Variant report

Variant	nsv964513
Chromosome Location	chr21:15287797-15289207
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2775984	chr21:15287884-15287885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs572585332	chr21:15287943-15287944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200506354	chr21:15287959-15287960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs541492936	chr21:15287968-15287969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561017630	chr21:15287981-15287982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574607239	chr21:15287991-15287992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141582610	chr21:15287997-15287998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs563344062	chr21:15288013-15288014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs4426606	chr21:15288045-15288046	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs2775985	chr21:15288048-15288049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551425003	chr21:15288089-15288090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs371063334	chr21:15288131-15288132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565071061	chr21:15288148-15288149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs2525607	chr21:15288177-15288178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs146962939	chr21:15288193-15288194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs150443207	chr21:15288208-15288209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs527469560	chr21:15288234-15288235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2822252	chr21:15288262-15288263	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs373714015	chr21:15288278-15288279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567330726	chr21:15288287-15288288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536356466	chr21:15288325-15288326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112183522	chr21:15288373-15288374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549800416	chr21:15288388-15288389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs57135929	chr21:15288393-15288394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539304318	chr21:15288407-15288408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs367823451	chr21:15288423-15288424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559015869	chr21:15288439-15288440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192959254	chr21:15288448-15288449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546654708	chr21:15288480-15288481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534870684	chr21:15288493-15288494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2525621	chr21:15288495-15288496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554752046	chr21:15288514-15288515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574543811	chr21:15288569-15288570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs185627199	chr21:15288578-15288579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563330036	chr21:15288606-15288607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs3094799	chr21:15288635-15288636	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs546204123	chr21:15288636-15288637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs414958	chr21:15288639-15288640	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs3115459	chr21:15288641-15288642	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs541182335	chr21:15288644-15288645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs148979510	chr21:15288667-15288668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs3094800	chr21:15288668-15288669	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs538081516	chr21:15288674-15288675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs434155	chr21:15288710-15288711	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs569610741	chr21:15288735-15288736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs28527447	chr21:15288737-15288738	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs552164211	chr21:15288740-15288741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566200750	chr21:15288761-15288762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs535327254	chr21:15288768-15288769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs533821050	chr21:15288769-15288770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
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
Sudden cardiac death	19188705	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21509527	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
Myelofibrosis	22110671	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	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
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	20409316	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute myeloid leukemia	21251322	CNVD
abnormal development	18461090	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Melanoma	17363583	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15277000-15292200	Weak transcription	Dnd41	blood

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