Variant report

Variant	nsv329948
Chromosome Location	chr5:112754124-112755837
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 76 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571319670	chr5:112754128-112754129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs138341871	chr5:112754215-112754216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs58474673	chr5:112754366-112754367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547733963	chr5:112754368-112754369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs3068637	chr5:112754381-112754382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs2416293	chr5:112754386-112754387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs72378679	chr5:112754387-112754388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs34596996	chr5:112754388-112754389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs386404717	chr5:112754391-112754392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs58461374	chr5:112754411-112754412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181755144	chr5:112754440-112754441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs1610938	chr5:112754454-112754455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555123942	chr5:112754467-112754468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs116027277	chr5:112754489-112754490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs17135615	chr5:112754507-112754508	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs558644384	chr5:112754526-112754527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186270365	chr5:112754528-112754529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541590299	chr5:112754555-112754556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs3846721	chr5:112754567-112754568	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs191073927	chr5:112754580-112754581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541684926	chr5:112754603-112754604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369599974	chr5:112754620-112754621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530581743	chr5:112754701-112754702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543904129	chr5:112754709-112754710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375448806	chr5:112754714-112754715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530785371	chr5:112754731-112754732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs146126914	chr5:112754763-112754764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547371101	chr5:112754774-112754775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs73236472	chr5:112754804-112754805	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs530446961	chr5:112754805-112754806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543460250	chr5:112754807-112754808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs72797949	chr5:112754827-112754828	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs570240040	chr5:112754845-112754846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373760415	chr5:112754854-112754855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182536215	chr5:112754910-112754911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs4705818	chr5:112754926-112754927	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs558732362	chr5:112754928-112754929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs4705819	chr5:112754941-112754942	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs534635825	chr5:112754992-112754993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552981149	chr5:112755045-112755046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs142483364	chr5:112755057-112755058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542119242	chr5:112755061-112755062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs144386805	chr5:112755062-112755063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs556931219	chr5:112755138-112755139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575444869	chr5:112755139-112755140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112619714	chr5:112755169-112755170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570263403	chr5:112755170-112755171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs150899335	chr5:112755174-112755175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541099885	chr5:112755187-112755188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs559338027	chr5:112755190-112755191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Sezary syndrome	18413736	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112752000-112758200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:112753600-112761000	Weak transcription	HMEC	breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links