Variant report

Variant	nsv964464
Chromosome Location	chr21:28981635-28983158
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576740881	chr21:28981750-28981751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs9979942	chr21:28981780-28981781	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs555752512	chr21:28981798-28981799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs543479603	chr21:28981862-28981863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575891493	chr21:28981876-28981877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs422279	chr21:28981920-28981921	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs555315703	chr21:28981978-28981979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534883803	chr21:28981992-28981993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561542229	chr21:28982011-28982012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183508599	chr21:28982023-28982024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572244653	chr21:28982046-28982047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs17642835	chr21:28982067-28982068	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs188453102	chr21:28982177-28982178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192265078	chr21:28982191-28982192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs143540606	chr21:28982217-28982218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184110477	chr21:28982287-28982288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs114140841	chr21:28982289-28982290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs146823814	chr21:28982297-28982298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568662733	chr21:28982303-28982304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368409627	chr21:28982327-28982328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547693024	chr21:28982333-28982334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570491084	chr21:28982340-28982341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528953148	chr21:28982363-28982364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs148946879	chr21:28982405-28982406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs1551588	chr21:28982407-28982408	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs143702515	chr21:28982427-28982428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376037216	chr21:28982433-28982434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538763936	chr21:28982455-28982456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572127714	chr21:28982480-28982481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541193019	chr21:28982500-28982501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs366156	chr21:28982504-28982505	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs577229294	chr21:28982507-28982508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs151097513	chr21:28982553-28982554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs575594470	chr21:28982575-28982576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562869894	chr21:28982581-28982582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs428680	chr21:28982595-28982596	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs376581111	chr21:28982600-28982601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2831030	chr21:28982616-28982617	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs386817606	chr21:28982618-28982619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs527989334	chr21:28982642-28982643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369725239	chr21:28982644-28982645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs9305321	chr21:28982645-28982646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374881158	chr21:28982646-28982647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs386394525	chr21:28982647-28982648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs386394526	chr21:28982661-28982662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs3085265	chr21:28982662-28982663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201549022	chr21:28982664-28982665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs540497246	chr21:28982668-28982669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565347540	chr21:28982676-28982677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs533043371	chr21:28982697-28982698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Gastric cancer	18160780	CNVD
Mental retardation	17621639	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28970400-29018000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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