Variant report

Variant	nsv10493
Chromosome Location	chr4:54490157-54499600
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	chr4:54484339..54487023-chr4:54487533..54490368,2	K562	blood:

Extended variants
information (count: 381 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:381 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528522709	chr4:54490157-54490158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs577441397	chr4:54490158-54490159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs543309248	chr4:54490181-54490182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185167600	chr4:54490192-54490193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188289778	chr4:54490206-54490207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542212702	chr4:54490212-54490213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574469711	chr4:54490237-54490238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs542005286	chr4:54490245-54490246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs138192103	chr4:54490263-54490264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528141509	chr4:54490290-54490291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs143640763	chr4:54490356-54490357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs193284535	chr4:54490357-54490358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs531178913	chr4:54490360-54490361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572368883	chr4:54490370-54490371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561386347	chr4:54490420-54490421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530442890	chr4:54490457-54490458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546161669	chr4:54490463-54490464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs546640810	chr4:54490476-54490477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs2616418	chr4:54490487-54490488	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs538723372	chr4:54490493-54490494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs147181005	chr4:54490499-54490500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571099387	chr4:54490535-54490536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536809570	chr4:54490542-54490543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs140493707	chr4:54490561-54490562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573825938	chr4:54490562-54490563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs34832930	chr4:54490594-54490595	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs185508637	chr4:54490616-54490617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs142927302	chr4:54490617-54490618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs371969478	chr4:54490636-54490637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs565016579	chr4:54490652-54490653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs575423293	chr4:54490655-54490656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs544447607	chr4:54490657-54490658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs188330001	chr4:54490659-54490660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs561554745	chr4:54490665-54490666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs144588444	chr4:54490719-54490720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs148408443	chr4:54490802-54490803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs17083218	chr4:54490886-54490887	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs77208111	chr4:54490901-54490902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs552157370	chr4:54490922-54490923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs548331402	chr4:54490929-54490930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs537965241	chr4:54490979-54490980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs180675514	chr4:54491035-54491036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs376794669	chr4:54491048-54491049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs2616419	chr4:54491084-54491085	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs536139188	chr4:54491140-54491141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs2572296	chr4:54491147-54491148	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs572870887	chr4:54491181-54491182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs574355559	chr4:54491185-54491186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs2572295	chr4:54491200-54491201	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs558593256	chr4:54491215-54491216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Glioblastoma multiforme	21525872	CNVD
Glioblastoma multiforme	19115005	CNVD
Wilms tumour	21544195	CNVD
Cancer	20164919	CNVD
Gastrointestinal stromal cancer	17527083	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17209131	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	20164920	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54485200-54505800	Weak transcription	Esophagus	oesophagus
2	chr4:54489400-54490600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr4:54489400-54490800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr4:54489600-54492600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr4:54489600-54492600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr4:54489600-54495800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr4:54490600-54491000	Enhancers	Ovary	ovary
8	chr4:54490800-54492800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr4:54490800-54498400	Weak transcription	Left Ventricle	heart
10	chr4:54491000-54499200	Weak transcription	Ovary	ovary
11	chr4:54492600-54492800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr4:54492600-54492800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr4:54492600-54494200	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr4:54492600-54495000	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr4:54492600-54495200	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr4:54492800-54495200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr4:54493000-54493400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr4:54493200-54493400	Enhancers	Lung	lung
19	chr4:54493200-54494000	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr4:54493400-54495600	Weak transcription	Lung	lung
21	chr4:54494000-54495000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr4:54494600-54507000	Weak transcription	Right Ventricle	heart
23	chr4:54495000-54496600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr4:54495000-54497400	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr4:54495200-54496000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr4:54495600-54496000	Enhancers	Adipose Nuclei	Adipose
27	chr4:54495600-54496000	Enhancers	Lung	lung
28	chr4:54496000-54499200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr4:54496000-54500600	Weak transcription	Lung	lung
30	chr4:54496600-54499400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr4:54496800-54499000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr4:54497400-54501400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr4:54498400-54498600	Enhancers	Left Ventricle	heart
34	chr4:54498600-54501200	Weak transcription	Left Ventricle	heart
35	chr4:54499000-54500400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr4:54499200-54499400	Enhancers	Primary hematopoietic stem cells	blood
37	chr4:54499200-54500000	Enhancers	Small Intestine	intestine
38	chr4:54499200-54500200	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr4:54499200-54500400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr4:54499200-54503000	Enhancers	Ovary	ovary
41	chr4:54499400-54500200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr4:54499400-54500200	Enhancers	Osteobl	bone
43	chr4:54499400-54500400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr4:54499600-54499800	Bivalent Enhancer	Fetal Lung	lung
45	chr4:54499600-54499800	Enhancers	Stomach Smooth Muscle	stomach
46	chr4:54499600-54500200	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr4:54499600-54500400	Enhancers	NHDF-Ad	bronchial
48	chr4:54499600-54500400	Enhancers	NHLF	lung

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