Variant report

Variant	esv3521494
Chromosome Location	chr15:83038997-83162795
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1271)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:16)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1271 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr15:83104579-83104871	GM12878	blood:	n/a	n/a
2	BATF	chr15:83115167-83115390	GM12878	blood:	n/a	n/a
3	BATF	chr15:83153717-83153951	GM12878	blood:	n/a	n/a
4	BATF	chr15:83113531-83113733	GM12878	blood:	n/a	n/a
5	BATF	chr15:83122080-83122266	GM12878	blood:	n/a	n/a
6	BATF	chr15:83050255-83050468	GM12878	blood:	n/a	n/a
7	BATF	chr15:83108862-83109197	GM12878	blood:	n/a	n/a
8	BATF	chr15:83094172-83094396	GM12878	blood:	n/a	n/a
9	BATF	chr15:83050183-83050497	GM12878	blood:	n/a	n/a
10	BATF	chr15:83113516-83113715	GM12878	blood:	n/a	n/a
11	BATF	chr15:83113978-83114251	GM12878	blood:	n/a	n/a
12	BATF	chr15:83136935-83137253	GM12878	blood:	n/a	n/a
13	BATF	chr15:83122856-83123072	GM12878	blood:	n/a	n/a
14	BATF	chr15:83104587-83104871	GM12878	blood:	n/a	n/a
15	BATF	chr15:83129049-83129439	GM12878	blood:	n/a	n/a
16	BCL11A	chr15:83050219-83050618	GM12878	blood:	n/a	n/a
17	BCL11A	chr15:83128543-83128904	GM12878	blood:	n/a	n/a
18	BCL11A	chr15:83108218-83108431	GM12878	blood:	n/a	n/a
19	BCL11A	chr15:83050299-83050556	GM12878	blood:	n/a	n/a
20	BCL11A	chr15:83129068-83129362	GM12878	blood:	n/a	n/a
21	BCL11A	chr15:83129739-83129971	GM12878	blood:	n/a	chr15:83129920-83129929
22	BCL11A	chr15:83113517-83113747	GM12878	blood:	n/a	n/a
23	BCL11A	chr15:83104863-83105033	GM12878	blood:	n/a	n/a
24	BCL11A	chr15:83154469-83154805	GM12878	blood:	n/a	n/a
25	BCL11A	chr15:83113647-83113954	GM12878	blood:	n/a	chr15:83113894-83113903
26	BCL11A	chr15:83104588-83104773	GM12878	blood:	n/a	n/a
27	BCL11A	chr15:83114793-83114982	GM12878	blood:	n/a	n/a
28	BCL11A	chr15:83129019-83129431	GM12878	blood:	n/a	n/a
29	BCL11A	chr15:83113949-83114261	GM12878	blood:	n/a	chr15:83114141-83114149 chr15:83113997-83114010
30	BCL11A	chr15:83104494-83104841	GM12878	blood:	n/a	n/a
31	BCL11A	chr15:83151592-83151857	GM12878	blood:	n/a	chr15:83151756-83151765
32	BCL11A	chr15:83123576-83123787	GM12878	blood:	n/a	n/a
33	BCL11A	chr15:83129636-83129919	GM12878	blood:	n/a	n/a
34	BCL11A	chr15:83113984-83114420	GM12878	blood:	n/a	chr15:83114141-83114149 chr15:83113997-83114010
35	BCL11A	chr15:83136938-83137277	GM12878	blood:	n/a	n/a
36	BHLHE40	chr15:83137084-83137330	HepG2	liver:	n/a	n/a
37	BHLHE40	chr15:83104587-83104854	HepG2	liver:	n/a	n/a
38	BHLHE40	chr15:83115466-83115741	HepG2	liver:	n/a	n/a
39	CBX3	chr15:83109374-83109786	K562	blood:	n/a	n/a
40	CBX3	chr15:83124821-83125716	K562	blood:	n/a	n/a
41	CBX3	chr15:83128920-83129611	K562	blood:	n/a	n/a
42	CBX3	chr15:83129020-83129485	K562	blood:	n/a	n/a
43	CBX3	chr15:83113606-83114301	K562	blood:	n/a	n/a
44	CBX3	chr15:83108780-83109367	K562	blood:	n/a	n/a
45	CBX3	chr15:83108830-83109087	K562	blood:	n/a	n/a
46	CBX3	chr15:83114397-83114759	K562	blood:	n/a	n/a
47	CEBPD	chr15:83058053-83058433	K562	blood:	n/a	n/a
48	CEBPD	chr15:83125892-83126471	K562	blood:	n/a	n/a
49	CTCF	chr15:83083063-83083162	GM20000	blood:	n/a	n/a
50	CTCF	chr15:83109125-83109357	Gliobla	brain:	n/a	chr15:83109225-83109234

No data

(count:16 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RPS17L-1	chr15:83146764-83147043	NONHSAT047830
2	lnc-RP11-152F13.5.1-1	chr15:83084258-83084733	NONHSAT140250
3	lnc-RP11-152F13.5.1-1	chr15:83098748-83098893	NONHSAT047821
4	lnc-RP11-152F13.5.1-1	chr15:83101302-83101357	ENSG00000259310.1
5	lnc-RP11-152F13.5.1-1	chr15:83102759-83102960	ENSG00000259310.1
6	lnc-RP11-152F13.5.1-1	chr15:83088710-83088805	ENSG00000259310.1
7	lnc-RP11-152F13.5.1-1	chr15:83083411-83083534	NONHSAT140250
8	lnc-RP11-152F13.5.1-1	chr15:83102288-83102375	ENSG00000259310.1
9	lnc-RP11-152F13.5.1-1	chr15:83088098-83088121	NONHSAT047819
10	lnc-RP11-152F13.5.1-1	chr15:83084257-83084405	NONHSAT047819
11	lnc-RP11-152F13.5.1-1	chr15:83087938-83087977	NONHSAT047819
12	lnc-RP11-152F13.5.1-1	chr15:83087366-83087522	NONHSAT047819
13	lnc-RP11-152F13.5.1-1	chr15:83101543-83101623	ENSG00000259310.1
14	lnc-RP11-152F13.5.1-1	chr15:83100556-83100675	ENSG00000259310.1
15	lnc-RP11-152F13.5.1-1	chr15:83100556-83100943	NONHSAT047821
16	lnc-RP11-152F13.5.1-1	chr15:83087381-83087522	ENSG00000259310.1

No data

Variant related genes	Relation type
RPL9P8	TF binding region
CSPG4P10	TF binding region
ENSG00000221517	TF binding region
ENSG00000259310	TF binding region
UBE2Q2P3	TF binding region
RN7SL410P	TF binding region
ENSG00000259472	TF binding region
GOLGA6L20	TF binding region

Extended variants
information (count: 33 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544173945	chr15:83041802-83041803	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs563262495	chr15:83041846-83041847	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs556219695	chr15:83041872-83041873	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs191238617	chr15:83041887-83041888	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs572469560	chr15:83043763-83043764	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs368473288	chr15:83044253-83044254	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs575125277	chr15:83044292-83044293	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs557714236	chr15:83044825-83044826	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs547666237	chr15:83044831-83044832	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs567736057	chr15:83044842-83044843	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs577487502	chr15:83045078-83045079	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs531578682	chr15:83045081-83045082	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs201144462	chr15:83045141-83045142	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs559093762	chr15:83045146-83045147	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs573920041	chr15:83057046-83057047	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs542925442	chr15:83057106-83057107	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs377641505	chr15:83057217-83057218	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs202013708	chr15:83057244-83057245	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs113479046	chr15:83058475-83058476	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs376201646	chr15:83081476-83081477	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs201511010	chr15:83081482-83081483	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs374864765	chr15:83081503-83081504	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs369802972	chr15:83081517-83081518	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs148343664	chr15:83083950-83083951	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
25	rs368448598	chr15:83098608-83098609	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs565924062	chr15:83124430-83124431	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs200696888	chr15:83124449-83124450	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs372532251	chr15:83124477-83124478	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs553743278	chr15:83124512-83124513	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs58374997	chr15:83124573-83124574	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs200907280	chr15:83126115-83126116	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
32	rs145104912	chr15:83126158-83126159	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
33	rs139440155	chr15:83126169-83126170	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

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	21293372	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Renal cell carcinoma	21215367	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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