Variant report

Variant	nsv515796
Chromosome Location	chr13:88470185-88471137
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9518585	chr13:88470185-88470186	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs544762288	chr13:88470261-88470262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs16959497	chr13:88470277-88470278	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs2039572	chr13:88470366-88470367	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs114205303	chr13:88470431-88470432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189509924	chr13:88470474-88470475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs368204814	chr13:88470475-88470476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs386380091	chr13:88470484-88470485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546729704	chr13:88470486-88470487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs61294418	chr13:88470489-88470490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs373115915	chr13:88470490-88470491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs377365510	chr13:88470498-88470499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192028080	chr13:88470568-88470569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184626538	chr13:88470640-88470641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550548580	chr13:88470708-88470709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs9518588	chr13:88470741-88470742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs75959005	chr13:88470763-88470764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189771009	chr13:88470857-88470858	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs181424561	chr13:88470894-88470895	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs373992329	chr13:88470909-88470910	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545500276	chr13:88470940-88470941	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548586467	chr13:88470945-88470946	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534797448	chr13:88470975-88470976	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs377425609	chr13:88471023-88471024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566720175	chr13:88471052-88471053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368436002	chr13:88471060-88471061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs186061678	chr13:88471077-88471078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs188976907	chr13:88471118-88471119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs140221902	chr13:88471129-88471130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs9645867	chr13:88471137-88471138	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:85)

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
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	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
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
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Breast cancer	17142309	CNVD
Mental retardation	17847001	CNVD
Medulloblastoma	19270706	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:88466400-88474000	Weak transcription	Hela-S3	cervix
2	chr13:88470800-88471000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr13:88471000-88471600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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