Variant report

Variant	nsv1047774
Chromosome Location	chr13:76655992-76682240
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 98 )

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	rs529257688	chr13:76657013-76657014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs75702928	chr13:76657029-76657030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs61336859	chr13:76657034-76657035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs369035562	chr13:76657036-76657037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs372097473	chr13:76657041-76657042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs181553554	chr13:76657053-76657054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs1396677	chr13:76657107-76657108	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs147100049	chr13:76657130-76657131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs186032050	chr13:76657161-76657162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs188395620	chr13:76657162-76657163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs567164396	chr13:76657218-76657219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs181469268	chr13:76657225-76657226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs138480255	chr13:76657231-76657232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs143950960	chr13:76657295-76657296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs185809838	chr13:76657302-76657303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs545273530	chr13:76657304-76657305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs190960009	chr13:76657334-76657335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs1411484	chr13:76657376-76657377	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs35320287	chr13:76657396-76657397	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs563319805	chr13:76660807-76660808	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs530115687	chr13:76660863-76660864	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs186417897	chr13:76660868-76660869	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs1074098	chr13:76660914-76660915	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs2328970	chr13:76660950-76660951	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs142313843	chr13:76660987-76660988	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs567664641	chr13:76660988-76660989	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs146036036	chr13:76661005-76661006	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs371629501	chr13:76661033-76661034	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs535260992	chr13:76661061-76661062	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs553285154	chr13:76661079-76661080	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs112596740	chr13:76661080-76661081	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs189778769	chr13:76661099-76661100	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs149728094	chr13:76661130-76661131	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs561866999	chr13:76661140-76661141	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs545355428	chr13:76661216-76661217	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs564081908	chr13:76661242-76661243	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs572799736	chr13:76661245-76661246	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs539397196	chr13:76661246-76661247	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs561717831	chr13:76661263-76661264	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs529049657	chr13:76661283-76661284	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs180856189	chr13:76661316-76661317	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs563725267	chr13:76661353-76661354	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs530935943	chr13:76661357-76661358	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs527833947	chr13:76661390-76661391	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs184521928	chr13:76669853-76669854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs540226986	chr13:76669856-76669857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs555689067	chr13:76669883-76669884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs9544154	chr13:76669885-76669886	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs544438911	chr13:76669899-76669900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs563110438	chr13:76669908-76669909	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
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
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	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
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	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
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hirschsprung''s Disease	21712996	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Intracranial aneurysm	16715129	CNVD
Non-small cell lung cancer	19010865	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76657000-76657400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr13:76660800-76661000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr13:76660800-76661400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr13:76660800-76661400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr13:76669800-76670200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links