Variant report

Variant	nsv514733
Chromosome Location	chr14:22053460-22055732
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	MAFK	chr14:22054917-22055048	HepG2	liver:	n/a	chr14:22054927-22054942
2	MAFK	chr14:22054906-22055075	HepG2	liver:	n/a	chr14:22054927-22054942
3	MYC	chr14:22054999-22055033	MCF-7	breast:	n/a	n/a
4	MYC	chr14:22054981-22054996	MCF-7	breast:	n/a	n/a
5	POLR2A	chr14:22054919-22055057	MCF-7	breast:	n/a	n/a
6	ZNF143	chr14:22053542-22053628	K562	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR10G3-1	chr14:22053414-22054404	NONHSAT035698

Variant related genes	Relation type
ENSG00000256081	TF binding region

Extended variants
information (count: 81 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570473197	chr14:22053482-22053483	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs373638953	chr14:22053513-22053514	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs115766144	chr14:22053529-22053530	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs116133752	chr14:22053628-22053629	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs6571922	chr14:22053675-22053676	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs17182620	chr14:22053729-22053730	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs35633348	chr14:22053782-22053783	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs551068418	chr14:22053806-22053807	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs6571924	chr14:22053817-22053818	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs531879699	chr14:22053818-22053819	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs6571925	chr14:22053863-22053864	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs185847178	chr14:22053921-22053922	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs17254834	chr14:22053923-22053924	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs563669592	chr14:22053970-22053971	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs190648666	chr14:22054025-22054026	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs182385798	chr14:22054033-22054034	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs187992027	chr14:22054049-22054050	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs192613514	chr14:22054080-22054081	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs552119445	chr14:22054114-22054115	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs148696935	chr14:22054130-22054131	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs567153731	chr14:22054131-22054132	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
22	rs142201401	chr14:22054154-22054155	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs151145974	chr14:22054169-22054170	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs140208969	chr14:22054187-22054188	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs182629099	chr14:22054197-22054198	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs571916978	chr14:22054265-22054266	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs540791094	chr14:22054321-22054322	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs557649349	chr14:22054322-22054323	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs577502981	chr14:22054339-22054340	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs11624849	chr14:22054353-22054354	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs8022134	chr14:22054398-22054399	Weak transcription	lncRNA	n/a	Overlapped CNVs	mRNA abundance
32	rs571309253	chr14:22054426-22054427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567489553	chr14:22054441-22054442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs75505812	chr14:22054448-22054449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573906291	chr14:22054451-22054452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187997740	chr14:22054471-22054472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs11847952	chr14:22054477-22054478	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs556595457	chr14:22054490-22054491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192514041	chr14:22054552-22054553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs528718418	chr14:22054561-22054562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372592006	chr14:22054567-22054568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551982807	chr14:22054597-22054598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs185079200	chr14:22054613-22054614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs531226101	chr14:22054662-22054663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs143987693	chr14:22054683-22054684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569635277	chr14:22054696-22054697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs11624979	chr14:22054718-22054719	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs188913707	chr14:22054720-22054721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565405760	chr14:22054721-22054722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534534110	chr14:22054723-22054724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Cancer	20164920	CNVD
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
Cone-rod dystrophy	18421352	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	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
Breast cancer	17899364	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	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
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Alzheimer''s disease	21482944	CNVD
Mental retardation	19951919	CNVD
Neuroblastoma	21899760	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Esophageal cancer	20955586	CNVD
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	16773561	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17440070	CNVD
Breast cancer	16272173	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
severe speech impairment	20736978	CNVD
speech impairment	20736978	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
Cancer	20164919	CNVD
Breast cancer	21364760	CNVD
Mortal	21835882	CNVD
Breast cancer	21858162	CNVD
Autism	22102821	CNVD
Ewing''s sarcoma	18628472	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:22049600-22054800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:22053800-22054200	Enhancers	NHEK	skin
3	chr14:22054800-22055200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr14:22055200-22055600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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