Variant report

Variant	nsv526754
Chromosome Location	chr5:8439356-8440728
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:8435771..8437570-chr5:8440279..8442267,2	K562	blood:
2	chr5:8436070..8438257-chr5:8440471..8442267,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FASTKD3-1	chr5:8440640-8440822	ucscGeneNc_uc003jeh_1

Extended variants
information (count: 53 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4461605	chr5:8439356-8439357	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs72733855	chr5:8439398-8439399	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs548346502	chr5:8439427-8439428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147764215	chr5:8439428-8439429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184220644	chr5:8439435-8439436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs141100724	chr5:8439464-8439465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs576267201	chr5:8439498-8439499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201100146	chr5:8439511-8439512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs138866840	chr5:8439512-8439513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs35096437	chr5:8439513-8439514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs143622660	chr5:8439519-8439520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs34108467	chr5:8439532-8439533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539372192	chr5:8439613-8439614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552826134	chr5:8439642-8439643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200760807	chr5:8439654-8439655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs12187557	chr5:8439670-8439671	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs373060934	chr5:8439678-8439679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371688962	chr5:8439681-8439682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554687007	chr5:8439698-8439699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574837219	chr5:8439734-8439735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189532500	chr5:8439758-8439759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111909649	chr5:8439774-8439775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112881691	chr5:8439790-8439791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs148058557	chr5:8439815-8439816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531456929	chr5:8439867-8439868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563755448	chr5:8439869-8439870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577348240	chr5:8439903-8439904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs10512960	chr5:8439926-8439927	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs374884728	chr5:8439927-8439928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560080246	chr5:8439928-8439929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561721807	chr5:8439943-8439944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548211740	chr5:8440027-8440028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561628267	chr5:8440045-8440046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs367851463	chr5:8440059-8440060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530534903	chr5:8440073-8440074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141759890	chr5:8440146-8440147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570581252	chr5:8440163-8440164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539602909	chr5:8440252-8440253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546527364	chr5:8440357-8440358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs566423110	chr5:8440371-8440372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs193028416	chr5:8440397-8440398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560186825	chr5:8440424-8440425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554562076	chr5:8440444-8440445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536914732	chr5:8440454-8440455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537180462	chr5:8440455-8440456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557413763	chr5:8440490-8440491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs111648410	chr5:8440513-8440514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs527896984	chr5:8440578-8440579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs150128598	chr5:8440583-8440584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10063659	chr5:8440627-8440628	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:104)

Disease	PMID	Source
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Cervical squamous cell carcinoma	21590768	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
Ovarian clear cell carcinoma	19293255	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Ovarian cancer	19193619	CNVD
Hepatocellular carcinoma	16785998	CNVD
Cancer	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Intellectual disability	22102821	CNVD
Myelofibrosis	22110671	CNVD
Cri-du chat syndrome	16773131	CNVD
Cryptorchidism	21048976	CNVD
Glioblastoma multiforme	22286061	CNVD
Cervical cancer	16585170	CNVD
Mental retardation	16773131	CNVD
Non-small cell lung cancer	21829676	CNVD
Cri-du chat syndrome	22470819	CNVD
sporadic birth defects	19047251	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:8438200-8446200	Weak transcription	Pancreatic Islets	Pancreatic Islet

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