Variant report

Variant	nsv823133
Chromosome Location	chr5:93049250-93051884
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568476079	chr5:93049260-93049261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs138382215	chr5:93049286-93049287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551343087	chr5:93049298-93049299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376517679	chr5:93049424-93049425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192249411	chr5:93049484-93049485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs185261962	chr5:93049513-93049514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187983471	chr5:93049571-93049572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535183960	chr5:93049579-93049580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554930249	chr5:93049594-93049595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs59459894	chr5:93049608-93049609	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs555413259	chr5:93049654-93049655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs371000193	chr5:93049704-93049705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs149256968	chr5:93049735-93049736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs564440098	chr5:93049745-93049746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs143597291	chr5:93049778-93049779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs35297922	chr5:93049787-93049788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192829748	chr5:93049835-93049836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs148069378	chr5:93049843-93049844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572314152	chr5:93049878-93049879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs142536041	chr5:93049891-93049892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs367710333	chr5:93049920-93049921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs370078761	chr5:93049956-93049957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528547046	chr5:93049957-93049958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548741280	chr5:93049980-93049981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562061087	chr5:93050161-93050162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs17083315	chr5:93050168-93050169	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs551281660	chr5:93050189-93050190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs371841240	chr5:93050293-93050294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571094121	chr5:93050303-93050304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs9285013	chr5:93050453-93050454	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs367898896	chr5:93050459-93050460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs372482739	chr5:93050460-93050461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs558469583	chr5:93050535-93050536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs377037633	chr5:93050540-93050541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs146006073	chr5:93050600-93050601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs535172231	chr5:93050609-93050610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs140058312	chr5:93050613-93050614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs75573312	chr5:93050647-93050648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs537412253	chr5:93050705-93050706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs184416901	chr5:93050776-93050777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs189352733	chr5:93050832-93050833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs540167335	chr5:93050885-93050886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs57058221	chr5:93050893-93050894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs180793337	chr5:93050908-93050909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs562719217	chr5:93050916-93050917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs542321789	chr5:93050917-93050918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs150812767	chr5:93050927-93050928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs531044355	chr5:93050993-93050994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs531859471	chr5:93051018-93051019	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs550927774	chr5:93051114-93051115	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:93038400-93076200	Weak transcription	Ovary	ovary
2	chr5:93038800-93050400	Weak transcription	Fetal Intestine Small	intestine
3	chr5:93040600-93088600	Weak transcription	Aorta	Aorta
4	chr5:93041000-93051400	Weak transcription	Fetal Heart	heart
5	chr5:93043000-93076400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr5:93045000-93073200	Weak transcription	Primary B cells from cord blood	blood
7	chr5:93049200-93052800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr5:93050200-93053000	Weak transcription	HUVEC	blood vessel
9	chr5:93050400-93052400	Enhancers	Fetal Intestine Small	intestine
10	chr5:93051000-93051200	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr5:93051000-93051800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:93051000-93052000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:93051000-93052800	Enhancers	HepG2	liver
14	chr5:93051000-93053200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:93051000-93053400	Enhancers	Fetal Intestine Large	intestine
16	chr5:93051200-93053000	Enhancers	Duodenum Mucosa	Duodenum
17	chr5:93051400-93051800	Enhancers	Fetal Heart	heart
18	chr5:93051400-93052200	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr5:93051800-93052000	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr5:93051800-93052800	Weak transcription	Fetal Heart	heart

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