Variant report

Variant	nsv519044
Chromosome Location	chr13:65746182-65798303
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	chr13:65796967..65799458-chr13:65799743..65801550,2	MCF-7	breast:
2	chr13:65787284..65789901-chr13:65800998..65803685,2	MCF-7	breast:

Extended variants
information (count: 185 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:185 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145494496	chr13:65763008-65763009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs555064073	chr13:65763015-65763016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs572133255	chr13:65763018-65763019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534395808	chr13:65763022-65763023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs138045801	chr13:65763035-65763036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs577385754	chr13:65763045-65763046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543313386	chr13:65763051-65763052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563561326	chr13:65763093-65763094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs78754365	chr13:65763104-65763105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs187987988	chr13:65763106-65763107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs559468234	chr13:65763145-65763146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs547025922	chr13:65763224-65763225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs73506679	chr13:65763241-65763242	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs571662290	chr13:65763243-65763244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs180906733	chr13:65763244-65763245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs112210050	chr13:65763261-65763262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs565501701	chr13:65763268-65763269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs34443036	chr13:65763353-65763354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs531081012	chr13:65763356-65763357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs550885443	chr13:65763357-65763358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs186137866	chr13:65763382-65763383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs192228926	chr13:65763394-65763395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs539216755	chr13:65763421-65763422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs548995888	chr13:65763455-65763456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs565300844	chr13:65763521-65763522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs144680626	chr13:65763534-65763535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs557381479	chr13:65763550-65763551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs557181050	chr13:65763591-65763592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs538202555	chr13:65763702-65763703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs536889281	chr13:65763742-65763743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs138438834	chr13:65763747-65763748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs181075706	chr13:65777405-65777406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs546830319	chr13:65777412-65777413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566641431	chr13:65777424-65777425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs149216353	chr13:65777425-65777426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552267158	chr13:65777446-65777447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569043425	chr13:65777481-65777482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550582606	chr13:65777499-65777500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184026392	chr13:65777506-65777507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs9540376	chr13:65777561-65777562	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs567855228	chr13:65777579-65777580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187969212	chr13:65777588-65777589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534235664	chr13:65777589-65777590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554490912	chr13:65777696-65777697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs143373871	chr13:65777707-65777708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545019670	chr13:65777712-65777713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529694141	chr13:65777723-65777724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs138965720	chr13:65777729-65777730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs544298736	chr13:65777767-65777768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561071105	chr13:65777777-65777778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Merkel cell carcinoma	19020549	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21858162	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Colorectal cancer	16774939	CNVD
Adenoid cystic carcinoma	17372589	CNVD
abnormal development	18461090	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Prostate cancer	16461572	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Intellectual disability	21811512	CNVD
Colorectal cancer	21645411	CNVD
Melanoma	20877625	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:65763000-65763400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr13:65763400-65763800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr13:65777400-65778200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr13:65779000-65780800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr13:65791200-65791800	Enhancers	Fetal Brain Male	brain
6	chr13:65791200-65792400	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr13:65791800-65792200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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