Variant report

Variant	esv1847895
Chromosome Location	chr15:83060123-83097713
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	chr15:83094172-83094396	GM12878	blood:	n/a	n/a
2	CTCF	chr15:83083063-83083162	GM20000	blood:	n/a	n/a
3	CTCF	chr15:83096854-83096986	Lung_OC	lung:	n/a	n/a
4	CTCF	chr15:83074213-83074302	GM13977	blood:	n/a	n/a
5	CTCF	chr15:83093745-83093832	GM20000	blood:	n/a	n/a
6	CTCF	chr15:83081960-83082016	GM20000	blood:	n/a	n/a
7	CTCF	chr15:83067547-83067623	GM13976	blood:	n/a	n/a
8	CTCF	chr15:83061510-83061536	Lung_OC	lung:	n/a	n/a
9	CTCF	chr15:83082595-83082699	Pancreas_OC	pancreas:	n/a	n/a
10	CTCF	chr15:83081547-83081619	GM10248	blood:	n/a	n/a
11	CTCF	chr15:83084916-83084955	Medullo	brain:	n/a	n/a
12	FOSL2	chr15:83089603-83089988	HepG2	liver:	n/a	chr15:83089853-83089863 chr15:83089853-83089864 chr15:83089853-83089863 chr15:83089854-83089863 chr15:83089853-83089863 chr15:83089853-83089863
13	FOSL2	chr15:83089605-83090099	HepG2	liver:	n/a	chr15:83089853-83089863 chr15:83089853-83089864 chr15:83089853-83089863 chr15:83089854-83089863 chr15:83089853-83089863 chr15:83089853-83089863
14	FOSL2	chr15:83083594-83083801	HepG2	liver:	n/a	n/a
15	FOXA1	chr15:83066606-83066952	HepG2	liver:	n/a	n/a
16	FOXA1	chr15:83070632-83071052	HepG2	liver:	n/a	n/a
17	FOXA1	chr15:83071132-83071491	HepG2	liver:	n/a	n/a
18	FOXA1	chr15:83083425-83084017	HepG2	liver:	n/a	n/a
19	FOXA2	chr15:83083497-83084027	A549	lung:	n/a	n/a
20	GABPA	chr15:83089649-83090031	Hela-S3	cervix:	n/a	n/a
21	GATA2	chr15:83089604-83090021	K562	blood:	n/a	chr15:83089847-83089857
22	GATA2	chr15:83080370-83080731	K562	blood:	n/a	n/a
23	HEY1	chr15:83089275-83089579	K562	blood:	n/a	n/a
24	HEY1	chr15:83083395-83083733	HepG2	liver:	n/a	n/a
25	JUND	chr15:83089673-83090008	HepG2	liver:	n/a	chr15:83089853-83089863 chr15:83089853-83089863 chr15:83089854-83089863 chr15:83089853-83089863 chr15:83089853-83089863
26	JUND	chr15:83070793-83070921	HepG2	liver:	n/a	n/a
27	JUND	chr15:83070763-83071025	HepG2	liver:	n/a	n/a
28	JUND	chr15:83089727-83089955	HepG2	liver:	n/a	chr15:83089853-83089863 chr15:83089853-83089863 chr15:83089854-83089863 chr15:83089853-83089863 chr15:83089853-83089863
29	MAFF	chr15:83067199-83067387	K562	blood:	n/a	n/a
30	NR3C1	chr15:83064761-83065082	ECC-1	luminal epithelium:	n/a	n/a
31	PAX5	chr15:83064786-83065012	GM12878	blood:	n/a	n/a
32	PAX5	chr15:83061848-83062120	GM12878	blood:	n/a	n/a
33	PAX5	chr15:83064787-83065046	GM12878	blood:	n/a	n/a
34	PAX5	chr15:83061809-83062228	GM12878	blood:	n/a	n/a
35	PBX3	chr15:83081432-83081520	GM12878	blood:	n/a	n/a
36	POLR2A	chr15:83084150-83084370	ProgFib	skin:	n/a	n/a
37	POLR2A	chr15:83089321-83090017	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr15:83075401-83075569	ProgFib	skin:	n/a	n/a
39	POLR2A	chr15:83062550-83062553	Gliobla	brain:	n/a	n/a
40	POLR2A	chr15:83091982-83092086	K562	blood:	n/a	n/a
41	POLR2A	chr15:83089313-83090066	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr15:83079757-83079759	K562	blood:	n/a	n/a
43	POLR2A	chr15:83089679-83089981	SK-N-SH	brain:	n/a	n/a
44	REST	chr15:83093458-83093612	PFSK-1	brain:	n/a	chr15:83093531-83093539 chr15:83093521-83093541 chr15:83093527-83093541 chr15:83093521-83093541
45	RXRA	chr15:83071094-83071432	HepG2	liver:	n/a	chr15:83071265-83071278 chr15:83071266-83071277 chr15:83071265-83071278
46	RXRA	chr15:83066635-83066851	HepG2	liver:	n/a	n/a
47	RXRA	chr15:83071097-83071494	HepG2	liver:	n/a	chr15:83071265-83071278 chr15:83071266-83071277 chr15:83071265-83071278
48	RXRA	chr15:83070722-83071064	HepG2	liver:	n/a	n/a
49	RXRA	chr15:83083513-83083842	HepG2	liver:	n/a	n/a
50	SIN3AK20	chr15:83070794-83070899	HepG2	liver:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-152F13.5.1-1	chr15:83088098-83088121	NONHSAT047819
2	lnc-RP11-152F13.5.1-1	chr15:83087366-83087522	NONHSAT047819
3	lnc-RP11-152F13.5.1-1	chr15:83087938-83087977	NONHSAT047819
4	lnc-RP11-152F13.5.1-1	chr15:83084257-83084405	NONHSAT047819
5	lnc-RP11-152F13.5.1-1	chr15:83088710-83088805	ENSG00000259310.1
6	lnc-RP11-152F13.5.1-1	chr15:83083411-83083534	NONHSAT140250
7	lnc-RP11-152F13.5.1-1	chr15:83087381-83087522	ENSG00000259310.1
8	lnc-RP11-152F13.5.1-1	chr15:83084258-83084733	NONHSAT140250

Variant related genes	Relation type
ENSG00000259310	TF binding region
UBE2Q2P3	TF binding region
GOLGA6L20	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376201646	chr15:83081476-83081477	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs201511010	chr15:83081482-83081483	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs374864765	chr15:83081503-83081504	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs369802972	chr15:83081517-83081518	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs148343664	chr15:83083950-83083951	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
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
Breast cancer	21364760	CNVD
Epilepsy	20502679	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	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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