Variant report

Variant	nsv512637
Chromosome Location	chr21:37867927-37870843
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:37869833..37874104-chr21:37880007..37884528,4	MCF-7	breast:
2	chr21:37870153..37871908-chr21:37874667..37877544,3	K562	blood:

Extended variants
information (count: 136 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:136 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569456626	chr21:37867952-37867953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs545474009	chr21:37867954-37867955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552381497	chr21:37868039-37868040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565751059	chr21:37868069-37868070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs534872549	chr21:37868113-37868114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs58865958	chr21:37868124-37868125	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs143849495	chr21:37868138-37868139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs148638188	chr21:37868143-37868144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs115962362	chr21:37868202-37868203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570240528	chr21:37868210-37868211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs577305140	chr21:37868270-37868271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs545998977	chr21:37868271-37868272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182979469	chr21:37868299-37868300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs367717954	chr21:37868361-37868362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573359090	chr21:37868362-37868363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs117024128	chr21:37868393-37868394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs57400206	chr21:37868450-37868451	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs529634738	chr21:37868451-37868452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555402273	chr21:37868454-37868455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375350181	chr21:37868484-37868485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543042229	chr21:37868486-37868487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563220312	chr21:37868488-37868489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531380850	chr21:37868494-37868495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368247036	chr21:37868496-37868497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs4637212	chr21:37868578-37868579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs2409819	chr21:37868619-37868620	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs376895559	chr21:37868670-37868671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs368075377	chr21:37868673-37868674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs142137979	chr21:37868674-37868675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs61375055	chr21:37868720-37868721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555567072	chr21:37868735-37868736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs60272055	chr21:37868754-37868755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552618977	chr21:37868755-37868756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565829104	chr21:37868813-37868814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528335806	chr21:37868816-37868817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs58192378	chr21:37868817-37868818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs147376064	chr21:37868842-37868843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368865252	chr21:37868877-37868878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568392791	chr21:37868921-37868922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537429418	chr21:37868944-37868945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553220426	chr21:37868945-37868946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188047830	chr21:37868947-37868948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs139064577	chr21:37868983-37868984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201237895	chr21:37868990-37868991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370785055	chr21:37869034-37869035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs9980394	chr21:37869037-37869038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113069335	chr21:37869044-37869045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs141836490	chr21:37869045-37869046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs9980396	chr21:37869053-37869054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577740208	chr21:37869057-37869058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
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
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
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
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
Wilms tumour	21544195	CNVD
Ewing''s sarcoma	17952124	CNVD
Ovarian cancer	22174824	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	16864856	CNVD
Mental retardation	21031080	CNVD
Polymicrogyria	21031080	CNVD
periventricular nodular heterotopia	21031080	CNVD
Myelodysplastic syndrome	21606161	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Acute myeloid leukemia	17237825	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21858162	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17899364	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Down syndrome	20877625	CNVD
Acute myeloid leukemia	21251322	CNVD
Down syndrome	21154855	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:37852000-37871000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr21:37858600-37881600	Weak transcription	Right Atrium	heart
3	chr21:37860600-37882200	Weak transcription	HUVEC	blood vessel
4	chr21:37862000-37872000	Weak transcription	HSMMtube	muscle
5	chr21:37870000-37870200	Enhancers	Fetal Lung	lung
6	chr21:37870400-37871800	Weak transcription	Fetal Lung	lung
7	chr21:37870800-37872200	Bivalent Enhancer	HepG2	liver

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