Variant report

Variant	nsv964540
Chromosome Location	chr21:28463562-28467460
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ADAMTS5-3	chr21:28464268-28464333	ucscGeneNc_uc002yml_2
2	lnc-ADAMTS5-3	chr21:28464268-28464333	NONHSAT081561
3	lnc-ADAMTS5-3	chr21:28464268-28464333	NONHSAT081559

Extended variants
information (count: 139 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:139 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1888430	chr21:28463564-28463565	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs565735961	chr21:28463575-28463576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs17660254	chr21:28463637-28463638	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs557849209	chr21:28463782-28463783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201826766	chr21:28463825-28463826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs150760853	chr21:28463838-28463839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375275704	chr21:28463857-28463858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537129463	chr21:28463866-28463867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs187949220	chr21:28463871-28463872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564105407	chr21:28463875-28463876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs73363628	chr21:28463935-28463936	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs543316282	chr21:28463992-28463993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553656303	chr21:28464007-28464008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs2830679	chr21:28464041-28464042	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs2040243	chr21:28464068-28464069	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs138088409	chr21:28464072-28464073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575343408	chr21:28464091-28464092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542669543	chr21:28464151-28464152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543962053	chr21:28464175-28464176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561143926	chr21:28464176-28464177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529801839	chr21:28464219-28464220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538643574	chr21:28464271-28464272	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs546508903	chr21:28464284-28464285	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs191846110	chr21:28464292-28464293	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs149548510	chr21:28464294-28464295	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs551391412	chr21:28464328-28464329	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs571306585	chr21:28464334-28464335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537593766	chr21:28464362-28464363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550758655	chr21:28464365-28464366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567850901	chr21:28464373-28464374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs536418036	chr21:28464389-28464390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs116797623	chr21:28464401-28464402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573607192	chr21:28464410-28464411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567915597	chr21:28464411-28464412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs571116896	chr21:28464425-28464426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs117028221	chr21:28464453-28464454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558626024	chr21:28464515-28464516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs17660338	chr21:28464539-28464540	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs376047332	chr21:28464598-28464599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553679860	chr21:28464637-28464638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560790389	chr21:28464729-28464730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547503486	chr21:28464732-28464733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs144132242	chr21:28464735-28464736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200157265	chr21:28464819-28464820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs71183598	chr21:28464823-28464824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs77370403	chr21:28464855-28464856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559896567	chr21:28464879-28464880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs368603696	chr21:28464919-28464920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552045736	chr21:28464978-28464979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188877744	chr21:28465004-28465005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Down syndrome	17412756	CNVD
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell lymphomas	19863542	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Renal cell carcinoma	19461508	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Metanephric adenoma	20802469	CNVD
Neuroblastoma	18923191	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Alzheimer''s disease	18923514	CNVD
Alzheimer''s disease	20877625	CNVD
Follicular lymphoma	20505157	CNVD
Alzheimer''s disease	21956041	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Melanoma	18172304	CNVD
Autism	22958593	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute myeloid leukemia	21251322	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	22174824	CNVD
Renal cell carcinoma	18765545	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28447400-28467200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr21:28458800-28477600	Weak transcription	Fetal Kidney	kidney
3	chr21:28462400-28466800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr21:28463000-28466600	Weak transcription	Adipose Nuclei	Adipose
5	chr21:28466400-28466800	Enhancers	Ovary	ovary
6	chr21:28466600-28466800	Enhancers	Adipose Nuclei	Adipose
7	chr21:28466800-28467200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr21:28466800-28467200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr21:28466800-28467200	Flanking Active TSS	Adipose Nuclei	Adipose
10	chr21:28467000-28467600	Active TSS	Ovary	ovary
11	chr21:28467200-28467400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr21:28467200-28467400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr21:28467200-28467400	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr21:28467200-28467400	Enhancers	Adipose Nuclei	Adipose

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