Variant report

Variant	esv1796185
Chromosome Location	chr15:83074652-83112591
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	BATF	chr15:83104587-83104871	GM12878	blood:	n/a	n/a
3	BATF	chr15:83108862-83109197	GM12878	blood:	n/a	n/a
4	BATF	chr15:83104579-83104871	GM12878	blood:	n/a	n/a
5	BCL11A	chr15:83104494-83104841	GM12878	blood:	n/a	n/a
6	BCL11A	chr15:83104588-83104773	GM12878	blood:	n/a	n/a
7	BCL11A	chr15:83104863-83105033	GM12878	blood:	n/a	n/a
8	BCL11A	chr15:83108218-83108431	GM12878	blood:	n/a	n/a
9	BHLHE40	chr15:83104587-83104854	HepG2	liver:	n/a	n/a
10	CBX3	chr15:83108780-83109367	K562	blood:	n/a	n/a
11	CBX3	chr15:83108830-83109087	K562	blood:	n/a	n/a
12	CBX3	chr15:83109374-83109786	K562	blood:	n/a	n/a
13	CTCF	chr15:83108921-83109012	Pancreas_OC	pancreas:	n/a	chr15:83108960-83108978 chr15:83108966-83108975 chr15:83108955-83108976 chr15:83108961-83108977
14	CTCF	chr15:83109194-83109297	Kidney_OC	kidney:	n/a	chr15:83109225-83109234
15	CTCF	chr15:83108772-83109389	A549	lung:	n/a	chr15:83108960-83108978 chr15:83109225-83109234 chr15:83108966-83108975 chr15:83108955-83108976 chr15:83108961-83108977
16	CTCF	chr15:83108962-83108988	MCF-7	breast:	n/a	chr15:83108966-83108975
17	CTCF	chr15:83108895-83109022	K562	blood:	n/a	chr15:83108960-83108978 chr15:83108966-83108975 chr15:83108955-83108976 chr15:83108961-83108977
18	CTCF	chr15:83109121-83109347	GM12891	blood:	n/a	chr15:83109225-83109234
19	CTCF	chr15:83108877-83109038	Gliobla	brain:	n/a	chr15:83108960-83108978 chr15:83108966-83108975 chr15:83108955-83108976 chr15:83108961-83108977
20	CTCF	chr15:83104393-83105082	K562	blood:	n/a	n/a
21	CTCF	chr15:83108881-83109018	HepG2	liver:	n/a	chr15:83108960-83108978 chr15:83108966-83108975 chr15:83108955-83108976 chr15:83108961-83108977
22	CTCF	chr15:83109130-83109313	GM13977	blood:	n/a	chr15:83109225-83109234
23	CTCF	chr15:83108891-83109080	GM12891	blood:	n/a	chr15:83108960-83108978 chr15:83108966-83108975 chr15:83108955-83108976 chr15:83108961-83108977
24	CTCF	chr15:83104337-83105013	A549	lung:	n/a	n/a
25	CTCF	chr15:83081547-83081619	GM10248	blood:	n/a	n/a
26	CTCF	chr15:83109172-83109307	Pancreas_OC	pancreas:	n/a	chr15:83109225-83109234
27	CTCF	chr15:83109145-83109305	MCF-7	breast:	n/a	chr15:83109225-83109234
28	CTCF	chr15:83108734-83109402	A549	lung:	n/a	chr15:83108960-83108978 chr15:83109225-83109234 chr15:83108966-83108975 chr15:83108955-83108976 chr15:83108961-83108977
29	CTCF	chr15:83109617-83109692	GM13977	blood:	n/a	n/a
30	CTCF	chr15:83108952-83108999	NHEK	skin:	n/a	chr15:83108960-83108978 chr15:83108966-83108975 chr15:83108955-83108976 chr15:83108961-83108977
31	CTCF	chr15:83083063-83083162	GM20000	blood:	n/a	n/a
32	CTCF	chr15:83108774-83109404	K562	blood:	n/a	chr15:83108960-83108978 chr15:83109225-83109234 chr15:83108966-83108975 chr15:83108955-83108976 chr15:83109386-83109404 chr15:83108961-83108977
33	CTCF	chr15:83108946-83109094	A549	lung:	n/a	chr15:83108960-83108978 chr15:83108966-83108975 chr15:83108955-83108976 chr15:83108961-83108977
34	CTCF	chr15:83108957-83108996	MCF-7	breast:	n/a	chr15:83108960-83108978 chr15:83108966-83108975 chr15:83108961-83108977
35	CTCF	chr15:83096854-83096986	Lung_OC	lung:	n/a	n/a
36	CTCF	chr15:83109208-83109283	GM13976	blood:	n/a	chr15:83109225-83109234
37	CTCF	chr15:83109215-83109310	HUVEC	blood vessel:	n/a	chr15:83109225-83109234
38	CTCF	chr15:83109217-83109317	GM19238	blood:	n/a	chr15:83109225-83109234
39	CTCF	chr15:83104403-83104844	A549	lung:	n/a	n/a
40	CTCF	chr15:83108917-83109071	H1-hESC	embryonic stem cell:	n/a	chr15:83108960-83108978 chr15:83108966-83108975 chr15:83108955-83108976 chr15:83108961-83108977
41	CTCF	chr15:83109229-83109258	GM10266	blood:	n/a	n/a
42	CTCF	chr15:83108907-83109050	MCF-7	breast:	n/a	chr15:83108960-83108978 chr15:83108966-83108975 chr15:83108955-83108976 chr15:83108961-83108977
43	CTCF	chr15:83108952-83109017	GM20000	blood:	n/a	chr15:83108960-83108978 chr15:83108966-83108975 chr15:83108955-83108976 chr15:83108961-83108977
44	CTCF	chr15:83104441-83104930	K562	blood:	n/a	n/a
45	CTCF	chr15:83084916-83084955	Medullo	brain:	n/a	n/a
46	CTCF	chr15:83109143-83109329	MCF-7	breast:	n/a	chr15:83109225-83109234
47	CTCF	chr15:83108773-83109579	K562	blood:	n/a	chr15:83109388-83109409 chr15:83108960-83108978 chr15:83109225-83109234 chr15:83108966-83108975 chr15:83108955-83108976 chr15:83109386-83109404 chr15:83108961-83108977
48	CTCF	chr15:83109157-83109315	Hela-S3	cervix:	n/a	chr15:83109225-83109234
49	CTCF	chr15:83109153-83109306	LNCaP	prostate:	n/a	chr15:83109225-83109234
50	CTCF	chr15:83109150-83109332	GM19240	blood:	n/a	chr15:83109225-83109234

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

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

Extended variants
information (count: 6 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	rs368448598	chr15:83098608-83098609	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
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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