Variant report

Variant	nsv587029
Chromosome Location	chr21:15245438-15266940
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-POTED-11	chr21:15265662-15265761	NONHSAT081129

Extended variants
information (count: 2161 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:2161 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7281634	chr21:15245438-15245439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs577988630	chr21:15245439-15245440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs34799556	chr21:15245448-15245449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34287573	chr21:15245492-15245493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs9978100	chr21:15245497-15245498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572669208	chr21:15245498-15245499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs35933098	chr21:15245530-15245531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs34866987	chr21:15245557-15245558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184245840	chr21:15245576-15245577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs113417369	chr21:15245582-15245583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375003101	chr21:15245606-15245607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561578553	chr21:15245645-15245646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369790627	chr21:15245654-15245655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544019020	chr21:15245667-15245668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564071300	chr21:15245672-15245673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188958177	chr21:15245678-15245679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372769094	chr21:15245713-15245714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs377079993	chr21:15245719-15245720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547241657	chr21:15245720-15245721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560780489	chr21:15245736-15245737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181763294	chr21:15245755-15245756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549576447	chr21:15245757-15245758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7280929	chr21:15245765-15245766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569518128	chr21:15245768-15245769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372827412	chr21:15245785-15245786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538325918	chr21:15245789-15245790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551591856	chr21:15245795-15245796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs147418890	chr21:15245803-15245804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533192617	chr21:15245816-15245817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs139199655	chr21:15245851-15245852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546553929	chr21:15245854-15245855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs149521593	chr21:15245856-15245857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187654102	chr21:15245877-15245878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs56101129	chr21:15245882-15245883	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs115254937	chr21:15245888-15245889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535408866	chr21:15245911-15245912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555135229	chr21:15245917-15245918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs144024115	chr21:15245927-15245928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs148751809	chr21:15245936-15245937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564046268	chr21:15245946-15245947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs143657126	chr21:15245953-15245954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539828239	chr21:15245972-15245973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs560218178	chr21:15245989-15245990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs146789408	chr21:15245994-15245995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs62209117	chr21:15246001-15246002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs563029488	chr21:15246002-15246003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs115362467	chr21:15246003-15246004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs116840071	chr21:15246007-15246008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571635586	chr21:15246008-15246009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534329701	chr21:15246014-15246015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15245200-15246200	Weak transcription	Dnd41	blood
2	chr21:15246200-15247600	Enhancers	Dnd41	blood
3	chr21:15247600-15256200	Weak transcription	Dnd41	blood
4	chr21:15249400-15250200	Enhancers	K562	blood
5	chr21:15250200-15250600	Weak transcription	K562	blood
6	chr21:15250600-15250800	Enhancers	K562	blood
7	chr21:15250800-15252400	Weak transcription	K562	blood
8	chr21:15252400-15253000	Enhancers	K562	blood
9	chr21:15254400-15254800	Active TSS	Fetal Heart	heart
10	chr21:15254800-15258800	Weak transcription	Fetal Heart	heart
11	chr21:15256200-15256600	Enhancers	Dnd41	blood
12	chr21:15256600-15265600	Weak transcription	Dnd41	blood
13	chr21:15258800-15259200	ZNF genes & repeats	Fetal Heart	heart
14	chr21:15265600-15267000	Enhancers	Dnd41	blood

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