Variant report

Variant	nsv9076
Chromosome Location	chr13:63871206-63873350
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536884993	chr13:63872604-63872605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs386771669	chr13:63872611-63872612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs35861625	chr13:63872633-63872634	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs369597381	chr13:63872640-63872641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs541337000	chr13:63872654-63872655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs188359720	chr13:63872716-63872717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs192591738	chr13:63872741-63872742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs144590504	chr13:63872743-63872744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs370429716	chr13:63872747-63872748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs531927297	chr13:63872756-63872757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs550426169	chr13:63872772-63872773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs573710301	chr13:63872774-63872775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs529525905	chr13:63872795-63872796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs145168858	chr13:63873007-63873008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs150575396	chr13:63873045-63873046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs139572362	chr13:63873050-63873051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143229796	chr13:63873072-63873073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534570113	chr13:63873094-63873095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs298829	chr13:63873136-63873137	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs560511027	chr13:63873140-63873141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs74796268	chr13:63873155-63873156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs7317512	chr13:63873165-63873166	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs189039991	chr13:63873184-63873185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs146700896	chr13:63873190-63873191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542759600	chr13:63873217-63873218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562100127	chr13:63873265-63873266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574011867	chr13:63873284-63873285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113890253	chr13:63873290-63873291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs184836297	chr13:63873313-63873314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560033392	chr13:63873327-63873328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Myelofibrosis	22110671	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:63872600-63872800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr13:63873000-63873800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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