Variant report

Variant	nsv561696
Chromosome Location	chr13:54238301-54246729
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9527121	chr13:54238301-54238302	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs142175156	chr13:54238312-54238313	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs370709498	chr13:54238325-54238326	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs550120410	chr13:54238391-54238392	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs146371644	chr13:54238487-54238488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs114141631	chr13:54238513-54238514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552733884	chr13:54238524-54238525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547501379	chr13:54238559-54238560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567394385	chr13:54238679-54238680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530235718	chr13:54238681-54238682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374057085	chr13:54238686-54238687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs138390130	chr13:54238768-54238769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs1577740	chr13:54238787-54238788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181247637	chr13:54238800-54238801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141649573	chr13:54238816-54238817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567458179	chr13:54238842-54238843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs35970755	chr13:54238856-54238857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536588192	chr13:54238875-54238876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs118097048	chr13:54238878-54238879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576210957	chr13:54238894-54238895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186002549	chr13:54238895-54238896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558244465	chr13:54238898-54238899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370414427	chr13:54238990-54238991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs190585003	chr13:54239051-54239052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561588837	chr13:54239095-54239096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373582167	chr13:54239101-54239102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs144471635	chr13:54239108-54239109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs148414678	chr13:54239127-54239128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544144456	chr13:54239159-54239160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563710426	chr13:54239207-54239208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs142505114	chr13:54239220-54239221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs182762963	chr13:54239237-54239238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150597188	chr13:54239260-54239261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528452797	chr13:54239300-54239301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs140584110	chr13:54239317-54239318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369081703	chr13:54239388-54239389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs67717657	chr13:54239389-54239390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186290873	chr13:54239426-54239427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs9536510	chr13:54239440-54239441	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs536133233	chr13:54239454-54239455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs144486089	chr13:54239476-54239477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs115621260	chr13:54239478-54239479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191793648	chr13:54239542-54239543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183027642	chr13:54239575-54239576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534568944	chr13:54239577-54239578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs554706706	chr13:54239616-54239617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375454507	chr13:54239665-54239666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs571819291	chr13:54239677-54239678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs147828172	chr13:54239693-54239694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368364015	chr13:54239694-54239695	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
Schizophrenia	23813976	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:54238200-54238400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
2	chr13:54238400-54240600	Weak transcription	H1 Cell Line	embryonic stem cell

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