Variant report

Variant	nsv965620
Chromosome Location	chr5:117797792-117803188
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 267 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:267 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146308135	chr5:117797798-117797799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs555881689	chr5:117797854-117797855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181012415	chr5:117797862-117797863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs139374638	chr5:117797868-117797869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544815780	chr5:117797869-117797870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs558333624	chr5:117797891-117797892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs578192705	chr5:117797939-117797940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs72793582	chr5:117797945-117797946	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs559913132	chr5:117797947-117797948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571512701	chr5:117797984-117797985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550700234	chr5:117798005-117798006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs140593570	chr5:117798023-117798024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs150465519	chr5:117798031-117798032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567590491	chr5:117798066-117798067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs138267427	chr5:117798113-117798114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186219151	chr5:117798127-117798128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571380918	chr5:117798134-117798135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs149496274	chr5:117798135-117798136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs143956996	chr5:117798141-117798142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554144219	chr5:117798156-117798157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553174420	chr5:117798157-117798158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201668164	chr5:117798158-117798159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189504504	chr5:117798168-117798169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535840209	chr5:117798205-117798206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555942914	chr5:117798281-117798282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs10037316	chr5:117798293-117798294	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs141552780	chr5:117798307-117798308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558398602	chr5:117798321-117798322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs578100975	chr5:117798327-117798328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540596038	chr5:117798379-117798380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181369746	chr5:117798383-117798384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573598214	chr5:117798384-117798385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542214487	chr5:117798387-117798388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562098386	chr5:117798400-117798401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575909471	chr5:117798431-117798432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575743118	chr5:117798443-117798444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs117990046	chr5:117798488-117798489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564955739	chr5:117798490-117798491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs199834336	chr5:117798519-117798520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11389993	chr5:117798521-117798522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12657515	chr5:117798537-117798538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561231342	chr5:117798538-117798539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529967470	chr5:117798548-117798549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs115082949	chr5:117798602-117798603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569239962	chr5:117798630-117798631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191046905	chr5:117798647-117798648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538362850	chr5:117798684-117798685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs146176192	chr5:117798689-117798690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs74970149	chr5:117798697-117798698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534396216	chr5:117798709-117798710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
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
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
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Breast cancer	21509527	CNVD
Autism	22543975	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:117783600-117807000	Weak transcription	Left Ventricle	heart
2	chr5:117797600-117800400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links