113..53891647-chr4:53916147..53918959,2	K562	blood:

Extended variants
information (count: 84 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541683985	chr4:53914880-53914881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs4103860	chr4:53914882-53914883	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs186585007	chr4:53914890-53914891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs578151515	chr4:53914891-53914892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs28601788	chr4:53914926-53914927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551965728	chr4:53914941-53914942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs368695712	chr4:53914985-53914986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531390456	chr4:53914986-53914987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs548219676	chr4:53914992-53914993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530093534	chr4:53915011-53915012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs80008604	chr4:53915100-53915101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs144341201	chr4:53915133-53915134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs34697139	chr4:53915171-53915172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs57492468	chr4:53915176-53915177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs527254177	chr4:53915189-53915190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs1038354	chr4:53915245-53915246	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs570644328	chr4:53915246-53915247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533199798	chr4:53915299-53915300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549661794	chr4:53915300-53915301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569824259	chr4:53915309-53915310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374522076	chr4:53915315-53915316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535521024	chr4:53915393-53915394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555364346	chr4:53915406-53915407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565764509	chr4:53915448-53915449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs13129159	chr4:53915484-53915485	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs558470298	chr4:53915510-53915511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs139250525	chr4:53915522-53915523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs144043869	chr4:53915574-53915575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs151290529	chr4:53915576-53915577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190589600	chr4:53915578-53915579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541970820	chr4:53915602-53915603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561748037	chr4:53915608-53915609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs140560118	chr4:53915609-53915610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs10517278	chr4:53915624-53915625	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs150054949	chr4:53915626-53915627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs145423306	chr4:53915627-53915628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376136356	chr4:53915644-53915645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549963176	chr4:53915654-53915655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs569485010	chr4:53915688-53915689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs183553718	chr4:53915712-53915713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549101430	chr4:53915746-53915747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565827609	chr4:53915774-53915775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535065869	chr4:53915802-53915803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187797090	chr4:53915874-53915875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556574093	chr4:53915915-53915916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs142333160	chr4:53915994-53915995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537314553	chr4:53916001-53916002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs557662921	chr4:53916012-53916013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189974139	chr4:53916023-53916024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs146437164	chr4:53916046-53916047	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
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
Glioblastoma multiforme	19115005	CNVD
Wilms tumour	21544195	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:53904600-53921400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr4:53904800-53929800	Weak transcription	Primary T cells from cord blood	blood
3	chr4:53906200-53921400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr4:53906400-53921400	Weak transcription	NHLF	lung
5	chr4:53906800-53921400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr4:53907000-53921200	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr4:53909000-53929400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr4:53914200-53922000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr4:53916800-53920800	Weak transcription	Pancreas	Pancrea

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links