Variant report

Variant	nsv524308
Chromosome Location	chr7:11773800-11774901
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11984064	chr7:11773800-11773801	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs564892816	chr7:11773850-11773851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs577388461	chr7:11773873-11773874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs1526540	chr7:11773901-11773902	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs114747967	chr7:11773912-11773913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs375988958	chr7:11773935-11773936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549100058	chr7:11773969-11773970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs181041398	chr7:11773977-11773978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs528559732	chr7:11773989-11773990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529417750	chr7:11774074-11774075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs542751077	chr7:11774137-11774138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs559937131	chr7:11774157-11774158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs1526539	chr7:11774181-11774182	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs539204232	chr7:11774206-11774207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs535153971	chr7:11774207-11774208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs141487767	chr7:11774218-11774219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs1526538	chr7:11774241-11774242	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs186437540	chr7:11774256-11774257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs76378805	chr7:11774297-11774298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs534729079	chr7:11774338-11774339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs557851069	chr7:11774340-11774341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs79729135	chr7:11774345-11774346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs544028091	chr7:11774359-11774360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs557676644	chr7:11774364-11774365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs574235846	chr7:11774392-11774393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs543038676	chr7:11774393-11774394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs559513155	chr7:11774395-11774396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs528435744	chr7:11774406-11774407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs545109796	chr7:11774407-11774408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs372241101	chr7:11774423-11774424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs138050225	chr7:11774432-11774433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs6956994	chr7:11774458-11774459	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs189578973	chr7:11774470-11774471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs116632045	chr7:11774471-11774472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs6957012	chr7:11774498-11774499	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs181547601	chr7:11774530-11774531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs17247584	chr7:11774539-11774540	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs569531875	chr7:11774546-11774547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs534552465	chr7:11774619-11774620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs143113788	chr7:11774646-11774647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs138597721	chr7:11774651-11774652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs117379500	chr7:11774681-11774682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs1526537	chr7:11774687-11774688	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs185963961	chr7:11774713-11774714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs141589499	chr7:11774745-11774746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs1526536	chr7:11774753-11774754	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs572902182	chr7:11774760-11774761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs544996411	chr7:11774762-11774763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs6957230	chr7:11774777-11774778	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs530895057	chr7:11774784-11774785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Medulloblastoma	17653508	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	18194544	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Autism	22495309	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Glioblastoma multiforme	17002787	CNVD
Melanoma	20877625	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Rett syndrome	21593744	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11768000-11782000	Weak transcription	Fetal Lung	lung
2	chr7:11772000-11775200	Enhancers	A549	lung

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