Variant report

Variant	nsv1051615
Chromosome Location	chr11:5956626-5980049
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:62)
CpG islands
(count:854)
Chromatin interactive
region (count:0)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:62 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr11:5959190-5959403	K562	blood:	n/a	n/a
2	BACH1	chr11:5959067-5959439	H1-hESC	embryonic stem cell:	n/a	n/a
3	BRCA1	chr11:5969009-5969020	HepG2	liver:	n/a	n/a
4	CEBPB	chr11:5977773-5978030	A549	lung:	n/a	chr11:5977915-5977926 chr11:5977913-5977924
5	CEBPB	chr11:5977780-5978051	HepG2	liver:	n/a	chr11:5977915-5977926 chr11:5977913-5977924
6	CTCF	chr11:5958281-5958366	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr11:5958432-5958492	GM13977	blood:	n/a	n/a
8	CTCF	chr11:5958260-5958410	HEK293	kidney:	n/a	n/a
9	CTCF	chr11:5969440-5969590	SK-N-SH_RA	brain:	n/a	n/a
10	CTCF	chr11:5958290-5958451	K562	blood:	n/a	n/a
11	CTCF	chr11:5958318-5958371	GM12878	blood:	n/a	n/a
12	CTCF	chr11:5976747-5976813	Fibrobl	skin:	n/a	n/a
13	CTCF	chr11:5958240-5958390	A549	lung:	n/a	n/a
14	CUX1	chr11:5964165-5964246	GM12878	blood:	n/a	n/a
15	E2F6	chr11:5959170-5959349	K562	blood:	n/a	n/a
16	FOXA1	chr11:5959729-5959964	T-47D	breast:	n/a	n/a
17	FOXA1	chr11:5959701-5960017	T-47D	breast:	n/a	n/a
18	HEY1	chr11:5957732-5958750	K562	blood:	n/a	n/a
19	HEY1	chr11:5956561-5957248	K562	blood:	n/a	n/a
20	HEY1	chr11:5958323-5958568	K562	blood:	n/a	n/a
21	HEY1	chr11:5959346-5959586	K562	blood:	n/a	n/a
22	JUN	chr11:5969039-5969309	HepG2	liver:	n/a	chr11:5969153-5969166
23	JUND	chr11:5969025-5969343	HepG2	liver:	n/a	n/a
24	MAFF	chr11:5959172-5959490	K562	blood:	n/a	chr11:5959331-5959349
25	MAFF	chr11:5959125-5959511	HepG2	liver:	n/a	chr11:5959331-5959349
26	MAFK	chr11:5959173-5959487	K562	blood:	n/a	chr11:5959332-5959347
27	MAFK	chr11:5959093-5959511	HepG2	liver:	n/a	chr11:5959332-5959347
28	MAFK	chr11:5959155-5959502	HepG2	liver:	n/a	chr11:5959332-5959347
29	MAFK	chr11:5959164-5959505	IMR90	lung:	n/a	chr11:5959332-5959347
30	MAFK	chr11:5959181-5959405	Hela-S3	cervix:	n/a	chr11:5959332-5959347
31	MAFK	chr11:5976356-5976421	HepG2	liver:	n/a	n/a
32	MAFK	chr11:5959079-5959433	H1-hESC	embryonic stem cell:	n/a	chr11:5959332-5959347
33	MYC	chr11:5959314-5959427	H1-hESC	embryonic stem cell:	n/a	n/a
34	MYC	chr11:5957243-5957300	K562	blood:	n/a	n/a
35	MYC	chr11:5958040-5958084	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr11:5972142-5972176	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr11:5958273-5958654	K562	blood:	n/a	n/a
38	POLR2A	chr11:5958433-5958457	MCF-7	breast:	n/a	n/a
39	POLR2A	chr11:5977660-5977691	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr11:5975304-5975463	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr11:5958281-5958481	K562	blood:	n/a	n/a
42	POLR2A	chr11:5958232-5958588	K562	blood:	n/a	n/a
43	POLR2A	chr11:5961993-5962012	MCF10A-Er-Src	breast:	n/a	n/a
44	POLR2A	chr11:5957581-5957750	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr11:5968681-5968768	MCF-7	breast:	n/a	n/a
46	POLR2A	chr11:5958326-5958467	K562	blood:	n/a	n/a
47	POLR2A	chr11:5957769-5957902	GM12878	blood:	n/a	n/a
48	POLR2A	chr11:5959462-5959480	MCF-7	breast:	n/a	n/a
49	POLR2A	chr11:5965575-5965675	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr11:5969150-5969317	MCF10A-Er-Src	breast:	n/a	n/a

(count:854 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:5956586-5956636	GM12892	blood:	n/a
2	chr11:5959945-5959995	HIPEpiC	eye:	n/a
3	chr11:5960015-5960065	HCF	heart:	n/a
4	chr11:5960015-5960065	K562	blood:	n/a
5	chr11:5959239-5959289	T-47D	breast:	n/a
6	chr11:5959945-5959995	HCPEpiC	choroid plexus:	n/a
7	chr11:5956586-5956636	PANC-1	pancreas:	n/a
8	chr11:5960213-5960263	SK-N-SH_RA	brain:	n/a
9	chr11:5967520-5967570	HCPEpiC	choroid plexus:	n/a
10	chr11:5967520-5967570	ProgFib	skin:	n/a
11	chr11:5960015-5960065	Jurkat	blood:	n/a
12	chr11:5957864-5957914	Jurkat	blood:	n/a
13	chr11:5957864-5957914	CMK	blood:	n/a
14	chr11:5960213-5960263	U87	brain:	n/a
15	chr11:5958221-5958271	HAEpiC	amniotic membrane:	n/a
16	chr11:5967520-5967570	SKMC	muscle:	n/a
17	chr11:5968801-5968851	GM06990	blood:	n/a
18	chr11:5958221-5958271	ProgFib	skin:	n/a
19	chr11:5960015-5960065	NT2-D1	testis:	n/a
20	chr11:5956586-5956636	NHDF-neo	bronchial:	n/a
21	chr11:5956787-5956837	AG09319	gingival:	n/a
22	chr11:5959239-5959289	SAEC	small airway:	n/a
23	chr11:5959239-5959289	AG09319	gingival:	n/a
24	chr11:5960081-5960131	CMK	blood:	n/a
25	chr11:5960213-5960263	HNPCEpiC	eye:	n/a
26	chr11:5959658-5959708	SK-N-MC	brain:	n/a
27	chr11:5959923-5959973	HepG2	liver:	n/a
28	chr11:5958221-5958271	IMR90	lung:	fetal
29	chr11:5956787-5956837	Hepatocyte	liver:	n/a
30	chr11:5960081-5960131	HUVEC	blood vessel:	n/a
31	chr11:5968801-5968851	HMEC	breast:	n/a
32	chr11:5956586-5956636	HL-60	blood:	n/a
33	chr11:5957864-5957914	AG10803	skin:	n/a
34	chr11:5959658-5959708	SK-N-SH	brain:	n/a
35	chr11:5956586-5956636	SAEC	small airway:	n/a
36	chr11:5960213-5960263	Caco-2	colon:	n/a
37	chr11:5958221-5958271	AG10803	skin:	n/a
38	chr11:5959945-5959995	HRPEpiC	eye:	n/a
39	chr11:5960213-5960263	GM06990	blood:	n/a
40	chr11:5968801-5968851	GM12892	blood:	n/a
41	chr11:5956586-5956636	ovcar-3	ovarian:	n/a
42	chr11:5958221-5958271	PrEC	prostate:	n/a
43	chr11:5957864-5957914	GM12892	blood:	n/a
44	chr11:5959658-5959708	HCPEpiC	choroid plexus:	n/a
45	chr11:5959658-5959708	AG09319	gingival:	n/a
46	chr11:5957864-5957914	SK-N-MC	brain:	n/a
47	chr11:5959239-5959289	HUVEC	blood vessel:	n/a
48	chr11:5968801-5968851	HAEpiC	amniotic membrane:	n/a
49	chr11:5968801-5968851	HIPEpiC	eye:	n/a
50	chr11:5956787-5956837	HNPCEpiC	eye:	n/a

No data

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR56A3-1	chr11:5966036-5966214	ENSG00000255257
2	lnc-OR56A3-1	chr11:5964560-5964716	ENSG00000255257
3	lnc-OR56A3-1	chr11:5959981-5960217	ENSG00000255257

No data

Variant related genes	Relation type
ENSG00000255257	TF binding region
OR56A3	TF binding region
TRIM5	TF binding region
ENSG00000255257	CpG island
OR56A3	CpG island
TRIM5	CpG island

Extended variants
information (count: 288 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:288 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4237762	chr11:5956626-5956627	Weak transcription	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs150629720	chr11:5956664-5956665	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs565983917	chr11:5956675-5956676	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs12575789	chr11:5956729-5956730	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs557372917	chr11:5956762-5956763	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs185218721	chr11:5956774-5956775	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs569755545	chr11:5956780-5956781	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs536776333	chr11:5956781-5956782	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs558643447	chr11:5956816-5956817	Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
10	rs576726906	chr11:5956818-5956819	Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
11	rs61876226	chr11:5956826-5956827	Weak transcription	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs553994149	chr11:5956828-5956829	Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
13	rs572450280	chr11:5956838-5956839	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs542803043	chr11:5956858-5956859	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs183642351	chr11:5956860-5956861	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs187425363	chr11:5956879-5956880	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs531809191	chr11:5956924-5956925	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs149341966	chr11:5956926-5956927	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs565389305	chr11:5956928-5956929	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs532358038	chr11:5956929-5956930	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs191437700	chr11:5956945-5956946	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs113347281	chr11:5956946-5956947	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs183758630	chr11:5956953-5956954	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs4758232	chr11:5956976-5956977	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs537263959	chr11:5956981-5956982	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs558326755	chr11:5956995-5956996	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs570527375	chr11:5956996-5956997	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs534317554	chr11:5956998-5956999	Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
29	rs114028382	chr11:5956999-5957000	Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
30	rs572388962	chr11:5957016-5957017	Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
31	rs542940185	chr11:5957032-5957033	Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
32	rs554864464	chr11:5957034-5957035	Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
33	rs12288704	chr11:5957042-5957043	Weak transcription	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs543999298	chr11:5957059-5957060	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs546835543	chr11:5957080-5957081	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs555432599	chr11:5957086-5957087	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs532680250	chr11:5957088-5957089	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs541424376	chr11:5957104-5957105	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs201645278	chr11:5957105-5957106	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs530140979	chr11:5957114-5957115	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs72886979	chr11:5957123-5957124	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs147229781	chr11:5957140-5957141	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs530571677	chr11:5957153-5957154	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs544349526	chr11:5957169-5957170	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs34277799	chr11:5957231-5957232	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs533024351	chr11:5957241-5957242	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs369477230	chr11:5957253-5957254	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs373926665	chr11:5957278-5957279	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs570442845	chr11:5957288-5957289	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs187082392	chr11:5957308-5957309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5952800-5959000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:5959000-5959400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:5959000-5960600	ZNF genes & repeats	Placenta	Placenta
4	chr11:5959400-5962000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:5960600-5961000	Enhancers	Placenta	Placenta
6	chr11:5974400-5974800	Enhancers	iPS-20b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links