Variant report

Variant	nsv964514
Chromosome Location	chr21:15296373-15301872
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 343 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:343 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139457767	chr21:15296375-15296376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs191776171	chr21:15296404-15296405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556465680	chr21:15296428-15296429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs372020010	chr21:15296497-15296498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184182862	chr21:15296519-15296520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs428540	chr21:15296616-15296617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558594008	chr21:15296628-15296629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187417863	chr21:15296663-15296664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534651111	chr21:15296714-15296715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554993112	chr21:15296823-15296824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570014011	chr21:15296829-15296830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192463617	chr21:15296848-15296849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs145610406	chr21:15296892-15296893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs146859913	chr21:15296900-15296901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189096628	chr21:15296911-15296912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545238824	chr21:15296927-15296928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs116446545	chr21:15296938-15296939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2822259	chr21:15296955-15296956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs527430388	chr21:15296965-15296966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs148880989	chr21:15296979-15296980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs433895	chr21:15297016-15297017	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs200572355	chr21:15297025-15297026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs28377886	chr21:15297039-15297040	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs369043	chr21:15297040-15297041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113330672	chr21:15297054-15297055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201630771	chr21:15297056-15297057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs199939026	chr21:15297061-15297062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs145050653	chr21:15297076-15297077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs141404312	chr21:15297103-15297104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181038930	chr21:15297109-15297110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568067836	chr21:15297157-15297158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373189	chr21:15297207-15297208	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs534828773	chr21:15297227-15297228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184399155	chr21:15297247-15297248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574804407	chr21:15297259-15297260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537072649	chr21:15297262-15297263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369688489	chr21:15297263-15297264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556388306	chr21:15297279-15297280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs2525647	chr21:15297280-15297281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188558022	chr21:15297281-15297282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370101	chr21:15297310-15297311	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs370313994	chr21:15297318-15297319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs9941780	chr21:15297323-15297324	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs370137	chr21:15297339-15297340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542168759	chr21:15297367-15297368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371012761	chr21:15297382-15297383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560843942	chr21:15297406-15297407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112628170	chr21:15297430-15297431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs368377851	chr21:15297444-15297445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549522762	chr21:15297457-15297458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Multiple myeloma	17550852	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

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15296200-15298000	Weak transcription	K562	blood
2	chr21:15296200-15307200	Weak transcription	Dnd41	blood
3	chr21:15298000-15298200	Enhancers	K562	blood
4	chr21:15301600-15308400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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