Variant report

Variant	nsv464411
Chromosome Location	chr7:25377488-25382023
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:25372836..25375430-chr7:25381339..25383211,2	K562	blood:

Extended variants
information (count: 220 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:220 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12700607	chr7:25377488-25377489	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs541744717	chr7:25377491-25377492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs17307116	chr7:25377502-25377503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs527236471	chr7:25377517-25377518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs547419583	chr7:25377543-25377544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs9655258	chr7:25377569-25377570	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs139810961	chr7:25377592-25377593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs555964859	chr7:25377609-25377610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569482782	chr7:25377610-25377611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs143724909	chr7:25377620-25377621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182399007	chr7:25377622-25377623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187421983	chr7:25377626-25377627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540613556	chr7:25377684-25377685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554203732	chr7:25377714-25377715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs192264424	chr7:25377739-25377740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs138758012	chr7:25377776-25377777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs147140459	chr7:25377789-25377790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563090847	chr7:25377800-25377801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182715685	chr7:25377811-25377812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs116062714	chr7:25377845-25377846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs57320328	chr7:25377867-25377868	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs561452185	chr7:25377885-25377886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs367744145	chr7:25377997-25377998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs140253415	chr7:25378029-25378030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs371906062	chr7:25378062-25378063	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560685820	chr7:25378088-25378089	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532506827	chr7:25378097-25378098	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs57338768	chr7:25378140-25378141	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs185002752	chr7:25378167-25378168	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530019607	chr7:25378199-25378200	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs142121501	chr7:25378207-25378208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569520571	chr7:25378213-25378214	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372158800	chr7:25378262-25378263	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538445069	chr7:25378263-25378264	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs34317461	chr7:25378264-25378265	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs1859095	chr7:25378265-25378266	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs547673097	chr7:25378284-25378285	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs35315568	chr7:25378289-25378290	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs34960967	chr7:25378293-25378294	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs59776529	chr7:25378314-25378315	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs554158079	chr7:25378332-25378333	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200393654	chr7:25378341-25378342	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs5882981	chr7:25378342-25378343	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs199570104	chr7:25378351-25378352	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs76973034	chr7:25378354-25378355	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536954433	chr7:25378357-25378358	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556848669	chr7:25378360-25378361	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs190194402	chr7:25378361-25378362	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545607278	chr7:25378365-25378366	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs182417464	chr7:25378377-25378378	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
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
Melanoma	18172304	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
Endometrioid adenocarcinoma	16974079	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
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21785460	CNVD
Lung cancer	16773561	CNVD
Schizophrenia	19546859	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Lung adenocarcinoma	17086460	CNVD
Colorectal cancer	19455253	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:25376800-25386800	Weak transcription	Fetal Intestine Small	intestine
2	chr7:25378000-25378800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:25378800-25383000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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