Variant report

Variant	nsv976271
Chromosome Location	chr13:89852618-89863585
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 272 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:272 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544108214	chr13:89852734-89852735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs189913752	chr13:89852756-89852757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183052503	chr13:89852801-89852802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187573901	chr13:89852817-89852818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs540744219	chr13:89852836-89852837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555453427	chr13:89852842-89852843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs193289484	chr13:89852850-89852851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551148014	chr13:89852851-89852852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561240925	chr13:89852862-89852863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544725499	chr13:89852868-89852869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183789474	chr13:89852877-89852878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530746782	chr13:89852904-89852905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs72642858	chr13:89852906-89852907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs187788922	chr13:89852924-89852925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs192224221	chr13:89852955-89852956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs547919526	chr13:89853009-89853010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530092759	chr13:89853058-89853059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7334436	chr13:89853098-89853099	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs551521363	chr13:89853130-89853131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs79921309	chr13:89853134-89853135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs537368117	chr13:89853135-89853136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184380997	chr13:89853188-89853189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573906801	chr13:89853203-89853204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545267083	chr13:89853223-89853224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188689199	chr13:89853254-89853255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs9301545	chr13:89853255-89853256	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs577705678	chr13:89853261-89853262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545072307	chr13:89853278-89853279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540427402	chr13:89853294-89853295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563164036	chr13:89853330-89853331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs114175698	chr13:89853377-89853378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542957820	chr13:89853405-89853406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs146887347	chr13:89853407-89853408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192677537	chr13:89853409-89853410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534288736	chr13:89853417-89853418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs140788060	chr13:89853422-89853423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs76839926	chr13:89853423-89853424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs184614871	chr13:89853425-89853426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551825991	chr13:89853428-89853429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569967873	chr13:89853429-89853430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570963959	chr13:89853438-89853439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189081724	chr13:89853443-89853444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536761508	chr13:89853450-89853451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs180758725	chr13:89853461-89853462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs567666368	chr13:89853468-89853469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556731174	chr13:89853528-89853529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186318217	chr13:89853567-89853568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189161904	chr13:89853585-89853586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs573549548	chr13:89853606-89853607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181554416	chr13:89853709-89853710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Mental retardation	17847001	CNVD
Medulloblastoma	19270706	CNVD
Myelofibrosis	22110671	CNVD
coloboma	21285886	CNVD
Cancer	20164920	CNVD
Non-small cell lung cancer	16651412	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:89851800-89852800	Enhancers	NHEK	skin
2	chr13:89852200-89852800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr13:89852800-89857200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr13:89857200-89858000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr13:89858000-89858600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr13:89858000-89858600	Enhancers	Fetal Lung	lung
7	chr13:89858200-89858600	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr13:89860400-89861200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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