Variant report

Variant	nsv587478
Chromosome Location	chr21:40243459-40275033
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:160)
CpG islands
(count:0)
Chromatin interactive
region (count:28)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:160 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr21:40244867-40244988	K562	blood:	n/a	chr21:40244940-40244949 chr21:40244940-40244949 chr21:40244939-40244948 chr21:40244934-40244955 chr21:40244938-40244951 chr21:40244941-40244950
2	CBX3	chr21:40255144-40255385	K562	blood:	n/a	n/a
3	CBX3	chr21:40258952-40259441	HCT-116	colon:	n/a	n/a
4	CBX3	chr21:40258911-40259498	HCT-116	colon:	n/a	n/a
5	CBX3	chr21:40255073-40255352	K562	blood:	n/a	n/a
6	CBX3	chr21:40259015-40259237	K562	blood:	n/a	n/a
7	CEBPB	chr21:40252195-40252383	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr21:40247593-40248083	MCF-7	breast:	n/a	n/a
9	CEBPB	chr21:40272459-40272759	Hela-S3	cervix:	n/a	chr21:40272621-40272632 chr21:40272620-40272631
10	CEBPB	chr21:40247620-40248050	MCF-7	breast:	n/a	n/a
11	CEBPB	chr21:40250682-40250910	A549	lung:	n/a	chr21:40250768-40250779 chr21:40250750-40250761
12	CEBPB	chr21:40247690-40248061	IMR90	lung:	n/a	n/a
13	CEBPB	chr21:40262270-40262400	K562	blood:	n/a	chr21:40262327-40262338
14	CEBPB	chr21:40272476-40272798	HepG2	liver:	n/a	chr21:40272621-40272632 chr21:40272620-40272631
15	CEBPB	chr21:40270741-40270930	HepG2	liver:	n/a	chr21:40270820-40270831
16	CEBPB	chr21:40270810-40270856	A549	lung:	n/a	chr21:40270820-40270831
17	CEBPB	chr21:40270341-40270963	Hela-S3	cervix:	n/a	chr21:40270820-40270831
18	CEBPB	chr21:40272531-40272782	A549	lung:	n/a	chr21:40272621-40272632 chr21:40272620-40272631
19	CEBPB	chr21:40262224-40262454	HepG2	liver:	n/a	chr21:40262327-40262338
20	CEBPB	chr21:40247687-40248042	K562	blood:	n/a	n/a
21	CEBPB	chr21:40250442-40250915	Hela-S3	cervix:	n/a	chr21:40250768-40250779 chr21:40250750-40250761
22	CEBPB	chr21:40250689-40250868	HepG2	liver:	n/a	chr21:40250768-40250779 chr21:40250750-40250761
23	CEBPB	chr21:40262168-40262463	IMR90	lung:	n/a	chr21:40262327-40262338
24	CEBPB	chr21:40247697-40248045	HepG2	liver:	n/a	n/a
25	CEBPB	chr21:40262223-40262444	A549	lung:	n/a	chr21:40262327-40262338
26	CTCF	chr21:40252420-40252570	HCPEpiC	choroid plexus:	n/a	n/a
27	CTCF	chr21:40245400-40245550	HMF	breast:	n/a	n/a
28	CTCF	chr21:40247620-40247770	BJ	skin:	n/a	n/a
29	CTCF	chr21:40247580-40247730	HCFaa	heart:	n/a	n/a
30	CTCF	chr21:40249372-40249442	Lung_OC	lung:	n/a	n/a
31	CTCF	chr21:40247660-40247810	HCM	heart:	n/a	n/a
32	CTCF	chr21:40247620-40247770	HPAF	blood vessel:	n/a	n/a
33	CTCF	chr21:40245380-40245530	HMF	breast:	n/a	n/a
34	CTCF	chr21:40247460-40247610	AoAF	blood vessel:	n/a	n/a
35	CTCF	chr21:40247730-40247808	Pancreas_OC	pancreas:	n/a	n/a
36	CTCF	chr21:40245400-40245527	Fibrobl	skin:	n/a	n/a
37	CTCF	chr21:40247560-40247710	HPAF	blood vessel:	n/a	n/a
38	CTCF	chr21:40245340-40245490	HCFaa	heart:	n/a	n/a
39	CTCF	chr21:40247240-40247390	WERI-Rb-1	eye:	n/a	n/a
40	E2F4	chr21:40257221-40257366	MCF10A-Er-Src	breast:	n/a	n/a
41	E2F4	chr21:40250699-40250912	MCF10A-Er-Src	breast:	n/a	n/a
42	E2F4	chr21:40270762-40270970	MCF10A-Er-Src	breast:	n/a	n/a
43	EBF1	chr21:40265118-40265204	GM12878	blood:	n/a	n/a
44	ELK4	chr21:40270264-40270618	Hela-S3	cervix:	n/a	n/a
45	EP300	chr21:40252060-40252449	HepG2	liver:	n/a	n/a
46	EP300	chr21:40270209-40270876	Hela-S3	cervix:	n/a	n/a
47	FOS	chr21:40270191-40270609	HUVEC	blood vessel:	n/a	chr21:40270257-40270266
48	FOS	chr21:40272427-40272746	MCF10A-Er-Src	breast:	n/a	n/a
49	FOS	chr21:40272420-40272710	MCF10A-Er-Src	breast:	n/a	n/a
50	FOS	chr21:40250688-40250891	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:40260407..40261983-chr21:40262298..40264530,2	MCF-7	breast:
2	chr21:40253690..40256394-chr21:40265438..40267658,2	MCF-7	breast:
3	chr21:40177965..40179709-chr21:40267730..40269357,2	K562	blood:
4	chr21:40176606..40179033-chr21:40274640..40277312,2	K562	blood:
5	chr21:40031187..40034113-chr21:40248708..40250685,2	MCF-7	breast:
6	chr21:40274625..40276194-chr21:40279774..40282336,2	K562	blood:
7	chr21:40254991..40257850-chr21:40263052..40264754,2	MCF-7	breast:
8	chr21:40257921..40259481-chr21:40286855..40288492,2	MCF-7	breast:
9	chr21:40176416..40179104-chr21:40257484..40260730,3	MCF-7	breast:
10	chr21:40241705..40244760-chr21:40247140..40250390,3	K562	blood:
11	chr21:40268536..40271467-chr21:40282576..40285415,2	K562	blood:
12	chr21:40271835..40274806-chr21:40278210..40280286,3	K562	blood:
13	chr21:40273169..40275089-chr21:40277742..40279439,2	MCF-7	breast:
14	chr21:40249695..40251882-chr21:40278200..40280440,2	MCF-7	breast:
15	chr21:40241705..40244760-chr21:40247140..40250390,3	K562	blood:
16	chr21:40268911..40271660-chr21:40277159..40278899,2	MCF-7	breast:
17	chr21:40268571..40270623-chr21:40281221..40283550,2	MCF-7	breast:
18	chr21:40265993..40268678-chr21:40271518..40274159,2	MCF-7	breast:
19	chr21:40274512..40276414-chr21:40289458..40290998,2	MCF-7	breast:
20	chr21:40184185..40186181-chr21:40274030..40276834,2	MCF-7	breast:
21	chr21:40267221..40269105-chr21:40280322..40281835,2	MCF-7	breast:
22	chr21:40229025..40231300-chr21:40255922..40258531,2	K562	blood:
23	chr21:40251284..40253105-chr21:40275705..40277634,2	MCF-7	breast:
24	chr21:40270467..40272211-chr21:40279287..40280872,2	MCF-7	breast:
25	chr21:40233699..40235250-chr21:40241949..40243850,2	K562	blood:
26	chr21:40240674..40242419-chr21:40245224..40247812,2	MCF-7	breast:
27	chr21:40254991..40257850-chr21:40263052..40264754,2	MCF-7	breast:
28	chr21:40262001..40266024-chr21:40277742..40279411,3	K562	blood:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PSMG1-9	chr21:40249215-40252296	ENSG00000205622
2	lnc-ETS2-5	chr21:40266841-40267176	NONHSAT082132
3	lnc-PSMG1-9	chr21:40249215-40252276	ENSG00000205622
4	lnc-PSMG1-9	chr21:40273825-40273889	ENSG00000205622
5	lnc-PSMG1-9	chr21:40273825-40273889	ENSG00000205622
6	lnc-PSMG1-9	chr21:40252231-40252296	ENSG00000205622
7	lnc-ETS2-3	chr21:40260696-40260817	ENSG00000229925.1

No data

Variant related genes	Relation type
ENSG00000272015	TF binding region
ENSG00000229925	TF binding region
RPSAP64	TF binding region
ENSG00000234035	chromatin interactions
ENSG00000229925	chromatin interactions
ENSG00000157554	chromatin interactions
ENSG00000157557	chromatin interactions
ENSG00000227721	chromatin interactions
ENSG00000272015	chromatin interactions

Extended variants
information (count: 1193 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:1193 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs468708	chr21:40243459-40243460	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs144156210	chr21:40243478-40243479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs373610725	chr21:40243510-40243511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs542961177	chr21:40243548-40243549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs148652502	chr21:40243578-40243579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs142165612	chr21:40243659-40243660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575464984	chr21:40243680-40243681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs468959	chr21:40243834-40243835	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs139542925	chr21:40243864-40243865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574654345	chr21:40243895-40243896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs467571	chr21:40243924-40243925	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs145162470	chr21:40244001-40244002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs560240139	chr21:40244032-40244033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs62217831	chr21:40244045-40244046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs556507028	chr21:40244048-40244049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs191191191	chr21:40244077-40244078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs548928570	chr21:40244096-40244097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs529078800	chr21:40244104-40244105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs147555225	chr21:40244123-40244124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs551641285	chr21:40244125-40244126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs183775910	chr21:40244133-40244134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs468981	chr21:40244172-40244173	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs189011200	chr21:40244174-40244175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs553949405	chr21:40244181-40244182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs574038113	chr21:40244227-40244228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs536365574	chr21:40244246-40244247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs556494972	chr21:40244278-40244279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs546420816	chr21:40244308-40244309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs13048952	chr21:40244322-40244323	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs564367770	chr21:40244365-40244366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs464093	chr21:40244368-40244369	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs552465227	chr21:40244393-40244394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs193014746	chr21:40244440-40244441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs528954861	chr21:40244456-40244457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs57716877	chr21:40244483-40244484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs397976471	chr21:40244484-40244485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs468004	chr21:40244509-40244510	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs185689758	chr21:40244532-40244533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs531196963	chr21:40244552-40244553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs469564	chr21:40244556-40244557	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs571562339	chr21:40244639-40244640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs534231248	chr21:40244665-40244666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs469031	chr21:40244667-40244668	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs368671020	chr21:40244691-40244692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs567787949	chr21:40244696-40244697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs372600855	chr21:40244720-40244721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs2032171	chr21:40244730-40244731	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs73903642	chr21:40244768-40244769	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs538986149	chr21:40244774-40244775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs558998779	chr21:40244784-40244785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
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
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
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
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
Wilms tumour	21544195	CNVD
Ewing''s sarcoma	17952124	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	16864856	CNVD
Mental retardation	21031080	CNVD
Polymicrogyria	21031080	CNVD
periventricular nodular heterotopia	21031080	CNVD
Myelodysplastic syndrome	21606161	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21858162	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17899364	CNVD
Down syndrome	20877625	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Prostate cancer	21147910	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Prostate cancer	18632612	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:132 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40229600-40245400	Weak transcription	Left Ventricle	heart
2	chr21:40233600-40245400	Weak transcription	Right Atrium	heart
3	chr21:40235600-40247600	Weak transcription	Spleen	Spleen
4	chr21:40241600-40246600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr21:40242200-40244000	Weak transcription	Thymus	Thymus
6	chr21:40242200-40246600	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr21:40242200-40246600	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr21:40242200-40247600	Weak transcription	Primary hematopoietic stem cells	blood
9	chr21:40243000-40246600	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr21:40244000-40244800	Enhancers	Thymus	Thymus
11	chr21:40244800-40247200	Weak transcription	Thymus	Thymus
12	chr21:40245400-40245800	Enhancers	Left Ventricle	heart
13	chr21:40245400-40246000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr21:40245400-40246000	Enhancers	Right Atrium	heart
15	chr21:40246000-40250000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr21:40246600-40247800	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr21:40246600-40248600	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr21:40246600-40248800	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr21:40246600-40248800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr21:40246800-40249000	Enhancers	Dnd41	blood
21	chr21:40247000-40248400	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr21:40247000-40248600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr21:40247000-40249000	Enhancers	Fetal Thymus	thymus
24	chr21:40247200-40247400	Enhancers	Lung	lung
25	chr21:40247200-40248800	Enhancers	Thymus	Thymus
26	chr21:40247400-40247800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr21:40247400-40247800	Enhancers	HMEC	breast
28	chr21:40247600-40247800	Enhancers	Spleen	Spleen
29	chr21:40247600-40248400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr21:40247600-40248600	Enhancers	Primary hematopoietic stem cells	blood
31	chr21:40247800-40248600	Weak transcription	Spleen	Spleen
32	chr21:40247800-40250200	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr21:40247800-40250400	Weak transcription	HMEC	breast
34	chr21:40247800-40259400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr21:40248600-40248800	Enhancers	Spleen	Spleen
36	chr21:40248600-40250000	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr21:40248600-40250600	Weak transcription	Primary hematopoietic stem cells	blood
38	chr21:40248800-40249800	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr21:40249800-40251600	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr21:40250000-40250600	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr21:40250000-40251200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr21:40250200-40250800	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr21:40250400-40250800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr21:40250400-40250800	Enhancers	Adipose Nuclei	Adipose
45	chr21:40250400-40250800	Enhancers	HMEC	breast
46	chr21:40250400-40252400	Enhancers	Liver	Liver
47	chr21:40250600-40250800	Enhancers	Primary hematopoietic stem cells	blood
48	chr21:40250600-40251000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
49	chr21:40251000-40251600	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr21:40257800-40258400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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