Variant report

Variant	nsv522396
Chromosome Location	chr13:67738742-67740758
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2987334	chr13:67738742-67738743	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs554154712	chr13:67738743-67738744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550859648	chr13:67738747-67738748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs138194250	chr13:67738787-67738788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2987335	chr13:67738902-67738903	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs572833170	chr13:67738919-67738920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs546928510	chr13:67738989-67738990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191620322	chr13:67739025-67739026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571987218	chr13:67739038-67739039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539103265	chr13:67739046-67739047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182640072	chr13:67739077-67739078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577906792	chr13:67739159-67739160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs79768641	chr13:67739191-67739192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs370401185	chr13:67739199-67739200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557299997	chr13:67739224-67739225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573833340	chr13:67739240-67739241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542280124	chr13:67739279-67739280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559266499	chr13:67739329-67739330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs186647828	chr13:67739361-67739362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374163140	chr13:67739432-67739433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376915342	chr13:67739438-67739439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544683977	chr13:67739464-67739465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565186829	chr13:67739527-67739528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558837120	chr13:67739549-67739550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs9541025	chr13:67739561-67739562	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs531643935	chr13:67739590-67739591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370926035	chr13:67739620-67739621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191117407	chr13:67739691-67739692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs141251874	chr13:67739705-67739706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542525985	chr13:67739726-67739727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543704199	chr13:67739741-67739742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539180682	chr13:67739778-67739779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577019846	chr13:67739794-67739795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs74095378	chr13:67739810-67739811	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs183625796	chr13:67739858-67739859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs74095379	chr13:67739885-67739886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs74095381	chr13:67739886-67739887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs115711315	chr13:67739908-67739909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs373158708	chr13:67739909-67739910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536530615	chr13:67739950-67739951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190265166	chr13:67739952-67739953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs552721017	chr13:67739976-67739977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548437107	chr13:67740007-67740008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572503093	chr13:67740026-67740027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145053445	chr13:67740128-67740129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558240282	chr13:67740179-67740180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs117457406	chr13:67740226-67740227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs544428307	chr13:67740243-67740244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs561500975	chr13:67740245-67740246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs3013574	chr13:67740271-67740272	Weak transcription 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
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
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	20606397	CNVD
Prostate cancer	16461572	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Prostate cancer	22341455	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:67731000-67751600	Weak transcription	Brain Anterior Caudate	brain
2	chr13:67731400-67795400	Weak transcription	Primary B cells from cord blood	blood
3	chr13:67735800-67748600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr13:67735800-67749200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr13:67736200-67740200	Weak transcription	Brain Substantia Nigra	brain
6	chr13:67736800-67744200	Weak transcription	Left Ventricle	heart
7	chr13:67737200-67741800	Weak transcription	Brain Hippocampus Middle	brain
8	chr13:67740200-67741200	Enhancers	Brain Substantia Nigra	brain
9	chr13:67740400-67740600	Enhancers	Pancreatic Islets	Pancreatic Islet

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