Variant report

Variant	nsv974203
Chromosome Location	chr13:53835362-53839610
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 145 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:145 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559211154	chr13:53835420-53835421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs549153363	chr13:53835474-53835475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565985404	chr13:53835488-53835489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534717600	chr13:53835492-53835493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs554507261	chr13:53835558-53835559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs574476443	chr13:53835601-53835602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs55915021	chr13:53835602-53835603	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs557165864	chr13:53835639-53835640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs576196318	chr13:53835649-53835650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs7318473	chr13:53835665-53835666	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs565201767	chr13:53835711-53835712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs188529163	chr13:53835713-53835714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs9563146	chr13:53835721-53835722	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs560893342	chr13:53835759-53835760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs181558914	chr13:53835792-53835793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs549887339	chr13:53835794-53835795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs148178513	chr13:53835796-53835797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs56963510	chr13:53835800-53835801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs185736143	chr13:53835857-53835858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs7317854	chr13:53835889-53835890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs532742389	chr13:53835900-53835901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs190726967	chr13:53835953-53835954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs540810432	chr13:53835966-53835967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs566047462	chr13:53835972-53835973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs9563147	chr13:53835990-53835991	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs554840099	chr13:53835995-53835996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs145150097	chr13:53836080-53836081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537011411	chr13:53836180-53836181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs115780022	chr13:53836274-53836275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182229999	chr13:53836305-53836306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs1322950	chr13:53836325-53836326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187328788	chr13:53836334-53836335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs190951465	chr13:53836362-53836363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572250113	chr13:53836460-53836461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs76278937	chr13:53836486-53836487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561154701	chr13:53836513-53836514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574381519	chr13:53836532-53836533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543002434	chr13:53836553-53836554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs544395112	chr13:53836604-53836605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369776348	chr13:53836605-53836606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563418619	chr13:53836612-53836613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562858130	chr13:53836618-53836619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150950963	chr13:53836630-53836631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs9568834	chr13:53836655-53836656	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs74086930	chr13:53836656-53836657	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs528652970	chr13:53836665-53836666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs76007339	chr13:53836667-53836668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs115805546	chr13:53836685-53836686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs139504583	chr13:53836689-53836690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs182294816	chr13:53836735-53836736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:112)

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
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	19242612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Multiple myeloma	19135901	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Prostate cancer	16461572	CNVD
Merkel cell carcinoma	19020549	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21858162	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	17237825	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	18852474	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Urothelial carcinoma	21177765	CNVD
Schizophrenia	20967226	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:53834200-53835400	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr13:53834600-53836000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr13:53835200-53836000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr13:53836000-53843800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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