Variant report

Variant	nsv587023
Chromosome Location	chr21:15240617-15266940
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-9	chr21:15240747-15241288	NONHSAT081122
2	lnc-POTED-11	chr21:15265662-15265761	NONHSAT081129

Extended variants
information (count: 2281 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:2281 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112059788	chr21:15240763-15240764	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs558364199	chr21:15240789-15240790	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs543311380	chr21:15240793-15240794	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs578237275	chr21:15240810-15240811	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs534281401	chr21:15240812-15240813	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs554318184	chr21:15240818-15240819	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs573906119	chr21:15240824-15240825	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs543030527	chr21:15240875-15240876	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs3119522	chr21:15240899-15240900	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs531585371	chr21:15240905-15240906	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs575479643	chr21:15240912-15240913	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs368891271	chr21:15240930-15240931	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs146402350	chr21:15240938-15240939	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs544127655	chr21:15240941-15240942	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs374203984	chr21:15240956-15240957	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs551723578	chr21:15240981-15240982	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs183558533	chr21:15241008-15241009	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs3965659	chr21:15241015-15241016	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs9982886	chr21:15241016-15241017	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs527741830	chr21:15241022-15241023	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs4046601	chr21:15241027-15241028	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs2334725	chr21:15241036-15241037	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs539898739	chr21:15241038-15241039	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs2878254	chr21:15241043-15241044	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs2334726	chr21:15241075-15241076	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs560194543	chr21:15241076-15241077	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs528851996	chr21:15241122-15241123	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs187296977	chr21:15241123-15241124	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs568791853	chr21:15241137-15241138	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs202094004	chr21:15241142-15241143	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs200331641	chr21:15241161-15241162	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs532043710	chr21:15241163-15241164	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs201610340	chr21:15241207-15241208	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs552146108	chr21:15241209-15241210	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs571831007	chr21:15241214-15241215	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs372226427	chr21:15241218-15241219	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs3965643	chr21:15241220-15241221	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs201380339	chr21:15241221-15241222	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs534396792	chr21:15241245-15241246	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs3965644	chr21:15241253-15241254	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs553948066	chr21:15241263-15241264	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs4818658	chr21:15244823-15244824	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs530014682	chr21:15244827-15244828	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs145349563	chr21:15244848-15244849	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs550138451	chr21:15244858-15244859	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs373649411	chr21:15244860-15244861	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs563297706	chr21:15244865-15244866	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs532337437	chr21:15244866-15244867	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs184905269	chr21:15244869-15244870	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs550997352	chr21:15244870-15244871	ZNF genes & repeats	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:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15244800-15245200	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
2	chr21:15245200-15246200	Weak transcription	Dnd41	blood
3	chr21:15246200-15247600	Enhancers	Dnd41	blood
4	chr21:15247600-15256200	Weak transcription	Dnd41	blood
5	chr21:15249400-15250200	Enhancers	K562	blood
6	chr21:15250200-15250600	Weak transcription	K562	blood
7	chr21:15250600-15250800	Enhancers	K562	blood
8	chr21:15250800-15252400	Weak transcription	K562	blood
9	chr21:15252400-15253000	Enhancers	K562	blood
10	chr21:15254400-15254800	Active TSS	Fetal Heart	heart
11	chr21:15254800-15258800	Weak transcription	Fetal Heart	heart
12	chr21:15256200-15256600	Enhancers	Dnd41	blood
13	chr21:15256600-15265600	Weak transcription	Dnd41	blood
14	chr21:15258800-15259200	ZNF genes & repeats	Fetal Heart	heart
15	chr21:15265600-15267000	Enhancers	Dnd41	blood

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