Variant report

Variant	nsv561919
Chromosome Location	chr13:64224859-64233945
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 136 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:136 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9592287	chr13:64224859-64224860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs67433745	chr13:64224861-64224862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs199849820	chr13:64224863-64224864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs545333298	chr13:64224869-64224870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs60469055	chr13:64224875-64224876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs370651192	chr13:64224889-64224890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs142304502	chr13:64224914-64224915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553986855	chr13:64224922-64224923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs181778417	chr13:64224930-64224931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs17368232	chr13:64224949-64224950	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs115831860	chr13:64225005-64225006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556682886	chr13:64225051-64225052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs151249040	chr13:64225171-64225172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs2590923	chr13:64225188-64225189	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs2590924	chr13:64225189-64225190	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs527726763	chr13:64225192-64225193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs111487109	chr13:64225208-64225209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185174056	chr13:64225220-64225221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577323737	chr13:64225231-64225232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531796877	chr13:64225279-64225280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs141417961	chr13:64225288-64225289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs529065131	chr13:64225295-64225296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs374828603	chr13:64225357-64225358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs372916115	chr13:64225390-64225391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs377615725	chr13:64225394-64225395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs2590925	chr13:64225427-64225428	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs73189447	chr13:64225538-64225539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111844793	chr13:64225602-64225603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs114243187	chr13:64225629-64225630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557742820	chr13:64225648-64225649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571097270	chr13:64225677-64225678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190901110	chr13:64225683-64225684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182761315	chr13:64225687-64225688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188129136	chr13:64225736-64225737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575011266	chr13:64225790-64225791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs73500753	chr13:64225807-64225808	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs554049024	chr13:64225846-64225847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559682338	chr13:64225863-64225864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191402862	chr13:64225892-64225893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545809322	chr13:64225912-64225913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369189166	chr13:64225914-64225915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564114714	chr13:64225938-64225939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531589481	chr13:64225950-64225951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs543932687	chr13:64225970-64225971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374462255	chr13:64226017-64226018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562034636	chr13:64226088-64226089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs143102591	chr13:64226118-64226119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547565808	chr13:64226144-64226145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565986169	chr13:64226156-64226157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs533226049	chr13:64226165-64226166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
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
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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:64224400-64227200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr13:64227200-64227400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr13:64233000-64233600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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