Variant report

Variant	nsv520272
Chromosome Location	chr13:76900143-76903622
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 141 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:141 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1164518	chr13:76900143-76900144	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs528078370	chr13:76900279-76900280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546648147	chr13:76900300-76900301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561762415	chr13:76900443-76900444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs117684242	chr13:76900465-76900466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548721535	chr13:76900495-76900496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560067013	chr13:76900503-76900504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570156934	chr13:76900515-76900516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs114784166	chr13:76900591-76900592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552609220	chr13:76900629-76900630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186711633	chr13:76900636-76900637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs527527658	chr13:76900712-76900713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534673569	chr13:76900718-76900719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552992438	chr13:76900780-76900781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574554200	chr13:76900795-76900796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535559088	chr13:76900813-76900814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557092720	chr13:76900838-76900839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs111752089	chr13:76900853-76900854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546014292	chr13:76900871-76900872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564203687	chr13:76900912-76900913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs148575418	chr13:76900944-76900945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540224002	chr13:76900955-76900956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561676727	chr13:76900958-76900959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528949154	chr13:76900971-76900972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543993301	chr13:76901015-76901016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563869509	chr13:76901041-76901042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530994105	chr13:76901079-76901080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552763360	chr13:76901095-76901096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs17066085	chr13:76901143-76901144	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs374438100	chr13:76901144-76901145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs1700825	chr13:76901150-76901151	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs150705190	chr13:76901165-76901166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs568140359	chr13:76901176-76901177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550577521	chr13:76901211-76901212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs56413959	chr13:76901230-76901231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577339103	chr13:76901244-76901245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139683650	chr13:76901260-76901261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs144646368	chr13:76901327-76901328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539253820	chr13:76901370-76901371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200537970	chr13:76901371-76901372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs73229649	chr13:76901387-76901388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs116425408	chr13:76901466-76901467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540535598	chr13:76901484-76901485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs556736734	chr13:76901486-76901487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs535813858	chr13:76901548-76901549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs11449396	chr13:76901549-76901550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs4142609	chr13:76901562-76901563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs4142608	chr13:76901572-76901573	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs573692955	chr13:76901611-76901612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs566945310	chr13:76901680-76901681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
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
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21858162	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	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
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hirschsprung''s Disease	21712996	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Intracranial aneurysm	16715129	CNVD
Non-small cell lung cancer	19010865	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76899200-76911400	Weak transcription	Aorta	Aorta
2	chr13:76899600-76905000	Weak transcription	Colon Smooth Muscle	Colon
3	chr13:76902800-76905800	Enhancers	Fetal Stomach	stomach

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