Variant report

Variant	nsv470879
Chromosome Location	chr21:15946828-15964278
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	ARID3A	chr21:15952116-15952196	K562	blood:	n/a	n/a
2	ARID3A	chr21:15964200-15964470	K562	blood:	n/a	n/a
3	ARID3A	chr21:15948341-15948537	K562	blood:	n/a	n/a
4	ARID3A	chr21:15962428-15962496	K562	blood:	n/a	n/a
5	ARID3A	chr21:15954023-15954811	K562	blood:	n/a	n/a
6	ARID3A	chr21:15955288-15957571	K562	blood:	n/a	n/a
7	ATF1	chr21:15957026-15957461	K562	blood:	n/a	n/a
8	ATF2	chr21:15962106-15962556	GM12878	blood:	n/a	n/a
9	ATF2	chr21:15962120-15962574	GM12878	blood:	n/a	n/a
10	BATF	chr21:15962199-15962469	GM12878	blood:	n/a	n/a
11	BCL11A	chr21:15962203-15962475	GM12878	blood:	n/a	n/a
12	BHLHE40	chr21:15962029-15962506	GM12878	blood:	n/a	n/a
13	BHLHE40	chr21:15963004-15963025	GM12878	blood:	n/a	n/a
14	BHLHE40	chr21:15963698-15963986	GM12878	blood:	n/a	n/a
15	BHLHE40	chr21:15964242-15964436	GM12878	blood:	n/a	n/a
16	CCNT2	chr21:15954161-15954740	K562	blood:	n/a	n/a
17	CCNT2	chr21:15956049-15956403	K562	blood:	n/a	n/a
18	CCNT2	chr21:15957137-15957477	K562	blood:	n/a	n/a
19	CEBPB	chr21:15957502-15957800	HepG2	liver:	n/a	chr21:15957622-15957633 chr21:15957624-15957633 chr21:15957622-15957635 chr21:15957624-15957635
20	CEBPB	chr21:15957511-15957789	H1-hESC	embryonic stem cell:	n/a	chr21:15957622-15957633 chr21:15957624-15957633 chr21:15957622-15957635 chr21:15957624-15957635
21	CEBPB	chr21:15956744-15957817	K562	blood:	n/a	chr21:15956898-15956910 chr21:15957267-15957278 chr21:15957622-15957633 chr21:15957012-15957025 chr21:15957624-15957633 chr21:15957622-15957635 chr21:15957624-15957635 chr21:15956955-15956972
22	CEBPB	chr21:15957499-15957789	IMR90	lung:	n/a	chr21:15957622-15957633 chr21:15957624-15957633 chr21:15957622-15957635 chr21:15957624-15957635
23	CEBPD	chr21:15954116-15954735	K562	blood:	n/a	n/a
24	CEBPD	chr21:15954148-15954694	K562	blood:	n/a	n/a
25	CHD1	chr21:15963729-15964068	GM12878	blood:	n/a	n/a
26	CHD1	chr21:15962679-15962684	GM12878	blood:	n/a	n/a
27	CHD2	chr21:15962257-15962500	GM12878	blood:	n/a	n/a
28	CHD2	chr21:15964258-15964541	GM12878	blood:	n/a	n/a
29	CREB1	chr21:15962069-15962610	GM12878	blood:	n/a	n/a
30	CTCF	chr21:15950476-15950535	K562	blood:	n/a	n/a
31	CUX1	chr21:15964150-15964661	GM12878	blood:	n/a	n/a
32	CUX1	chr21:15961918-15962462	GM12878	blood:	n/a	n/a
33	CUX1	chr21:15952340-15952936	K562	blood:	n/a	n/a
34	CUX1	chr21:15962322-15962397	K562	blood:	n/a	n/a
35	CUX1	chr21:15955332-15957848	K562	blood:	n/a	n/a
36	CUX1	chr21:15946842-15946843	K562	blood:	n/a	n/a
37	CUX1	chr21:15954096-15954815	K562	blood:	n/a	n/a
38	E2F4	chr21:15964271-15964707	MCF10A-Er-Src	breast:	n/a	n/a
39	E2F4	chr21:15955854-15956127	MCF10A-Er-Src	breast:	n/a	n/a
40	EBF1	chr21:15962203-15962527	GM12878	blood:	n/a	n/a
41	EGR1	chr21:15950468-15950714	K562	blood:	n/a	n/a
42	ELF1	chr21:15954362-15954609	K562	blood:	n/a	n/a
43	ELK1	chr21:15957663-15957751	GM12878	blood:	n/a	n/a
44	EP300	chr21:15955223-15956056	GM12878	blood:	n/a	n/a
45	EP300	chr21:15956456-15956960	GM12878	blood:	n/a	chr21:15956542-15956556 chr21:15956868-15956882
46	EP300	chr21:15954335-15954742	GM12878	blood:	n/a	chr21:15954427-15954434
47	EP300	chr21:15962082-15962645	GM12878	blood:	n/a	chr21:15962126-15962140
48	EP300	chr21:15950525-15950754	K562	blood:	n/a	n/a
49	EP300	chr21:15963734-15963986	GM12878	blood:	n/a	chr21:15963908-15963915
50	EP300	chr21:15955225-15956554	K562	blood:	n/a	chr21:15956378-15956387

No.	Distal block	Cell Line	Cell type
1	chr21:15944720..15947651-chr21:15950659..15952358,2	K562	blood:
2	chr17:57923233..57923880-chr21:15948142..15949029,2	MCF-7	breast:
3	chr21:15949855..15953983-chr21:15956777..15961120,5	K562	blood:
4	chr21:15949855..15953983-chr21:15956777..15961120,5	K562	blood:
5	chr21:15916155..15921451-chr21:15952417..15958327,11	K562	blood:
6	chr21:15942194..15946580-chr21:15946989..15950349,5	K562	blood:
7	chr21:15961455..15963973-chr21:15965969..15968617,3	K562	blood:
8	chr21:15962990..15965815-chr21:15973045..15978585,5	K562	blood:
9	chr21:15956962..15958891-chr21:15974300..15976169,2	K562	blood:
10	chr21:15944720..15947651-chr21:15950659..15952358,2	K562	blood:
11	chr21:15938738..15940240-chr21:15946079..15949018,2	K562	blood:
12	chr21:15955923..15958525-chr21:15986829..15988461,2	K562	blood:
13	chr21:15905941..15908063-chr21:15951429..15954293,3	K562	blood:
14	chr21:15954130..15955883-chr21:15957190..15959546,3	K562	blood:
15	chr21:15963141..15965075-chr21:15973045..15976364,4	K562	blood:
16	chr21:15913818..15915789-chr21:15955801..15958160,2	K562	blood:
17	chr21:15953103..15955709-chr21:15961850..15965268,4	K562	blood:
18	chr21:15940693..15943113-chr21:15945415..15947276,2	K562	blood:
19	chr21:15916155..15918687-chr21:15956794..15958327,2	K562	blood:
20	chr21:15963915..15966793-chr21:15970300..15972062,3	K562	blood:
21	chr21:15945593..15948533-chr21:15955041..15959412,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RBM11-3	chr21:15954523-15954612	ENSG00000223662.1
2	lnc-RBM11-3	chr21:15963643-15963789	ENSG00000223662.1
3	lnc-RBM11-3	chr21:15957683-15957859	ENSG00000223662.1

Variant related genes	Relation type
SAMSN1-AS1	TF binding region
SAMSN1	TF binding region
ENSG00000155307	chromatin interactions
ENSG00000223662	chromatin interactions
ENSG00000243440	chromatin interactions

Extended variants
information (count: 773 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:773 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs989938	chr21:15946828-15946829	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs143901756	chr21:15946837-15946838	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs576203233	chr21:15946858-15946859	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs545165575	chr21:15946893-15946894	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs527516733	chr21:15946960-15946961	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs539362509	chr21:15946962-15946963	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs370110554	chr21:15946985-15946986	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs558670222	chr21:15946990-15946991	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs556072537	chr21:15947027-15947028	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs117111488	chr21:15947058-15947059	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs190637508	chr21:15947076-15947077	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs529962314	chr21:15947077-15947078	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs7283445	chr21:15947081-15947082	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs182931501	chr21:15947137-15947138	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs531654734	chr21:15947158-15947159	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs187901323	chr21:15947173-15947174	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs535985728	chr21:15947199-15947200	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs147264525	chr21:15947223-15947224	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs527897418	chr21:15947235-15947236	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs548004880	chr21:15947241-15947242	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs575810862	chr21:15947244-15947245	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs567841295	chr21:15947318-15947319	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs536993490	chr21:15947332-15947333	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs556187981	chr21:15947333-15947334	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs116568410	chr21:15947341-15947342	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs538707580	chr21:15947342-15947343	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs555797711	chr21:15947354-15947355	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs9983058	chr21:15947361-15947362	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs192985326	chr21:15947375-15947376	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs540843856	chr21:15947401-15947402	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs367643836	chr21:15947416-15947417	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs554793549	chr21:15947434-15947435	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs538524952	chr21:15947463-15947464	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs57583639	chr21:15947499-15947500	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs35595810	chr21:15947521-15947522	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs142248384	chr21:15947525-15947526	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs183017751	chr21:15947535-15947536	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs562497151	chr21:15947566-15947567	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs576052656	chr21:15947572-15947573	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs561214139	chr21:15947574-15947575	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs9983327	chr21:15947634-15947635	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs150917378	chr21:15947641-15947642	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs187682644	chr21:15947707-15947708	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs547672192	chr21:15947710-15947711	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs192167916	chr21:15947732-15947733	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs184756985	chr21:15947753-15947754	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs534136894	chr21:15947760-15947761	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs139406141	chr21:15947778-15947779	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs569634849	chr21:15947838-15947839	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs538622642	chr21:15947865-15947866	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
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
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
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
XY gonadal dysgenesis	20685758	CNVD

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15946200-15948600	Weak transcription	K562	blood
2	chr21:15948600-15949000	Enhancers	K562	blood
3	chr21:15949000-15952000	Weak transcription	K562	blood
4	chr21:15952000-15953400	Enhancers	K562	blood
5	chr21:15952800-15953000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr21:15952800-15954200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr21:15953000-15953600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr21:15953400-15953600	Flanking Active TSS	K562	blood
9	chr21:15953400-15954400	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr21:15953400-15954800	Enhancers	Dnd41	blood
11	chr21:15953600-15953800	Enhancers	K562	blood
12	chr21:15953600-15954400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr21:15953800-15954200	Active TSS	K562	blood
14	chr21:15954000-15954600	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr21:15954000-15954800	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr21:15954000-15955000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr21:15954200-15954600	Active TSS	Primary T cells fromperipheralblood	blood
18	chr21:15954200-15954600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
19	chr21:15954200-15954800	Enhancers	Primary T cells from cord blood	blood
20	chr21:15954200-15954800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr21:15954200-15954800	Flanking Active TSS	K562	blood
22	chr21:15954400-15954800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
23	chr21:15954400-15954800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
24	chr21:15954400-15954800	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr21:15954600-15954800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
26	chr21:15954800-15956400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr21:15954800-15957200	Active TSS	K562	blood
28	chr21:15954800-15961400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr21:15954800-15961800	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr21:15954800-15962000	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr21:15955000-15957400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr21:15956200-15957400	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr21:15956200-15957800	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr21:15956400-15956600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
35	chr21:15956400-15957800	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr21:15956600-15957000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr21:15956800-15957800	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr21:15957000-15957200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
39	chr21:15957000-15957400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr21:15957200-15957800	Flanking Active TSS	K562	blood
41	chr21:15957200-15961600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr21:15957400-15957800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr21:15957400-15957800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr21:15957800-15958000	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr21:15957800-15958800	Weak transcription	K562	blood
46	chr21:15957800-15962000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr21:15957800-15962400	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr21:15957800-15962600	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr21:15958000-15962000	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr21:15958800-15959400	Enhancers	K562	blood

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