Variant report

Variant	nsv606303
Chromosome Location	chr7:15630871-15637403
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 336 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:336 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11763353	chr7:15630871-15630872	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
2	rs113774577	chr7:15630887-15630888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs528778612	chr7:15630895-15630896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs373223992	chr7:15630932-15630933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184107635	chr7:15630962-15630963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs147549065	chr7:15630969-15630970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529738489	chr7:15630973-15630974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs542220156	chr7:15630979-15630980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547865655	chr7:15631002-15631003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201935508	chr7:15631051-15631052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537118389	chr7:15631119-15631120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558808216	chr7:15631121-15631122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188595527	chr7:15631125-15631126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570626070	chr7:15631130-15631131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538041588	chr7:15631135-15631136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552926200	chr7:15631143-15631144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs76273492	chr7:15631146-15631147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553184212	chr7:15631157-15631158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374693491	chr7:15631158-15631159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138528694	chr7:15631167-15631168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149248358	chr7:15631194-15631195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575355892	chr7:15631216-15631217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548617296	chr7:15631220-15631221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370945597	chr7:15631233-15631234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs545860936	chr7:15631273-15631274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs374296207	chr7:15631274-15631275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs144426202	chr7:15631279-15631280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540469769	chr7:15631285-15631286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562444116	chr7:15631302-15631303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529544034	chr7:15631310-15631311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181533204	chr7:15631334-15631335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs67307027	chr7:15631371-15631372	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs536440879	chr7:15631372-15631373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552260901	chr7:15631392-15631393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570662306	chr7:15631400-15631401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534860675	chr7:15631402-15631403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs552876528	chr7:15631414-15631415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148429489	chr7:15631418-15631419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187017512	chr7:15631419-15631420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535359937	chr7:15631427-15631428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs142541413	chr7:15631445-15631446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575197174	chr7:15631447-15631448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554443398	chr7:15631497-15631498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539551724	chr7:15631499-15631500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566408933	chr7:15631501-15631502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190361204	chr7:15631588-15631589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs572988947	chr7:15631597-15631598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182598808	chr7:15631607-15631608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562118429	chr7:15631646-15631647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574294661	chr7:15631662-15631663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Rubinstein-Taybi syndrome	22470819	CNVD
Alzheimer''s disease	22166940	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:15630200-15648800	Weak transcription	Fetal Lung	lung
2	chr7:15634200-15634800	Enhancers	Placenta Amnion	Placenta Amnion
3	chr7:15634400-15634800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:15637200-15639000	Weak transcription	Fetal Muscle Leg	muscle

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