Variant report

Variant	nsv541052
Chromosome Location	chr11:59119390-59185103
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:185)
CpG islands
(count:123)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:185 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr11:59147656-59148686	GM12878	blood:	n/a	n/a
2	ATF2	chr11:59147689-59148680	GM12878	blood:	n/a	n/a
3	BACH1	chr11:59125808-59125885	H1-hESC	embryonic stem cell:	n/a	n/a
4	BATF	chr11:59147987-59148480	GM12878	blood:	n/a	n/a
5	BATF	chr11:59148012-59148596	GM12878	blood:	n/a	n/a
6	BCL11A	chr11:59147923-59148577	GM12878	blood:	n/a	n/a
7	BCL11A	chr11:59148034-59148305	GM12878	blood:	n/a	n/a
8	BCL3	chr11:59148052-59148518	GM12878	blood:	n/a	n/a
9	BCLAF1	chr11:59147928-59148414	GM12878	blood:	n/a	n/a
10	BHLHE40	chr11:59147866-59148621	GM12878	blood:	n/a	n/a
11	CBX3	chr11:59171004-59171456	HCT-116	colon:	n/a	n/a
12	CEBPB	chr11:59181089-59181461	HepG2	liver:	n/a	chr11:59181274-59181285
13	CEBPB	chr11:59181121-59181486	A549	lung:	n/a	chr11:59181274-59181285
14	CEBPB	chr11:59181194-59181442	H1-hESC	embryonic stem cell:	n/a	chr11:59181274-59181285
15	CEBPB	chr11:59122252-59122448	HepG2	liver:	n/a	chr11:59122374-59122385
16	CEBPB	chr11:59181112-59181454	A549	lung:	n/a	chr11:59181274-59181285
17	CEBPB	chr11:59181125-59181398	Hela-S3	cervix:	n/a	chr11:59181274-59181285
18	CEBPB	chr11:59181102-59181458	K562	blood:	n/a	chr11:59181274-59181285
19	CEBPB	chr11:59181180-59181406	K562	blood:	n/a	chr11:59181274-59181285
20	CEBPB	chr11:59181114-59181449	A549	lung:	n/a	chr11:59181274-59181285
21	CEBPB	chr11:59181100-59181460	IMR90	lung:	n/a	chr11:59181274-59181285
22	CEBPB	chr11:59124630-59124719	A549	lung:	n/a	n/a
23	CEBPB	chr11:59137945-59138122	A549	lung:	n/a	n/a
24	CEBPB	chr11:59181209-59181366	K562	blood:	n/a	chr11:59181274-59181285
25	CREB1	chr11:59147885-59148671	GM12878	blood:	n/a	n/a
26	CTCF	chr11:59140200-59140350	GM12866	blood:	n/a	n/a
27	CTCF	chr11:59168740-59168890	MCF-7	breast:	n/a	n/a
28	CTCF	chr11:59168815-59168845	ProgFib	skin:	n/a	n/a
29	CTCF	chr11:59168880-59169030	GM12866	blood:	n/a	n/a
30	CTCF	chr11:59168720-59168870	HCPEpiC	choroid plexus:	n/a	n/a
31	CTCF	chr11:59168680-59168830	Hela-S3	cervix:	n/a	n/a
32	CTCF	chr11:59139900-59140050	GM12865	blood:	n/a	n/a
33	CTCF	chr11:59168760-59168910	HepG2	liver:	n/a	n/a
34	CTCF	chr11:59168769-59168886	LNCaP	prostate:	n/a	n/a
35	CTCF	chr11:59168780-59168930	HCT-116	colon:	n/a	n/a
36	CTCF	chr11:59168765-59168861	Hela-S3	cervix:	n/a	n/a
37	CTCF	chr11:59168660-59168810	GM12872	blood:	n/a	n/a
38	CTCF	chr11:59168680-59168830	GM06990	blood:	n/a	n/a
39	CTCF	chr11:59139980-59140130	GM12868	blood:	n/a	n/a
40	CTCF	chr11:59168720-59168870	K562	blood:	n/a	n/a
41	CTCF	chr11:59168740-59168890	HCFaa	heart:	n/a	n/a
42	CTCF	chr11:59168880-59169030	GM12878	blood:	n/a	n/a
43	CTCF	chr11:59134701-59134760	GM20000	blood:	n/a	n/a
44	CTCF	chr11:59139960-59140110	GM12873	blood:	n/a	n/a
45	CTCF	chr11:59139880-59140030	GM06990	blood:	n/a	n/a
46	CTCF	chr11:59168700-59168850	HMF	breast:	n/a	n/a
47	CTCF	chr11:59168720-59168870	MCF-7	breast:	n/a	n/a
48	CTCF	chr11:59168780-59168930	NHEK	skin:	n/a	n/a
49	CTCF	chr11:59168740-59168890	Hela-S3	cervix:	n/a	n/a
50	CTCF	chr11:59168740-59168890	GM12872	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:59132298-59132348	NB4	blood:	n/a
2	chr11:59132298-59132348	NB4	blood:	n/a
3	chr11:59132298-59132348	GM06990	blood:	n/a
4	chr11:59131003-59131053	HRE	kidney:	n/a
5	chr11:59131003-59131053	U87	brain:	n/a
6	chr11:59132298-59132348	AoSMC	blood vessel:	n/a
7	chr11:59132298-59132348	HepG2	liver:	n/a
8	chr11:59131003-59131053	LNCaP	prostate:	n/a
9	chr11:59131003-59131053	BJ	skin:	n/a
10	chr11:59132298-59132348	ECC-1	luminal epithelium:	n/a
11	chr11:59132298-59132348	GM12878	blood:	n/a
12	chr11:59132298-59132348	HIPEpiC	eye:	n/a
13	chr11:59132298-59132348	RPTEC	kidney:	n/a
14	chr11:59132298-59132348	HUVEC	blood vessel:	n/a
15	chr11:59131003-59131053	AoSMC	blood vessel:	n/a
16	chr11:59132298-59132348	LNCaP	prostate:	n/a
17	chr11:59132298-59132348	Caco-2	colon:	n/a
18	chr11:59131003-59131053	NT2-D1	testis:	n/a
19	chr11:59131003-59131053	RPTEC	kidney:	n/a
20	chr11:59132298-59132348	AG04450	lung:	fetal
21	chr11:59132298-59132348	A549	lung:	n/a
22	chr11:59131003-59131053	HIPEpiC	eye:	n/a
23	chr11:59132298-59132348	HPAEpiC	pulmonary alveolar:	n/a
24	chr11:59131003-59131053	HL-60	blood:	n/a
25	chr11:59131003-59131053	GM19239	blood:	n/a
26	chr11:59132298-59132348	PrEC	prostate:	n/a
27	chr11:59132298-59132348	AG10803	skin:	n/a
28	chr11:59132298-59132348	NH-A	brain:	n/a
29	chr11:59131003-59131053	SKMC	muscle:	n/a
30	chr11:59131003-59131053	GM12878	blood:	n/a
31	chr11:59132298-59132348	AG04449	skin:	fetal
32	chr11:59131003-59131053	MCF10A-Er-Src	breast:	n/a
33	chr11:59131003-59131053	NHBE	bronchial:	n/a
34	chr11:59131003-59131053	Jurkat	blood:	n/a
35	chr11:59132298-59132348	HCT-116	colon:	n/a
36	chr11:59131003-59131053	GM12891	blood:	n/a
37	chr11:59131003-59131053	PANC-1	pancreas:	n/a
38	chr11:59132298-59132348	NHDF-neo	bronchial:	n/a
39	chr11:59132298-59132348	CMK	blood:	n/a
40	chr11:59132298-59132348	PANC-1	pancreas:	n/a
41	chr11:59132298-59132348	GM12891	blood:	n/a
42	chr11:59131003-59131053	HCT-116	colon:	n/a
43	chr11:59131003-59131053	SAEC	small airway:	n/a
44	chr11:59131003-59131053	K562	blood:	n/a
45	chr11:59132298-59132348	IMR90	lung:	fetal
46	chr11:59131003-59131053	SK-N-SH_RA	brain:	n/a
47	chr11:59131003-59131053	HEK293	kidney:	embryo
48	chr11:59132298-59132348	HRE	kidney:	n/a
49	chr11:59131003-59131053	HepG2	liver:	n/a
50	chr11:59132298-59132348	HRCEpiC	kidney:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:59119912..59122779-chr11:59129911..59131967,2	K562	blood:
2	chr11:59123282..59125322-chr11:59129227..59131831,2	K562	blood:
3	chr11:59179256..59181467-chr11:59196867..59199078,2	K562	blood:
4	chr11:59123282..59125322-chr11:59129227..59131831,2	K562	blood:

No data

Variant related genes	Relation type
OR5AN1	TF binding region
OR5BB1P	TF binding region
OR5AN1	CpG island
OR5BB1P	CpG island
ENSG00000176495	chromatin interactions

Extended variants
information (count: 888 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:888 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73478802	chr11:59119392-59119393	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187014204	chr11:59119424-59119425	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577348267	chr11:59119448-59119449	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs111519992	chr11:59119476-59119477	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559982996	chr11:59119508-59119509	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs74416527	chr11:59119526-59119527	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577089633	chr11:59119528-59119529	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191787893	chr11:59119593-59119594	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563311785	chr11:59119601-59119602	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs142887937	chr11:59119606-59119607	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542043961	chr11:59119644-59119645	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185053330	chr11:59119657-59119658	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534814051	chr11:59119672-59119673	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190293198	chr11:59119681-59119682	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568367331	chr11:59119696-59119697	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561726124	chr11:59119701-59119702	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557013808	chr11:59119704-59119705	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs147017366	chr11:59119821-59119822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575297746	chr11:59119837-59119838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs148029847	chr11:59119879-59119880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557833719	chr11:59119967-59119968	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs577408400	chr11:59119971-59119972	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs540736482	chr11:59119988-59119989	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs367740449	chr11:59120011-59120012	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs141741855	chr11:59120016-59120017	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs536038910	chr11:59120028-59120029	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs145110680	chr11:59120030-59120031	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs192966612	chr11:59120035-59120036	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs542081992	chr11:59120042-59120043	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs150632970	chr11:59120074-59120075	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs530791089	chr11:59120101-59120102	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs560532467	chr11:59120113-59120114	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs115091236	chr11:59120141-59120142	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs185589232	chr11:59120174-59120175	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs189521244	chr11:59120185-59120186	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs546795567	chr11:59120194-59120195	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs11525456	chr11:59120223-59120224	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs139776704	chr11:59120253-59120254	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs545283718	chr11:59120259-59120260	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs550874210	chr11:59120260-59120261	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs180817050	chr11:59120268-59120269	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs113670960	chr11:59120271-59120272	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs183657176	chr11:59120322-59120323	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs566562693	chr11:59120326-59120327	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs533621555	chr11:59120328-59120329	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs534304277	chr11:59120341-59120342	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs553164315	chr11:59120415-59120416	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs146299718	chr11:59120445-59120446	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs76685982	chr11:59120455-59120456	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs557228134	chr11:59120503-59120504	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Autism	22495309	CNVD
Autism	20808228	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:59117800-59122200	Weak transcription	Gastric	stomach
2	chr11:59119200-59119800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:59119600-59119800	ZNF genes & repeats	Pancreas	Pancrea
4	chr11:59119800-59120200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr11:59119800-59122400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:59119800-59122400	Weak transcription	Pancreas	Pancrea
7	chr11:59122000-59122200	Active TSS	Primary T killer memory cells from peripheral blood	blood
8	chr11:59122200-59122400	Enhancers	Gastric	stomach
9	chr11:59122200-59123600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr11:59122400-59123400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:59122400-59123800	Enhancers	Pancreas	Pancrea
12	chr11:59122800-59123400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr11:59135000-59137200	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr11:59135200-59135800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr11:59135200-59137400	Enhancers	Primary B cells from peripheral blood	blood
16	chr11:59135400-59136400	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr11:59135400-59136600	Enhancers	Fetal Thymus	thymus
18	chr11:59135400-59137000	Enhancers	Primary hematopoietic stem cells	blood
19	chr11:59135400-59137000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr11:59135400-59137200	Enhancers	Primary B cells from cord blood	blood
21	chr11:59135600-59136000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr11:59135600-59136400	Enhancers	Thymus	Thymus
23	chr11:59135600-59136400	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr11:59135800-59136800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr11:59136800-59137000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr11:59139200-59140400	Enhancers	Primary B cells from peripheral blood	blood
27	chr11:59144800-59145600	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr11:59145000-59145400	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr11:59147000-59147600	Enhancers	Primary B cells from peripheral blood	blood
30	chr11:59147200-59147800	Enhancers	Primary B cells from cord blood	blood
31	chr11:59147200-59147800	Enhancers	GM12878-XiMat	blood
32	chr11:59147200-59147800	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr11:59147800-59148000	Flanking Active TSS	GM12878-XiMat	blood
34	chr11:59147800-59148200	Active TSS	Primary B cells from cord blood	blood
35	chr11:59147800-59148600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr11:59148000-59148400	Active TSS	GM12878-XiMat	blood
37	chr11:59148200-59148800	Enhancers	Primary B cells from cord blood	blood
38	chr11:59148400-59148800	Flanking Active TSS	GM12878-XiMat	blood
39	chr11:59148800-59149000	Enhancers	GM12878-XiMat	blood
40	chr11:59162000-59162200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr11:59162200-59162800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr11:59162800-59163600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr11:59167800-59168200	Enhancers	Liver	Liver
44	chr11:59168200-59168600	Flanking Active TSS	Liver	Liver
45	chr11:59168600-59169600	Enhancers	Liver	Liver
46	chr11:59180000-59180800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr11:59180000-59181400	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr11:59180000-59182000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr11:59180200-59181200	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr11:59180400-59181600	Enhancers	Primary hematopoietic stem cells	blood

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