Variant report

Variant	esv3404656
Chromosome Location	chr5:2161102-2162250
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:2158940..2162569-chr5:2167840..2169762,3	K562	blood:
2	chr5:2157501..2159114-chr5:2160612..2162756,2	K562	blood:
3	chr5:2147549..2149132-chr5:2161047..2163097,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531877506	chr5:2161219-2161220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs185099014	chr5:2161239-2161240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs111162243	chr5:2161330-2161331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs111162244	chr5:2161335-2161336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552683438	chr5:2161337-2161338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs150794207	chr5:2161338-2161339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs139184352	chr5:2161339-2161340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs371510392	chr5:2161398-2161399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs111217375	chr5:2161406-2161407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs11959331	chr5:2161469-2161470	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs375733603	chr5:2161544-2161545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535264955	chr5:2161668-2161669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553678768	chr5:2161679-2161680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs575153945	chr5:2161708-2161709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs192692974	chr5:2161715-2161716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557007501	chr5:2161734-2161735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556640822	chr5:2161737-2161738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs11746469	chr5:2161739-2161740	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs545571556	chr5:2161759-2161760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs114461345	chr5:2161787-2161788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs572931934	chr5:2161816-2161817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542157914	chr5:2161837-2161838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561559526	chr5:2161855-2161856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529112217	chr5:2161879-2161880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550463162	chr5:2161944-2161945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs149957891	chr5:2161967-2161968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530971500	chr5:2161994-2161995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552373371	chr5:2162038-2162039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570950427	chr5:2162060-2162061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558377672	chr5:2162119-2162120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576967400	chr5:2162144-2162145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs10062483	chr5:2162152-2162153	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs115883017	chr5:2162153-2162154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568676818	chr5:2162211-2162212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:110)

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
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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:2158000-2171000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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