Variant report

Variant	esv12845
Chromosome Location	chr15:83177703-83197305
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	chr15:83181297-83181619	GM12878	blood:	n/a	n/a
2	BATF	chr15:83188292-83188489	GM12878	blood:	n/a	n/a
3	BATF	chr15:83182516-83183551	GM12878	blood:	n/a	n/a
4	BATF	chr15:83182024-83182278	GM12878	blood:	n/a	n/a
5	BATF	chr15:83180859-83181072	GM12878	blood:	n/a	n/a
6	BATF	chr15:83194660-83194952	GM12878	blood:	n/a	n/a
7	BATF	chr15:83181094-83181867	GM12878	blood:	n/a	n/a
8	BATF	chr15:83182960-83183552	GM12878	blood:	n/a	n/a
9	BATF	chr15:83194668-83194970	GM12878	blood:	n/a	n/a
10	BCL11A	chr15:83194669-83194854	GM12878	blood:	n/a	n/a
11	BCL11A	chr15:83181264-83181632	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	BCL11A	chr15:83192024-83192235	GM12878	blood:	n/a	n/a
15	BCL11A	chr15:83182491-83183483	GM12878	blood:	n/a	chr15:83182682-83182690
16	BCL11A	chr15:83181340-83181641	GM12878	blood:	n/a	chr15:83181408-83181417
17	BCL11A	chr15:83188281-83188619	GM12878	blood:	n/a	n/a
18	BCL11A	chr15:83181992-83182357	GM12878	blood:	n/a	chr15:83182244-83182257
19	BCL11A	chr15:83194575-83194922	GM12878	blood:	n/a	n/a
20	BCL11A	chr15:83180872-83181314	GM12878	blood:	n/a	n/a
21	BHLHE40	chr15:83182634-83183177	HepG2	liver:	n/a	chr15:83182648-83182664
22	BHLHE40	chr15:83194668-83194935	HepG2	liver:	n/a	n/a
23	CBX3	chr15:83182641-83183089	K562	blood:	n/a	n/a
24	CTCF	chr15:83194559-83194973	K562	blood:	n/a	chr15:83194766-83194779 chr15:83194763-83194781 chr15:83194764-83194780
25	CTCF	chr15:83182492-83183523	A549	lung:	n/a	n/a
26	CTCF	chr15:83194437-83195050	K562	blood:	n/a	chr15:83194766-83194779 chr15:83194763-83194781 chr15:83194764-83194780
27	CTCF	chr15:83194618-83194962	K562	blood:	n/a	chr15:83194766-83194779 chr15:83194763-83194781 chr15:83194764-83194780
28	CTCF	chr15:83182801-83183077	K562	blood:	n/a	n/a
29	CTCF	chr15:83185045-83185116	Kidney_OC	kidney:	n/a	n/a
30	CTCF	chr15:83184946-83185001	Spleen_OC	spleen:	n/a	n/a
31	CTCF	chr15:83182663-83183175	K562	blood:	n/a	n/a
32	CTCF	chr15:83194435-83195032	A549	lung:	n/a	chr15:83194766-83194779 chr15:83194763-83194781 chr15:83194764-83194780
33	CTCF	chr15:83194484-83194925	A549	lung:	n/a	chr15:83194766-83194779 chr15:83194763-83194781 chr15:83194764-83194780
34	CTCF	chr15:83194554-83194975	A549	lung:	n/a	chr15:83194766-83194779 chr15:83194763-83194781 chr15:83194764-83194780
35	CTCF	chr15:83194418-83195330	A549	lung:	n/a	chr15:83194766-83194779 chr15:83194763-83194781 chr15:83194764-83194780
36	EBF1	chr15:83188291-83188752	GM12878	blood:	n/a	n/a
37	EBF1	chr15:83189078-83189388	GM12878	blood:	n/a	chr15:83189269-83189278 chr15:83189268-83189278
38	EBF1	chr15:83181943-83183571	GM12878	blood:	n/a	chr15:83182256-83182265
39	EBF1	chr15:83181319-83181716	GM12878	blood:	n/a	n/a
40	EBF1	chr15:83182590-83183583	GM12878	blood:	n/a	n/a
41	EBF1	chr15:83189084-83189355	GM12878	blood:	n/a	chr15:83189269-83189278 chr15:83189268-83189278
42	EBF1	chr15:83192050-83192360	GM12878	blood:	n/a	n/a
43	EBF1	chr15:83180656-83181218	GM12878	blood:	n/a	n/a
44	EBF1	chr15:83192013-83192257	GM12878	blood:	n/a	n/a
45	EBF1	chr15:83194506-83194911	GM12878	blood:	n/a	n/a
46	EBF1	chr15:83181962-83182353	GM12878	blood:	n/a	chr15:83182256-83182265
47	EBF1	chr15:83180789-83181060	GM12878	blood:	n/a	n/a
48	EBF1	chr15:83194445-83194916	GM12878	blood:	n/a	n/a
49	EBF1	chr15:83188289-83188659	GM12878	blood:	n/a	n/a
50	EBF1	chr15:83181320-83181663	GM12878	blood:	n/a	n/a

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

Extended variants
information (count: 10 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:10 , 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
9	rs536686878	chr15:83188744-83188745	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs543245006	chr15:83189044-83189045	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
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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