Variant report

Variant	nsv366446
Chromosome Location	chr7:5848578-5849894
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 101 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:101 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371303757	chr7:5848578-5848579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs66830471	chr7:5848580-5848581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs67754438	chr7:5848582-5848583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs190051244	chr7:5848612-5848613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs193079497	chr7:5848614-5848615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543149183	chr7:5848671-5848672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561236961	chr7:5848673-5848674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539655083	chr7:5848675-5848676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184892998	chr7:5848682-5848683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565246026	chr7:5848696-5848697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188539207	chr7:5848712-5848713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555218764	chr7:5848720-5848721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550971383	chr7:5848754-5848755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs563145193	chr7:5848778-5848779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567267267	chr7:5848780-5848781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs144850723	chr7:5848798-5848799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs548721603	chr7:5848806-5848807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs567024597	chr7:5848807-5848808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs139462454	chr7:5848809-5848810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs181007009	chr7:5848817-5848818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570892373	chr7:5848824-5848825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs115159005	chr7:5848837-5848838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556968020	chr7:5848852-5848853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs144231661	chr7:5848870-5848871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536063502	chr7:5848873-5848874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185125345	chr7:5848917-5848918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554780187	chr7:5848944-5848945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs573390907	chr7:5848983-5848984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs374285094	chr7:5848990-5848991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540716566	chr7:5848996-5848997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565308162	chr7:5849026-5849027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577308325	chr7:5849035-5849036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs544928339	chr7:5849063-5849064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187975643	chr7:5849073-5849074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530371798	chr7:5849079-5849080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577638672	chr7:5849098-5849099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs141314002	chr7:5849103-5849104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs386709775	chr7:5849104-5849105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs143363001	chr7:5849105-5849106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546265569	chr7:5849106-5849107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112780746	chr7:5849110-5849111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573795608	chr7:5849118-5849119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs151186756	chr7:5849122-5849123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550505463	chr7:5849133-5849134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569081307	chr7:5849137-5849138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544077079	chr7:5849139-5849140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371962858	chr7:5849160-5849161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs140321236	chr7:5849165-5849166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566650821	chr7:5849168-5849169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs150364269	chr7:5849178-5849179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
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
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21045282	CNVD
Disorders of sex development	21048976	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Schizophrenia	21346763	CNVD
Acute myeloid leukemia	21251322	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5841400-5849800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:5848200-5849200	Weak transcription	HepG2	liver
3	chr7:5849200-5850000	Enhancers	HepG2	liver
4	chr7:5849600-5850600	Enhancers	Brain Germinal Matrix	brain
5	chr7:5849800-5851200	Enhancers	Fetal Brain Male	brain

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