Variant report

Variant	nsv1041196
Chromosome Location	chr11:5790800-5829039
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:82)
CpG islands
(count:305)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:82 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr11:5825288-5825535	K562	blood:	n/a	n/a
2	CBX3	chr11:5825224-5825619	K562	blood:	n/a	n/a
3	CEBPB	chr11:5818464-5818701	HepG2	liver:	n/a	chr11:5818599-5818608 chr11:5818599-5818608 chr11:5818598-5818609 chr11:5818599-5818608 chr11:5818597-5818608 chr11:5818599-5818608
4	CEBPB	chr11:5818545-5818706	A549	lung:	n/a	chr11:5818599-5818608 chr11:5818599-5818608 chr11:5818598-5818609 chr11:5818599-5818608 chr11:5818597-5818608 chr11:5818599-5818608
5	CTCF	chr11:5828922-5829094	NHEK	skin:	n/a	n/a
6	CTCF	chr11:5828971-5829050	GM12892	blood:	n/a	n/a
7	CTCF	chr11:5828950-5829055	MCF-7	breast:	n/a	n/a
8	CTCF	chr11:5828860-5829010	SK-N-SH_RA	brain:	n/a	n/a
9	CTCF	chr11:5828929-5829072	GM19240	blood:	n/a	n/a
10	CTCF	chr11:5828916-5829103	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr11:5809320-5809470	GM12866	blood:	n/a	n/a
12	CTCF	chr11:5828879-5829142	GM12891	blood:	n/a	n/a
13	CTCF	chr11:5828945-5829071	MCF-7	breast:	n/a	n/a
14	CTCF	chr11:5828941-5829100	GM19238	blood:	n/a	n/a
15	CTCF	chr11:5828874-5829135	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr11:5828867-5829114	HepG2	liver:	n/a	n/a
17	CTCF	chr11:5828964-5829056	MCF-7	breast:	n/a	n/a
18	CTCF	chr11:5828915-5829079	HepG2	liver:	n/a	n/a
19	CTCF	chr11:5828940-5829090	HepG2	liver:	n/a	n/a
20	CTCF	chr11:5828866-5829184	HepG2	liver:	n/a	n/a
21	CTCF	chr11:5828927-5829091	Gliobla	brain:	n/a	n/a
22	CTCF	chr11:5828922-5829072	MCF-7	breast:	n/a	n/a
23	CTCF	chr11:5828760-5828910	GM06990	blood:	n/a	n/a
24	CTCF	chr11:5828900-5829050	Caco-2	colon:	n/a	n/a
25	CTCF	chr11:5828949-5829080	Fibrobl	skin:	n/a	n/a
26	CTCF	chr11:5828946-5829043	GM20000	blood:	n/a	n/a
27	CTCF	chr11:5829000-5829150	HBMEC	blood vessel:	n/a	n/a
28	CTCF	chr11:5828860-5829010	HepG2	liver:	n/a	n/a
29	CTCF	chr11:5828927-5829093	A549	lung:	n/a	n/a
30	CTCF	chr11:5828900-5829050	NB4	blood:	n/a	n/a
31	CTCF	chr11:5828880-5829030	WERI-Rb-1	eye:	n/a	n/a
32	E2F4	chr11:5800936-5801305	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr11:5826693-5826790	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr11:5826706-5826801	MCF10A-Er-Src	breast:	n/a	n/a
35	FOS	chr11:5826613-5826885	MCF10A-Er-Src	breast:	n/a	n/a
36	GATA3	chr11:5828067-5828394	T-47D	breast:	n/a	n/a
37	JUN	chr11:5792017-5792107	H1-hESC	embryonic stem cell:	n/a	n/a
38	KAP1	chr11:5824981-5825993	K562	blood:	n/a	n/a
39	MAFF	chr11:5822449-5822620	HepG2	liver:	n/a	chr11:5822570-5822588
40	MAFK	chr11:5800456-5800595	HepG2	liver:	n/a	chr11:5800539-5800554 chr11:5800538-5800552 chr11:5800540-5800560
41	MAFK	chr11:5822455-5822602	HepG2	liver:	n/a	chr11:5822572-5822582 chr11:5822571-5822586 chr11:5822573-5822582
42	MAFK	chr11:5819987-5820055	H1-hESC	embryonic stem cell:	n/a	n/a
43	MAFK	chr11:5805138-5805183	IMR90	lung:	n/a	n/a
44	MAFK	chr11:5800411-5800611	HepG2	liver:	n/a	chr11:5800539-5800554 chr11:5800538-5800552 chr11:5800540-5800560
45	MAFK	chr11:5822459-5822719	HepG2	liver:	n/a	chr11:5822572-5822582 chr11:5822571-5822586 chr11:5822573-5822582
46	MAZ	chr11:5810427-5810444	HepG2	liver:	n/a	n/a
47	MYC	chr11:5826650-5826790	MCF10A-Er-Src	breast:	n/a	n/a
48	MYC	chr11:5826706-5826725	MCF10A-Er-Src	breast:	n/a	n/a
49	MYC	chr11:5810776-5810791	H1-hESC	embryonic stem cell:	n/a	n/a
50	NFYB	chr11:5792018-5792200	Hela-S3	cervix:	n/a	n/a

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:5801244-5801294	LNCaP	prostate:	n/a
2	chr11:5800287-5800337	K562	blood:	n/a
3	chr11:5799446-5799496	ProgFib	skin:	n/a
4	chr11:5799446-5799496	AG09319	gingival:	n/a
5	chr11:5811184-5811234	U87	brain:	n/a
6	chr11:5801244-5801294	ProgFib	skin:	n/a
7	chr11:5801244-5801294	Jurkat	blood:	n/a
8	chr11:5800287-5800337	SAEC	small airway:	n/a
9	chr11:5811184-5811234	PrEC	prostate:	n/a
10	chr11:5811184-5811234	Jurkat	blood:	n/a
11	chr11:5801244-5801294	SK-N-SH_RA	brain:	n/a
12	chr11:5809911-5809961	HNPCEpiC	eye:	n/a
13	chr11:5811184-5811234	ECC-1	luminal epithelium:	n/a
14	chr11:5799446-5799496	HEEpiC	esophagus:	n/a
15	chr11:5809911-5809961	H1-hESC	embryonic stem cell:	embryo
16	chr11:5801244-5801294	AG09319	gingival:	n/a
17	chr11:5799446-5799496	SK-N-SH	brain:	n/a
18	chr11:5811184-5811234	H1-hESC	embryonic stem cell:	embryo
19	chr11:5811184-5811234	HepG2	liver:	n/a
20	chr11:5799446-5799496	HIPEpiC	eye:	n/a
21	chr11:5801244-5801294	GM12878	blood:	n/a
22	chr11:5809911-5809961	NB4	blood:	n/a
23	chr11:5811184-5811234	HNPCEpiC	eye:	n/a
24	chr11:5800287-5800337	Caco-2	colon:	n/a
25	chr11:5799446-5799496	T-47D	breast:	n/a
26	chr11:5800287-5800337	MCF10A-Er-Src	breast:	n/a
27	chr11:5811184-5811234	SK-N-SH	brain:	n/a
28	chr11:5801244-5801294	NT2-D1	testis:	n/a
29	chr11:5801244-5801294	BJ	skin:	n/a
30	chr11:5809911-5809961	HUVEC	blood vessel:	n/a
31	chr11:5809911-5809961	HIPEpiC	eye:	n/a
32	chr11:5811184-5811234	SK-N-SH_RA	brain:	n/a
33	chr11:5800287-5800337	HEK293	kidney:	embryo
34	chr11:5809911-5809961	HRE	kidney:	n/a
35	chr11:5809911-5809961	AoSMC	blood vessel:	n/a
36	chr11:5811184-5811234	NH-A	brain:	n/a
37	chr11:5799446-5799496	HCT-116	colon:	n/a
38	chr11:5799446-5799496	GM06990	blood:	n/a
39	chr11:5799446-5799496	RPTEC	kidney:	n/a
40	chr11:5809911-5809961	HEEpiC	esophagus:	n/a
41	chr11:5811184-5811234	HRE	kidney:	n/a
42	chr11:5811184-5811234	HRPEpiC	eye:	n/a
43	chr11:5811184-5811234	HCF	heart:	n/a
44	chr11:5811184-5811234	Caco-2	colon:	n/a
45	chr11:5809911-5809961	CMK	blood:	n/a
46	chr11:5811184-5811234	HIPEpiC	eye:	n/a
47	chr11:5801244-5801294	U87	brain:	n/a
48	chr11:5800287-5800337	AG04450	lung:	fetal
49	chr11:5801244-5801294	AG10803	skin:	n/a
50	chr11:5811184-5811234	BE2_C	brain:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr11:5811775..5813823-chr11:5815438..5817025,2	K562	blood:
2	chr11:5811775..5813823-chr11:5815438..5817025,2	K562	blood:
3	chr11:5823269..5825988-chr11:5829238..5831177,2	K562	blood:

No data

Variant related genes	Relation type
OR52N1	TF binding region
OR52N5	TF binding region
OR52N3P	TF binding region
OR52N1	CpG island
OR52N5	CpG island
OR52N3P	CpG island

Extended variants
information (count: 463 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:463 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546574017	chr11:5800431-5800432	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs11039010	chr11:5800436-5800437	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs138608576	chr11:5800472-5800473	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs550475196	chr11:5800486-5800487	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs371477887	chr11:5800489-5800490	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs11039011	chr11:5800573-5800574	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs531586330	chr11:5800606-5800607	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs546078857	chr11:5800940-5800941	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs79821645	chr11:5800996-5800997	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs374708121	chr11:5801034-5801035	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs528542727	chr11:5801065-5801066	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs552739228	chr11:5801083-5801084	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs540348467	chr11:5801087-5801088	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs139000429	chr11:5801093-5801094	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs529257921	chr11:5801130-5801131	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs12362906	chr11:5801153-5801154	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs183250955	chr11:5801212-5801213	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs376375279	chr11:5801224-5801225	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs188710346	chr11:5801233-5801234	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs527895294	chr11:5801244-5801245	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
21	rs551274068	chr11:5801269-5801270	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
22	rs191067689	chr11:5801276-5801277	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
23	rs531740074	chr11:5801339-5801340	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs533845936	chr11:5801383-5801384	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs555518709	chr11:5801403-5801404	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs567232755	chr11:5801496-5801497	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs10769214	chr11:5802853-5802854	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs111441353	chr11:5802902-5802903	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs12794769	chr11:5809230-5809231	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs79632520	chr11:5809241-5809242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs562500737	chr11:5809243-5809244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs147782763	chr11:5809244-5809245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs11039036	chr11:5809248-5809249	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs201810252	chr11:5809280-5809281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs200275481	chr11:5809281-5809282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs368530180	chr11:5809282-5809283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs35850861	chr11:5809288-5809289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs368718813	chr11:5809302-5809303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs7934670	chr11:5809308-5809309	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs372175646	chr11:5809339-5809340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs375347086	chr11:5809340-5809341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs548980477	chr11:5809341-5809342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs146958510	chr11:5809354-5809355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs368353863	chr11:5809395-5809396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs139204244	chr11:5809396-5809397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs11823184	chr11:5809405-5809406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs375501780	chr11:5809439-5809440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs147301110	chr11:5809455-5809456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs140764863	chr11:5809456-5809457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs10838637	chr11:5809477-5809478	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:65)

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
Esophageal adenocarcinoma	18519675	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
Breast cancer	22522925	CNVD
Pancreatic cancer	23613489	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Ependymoma	20639864	CNVD
Type 2 diabetes	21526130	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5809200-5809600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:5812200-5812600	Enhancers	Fetal Brain Male	brain
3	chr11:5818400-5819000	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr11:5821000-5821800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr11:5821000-5824400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr11:5821600-5821800	Enhancers	Left Ventricle	heart
7	chr11:5821600-5822000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr11:5823200-5829600	Weak transcription	Fetal Heart	heart
9	chr11:5824400-5826200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr11:5825800-5829400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr11:5826200-5828600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr11:5828600-5828800	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr11:5828600-5828800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr11:5828800-5829000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr11:5828800-5829200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:5828800-5829200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr11:5828800-5829600	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr11:5828800-5829800	Enhancers	H1 Cell Line	embryonic stem cell
19	chr11:5828800-5829800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr11:5828800-5829800	Enhancers	Placenta	Placenta
21	chr11:5828800-5832200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr11:5829000-5829200	Enhancers	Right Atrium	heart
23	chr11:5829000-5829200	Active TSS	Right Ventricle	heart
24	chr11:5829000-5829600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links