Variant report

Variant	nsv984145
Chromosome Location	chr15:82765869-82769948
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	CTCF	chr15:82769130-82769409	A549	lung:	n/a	n/a
2	CTCF	chr15:82769111-82769443	A549	lung:	n/a	n/a
3	CTCF	chr15:82769057-82769483	A549	lung:	n/a	n/a
4	CTCF	chr15:82768803-82769509	K562	blood:	n/a	n/a
5	CTCF	chr15:82769102-82769480	K562	blood:	n/a	n/a
6	CTCF	chr15:82769077-82769430	K562	blood:	n/a	n/a
7	EBF1	chr15:82766857-82767150	GM12878	blood:	n/a	n/a
8	EP300	chr15:82765932-82766371	GM12878	blood:	n/a	n/a
9	FOSL2	chr15:82767506-82767755	HepG2	liver:	n/a	chr15:82767629-82767641 chr15:82767629-82767640 chr15:82767631-82767639 chr15:82767631-82767639 chr15:82767627-82767638 chr15:82767632-82767639
10	FOSL2	chr15:82764698-82766456	HepG2	liver:	n/a	chr15:82765270-82765281 chr15:82765254-82765263
11	FOSL2	chr15:82769040-82769477	HepG2	liver:	n/a	n/a
12	FOSL2	chr15:82766910-82767244	HepG2	liver:	n/a	n/a
13	GABPA	chr15:82767827-82768027	Hela-S3	cervix:	n/a	n/a
14	HEY1	chr15:82767024-82767414	K562	blood:	n/a	chr15:82767263-82767278
15	HEY1	chr15:82764846-82766073	K562	blood:	n/a	n/a
16	JUND	chr15:82769140-82769315	HepG2	liver:	n/a	n/a
17	JUND	chr15:82769116-82769281	HepG2	liver:	n/a	n/a
18	PAX5	chr15:82767122-82767369	GM12878	blood:	n/a	n/a
19	PAX5	chr15:82767184-82767410	GM12878	blood:	n/a	chr15:82767384-82767393
20	POLR2A	chr15:82764900-82765986	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr15:82766862-82767807	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr15:82766819-82767435	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr15:82768166-82768830	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr15:82766841-82767377	A549	lung:	n/a	n/a
25	POLR2A	chr15:82768968-82769366	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr15:82769732-82770030	GM12878	blood:	n/a	n/a
27	POLR2A	chr15:82755048-82766675	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr15:82768842-82769060	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr15:82768294-82769359	A549	lung:	n/a	n/a
30	POLR2A	chr15:82764708-82767474	GM12878	blood:	n/a	n/a
31	POLR2A	chr15:82766930-82767162	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr15:82769165-82769623	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr15:82766845-82767157	A549	lung:	n/a	n/a
34	POLR2A	chr15:82765802-82766440	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr15:82766796-82768111	A549	lung:	n/a	n/a
36	POLR2A	chr15:82767911-82768044	A549	lung:	n/a	n/a
37	POLR2A	chr15:82766803-82767324	GM12878	blood:	n/a	n/a
38	POLR2A	chr15:82767806-82768096	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr15:82766132-82766446	GM12878	blood:	n/a	n/a
40	POLR2A	chr15:82768574-82768811	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr15:82767616-82768137	GM12878	blood:	n/a	n/a
42	POLR2A	chr15:82767054-82767284	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr15:82768311-82768611	GM12878	blood:	n/a	n/a
44	POLR2A	chr15:82766826-82767394	A549	lung:	n/a	n/a
45	POLR2A	chr15:82768357-82768848	H1-hESC	embryonic stem cell:	n/a	n/a
46	POU2F2	chr15:82769782-82770193	GM12878	blood:	n/a	n/a
47	POU2F2	chr15:82767029-82767378	GM12878	blood:	n/a	chr15:82767260-82767272
48	REST	chr15:82766821-82767353	PANC-1	pancreas:	n/a	chr15:82767259-82767272 chr15:82767064-82767077 chr15:82767268-82767281
49	SIX5	chr15:82769835-82770058	K562	blood:	n/a	n/a
50	SPI1	chr15:82766501-82766784	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000221095	TF binding region

Extended variants
information (count: 2 )
Associated
traits (count: 70 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62011829	chr15:82769516-82769517	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs62011830	chr15:82769801-82769802	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Autism	21480499	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16774939	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Congenital diaphragmatic hernia	20921022	CNVD
abnormal development	18461090	CNVD
Intellectual disability	22102821	CNVD
renal disease	17924346	CNVD
Breast cancer	20409316	CNVD
Mental retardation	17847001	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	20967226	CNVD
Williams Syndrome	20824207	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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