Variant report

Variant	esv10126
Chromosome Location	chr15:83177633-83186148
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	chr15:83182516-83183551	GM12878	blood:	n/a	n/a
2	BATF	chr15:83181094-83181867	GM12878	blood:	n/a	n/a
3	BATF	chr15:83180859-83181072	GM12878	blood:	n/a	n/a
4	BATF	chr15:83181297-83181619	GM12878	blood:	n/a	n/a
5	BATF	chr15:83182960-83183552	GM12878	blood:	n/a	n/a
6	BATF	chr15:83182024-83182278	GM12878	blood:	n/a	n/a
7	BCL11A	chr15:83182491-83183483	GM12878	blood:	n/a	chr15:83182682-83182690
8	BCL11A	chr15:83180872-83181314	GM12878	blood:	n/a	n/a
9	BCL11A	chr15:83181264-83181632	GM12878	blood:	n/a	chr15:83181408-83181417
10	BCL11A	chr15:83181992-83182357	GM12878	blood:	n/a	chr15:83182244-83182257
11	BCL11A	chr15:83181340-83181641	GM12878	blood:	n/a	chr15:83181408-83181417
12	BCL11A	chr15:83182586-83183616	GM12878	blood:	n/a	chr15:83182682-83182690
13	BCL11A	chr15:83180870-83181260	GM12878	blood:	n/a	n/a
14	BHLHE40	chr15:83182634-83183177	HepG2	liver:	n/a	chr15:83182648-83182664
15	CBX3	chr15:83182641-83183089	K562	blood:	n/a	n/a
16	CTCF	chr15:83182663-83183175	K562	blood:	n/a	n/a
17	CTCF	chr15:83182492-83183523	A549	lung:	n/a	n/a
18	CTCF	chr15:83182801-83183077	K562	blood:	n/a	n/a
19	CTCF	chr15:83185045-83185116	Kidney_OC	kidney:	n/a	n/a
20	CTCF	chr15:83184946-83185001	Spleen_OC	spleen:	n/a	n/a
21	EBF1	chr15:83181943-83183571	GM12878	blood:	n/a	chr15:83182256-83182265
22	EBF1	chr15:83182590-83183583	GM12878	blood:	n/a	n/a
23	EBF1	chr15:83181320-83181663	GM12878	blood:	n/a	n/a
24	EBF1	chr15:83180789-83181060	GM12878	blood:	n/a	n/a
25	EBF1	chr15:83180656-83181218	GM12878	blood:	n/a	n/a
26	EBF1	chr15:83181319-83181716	GM12878	blood:	n/a	n/a
27	EBF1	chr15:83181962-83182353	GM12878	blood:	n/a	chr15:83182256-83182265
28	EP300	chr15:83181726-83181887	GM12878	blood:	n/a	n/a
29	EP300	chr15:83181909-83182359	GM12878	blood:	n/a	chr15:83182151-83182160 chr15:83182144-83182160 chr15:83182115-83182124 chr15:83182154-83182163 chr15:83182236-83182252
30	EP300	chr15:83182606-83182776	GM12878	blood:	n/a	n/a
31	EP300	chr15:83182477-83183563	GM12878	blood:	n/a	chr15:83182543-83182559 chr15:83182539-83182555
32	EP300	chr15:83178406-83178764	GM12878	blood:	n/a	n/a
33	EP300	chr15:83182948-83183430	GM12878	blood:	n/a	n/a
34	FOSL2	chr15:83177830-83178208	HepG2	liver:	n/a	n/a
35	FOSL2	chr15:83180829-83181218	HepG2	liver:	n/a	n/a
36	FOSL2	chr15:83181286-83181783	HepG2	liver:	n/a	n/a
37	FOSL2	chr15:83181966-83183568	HepG2	liver:	n/a	chr15:83182492-83182501 chr15:83182248-83182257
38	FOSL2	chr15:83180824-83181736	HepG2	liver:	n/a	n/a
39	FOSL2	chr15:83182726-83183547	HepG2	liver:	n/a	n/a
40	FOXA1	chr15:83182637-83183500	HepG2	liver:	n/a	n/a
41	FOXA1	chr15:83182033-83182356	HepG2	liver:	n/a	n/a
42	FOXA2	chr15:83182416-83183354	A549	lung:	n/a	n/a
43	FOXP2	chr15:83182812-83183090	PFSK-1	brain:	n/a	n/a
44	GABPA	chr15:83182334-83182428	Hela-S3	cervix:	n/a	n/a
45	GABPA	chr15:83181386-83181822	Hela-S3	cervix:	n/a	n/a
46	GABPA	chr15:83179642-83179862	Hela-S3	cervix:	n/a	n/a
47	GABPA	chr15:83180540-83181191	Hela-S3	cervix:	n/a	n/a
48	GABPA	chr15:83182006-83182221	Hela-S3	cervix:	n/a	chr15:83182115-83182124 chr15:83182151-83182160
49	GABPA	chr15:83184748-83185011	Hela-S3	cervix:	n/a	n/a
50	GABPA	chr15:83181961-83183605	Hela-S3	cervix:	n/a	chr15:83182115-83182124 chr15:83182151-83182160

Variant related genes	Relation type
GOLGA6L21P	TF binding region
ENSG00000259472	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373657919	chr15:83183745-83183746	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
2	rs375516779	chr15:83183751-83183752	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs540013291	chr15:83183965-83183966	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
4	rs561536758	chr15:83183972-83183973	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs551793667	chr15:83183983-83183984	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs185018922	chr15:83183986-83183987	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs544476447	chr15:83183988-83183989	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs373364364	chr15:83184050-83184051	Inactive region	TF binding region	2 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
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	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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