Variant report

Variant	nsv521088
Chromosome Location	chr11:4925933-4928866
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:246)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr11:4926466-4926666	MCF10A-Er-Src	breast:	n/a	chr11:4926511-4926521 chr11:4926512-4926520 chr11:4926513-4926520
2	MAFF	chr11:4926928-4927116	K562	blood:	n/a	n/a
3	MAFF	chr11:4926947-4927181	HepG2	liver:	n/a	n/a
4	MAFK	chr11:4926919-4927192	IMR90	lung:	n/a	n/a
5	MAFK	chr11:4926882-4927214	HepG2	liver:	n/a	n/a
6	MAFK	chr11:4926916-4927175	HepG2	liver:	n/a	n/a
7	MAFK	chr11:4927065-4927100	K562	blood:	n/a	n/a
8	MYC	chr11:4927487-4927607	H1-hESC	embryonic stem cell:	n/a	n/a

(count:246 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:4927915-4927965	Hepatocyte	liver:	n/a
2	chr11:4928579-4928629	HAEpiC	amniotic membrane:	n/a
3	chr11:4927915-4927965	Hepatocyte	liver:	n/a
4	chr11:4928579-4928629	HAEpiC	amniotic membrane:	n/a
5	chr11:4928572-4928622	HUVEC	blood vessel:	n/a
6	chr11:4928760-4928810	HIPEpiC	eye:	n/a
7	chr11:4928579-4928629	IMR90	lung:	fetal
8	chr11:4928579-4928629	HCPEpiC	choroid plexus:	n/a
9	chr11:4928760-4928810	HRPEpiC	eye:	n/a
10	chr11:4928572-4928622	HCT-116	colon:	n/a
11	chr11:4928760-4928810	SKMC	muscle:	n/a
12	chr11:4927915-4927965	PrEC	prostate:	n/a
13	chr11:4927915-4927965	ECC-1	luminal epithelium:	n/a
14	chr11:4928760-4928810	HMEC	breast:	n/a
15	chr11:4928572-4928622	ovcar-3	ovarian:	n/a
16	chr11:4928760-4928810	Jurkat	blood:	n/a
17	chr11:4928760-4928810	ProgFib	skin:	n/a
18	chr11:4928579-4928629	AG10803	skin:	n/a
19	chr11:4927915-4927965	Jurkat	blood:	n/a
20	chr11:4928760-4928810	HCM	heart:	n/a
21	chr11:4927915-4927965	GM12891	blood:	n/a
22	chr11:4928760-4928810	HCPEpiC	choroid plexus:	n/a
23	chr11:4928760-4928810	A549	lung:	n/a
24	chr11:4927915-4927965	GM12878	blood:	n/a
25	chr11:4928579-4928629	GM12891	blood:	n/a
26	chr11:4928579-4928629	HIPEpiC	eye:	n/a
27	chr11:4928579-4928629	SK-N-SH	brain:	n/a
28	chr11:4928572-4928622	GM06990	blood:	n/a
29	chr11:4928760-4928810	PFSK-1	brain:	n/a
30	chr11:4927915-4927965	AG04450	lung:	fetal
31	chr11:4927915-4927965	U87	brain:	n/a
32	chr11:4928579-4928629	CMK	blood:	n/a
33	chr11:4927915-4927965	CMK	blood:	n/a
34	chr11:4928760-4928810	PANC-1	pancreas:	n/a
35	chr11:4928760-4928810	SK-N-SH	brain:	n/a
36	chr11:4928572-4928622	HCF	heart:	n/a
37	chr11:4928579-4928629	GM06990	blood:	n/a
38	chr11:4928760-4928810	SK-N-MC	brain:	n/a
39	chr11:4928760-4928810	GM19239	blood:	n/a
40	chr11:4928572-4928622	HPAEpiC	pulmonary alveolar:	n/a
41	chr11:4928572-4928622	MCF10A-Er-Src	breast:	n/a
42	chr11:4928579-4928629	GM19239	blood:	n/a
43	chr11:4928760-4928810	HCF	heart:	n/a
44	chr11:4928760-4928810	HEK293	kidney:	embryo
45	chr11:4927915-4927965	HNPCEpiC	eye:	n/a
46	chr11:4928760-4928810	Caco-2	colon:	n/a
47	chr11:4928572-4928622	AG09309	skin:	n/a
48	chr11:4927915-4927965	AG10803	skin:	n/a
49	chr11:4927915-4927965	ovcar-3	ovarian:	n/a
50	chr11:4928572-4928622	GM12891	blood:	n/a

No data

Variant related genes	Relation type
OR51A7	TF binding region
OR51A7	CpG island

Extended variants
information (count: 51 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183293063	chr11:4926471-4926472	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs377444031	chr11:4926513-4926514	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs574441895	chr11:4926555-4926556	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs112673945	chr11:4926577-4926578	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs186789034	chr11:4926587-4926588	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs141377156	chr11:4926946-4926947	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs10500628	chr11:4926947-4926948	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs146986156	chr11:4926964-4926965	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs570770498	chr11:4926983-4926984	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs76093317	chr11:4927023-4927024	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs534904042	chr11:4927036-4927037	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs553125106	chr11:4927062-4927063	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs574914771	chr11:4927064-4927065	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs544567664	chr11:4927080-4927081	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs191589512	chr11:4927165-4927166	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs535573867	chr11:4927167-4927168	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs547257209	chr11:4927192-4927193	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs572058420	chr11:4927569-4927570	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs574973802	chr11:4927605-4927606	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs141800287	chr11:4927935-4927936	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
21	rs11034591	chr11:4927961-4927962	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
22	rs12421906	chr11:4928456-4928457	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs146225213	chr11:4928496-4928497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550863286	chr11:4928504-4928505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569408445	chr11:4928505-4928506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs139207336	chr11:4928540-4928541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557875488	chr11:4928550-4928551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs367579428	chr11:4928559-4928560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372300599	chr11:4928572-4928573	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
30	rs375433219	chr11:4928573-4928574	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
31	rs112146430	chr11:4928579-4928580	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
32	rs371873986	chr11:4928580-4928581	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
33	rs11034596	chr11:4928621-4928622	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs555644363	chr11:4928656-4928657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs147018668	chr11:4928691-4928692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567574105	chr11:4928700-4928701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375007040	chr11:4928714-4928715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112930526	chr11:4928719-4928720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs544417993	chr11:4928728-4928729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs78548289	chr11:4928731-4928732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188107887	chr11:4928761-4928762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs35302315	chr11:4928786-4928787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545936284	chr11:4928807-4928808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200603348	chr11:4928810-4928811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs267602923	chr11:4928813-4928814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369220035	chr11:4928823-4928824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs144796552	chr11:4928830-4928831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs7108225	chr11:4928841-4928842	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs141919327	chr11:4928842-4928843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556390974	chr11:4928860-4928861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19812545	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
early-passage human iPS cells	21368824	CNVD
Cancer	20164919	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4928400-4929200	Weak transcription	Left Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links