Variant report

Variant	nsv967428
Chromosome Location	chr7:14390125-14405382
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 173 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:173 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75313329	chr7:14390185-14390186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs2357898	chr7:14390221-14390222	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs544385251	chr7:14390224-14390225	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536945330	chr7:14390278-14390279	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556958905	chr7:14390308-14390309	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs73679717	chr7:14390333-14390334	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs183403653	chr7:14390359-14390360	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553079167	chr7:14390360-14390361	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572697867	chr7:14390370-14390371	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188803521	chr7:14390382-14390383	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564650847	chr7:14390400-14390401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs578224801	chr7:14390458-14390459	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs17168089	chr7:14390463-14390464	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs563701747	chr7:14390592-14390593	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547521917	chr7:14390607-14390608	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542727575	chr7:14390649-14390650	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs559455365	chr7:14390651-14390652	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs150125404	chr7:14390683-14390684	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533556795	chr7:14390687-14390688	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs74281309	chr7:14390695-14390696	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181694221	chr7:14390697-14390698	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528542507	chr7:14390731-14390732	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs34437235	chr7:14390736-14390737	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs115181398	chr7:14390745-14390746	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530843867	chr7:14390751-14390752	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550555314	chr7:14390760-14390761	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs193060467	chr7:14390765-14390766	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs370690658	chr7:14390785-14390786	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs75889173	chr7:14390819-14390820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs552991456	chr7:14390840-14390841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs147693365	chr7:14390858-14390859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs183474116	chr7:14390878-14390879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs17168091	chr7:14390962-14390963	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs76083604	chr7:14391003-14391004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs544114272	chr7:14391009-14391010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs186659769	chr7:14391040-14391041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs574259585	chr7:14391049-14391050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs75607033	chr7:14391056-14391057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs142395594	chr7:14391064-14391065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs116596366	chr7:14391071-14391072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs573890266	chr7:14391078-14391079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs191467144	chr7:14391093-14391094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs565092523	chr7:14391125-14391126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs35093346	chr7:14391147-14391148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs552431152	chr7:14391149-14391150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs114208428	chr7:14391150-14391151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs550870537	chr7:14391158-14391159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs567485619	chr7:14391163-14391164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs151291732	chr7:14391177-14391178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs116468684	chr7:14391195-14391196	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	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
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Myelofibrosis	22110671	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Pancreatic cancer	17952125	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Colorectal cancer	21645411	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:14383200-14390800	Weak transcription	Fetal Heart	heart
2	chr7:14390200-14391600	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr7:14390600-14391200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr7:14390600-14391200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr7:14390800-14391400	Enhancers	Fetal Heart	heart
6	chr7:14402200-14404600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr7:14402800-14403400	Enhancers	Fetal Heart	heart

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