Variant report

Variant	nsv597026
Chromosome Location	chr5:8013893-8016059
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:8008383..8010769-chr5:8012694..8014385,2	K562	blood:
2	chr5:7990734..7993974-chr5:8011834..8015550,5	K562	blood:
3	chr5:8005906..8008212-chr5:8012967..8015085,2	K562	blood:
4	chr5:8011424..8014393-chr5:8015605..8017261,2	K562	blood:
5	chr5:8011424..8014393-chr5:8015605..8017261,2	K562	blood:
6	chr5:8012836..8015830-chr5:9202478..9204498,2	K562	blood:
7	chr5:8003382..8004914-chr5:8014701..8016204,2	K562	blood:

Extended variants
information (count: 66 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1993220	chr5:8013893-8013894	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs559602137	chr5:8013910-8013911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs182587823	chr5:8013918-8013919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs542133437	chr5:8013965-8013966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs532957051	chr5:8013980-8013981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs186961646	chr5:8014026-8014027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs1453354	chr5:8014082-8014083	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs148094913	chr5:8014084-8014085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs117807636	chr5:8014125-8014126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs532490220	chr5:8014127-8014128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs552339193	chr5:8014128-8014129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs111432618	chr5:8014163-8014164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs142341361	chr5:8014176-8014177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs535005035	chr5:8014181-8014182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs79077049	chr5:8014187-8014188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs568672403	chr5:8014200-8014201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs537007680	chr5:8014265-8014266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs183662780	chr5:8014270-8014271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs146915640	chr5:8014278-8014279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs539573839	chr5:8014327-8014328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs553179555	chr5:8014346-8014347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs35110651	chr5:8014349-8014350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs139306474	chr5:8014355-8014356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs11134270	chr5:8014373-8014374	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs188939178	chr5:8014385-8014386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs575452180	chr5:8014388-8014389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs543770398	chr5:8014422-8014423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs143215481	chr5:8014452-8014453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs532449588	chr5:8014454-8014455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs13162575	chr5:8014517-8014518	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs113312551	chr5:8014540-8014541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs558823101	chr5:8014569-8014570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs569628032	chr5:8014623-8014624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs13167036	chr5:8014665-8014666	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs114281297	chr5:8014699-8014700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs568710408	chr5:8014756-8014757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs537361850	chr5:8014783-8014784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs113424550	chr5:8014852-8014853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs550578314	chr5:8014858-8014859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs17248894	chr5:8014895-8014896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs112666215	chr5:8014903-8014904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs113601341	chr5:8014929-8014930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs138477114	chr5:8014982-8014983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs17195685	chr5:8015032-8015033	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs572860278	chr5:8015100-8015101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs114560305	chr5:8015106-8015107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs112130622	chr5:8015145-8015146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs555292656	chr5:8015173-8015174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs575460862	chr5:8015183-8015184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs193264088	chr5:8015201-8015202	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
early-passage human iPS cells	21368824	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:8011800-8015400	Enhancers	K562	blood
2	chr5:8013800-8015600	Enhancers	Primary B cells from peripheral blood	blood
3	chr5:8014000-8015200	Enhancers	Fetal Lung	lung
4	chr5:8014000-8015600	Enhancers	Primary B cells from cord blood	blood
5	chr5:8014200-8015400	Enhancers	H9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links