Variant report

Variant	nsv524230
Chromosome Location	chr5:111942769-111944473
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12516949	chr5:111942769-111942770	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs538722000	chr5:111942821-111942822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs370057790	chr5:111942833-111942834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs181710848	chr5:111942869-111942870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559114439	chr5:111942889-111942890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs142786359	chr5:111942924-111942925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs146978113	chr5:111942931-111942932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547944773	chr5:111942946-111942947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569633563	chr5:111942983-111942984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575836204	chr5:111942984-111942985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536898230	chr5:111943007-111943008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs544598531	chr5:111943075-111943076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs11746594	chr5:111943114-111943115	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs577988716	chr5:111943115-111943116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187035219	chr5:111943127-111943128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs115473400	chr5:111943134-111943135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs72791176	chr5:111943155-111943156	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs544601695	chr5:111943159-111943160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191470693	chr5:111943161-111943162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561439312	chr5:111943202-111943203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs576812289	chr5:111943244-111943245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs181386110	chr5:111943271-111943272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs186188343	chr5:111943273-111943274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs189874052	chr5:111943281-111943282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs370422915	chr5:111943287-111943288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs547350724	chr5:111943308-111943309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs531246104	chr5:111943324-111943325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs369076982	chr5:111943355-111943356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs559220033	chr5:111943389-111943390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs182188775	chr5:111943415-111943416	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs547982924	chr5:111943440-111943441	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs569469303	chr5:111943441-111943442	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs187863441	chr5:111943478-111943479	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs79602662	chr5:111943483-111943484	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs570703498	chr5:111943500-111943501	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs117870860	chr5:111943513-111943514	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs138240631	chr5:111943537-111943538	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs73788566	chr5:111943544-111943545	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs11743216	chr5:111943552-111943553	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs78305601	chr5:111943595-111943596	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs576753648	chr5:111943634-111943635	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561305330	chr5:111943646-111943647	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544029886	chr5:111943676-111943677	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368207602	chr5:111943720-111943721	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs10077421	chr5:111943728-111943729	Enhancers Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs150827264	chr5:111943732-111943733	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs139229812	chr5:111943771-111943772	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549836116	chr5:111943788-111943789	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374345045	chr5:111943817-111943818	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529747850	chr5:111943839-111943840	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Colorectal cancer	21297112	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111941000-111943600	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr5:111941000-111952600	Weak transcription	Right Atrium	heart
3	chr5:111941200-111943400	Weak transcription	Fetal Intestine Large	intestine
4	chr5:111941400-111943200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr5:111943200-111945200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr5:111943400-111945400	Active TSS	Fetal Intestine Large	intestine
7	chr5:111943600-111945400	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr5:111943800-111944200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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