Variant report

Variant	esv3439203
Chromosome Location	chr15:83097322-83099870
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	EBF1	chr15:83098530-83098919	GM12878	blood:	n/a	n/a
2	EBF1	chr15:83099252-83099550	GM12878	blood:	n/a	chr15:83099436-83099446 chr15:83099437-83099446
3	EBF1	chr15:83099246-83099497	GM12878	blood:	n/a	chr15:83099436-83099446 chr15:83099437-83099446
4	EBF1	chr15:83098610-83098826	GM12878	blood:	n/a	n/a
5	FOSL2	chr15:83098561-83098849	HepG2	liver:	n/a	n/a
6	FOSL2	chr15:83099108-83099585	HepG2	liver:	n/a	chr15:83099460-83099469
7	GABPA	chr15:83099255-83099416	Hela-S3	cervix:	n/a	n/a
8	GABPA	chr15:83098663-83098780	Hela-S3	cervix:	n/a	n/a
9	GABPA	chr15:83099096-83099496	Hela-S3	cervix:	n/a	n/a
10	HEY1	chr15:83098644-83098871	HepG2	liver:	n/a	n/a
11	JUND	chr15:83099237-83099554	HepG2	liver:	n/a	chr15:83099460-83099469
12	JUND	chr15:83098646-83098778	HepG2	liver:	n/a	n/a
13	JUND	chr15:83099187-83099312	HepG2	liver:	n/a	n/a
14	PAX5	chr15:83098952-83099594	GM12878	blood:	n/a	n/a
15	PAX5	chr15:83098550-83098883	GM12878	blood:	n/a	chr15:83098635-83098654
16	PAX5	chr15:83098561-83098804	GM12878	blood:	n/a	chr15:83098635-83098654
17	PBX3	chr15:83099001-83099123	GM12878	blood:	n/a	n/a
18	POLR2A	chr15:83098574-83098947	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr15:83098496-83098890	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr15:83098447-83100037	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr15:83098615-83098886	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr15:83098511-83099203	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr15:83098514-83098870	GM12878	blood:	n/a	n/a
24	POU2F2	chr15:83098536-83098983	GM12878	blood:	n/a	n/a
25	POU2F2	chr15:83098989-83099787	GM12878	blood:	n/a	n/a
26	SIN3AK20	chr15:83099303-83099443	HepG2	liver:	n/a	n/a
27	SIN3AK20	chr15:83098646-83098782	HepG2	liver:	n/a	n/a
28	SIX5	chr15:83098577-83098855	K562	blood:	n/a	n/a
29	SP1	chr15:83098467-83098871	GM12878	blood:	n/a	chr15:83098637-83098647 chr15:83098518-83098530 chr15:83098519-83098533 chr15:83098694-83098704 chr15:83098519-83098528 chr15:83098564-83098573 chr15:83098520-83098529 chr15:83098668-83098689 chr15:83098694-83098704 chr15:83098563-83098575 chr15:83098518-83098530
30	SP1	chr15:83098449-83098821	GM12878	blood:	n/a	chr15:83098637-83098647 chr15:83098518-83098530 chr15:83098519-83098533 chr15:83098694-83098704 chr15:83098519-83098528 chr15:83098564-83098573 chr15:83098520-83098529 chr15:83098668-83098689 chr15:83098694-83098704 chr15:83098563-83098575 chr15:83098518-83098530
31	SP1	chr15:83098564-83098875	HepG2	liver:	n/a	chr15:83098637-83098647 chr15:83098694-83098704 chr15:83098564-83098573 chr15:83098668-83098689 chr15:83098694-83098704
32	SP1	chr15:83099205-83099487	HepG2	liver:	n/a	chr15:83099433-83099442 chr15:83099384-83099398
33	SPI1	chr15:83099509-83099750	GM12878	blood:	n/a	n/a
34	SPI1	chr15:83099245-83099452	GM12878	blood:	n/a	n/a
35	SPI1	chr15:83098632-83098814	K562	blood:	n/a	n/a
36	SPI1	chr15:83099618-83099778	K562	blood:	n/a	n/a
37	TAF1	chr15:83098634-83098881	Hela-S3	cervix:	n/a	n/a
38	TAF1	chr15:83098468-83099009	H1-hESC	embryonic stem cell:	n/a	n/a
39	TAF1	chr15:83098640-83098831	GM12892	blood:	n/a	n/a
40	TAF1	chr15:83098578-83098944	H1-hESC	embryonic stem cell:	n/a	n/a
41	TCF12	chr15:83098573-83098848	GM12878	blood:	n/a	n/a
42	TCF3	chr15:83099018-83099566	GM12878	blood:	n/a	n/a
43	USF1	chr15:83098640-83098753	HepG2	liver:	n/a	n/a
44	ZBTB33	chr15:83099023-83099412	K562	blood:	n/a	n/a
45	ZBTB33	chr15:83098608-83098871	K562	blood:	n/a	n/a
46	ZBTB33	chr15:83098961-83099352	GM12878	blood:	n/a	n/a
47	ZBTB33	chr15:83099091-83099414	K562	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-152F13.5.1-1	chr15:83098748-83098893	NONHSAT047821

Variant related genes	Relation type
GOLGA6L20	TF binding region

Extended variants
information (count: 1 )
Associated
traits (count: 65 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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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