Variant report

Variant	nsv975846
Chromosome Location	chr11:55619756-55628501
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr11:55627814-55628095	GM12878	blood:	n/a	n/a
2	BATF	chr11:55627832-55628094	GM12878	blood:	n/a	n/a
3	CTCF	chr11:55624280-55624430	GM12870	blood:	n/a	n/a
4	CTCF	chr11:55628423-55628455	Pancreas_OC	pancreas:	n/a	n/a
5	EBF1	chr11:55622283-55622658	GM12878	blood:	n/a	n/a
6	JUN	chr11:55623573-55623748	HepG2	liver:	n/a	chr11:55623647-55623660
7	JUND	chr11:55623524-55623724	HepG2	liver:	n/a	n/a
8	JUND	chr11:55619644-55619967	HepG2	liver:	n/a	chr11:55619798-55619807
9	MAFF	chr11:55626135-55626160	K562	blood:	n/a	n/a
10	MAFK	chr11:55626014-55626195	HepG2	liver:	n/a	chr11:55626138-55626153
11	MAFK	chr11:55625982-55626283	HepG2	liver:	n/a	chr11:55626138-55626153
12	MAFK	chr11:55626006-55626228	IMR90	lung:	n/a	chr11:55626138-55626153
13	NFYB	chr11:55622334-55622514	GM12878	blood:	n/a	n/a
14	POLR2A	chr11:55623862-55623895	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr11:55626983-55627042	MCF10A-Er-Src	breast:	n/a	n/a
16	STAT3	chr11:55619743-55619983	MCF10A-Er-Src	breast:	n/a	n/a
17	WRNIP1	chr11:55622522-55622705	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000255204	TF binding region
OR9M1P	TF binding region
ENSG00000255499	TF binding region

Extended variants
information (count: 40 )
Associated
traits (count: 45 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575693671	chr11:55619758-55619759	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs542747742	chr11:55619779-55619780	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs75994624	chr11:55619785-55619786	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs147371762	chr11:55619801-55619802	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs577011154	chr11:55619805-55619806	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs372230042	chr11:55619814-55619815	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs541393139	chr11:55619829-55619830	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs559789092	chr11:55619887-55619888	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs530061560	chr11:55619980-55619981	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs531095693	chr11:55622296-55622297	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs540753232	chr11:55622315-55622316	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs551308314	chr11:55622317-55622318	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs562018151	chr11:55622324-55622325	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs111346546	chr11:55622347-55622348	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs373480747	chr11:55622348-55622349	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs563249856	chr11:55622349-55622350	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs146833894	chr11:55622381-55622382	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs189358241	chr11:55622387-55622388	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs564144324	chr11:55622426-55622427	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs528055378	chr11:55622431-55622432	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs17148297	chr11:55622451-55622452	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs568030764	chr11:55622474-55622475	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs536066274	chr11:55622504-55622505	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs551152041	chr11:55622553-55622554	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs193243743	chr11:55622610-55622611	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs367663889	chr11:55622617-55622618	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs370302287	chr11:55622698-55622699	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs534071003	chr11:55626985-55626986	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs376051059	chr11:55627042-55627043	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs547740158	chr11:55627820-55627821	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs189321047	chr11:55627854-55627855	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs192617485	chr11:55627868-55627869	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs547239774	chr11:55627871-55627872	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs558355378	chr11:55627919-55627920	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs184444505	chr11:55627977-55627978	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs534878916	chr11:55627980-55627981	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs375349532	chr11:55627996-55627997	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs190182912	chr11:55628015-55628016	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs575139558	chr11:55628025-55628026	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs12806436	chr11:55628068-55628069	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:45)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Renal cell carcinoma	18194544	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21990379	CNVD
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	17142309	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	15273396	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
Multiple myeloma	16616336	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20967226	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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