Variant report

Variant	nsv528825
Chromosome Location	chr13:65227775-65229479
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 94 )

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	rs17070440	chr13:65227775-65227776	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs372232303	chr13:65227808-65227809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs202100831	chr13:65227833-65227834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs144596381	chr13:65227834-65227835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536051265	chr13:65227841-65227842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186362810	chr13:65227853-65227854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs57421463	chr13:65227856-65227857	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs190105983	chr13:65227857-65227858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs142148414	chr13:65227892-65227893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576737167	chr13:65227900-65227901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs74089209	chr13:65227904-65227905	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs557354416	chr13:65227919-65227920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575835141	chr13:65227966-65227967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369941196	chr13:65228023-65228024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574537738	chr13:65228044-65228045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561096373	chr13:65228098-65228099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528570853	chr13:65228116-65228117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540293965	chr13:65228201-65228202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs367611913	chr13:65228210-65228211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs9540179	chr13:65228229-65228230	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs181707519	chr13:65228234-65228235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569057242	chr13:65228236-65228237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372778391	chr13:65228271-65228272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529953076	chr13:65228276-65228277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548414038	chr13:65228282-65228283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs143762793	chr13:65228356-65228357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12431365	chr13:65228358-65228359	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs148124002	chr13:65228369-65228370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs76465922	chr13:65228373-65228374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs359347	chr13:65228418-65228419	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs28495928	chr13:65228462-65228463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs368615506	chr13:65228475-65228476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186002163	chr13:65228503-65228504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs575848766	chr13:65228504-65228505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs572278216	chr13:65228516-65228517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370391608	chr13:65228524-65228525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs573485630	chr13:65228533-65228534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542872478	chr13:65228619-65228620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs9540180	chr13:65228629-65228630	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs117625948	chr13:65228682-65228683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs191211785	chr13:65228710-65228711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs28733604	chr13:65228734-65228735	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs28756222	chr13:65228737-65228738	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs7984340	chr13:65228809-65228810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs183820039	chr13:65228819-65228820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs9598823	chr13:65228854-65228855	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs371042118	chr13:65228883-65228884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs141883617	chr13:65228983-65228984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs560419173	chr13:65229014-65229015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs188882693	chr13:65229038-65229039	Weak transcription Enhancers	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	20606397	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:65218200-65236800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr13:65228600-65231000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links