Variant report

Variant	nsv983534
Chromosome Location	chr13:88617783-88623130
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 113 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:113 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576656330	chr13:88617797-88617798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs370361414	chr13:88617818-88617819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs16962286	chr13:88617861-88617862	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs555314000	chr13:88617890-88617891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs184986483	chr13:88617966-88617967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs72641974	chr13:88617976-88617977	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs143233995	chr13:88619604-88619605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs117834605	chr13:88619610-88619611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs114402603	chr13:88619612-88619613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556960575	chr13:88619615-88619616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568841201	chr13:88619675-88619676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs74103987	chr13:88619697-88619698	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs12871901	chr13:88619700-88619701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185375696	chr13:88619703-88619704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12871904	chr13:88619704-88619705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573088256	chr13:88619719-88619720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540491033	chr13:88619759-88619760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558893939	chr13:88619768-88619769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs4433668	chr13:88619781-88619782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577113088	chr13:88619800-88619801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545063736	chr13:88619801-88619802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563730586	chr13:88619819-88619820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575623036	chr13:88619825-88619826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542729289	chr13:88619831-88619832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561106460	chr13:88619906-88619907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528666866	chr13:88619909-88619910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546839598	chr13:88619932-88619933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565432505	chr13:88619966-88619967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532876576	chr13:88620040-88620041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112038290	chr13:88620073-88620074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575386552	chr13:88620083-88620084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs568854888	chr13:88620084-88620085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536315526	chr13:88620091-88620092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs367774521	chr13:88620092-88620093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs141323372	chr13:88620106-88620107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182091482	chr13:88620125-88620126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs146698040	chr13:88620130-88620131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs558826594	chr13:88620143-88620144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577045917	chr13:88620184-88620185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538164230	chr13:88620201-88620202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189068133	chr13:88620205-88620206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs140317464	chr13:88620206-88620207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542668052	chr13:88620235-88620236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145502770	chr13:88620239-88620240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs573043874	chr13:88620243-88620244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369328868	chr13:88620287-88620288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373548487	chr13:88620289-88620290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375616723	chr13:88620291-88620292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs369872829	chr13:88620293-88620294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540413253	chr13:88620316-88620317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Mental retardation	17847001	CNVD
Medulloblastoma	19270706	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:88617400-88618000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr13:88619600-88622200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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