Variant report

Variant	nsv605919
Chromosome Location	chr7:3648483-3655292
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	chr7:3650446..3652502-chr7:3655244..3656781,2	MCF-7	breast:
2	chr7:3650446..3652502-chr7:3655244..3656781,2	MCF-7	breast:

Extended variants
information (count: 462 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:462 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1202229	chr7:3648483-3648484	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs7797548	chr7:3648490-3648491	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs529954191	chr7:3648529-3648530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549326351	chr7:3648532-3648533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559900053	chr7:3648646-3648647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569313858	chr7:3648685-3648686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs144724996	chr7:3648708-3648709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553821087	chr7:3648716-3648717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192380009	chr7:3648759-3648760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544119897	chr7:3648761-3648762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563802247	chr7:3648775-3648776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs565670033	chr7:3648793-3648794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534380711	chr7:3648844-3648845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185525252	chr7:3648858-3648859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574348133	chr7:3648864-3648865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs7798169	chr7:3648879-3648880	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs556548809	chr7:3648889-3648890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568152456	chr7:3648919-3648920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576378012	chr7:3648938-3648939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545108682	chr7:3648943-3648944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190391133	chr7:3648958-3648959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572471062	chr7:3648987-3648988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540795173	chr7:3649040-3649041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201470085	chr7:3649043-3649044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372246732	chr7:3649051-3649052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs376584023	chr7:3649057-3649058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529891347	chr7:3649069-3649070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181853180	chr7:3649073-3649074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563474758	chr7:3649085-3649086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs139558463	chr7:3649086-3649087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184695914	chr7:3649113-3649114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565738312	chr7:3649123-3649124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534432612	chr7:3649125-3649126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs1202228	chr7:3649128-3649129	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs571706729	chr7:3649173-3649174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112472116	chr7:3649176-3649177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188621607	chr7:3649179-3649180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556883580	chr7:3649245-3649246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576694162	chr7:3649251-3649252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs140160418	chr7:3649268-3649269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs558696874	chr7:3649300-3649301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181367573	chr7:3649308-3649309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557317433	chr7:3649322-3649323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185787999	chr7:3649326-3649327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs541130596	chr7:3649328-3649329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs554690988	chr7:3649333-3649334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs142411735	chr7:3649339-3649340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536386829	chr7:3649344-3649345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571077818	chr7:3649345-3649346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574929098	chr7:3649351-3649352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
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
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Colorectal cancer	21645411	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3636400-3655800	Weak transcription	Aorta	Aorta
2	chr7:3645200-3660400	Weak transcription	HepG2	liver
3	chr7:3646400-3649400	Weak transcription	Pancreas	Pancrea
4	chr7:3646400-3657200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:3649400-3649600	Enhancers	Pancreas	Pancrea
6	chr7:3649600-3673400	Weak transcription	Pancreas	Pancrea
7	chr7:3650400-3651000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:3654200-3654400	Enhancers	Fetal Brain Male	brain
9	chr7:3654400-3655200	Weak transcription	Fetal Brain Male	brain
10	chr7:3654400-3667600	Weak transcription	Colon Smooth Muscle	Colon
11	chr7:3655000-3655400	Active TSS	Fetal Lung	lung
12	chr7:3655200-3655600	Enhancers	Fetal Brain Male	brain

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