Variant report

Variant	nsv979555
Chromosome Location	chr21:15290299-15296373
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 374 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:374 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3094809	chr21:15290302-15290303	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs570675041	chr21:15290368-15290369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs34902641	chr21:15290378-15290379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs8133047	chr21:15290397-15290398	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs112439718	chr21:15290400-15290401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572603643	chr21:15290407-15290408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs8126981	chr21:15290408-15290409	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs3094810	chr21:15290412-15290413	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs527525079	chr21:15290469-15290470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs35206133	chr21:15290470-15290471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547187885	chr21:15290473-15290474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs3094811	chr21:15290482-15290483	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs564767591	chr21:15290488-15290489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs142817405	chr21:15290496-15290497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540773740	chr21:15290501-15290502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs578093741	chr21:15290513-15290514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs36080036	chr21:15290514-15290515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560714976	chr21:15290526-15290527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs189873972	chr21:15290528-15290529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182455366	chr21:15290535-15290536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs34162775	chr21:15290538-15290539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs34702362	chr21:15290554-15290555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192218472	chr21:15290564-15290565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112832906	chr21:15290572-15290573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs199925092	chr21:15290598-15290599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372821544	chr21:15290622-15290623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs569181538	chr21:15290627-15290628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs139991560	chr21:15290655-15290656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs186498591	chr21:15290659-15290660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs143933878	chr21:15290673-15290674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539400571	chr21:15290681-15290682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs8133459	chr21:15290701-15290702	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs367952981	chr21:15290713-15290714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs55838845	chr21:15290717-15290718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs527406965	chr21:15290726-15290727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566367573	chr21:15290741-15290742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs116538250	chr21:15290754-15290755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs555017350	chr21:15290795-15290796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs3094812	chr21:15290796-15290797	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs544154874	chr21:15290800-15290801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371007247	chr21:15290801-15290802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557470213	chr21:15290815-15290816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145873667	chr21:15290859-15290860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540610281	chr21:15290865-15290866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560650432	chr21:15290873-15290874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs117797779	chr21:15290914-15290915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs543263486	chr21:15290915-15290916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562934678	chr21:15290930-15290931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531717774	chr21:15290940-15290941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs191488003	chr21:15290944-15290945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15277000-15292200	Weak transcription	Dnd41	blood
2	chr21:15292200-15296200	Enhancers	Dnd41	blood
3	chr21:15292800-15293200	Enhancers	K562	blood
4	chr21:15293200-15293600	Weak transcription	K562	blood
5	chr21:15293600-15296200	Enhancers	K562	blood
6	chr21:15295200-15295800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr21:15295200-15296200	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr21:15295200-15296200	Enhancers	HMEC	breast
9	chr21:15295400-15295800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr21:15296200-15298000	Weak transcription	K562	blood
11	chr21:15296200-15307200	Weak transcription	Dnd41	blood

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