Variant report

Variant	nsv525825
Chromosome Location	chr7:3118298-3119823
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	chr7:3114729..3116313-chr7:3116448..3118369,2	MCF-7	breast:

Extended variants
information (count: 90 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:90 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17132944	chr7:3118298-3118299	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs562204131	chr7:3118300-3118301	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs546239337	chr7:3118308-3118309	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs149749168	chr7:3118319-3118320	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs528802219	chr7:3118323-3118324	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs548948064	chr7:3118325-3118326	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529559830	chr7:3118372-3118373	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs144579319	chr7:3118373-3118374	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs192015263	chr7:3118380-3118381	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs73298820	chr7:3118381-3118382	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs570549773	chr7:3118407-3118408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539013377	chr7:3118422-3118423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs199934778	chr7:3118424-3118425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs552560414	chr7:3118427-3118428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs566383967	chr7:3118452-3118453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs535358220	chr7:3118490-3118491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs555282006	chr7:3118522-3118523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs12668017	chr7:3118546-3118547	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs544423336	chr7:3118551-3118552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs557145215	chr7:3118585-3118586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs560130956	chr7:3118586-3118587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs201085992	chr7:3118610-3118611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577280703	chr7:3118635-3118636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs546177992	chr7:3118687-3118688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs527468356	chr7:3118713-3118714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs528537636	chr7:3118733-3118734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs377279874	chr7:3118756-3118757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs79653035	chr7:3118757-3118758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs530986441	chr7:3118770-3118771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs551171578	chr7:3118772-3118773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs549037362	chr7:3118787-3118788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs57268797	chr7:3118804-3118805	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs532867318	chr7:3118806-3118807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs6978200	chr7:3118835-3118836	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs561191507	chr7:3118838-3118839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs566120447	chr7:3118883-3118884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs146482670	chr7:3118915-3118916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs555351611	chr7:3118937-3118938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs569152291	chr7:3118953-3118954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs537607473	chr7:3118962-3118963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs569568551	chr7:3118989-3118990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs373270448	chr7:3118994-3118995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs112151118	chr7:3119007-3119008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs114756355	chr7:3119071-3119072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539933241	chr7:3119103-3119104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs531605329	chr7:3119156-3119157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553540650	chr7:3119168-3119169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs144272443	chr7:3119176-3119177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs74409671	chr7:3119182-3119183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs147503122	chr7:3119205-3119206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Chordoma	21602918	CNVD
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	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
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
Urothelial carcinoma	21177765	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Nasopharyngeal cancer	20548289	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
Spondylocostal dysostosis	21085971	CNVD
Mental retardation	17901693	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	22286061	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Schizophrenia	23813976	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3117600-3119000	Enhancers	Primary B cells from peripheral blood	blood
2	chr7:3118000-3118400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:3118000-3118600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr7:3118400-3119000	Enhancers	GM12878-XiMat	blood
5	chr7:3118400-3122400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:3119000-3121800	Weak transcription	Primary B cells from peripheral blood	blood

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