Variant report

Variant	nsv518287
Chromosome Location	chr13:61867724-61873379
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 91 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77132254	chr13:61868400-61868401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs117481820	chr13:61868428-61868429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs546096189	chr13:61868460-61868461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs564187932	chr13:61868499-61868500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs548674613	chr13:61868501-61868502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs543210011	chr13:61868578-61868579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs561488161	chr13:61868657-61868658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs376309825	chr13:61868664-61868665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs61953056	chr13:61868667-61868668	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs191276901	chr13:61868675-61868676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs117982446	chr13:61868677-61868678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs571581444	chr13:61868685-61868686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs183637917	chr13:61868686-61868687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs552059530	chr13:61868687-61868688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs188399618	chr13:61868740-61868741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs537686353	chr13:61868757-61868758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs537699443	chr13:61868758-61868759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs567792728	chr13:61868762-61868763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs535145859	chr13:61868783-61868784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs553471307	chr13:61868784-61868785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs573616808	chr13:61868798-61868799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs540742114	chr13:61869025-61869026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs559143828	chr13:61869036-61869037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs189917500	chr13:61869046-61869047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs551083946	chr13:61869050-61869051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs570365049	chr13:61869052-61869053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs182137823	chr13:61869082-61869083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs73500341	chr13:61869093-61869094	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs567875814	chr13:61869106-61869107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs148925535	chr13:61869145-61869146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs34411510	chr13:61869192-61869193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs535188217	chr13:61869338-61869339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs547074526	chr13:61869362-61869363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs9539097	chr13:61869369-61869370	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs117770791	chr13:61869391-61869392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs9539098	chr13:61869410-61869411	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs35093609	chr13:61869420-61869421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs1854763	chr13:61869421-61869422	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs555206427	chr13:61869526-61869527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs573508819	chr13:61869532-61869533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs147040652	chr13:61869542-61869543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs1854764	chr13:61869551-61869552	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs74988588	chr13:61869571-61869572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs372469666	chr13:61869573-61869574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs375153731	chr13:61869574-61869575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs201035148	chr13:61869576-61869577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs577654787	chr13:61869629-61869630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs117475904	chr13:61869652-61869653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs375774265	chr13:61869668-61869669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs377533351	chr13:61869673-61869674	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Merkel cell carcinoma	19020549	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21858162	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	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
head and neck squamous cell carcinoma	17671120	CNVD
Colorectal cancer	16774939	CNVD
Adenoid cystic carcinoma	17372589	CNVD
abnormal development	18461090	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Esophageal squamous carcinoma	20200074	CNVD
Myelofibrosis	22110671	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Bipolar disorder	19214233	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:61868400-61868800	Enhancers	Fetal Kidney	kidney
2	chr13:61869000-61870200	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr13:61872400-61873000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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