Variant report

Variant	nsv962686
Chromosome Location	chr21:14382365-14393591
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr21:14392825-14393097	GM12878	blood:	n/a	n/a
2	CEBPB	chr21:14389110-14389307	K562	blood:	n/a	chr21:14389170-14389179 chr21:14389170-14389179 chr21:14389170-14389179 chr21:14389170-14389179
3	CEBPB	chr21:14389098-14389315	HepG2	liver:	n/a	chr21:14389170-14389179 chr21:14389170-14389179 chr21:14389170-14389179 chr21:14389170-14389179
4	CEBPB	chr21:14392873-14393073	IMR90	lung:	n/a	n/a
5	CEBPB	chr21:14389092-14389279	A549	lung:	n/a	chr21:14389170-14389179 chr21:14389170-14389179 chr21:14389170-14389179 chr21:14389170-14389179
6	CEBPB	chr21:14389097-14389318	IMR90	lung:	n/a	chr21:14389170-14389179 chr21:14389170-14389179 chr21:14389170-14389179 chr21:14389170-14389179
7	CTCF	chr21:14383700-14383850	GM12878	blood:	n/a	n/a
8	CTCF	chr21:14391586-14391682	GM13976	blood:	n/a	n/a
9	CTCF	chr21:14392055-14392098	Spleen_OC	spleen:	n/a	n/a
10	EP300	chr21:14382612-14382934	GM12878	blood:	n/a	chr21:14382797-14382811
11	EP300	chr21:14391095-14391349	GM12878	blood:	n/a	n/a
12	EP300	chr21:14391866-14392165	GM12878	blood:	n/a	n/a
13	GABPA	chr21:14391123-14391341	Hela-S3	cervix:	n/a	n/a
14	IRF4	chr21:14392834-14393209	GM12878	blood:	n/a	n/a
15	PAX5	chr21:14387715-14387923	GM12878	blood:	n/a	n/a
16	POU2F2	chr21:14391142-14391291	GM12878	blood:	n/a	n/a
17	POU2F2	chr21:14391900-14392235	GM12878	blood:	n/a	n/a
18	SP1	chr21:14392837-14393161	HepG2	liver:	n/a	n/a
19	ZBTB33	chr21:14391156-14391319	HepG2	liver:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BAGE4-1	chr21:14388942-14389013	XLOC_013999

Variant related genes	Relation type
ENSG00000229306	TF binding region

Extended variants
information (count: 71 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532791910	chr21:14388951-14388952	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs10432899	chr21:14388952-14388953	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs3875617	chr21:14388992-14388993	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs200655344	chr21:14388996-14388997	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs377094656	chr21:14388997-14388998	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs546657791	chr21:14389000-14389001	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs370183687	chr21:14389013-14389014	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs552132116	chr21:14389097-14389098	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs3875618	chr21:14389124-14389125	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs571655529	chr21:14389153-14389154	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs533904634	chr21:14389170-14389171	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs189412978	chr21:14389181-14389182	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs554157826	chr21:14389193-14389194	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs3875619	chr21:14389198-14389199	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs574000726	chr21:14389210-14389211	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs10432797	chr21:14389236-14389237	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs536757936	chr21:14389238-14389239	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs555132943	chr21:14389239-14389240	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs112379198	chr21:14389269-14389270	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs57130354	chr21:14389270-14389271	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs544100592	chr21:14389304-14389305	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs575143139	chr21:14389305-14389306	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs181051522	chr21:14389312-14389313	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs184201386	chr21:14389315-14389316	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs544078145	chr21:14389318-14389319	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs201876863	chr21:14391105-14391106	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs543753235	chr21:14391158-14391159	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs9305857	chr21:14391168-14391169	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs461839	chr21:14391199-14391200	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs563321787	chr21:14391216-14391217	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs532407259	chr21:14391243-14391244	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs200811264	chr21:14391253-14391254	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs552306164	chr21:14391265-14391266	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs559773291	chr21:14391302-14391303	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs528582917	chr21:14391307-14391308	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs4569552	chr21:14391328-14391329	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs3907848	chr21:14391599-14391600	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs62220280	chr21:14391605-14391606	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs111387509	chr21:14391608-14391609	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs3119433	chr21:14391631-14391632	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs538602266	chr21:14391633-14391634	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs62220281	chr21:14391671-14391672	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs28773023	chr21:14391874-14391875	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs367554776	chr21:14391903-14391904	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs572060186	chr21:14391945-14391946	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs200563253	chr21:14391976-14391977	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs58836479	chr21:14392006-14392007	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs201376990	chr21:14392007-14392008	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs199895195	chr21:14392009-14392010	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs4638880	chr21:14392037-14392038	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:50)

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	18458336	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
Breast cancer	21364760	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
Glioma	20126413	CNVD

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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