Variant report

Variant	nsv976360
Chromosome Location	chr14:84637552-84639420
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL11A	chr14:84638802-84639015	GM12878	blood:	n/a	n/a
2	BHLHE40	chr14:84638838-84639014	HepG2	liver:	n/a	n/a
3	HEY1	chr14:84638840-84639089	HepG2	liver:	n/a	n/a
4	JUND	chr14:84638874-84638976	HepG2	liver:	n/a	n/a
5	POLR2A	chr14:84638788-84638911	GM12878	blood:	n/a	n/a
6	RXRA	chr14:84638820-84639035	GM12878	blood:	n/a	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-497E19.2.1-11	chr14:84637711-84637947	NONHSAT038100
2	lnc-RP11-497E19.2.1-11	chr14:84638664-84638970	NONHSAT038100
3	lnc-RP11-497E19.2.1-10	chr14:84639185-84639950	NONHSAT038101

No data

Variant related genes	Relation type
ENSG00000258923	TF binding region
ENSG00000259012	TF binding region
ENSG00000258762	TF binding region

Extended variants
information (count: 41 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs55896305	chr14:84637711-84637712	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs143531691	chr14:84637713-84637714	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs187374700	chr14:84637718-84637719	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs116129634	chr14:84637720-84637721	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs541215491	chr14:84637755-84637756	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs147140046	chr14:84637760-84637761	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs530281537	chr14:84637767-84637768	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs192556654	chr14:84637780-84637781	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs116252181	chr14:84637803-84637804	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs530545011	chr14:84637811-84637812	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs74069607	chr14:84637848-84637849	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs144824040	chr14:84637861-84637862	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs528337641	chr14:84637877-84637878	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs546815424	chr14:84637924-84637925	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs528147951	chr14:84638709-84638710	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs375329759	chr14:84638715-84638716	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs546827454	chr14:84638716-84638717	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs140075564	chr14:84638739-84638740	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs367888484	chr14:84638750-84638751	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs529077160	chr14:84638760-84638761	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs532811305	chr14:84638761-84638762	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs189551369	chr14:84638762-84638763	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs558629915	chr14:84638817-84638818	Inactive region	TF binding region lncRNA	3 gene(s)	Overlapped CNVs	n/a
24	rs192239430	chr14:84638826-84638827	Inactive region	TF binding region lncRNA	3 gene(s)	Overlapped CNVs	n/a
25	rs17625864	chr14:84638837-84638838	Inactive region	TF binding region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs553170186	chr14:84638853-84638854	Inactive region	TF binding region lncRNA	3 gene(s)	Overlapped CNVs	n/a
27	rs574723002	chr14:84638890-84638891	Inactive region	TF binding region lncRNA	3 gene(s)	Overlapped CNVs	n/a
28	rs542006417	chr14:84638899-84638900	Inactive region	TF binding region lncRNA	3 gene(s)	Overlapped CNVs	n/a
29	rs557678603	chr14:84638964-84638965	Inactive region	TF binding region lncRNA	3 gene(s)	Overlapped CNVs	n/a
30	rs73367231	chr14:84638970-84638971	Inactive region	TF binding region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs545787904	chr14:84638978-84638979	Inactive region	TF binding region	3 gene(s)	Overlapped CNVs	n/a
32	rs185024915	chr14:84638980-84638981	Inactive region	TF binding region	3 gene(s)	Overlapped CNVs	n/a
33	rs143738843	chr14:84639040-84639041	Inactive region	TF binding region	3 gene(s)	Overlapped CNVs	n/a
34	rs372031277	chr14:84639201-84639202	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs530106479	chr14:84639231-84639232	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs529140560	chr14:84639239-84639240	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs550498146	chr14:84639265-84639266	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs188510675	chr14:84639334-84639335	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs181709812	chr14:84639341-84639342	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs552553671	chr14:84639363-84639364	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs570482380	chr14:84639390-84639391	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16608533	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

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

No data

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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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