Variant report

Variant	nsv980707
Chromosome Location	chr5:99667285-99709623
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 115 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:115 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370933020	chr5:99687647-99687648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs559153340	chr5:99687739-99687740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs532983896	chr5:99687822-99687823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs551143458	chr5:99687840-99687841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs569652551	chr5:99687957-99687958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs397844022	chr5:99696414-99696415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs77352306	chr5:99696427-99696428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs577490270	chr5:99696436-99696437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs377291923	chr5:99696462-99696463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs369647221	chr5:99696463-99696464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs181112344	chr5:99696464-99696465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs550387885	chr5:99696467-99696468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs186310821	chr5:99696473-99696474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs549208870	chr5:99696474-99696475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs562034343	chr5:99696506-99696507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs529442185	chr5:99696510-99696511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs547791720	chr5:99696537-99696538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs566101469	chr5:99696560-99696561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs116064876	chr5:99696570-99696571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs568959966	chr5:99696571-99696572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs551795739	chr5:99696594-99696595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs562966563	chr5:99699808-99699809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs151320005	chr5:99699851-99699852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs188548013	chr5:99699888-99699889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs140589351	chr5:99699889-99699890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs112564814	chr5:99699901-99699902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs181353902	chr5:99699927-99699928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs2447771	chr5:99699931-99699932	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs549490972	chr5:99699948-99699949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs2447770	chr5:99699974-99699975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs537779506	chr5:99699984-99699985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs2447769	chr5:99700026-99700027	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs60036514	chr5:99700040-99700041	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs568177476	chr5:99700044-99700045	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs536307516	chr5:99700078-99700079	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs2617338	chr5:99700086-99700087	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs554646034	chr5:99700107-99700108	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs566670798	chr5:99700118-99700119	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs144070955	chr5:99700133-99700134	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs562432536	chr5:99700145-99700146	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs527875213	chr5:99700151-99700152	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs569342386	chr5:99700177-99700178	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs1841605	chr5:99700195-99700196	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs185135597	chr5:99700230-99700231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs7734705	chr5:99700233-99700234	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs115986641	chr5:99700249-99700250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs1841606	chr5:99700252-99700253	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs542491202	chr5:99700260-99700261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs560282201	chr5:99700271-99700272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs147433777	chr5:99700274-99700275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
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
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:99687600-99688000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:99696400-99696600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:99699800-99700000	Enhancers	Muscle Satellite Cultured Cells	--
4	chr5:99699800-99700400	Enhancers	A549	lung
5	chr5:99699800-99700400	Enhancers	NH-A	brain
6	chr5:99699800-99702000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr5:99700000-99700200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:99700000-99700200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
9	chr5:99700000-99700600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr5:99700200-99700400	Enhancers	Muscle Satellite Cultured Cells	--
11	chr5:99700200-99701000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:99700200-99701400	Enhancers	Osteobl	bone
13	chr5:99700400-99700600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
14	chr5:99700400-99700600	Flanking Active TSS	NH-A	brain
15	chr5:99700400-99701000	Enhancers	Fetal Lung	lung
16	chr5:99700400-99701200	Active TSS	A549	lung
17	chr5:99700600-99700800	Enhancers	Muscle Satellite Cultured Cells	--
18	chr5:99700600-99700800	Enhancers	NH-A	brain
19	chr5:99700800-99701000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
20	chr5:99700800-99701000	Flanking Active TSS	NH-A	brain
21	chr5:99701000-99701400	Enhancers	NH-A	brain
22	chr5:99701000-99702000	Enhancers	Muscle Satellite Cultured Cells	--
23	chr5:99701000-99702200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:99701200-99701400	Flanking Active TSS	A549	lung
25	chr5:99701800-99702200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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