Variant report

Variant	nsv969198
Chromosome Location	chr5:7954686-7963307
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:54219998..54220671-chr5:7961911..7962788,2	Hela-S3	cervix:
2	chr5:7951526..7954393-chr5:7958036..7960440,2	K562	blood:
3	chr5:7870008..7871996-chr5:7953650..7955606,2	K562	blood:

Variant related genes	Relation type
ENSG00000124275	chromatin interactions

Extended variants
information (count: 93 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545783803	chr5:7954701-7954702	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs530183834	chr5:7954737-7954738	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs184364993	chr5:7954741-7954742	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs140552371	chr5:7954762-7954763	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs162448	chr5:7954777-7954778	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs530572494	chr5:7954787-7954788	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs369469495	chr5:7954804-7954805	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs570405172	chr5:7954811-7954812	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs113116606	chr5:7954898-7954899	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs112600747	chr5:7954932-7954933	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs565973044	chr5:7954942-7954943	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs141246996	chr5:7955027-7955028	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs554736804	chr5:7955040-7955041	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs569952402	chr5:7955043-7955044	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs537228655	chr5:7955051-7955052	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs578185353	chr5:7955057-7955058	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs574987447	chr5:7955086-7955087	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs16879549	chr5:7955102-7955103	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs557626051	chr5:7955109-7955110	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs184562932	chr5:7955132-7955133	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs546215654	chr5:7955149-7955150	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs76849824	chr5:7955171-7955172	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs2963700	chr5:7955228-7955229	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs189025586	chr5:7955237-7955238	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs181423031	chr5:7955266-7955267	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs2963701	chr5:7955270-7955271	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs186412774	chr5:7955277-7955278	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs530560123	chr5:7955280-7955281	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs550358226	chr5:7955297-7955298	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs368993908	chr5:7955309-7955310	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs2968314	chr5:7955310-7955311	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs2968315	chr5:7955435-7955436	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs2938242	chr5:7955441-7955442	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs113798358	chr5:7955469-7955470	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs533239659	chr5:7955474-7955475	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs2938243	chr5:7955475-7955476	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs546542631	chr5:7955488-7955489	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs566779578	chr5:7955507-7955508	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs150860320	chr5:7955573-7955574	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs548609597	chr5:7955574-7955575	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs556454387	chr5:7955606-7955607	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs572491417	chr5:7961007-7961008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs539510771	chr5:7961067-7961068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs557544132	chr5:7961119-7961120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs140048453	chr5:7961143-7961144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs370855557	chr5:7961190-7961191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs143729839	chr5:7961196-7961197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs11326422	chr5:7961197-7961198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs60573803	chr5:7961211-7961212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs199918744	chr5:7961212-7961213	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Lung cancer	21911935	CNVD
Cri-du chat syndrome	21549014	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
abnormal development	18461090	CNVD
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	17550852	CNVD
Developmental delay	21147756	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Melanoma	22183965	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Ovarian cancer	19193619	CNVD
Hepatocellular carcinoma	16785998	CNVD
Cancer	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Intellectual disability	22102821	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:7961000-7962400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:7961600-7962000	Enhancers	Ovary	ovary

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