Variant report

Variant	nsv964748
Chromosome Location	chr5:2018169-2021841
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:2019358..2022288-chr5:2024372..2025880,2	K562	blood:
2	chr5:1763854..1764458-chr5:2017408..2018220,3	K562	blood:
3	chr5:2015069..2018561-chr5:2019623..2022570,4	K562	blood:
4	chr5:2015069..2018561-chr5:2019623..2022570,4	K562	blood:

Extended variants
information (count: 213 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:213 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183517201	chr5:2018170-2018171	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs139543303	chr5:2018195-2018196	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs559416060	chr5:2018209-2018210	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529799933	chr5:2018253-2018254	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201850784	chr5:2018275-2018276	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547985021	chr5:2018279-2018280	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs186322684	chr5:2018298-2018299	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs149721014	chr5:2018303-2018304	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs117676606	chr5:2018304-2018305	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10060902	chr5:2018305-2018306	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs563289609	chr5:2018327-2018328	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530415693	chr5:2018332-2018333	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553933528	chr5:2018350-2018351	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191672393	chr5:2018355-2018356	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs536787128	chr5:2018356-2018357	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183476995	chr5:2018377-2018378	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs1552435	chr5:2018378-2018379	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs10076342	chr5:2018426-2018427	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs371375845	chr5:2018429-2018430	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188019450	chr5:2018447-2018448	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10060974	chr5:2018450-2018451	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs541031351	chr5:2018476-2018477	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537792524	chr5:2018477-2018478	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529739818	chr5:2018508-2018509	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192995692	chr5:2018550-2018551	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547926162	chr5:2018595-2018596	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563129496	chr5:2018623-2018624	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs901500	chr5:2018630-2018631	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs552150953	chr5:2018635-2018636	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs145623888	chr5:2018649-2018650	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528158492	chr5:2018650-2018651	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs182518890	chr5:2018658-2018659	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186760395	chr5:2018659-2018660	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371504338	chr5:2018669-2018670	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376094561	chr5:2018678-2018679	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs73033993	chr5:2018704-2018705	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs148911069	chr5:2018738-2018739	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs369740673	chr5:2018779-2018780	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111981081	chr5:2018780-2018781	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537667716	chr5:2018792-2018793	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201954384	chr5:2018810-2018811	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs71595089	chr5:2018838-2018839	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs112158846	chr5:2018846-2018847	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs558946958	chr5:2018847-2018848	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs71595090	chr5:2018862-2018863	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs112896569	chr5:2018866-2018867	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs113381327	chr5:2018873-2018874	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs541407754	chr5:2018883-2018884	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs71595091	chr5:2018892-2018893	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs113173496	chr5:2018910-2018911	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:115)

Disease	PMID	Source
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16608533	CNVD
Cervical cancer	16585170	CNVD
Glioblastoma multiforme	22286061	CNVD
Lung cancer	17925434	CNVD
Ovarian cancer	20844748	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	21829676	CNVD
Intracranial ependymoma	16609018	CNVD
Breast cancer	19181860	CNVD
prenatal diagnosis	20453657	CNVD
Developmental delay	19490664	CNVD
Human papillomavirus	17975027	CNVD
Acute monocytic leukemia	16498392	CNVD
Gastric cancer	16891809	CNVD
Intracranial aneurysm	16715129	CNVD
Emphysema	19352772	CNVD
Chordoma	18071362	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Lung cancer	21911935	CNVD
Cri-du chat syndrome	21549014	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
Oral cancer	22144094	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	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
Pleomorphic liposarcoma	18784837	CNVD
Developmental delay	21147756	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	21364760	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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Schizophrenia	23813976	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:2013800-2018800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr5:2014000-2020200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr5:2014800-2025000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr5:2016400-2021600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr5:2018800-2023800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr5:2020200-2021600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr5:2020600-2021000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:2020600-2021200	Enhancers	NHEK	skin
9	chr5:2021000-2021200	Enhancers	Esophagus	oesophagus
10	chr5:2021200-2022800	Weak transcription	NHEK	skin
11	chr5:2021600-2022600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr5:2021600-2022800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links