Variant report

Variant	nsv519345
Chromosome Location	chr13:85612388-85614474
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 98 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9319110	chr13:85612388-85612389	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs367721847	chr13:85612441-85612442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs76421264	chr13:85612480-85612481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556386055	chr13:85612487-85612488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs77296077	chr13:85612488-85612489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs112323849	chr13:85612503-85612504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560639343	chr13:85612510-85612511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs371510745	chr13:85612550-85612551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572770209	chr13:85612577-85612578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs9593969	chr13:85612591-85612592	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs564959812	chr13:85612618-85612619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs9593970	chr13:85612619-85612620	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs9593971	chr13:85612641-85612642	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs142365682	chr13:85612670-85612671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs529860657	chr13:85612672-85612673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535393023	chr13:85612716-85612717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190352600	chr13:85612717-85612718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs9575717	chr13:85612721-85612722	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs534181850	chr13:85612760-85612761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550127448	chr13:85612763-85612764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536257566	chr13:85612782-85612783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs79712151	chr13:85612796-85612797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552192187	chr13:85612817-85612818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182917889	chr13:85612848-85612849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs9602633	chr13:85612867-85612868	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs7992697	chr13:85612883-85612884	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs574942121	chr13:85612920-85612921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs151269887	chr13:85612925-85612926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554425823	chr13:85612937-85612938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201353128	chr13:85612969-85612970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs188819108	chr13:85612979-85612980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540226221	chr13:85612983-85612984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs9575718	chr13:85613018-85613019	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs576913767	chr13:85613029-85613030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544286675	chr13:85613047-85613048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs79307795	chr13:85613064-85613065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529875111	chr13:85613124-85613125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141586428	chr13:85613140-85613141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560385399	chr13:85613165-85613166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369507261	chr13:85613166-85613167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576101051	chr13:85613181-85613182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs552055740	chr13:85613192-85613193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570472153	chr13:85613213-85613214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111842906	chr13:85613222-85613223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543154229	chr13:85613241-85613242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549835508	chr13:85613257-85613258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs58674304	chr13:85613287-85613288	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs58210939	chr13:85613304-85613305	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs554114009	chr13:85613337-85613338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs566363074	chr13:85613387-85613388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
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	17690704	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	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
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
abnormal development	18461090	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
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Urothelial cell carcinoma	18451213	CNVD
Developmental delay	19490664	CNVD
Neurodevelopmental disorder	22521361	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Schizophrenia	21346763	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:85608600-85615600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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