Variant report

Variant	nsv553295
Chromosome Location	chr11:5760947-5805515
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:72)
CpG islands
(count:183)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:72 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:5775147-5775155	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr11:5789182-5789250	A549	lung:	n/a	chr11:5789200-5789211
3	CEBPB	chr11:5788246-5788520	HepG2	liver:	n/a	n/a
4	CEBPB	chr11:5788174-5788674	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr11:5764267-5764515	IMR90	lung:	n/a	n/a
6	CEBPB	chr11:5789130-5789308	HepG2	liver:	n/a	chr11:5789200-5789211
7	CTCF	chr11:5786760-5786910	GM12864	blood:	n/a	n/a
8	CTCF	chr11:5779380-5779530	AG09319	gingival:	n/a	n/a
9	CTCF	chr11:5762540-5762690	Caco-2	colon:	n/a	n/a
10	E2F4	chr11:5783131-5784075	MCF10A-Er-Src	breast:	n/a	n/a
11	E2F4	chr11:5771736-5772054	MCF10A-Er-Src	breast:	n/a	n/a
12	E2F4	chr11:5782668-5782868	MCF10A-Er-Src	breast:	n/a	n/a
13	E2F4	chr11:5800936-5801305	MCF10A-Er-Src	breast:	n/a	n/a
14	EBF1	chr11:5770156-5770325	GM12878	blood:	n/a	chr11:5770256-5770269
15	EBF1	chr11:5770104-5770416	GM12878	blood:	n/a	chr11:5770256-5770269
16	FOS	chr11:5788384-5788549	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr11:5788361-5788464	MCF10A-Er-Src	breast:	n/a	n/a
18	FOXA1	chr11:5777816-5778159	T-47D	breast:	n/a	n/a
19	FOXA1	chr11:5777809-5778219	T-47D	breast:	n/a	n/a
20	GATA3	chr11:5777791-5778192	T-47D	breast:	n/a	n/a
21	GATA3	chr11:5777768-5778219	T-47D	breast:	n/a	n/a
22	GTF2F1	chr11:5767177-5767182	H1-hESC	embryonic stem cell:	n/a	n/a
23	IRF3	chr11:5767144-5767198	GM12878	blood:	n/a	n/a
24	JUN	chr11:5771503-5771519	HepG2	liver:	n/a	n/a
25	JUN	chr11:5792017-5792107	H1-hESC	embryonic stem cell:	n/a	n/a
26	KAP1	chr11:5789889-5790424	K562	blood:	n/a	n/a
27	KAP1	chr11:5763024-5763281	K562	blood:	n/a	n/a
28	KAP1	chr11:5774149-5774501	K562	blood:	n/a	n/a
29	MAFF	chr11:5771103-5771425	HepG2	liver:	n/a	chr11:5771265-5771279 chr11:5771266-5771284
30	MAFF	chr11:5771106-5771329	K562	blood:	n/a	chr11:5771265-5771279 chr11:5771266-5771284
31	MAFF	chr11:5770394-5770519	HepG2	liver:	n/a	n/a
32	MAFK	chr11:5805138-5805183	IMR90	lung:	n/a	n/a
33	MAFK	chr11:5771254-5771311	K562	blood:	n/a	chr11:5771262-5771282
34	MAFK	chr11:5771087-5771428	HepG2	liver:	n/a	chr11:5771262-5771282
35	MAFK	chr11:5770417-5770572	HepG2	liver:	n/a	chr11:5770492-5770508 chr11:5770495-5770509 chr11:5770496-5770507
36	MAFK	chr11:5800456-5800595	HepG2	liver:	n/a	chr11:5800539-5800554 chr11:5800538-5800552 chr11:5800540-5800560
37	MAFK	chr11:5800411-5800611	HepG2	liver:	n/a	chr11:5800539-5800554 chr11:5800538-5800552 chr11:5800540-5800560
38	MAFK	chr11:5771094-5771423	HepG2	liver:	n/a	chr11:5771262-5771282
39	MAFK	chr11:5771101-5771399	IMR90	lung:	n/a	chr11:5771262-5771282
40	MAFK	chr11:5782122-5782194	H1-hESC	embryonic stem cell:	n/a	n/a
41	MYC	chr11:5790602-5790660	H1-hESC	embryonic stem cell:	n/a	n/a
42	NFYB	chr11:5792018-5792200	Hela-S3	cervix:	n/a	n/a
43	NRF1	chr11:5791607-5791666	K562	blood:	n/a	n/a
44	POLR2A	chr11:5781710-5781714	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr11:5789114-5789314	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr11:5803638-5803658	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr11:5799805-5799835	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr11:5790861-5790884	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr11:5763909-5764016	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr11:5796644-5796838	MCF10A-Er-Src	breast:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:5800287-5800337	HepG2	liver:	n/a
2	chr11:5800287-5800337	HRPEpiC	eye:	n/a
3	chr11:5800287-5800337	HPAEpiC	pulmonary alveolar:	n/a
4	chr11:5801244-5801294	GM12892	blood:	n/a
5	chr11:5801244-5801294	MCF-7	breast:	n/a
6	chr11:5799446-5799496	PANC-1	pancreas:	n/a
7	chr11:5800287-5800337	HRE	kidney:	n/a
8	chr11:5800287-5800337	BJ	skin:	n/a
9	chr11:5799446-5799496	NHDF-neo	bronchial:	n/a
10	chr11:5800287-5800337	SK-N-SH_RA	brain:	n/a
11	chr11:5800287-5800337	NT2-D1	testis:	n/a
12	chr11:5799446-5799496	NHBE	bronchial:	n/a
13	chr11:5800287-5800337	T-47D	breast:	n/a
14	chr11:5799446-5799496	HPAEpiC	pulmonary alveolar:	n/a
15	chr11:5800287-5800337	BE2_C	brain:	n/a
16	chr11:5800287-5800337	CMK	blood:	n/a
17	chr11:5799446-5799496	Hela-S3	cervix:	n/a
18	chr11:5801244-5801294	SK-N-MC	brain:	n/a
19	chr11:5801244-5801294	PANC-1	pancreas:	n/a
20	chr11:5800287-5800337	PrEC	prostate:	n/a
21	chr11:5800287-5800337	NH-A	brain:	n/a
22	chr11:5801244-5801294	AG09319	gingival:	n/a
23	chr11:5800287-5800337	H1-hESC	embryonic stem cell:	embryo
24	chr11:5800287-5800337	ECC-1	luminal epithelium:	n/a
25	chr11:5799446-5799496	RPTEC	kidney:	n/a
26	chr11:5801244-5801294	HepG2	liver:	n/a
27	chr11:5800287-5800337	MCF-7	breast:	n/a
28	chr11:5801244-5801294	NB4	blood:	n/a
29	chr11:5801244-5801294	Caco-2	colon:	n/a
30	chr11:5801244-5801294	A549	lung:	n/a
31	chr11:5799446-5799496	HIPEpiC	eye:	n/a
32	chr11:5799446-5799496	ProgFib	skin:	n/a
33	chr11:5801244-5801294	HAEpiC	amniotic membrane:	n/a
34	chr11:5801244-5801294	AoSMC	blood vessel:	n/a
35	chr11:5800287-5800337	HCPEpiC	choroid plexus:	n/a
36	chr11:5801244-5801294	SAEC	small airway:	n/a
37	chr11:5801244-5801294	LNCaP	prostate:	n/a
38	chr11:5800287-5800337	SKMC	muscle:	n/a
39	chr11:5799446-5799496	BE2_C	brain:	n/a
40	chr11:5801244-5801294	HIPEpiC	eye:	n/a
41	chr11:5799446-5799496	T-47D	breast:	n/a
42	chr11:5799446-5799496	U87	brain:	n/a
43	chr11:5799446-5799496	HCF	heart:	n/a
44	chr11:5800287-5800337	GM12892	blood:	n/a
45	chr11:5799446-5799496	GM12891	blood:	n/a
46	chr11:5800287-5800337	HEK293	kidney:	embryo
47	chr11:5801244-5801294	HRE	kidney:	n/a
48	chr11:5800287-5800337	HCM	heart:	n/a
49	chr11:5800287-5800337	PFSK-1	brain:	n/a
50	chr11:5799446-5799496	GM12878	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:5757074..5759023-chr11:5763300..5765136,2	K562	blood:
2	11:5076469-5081549..11:5767550-5775401	K562	blood:

No data

Variant related genes	Relation type
OR56B2P	TF binding region
OR52N5	TF binding region
OR52N4	TF binding region
OR56B2P	CpG island
OR52N5	CpG island
OR52N4	CpG island
ENSG00000176787	chromatin interactions
ENSG00000181023	chromatin interactions

Extended variants
information (count: 514 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:514 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540529044	chr11:5760972-5760973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs189958527	chr11:5761005-5761006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs147903192	chr11:5761011-5761012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183984023	chr11:5761013-5761014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs558480239	chr11:5761096-5761097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573322306	chr11:5761135-5761136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540627779	chr11:5761151-5761152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs115930882	chr11:5761152-5761153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs187374089	chr11:5761159-5761160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12291965	chr11:5761164-5761165	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs12800197	chr11:5761219-5761220	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs532949495	chr11:5761304-5761305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs72878687	chr11:5761322-5761323	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs12273853	chr11:5761326-5761327	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs527541164	chr11:5761334-5761335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548977690	chr11:5761400-5761401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs11038899	chr11:5761466-5761467	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs140012648	chr11:5761493-5761494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551084440	chr11:5761576-5761577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567608652	chr11:5761580-5761581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs145329794	chr11:5761612-5761613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569513993	chr11:5761619-5761620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540034715	chr11:5761620-5761621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558337356	chr11:5761676-5761677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191819751	chr11:5761723-5761724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534195660	chr11:5761788-5761789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs76095649	chr11:5761797-5761798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs573931999	chr11:5761801-5761802	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544730141	chr11:5761815-5761816	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs117050336	chr11:5761819-5761820	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550072974	chr11:5761820-5761821	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544810696	chr11:5761826-5761827	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs559881981	chr11:5761834-5761835	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs527603623	chr11:5761848-5761849	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542534011	chr11:5761869-5761870	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570215887	chr11:5761907-5761908	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs883984	chr11:5762019-5762020	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs883985	chr11:5762027-5762028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571369035	chr11:5762059-5762060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532207562	chr11:5762133-5762134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572110946	chr11:5762161-5762162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7482619	chr11:5762209-5762210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183231044	chr11:5762270-5762271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534538343	chr11:5762272-5762273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565631095	chr11:5762300-5762301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555774096	chr11:5762310-5762311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs567696619	chr11:5762324-5762325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537851209	chr11:5762368-5762369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs883983	chr11:5762389-5762390	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs188730013	chr11:5762607-5762608	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5747400-5762400	Weak transcription	Left Ventricle	heart
2	chr11:5761800-5762000	ZNF genes & repeats	Gastric	stomach
3	chr11:5762600-5762800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived

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