Variant report

Variant	nsv570255
Chromosome Location	chr15:83042189-83068754
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	chr15:83050183-83050497	GM12878	blood:	n/a	n/a
2	BATF	chr15:83050255-83050468	GM12878	blood:	n/a	n/a
3	BCL11A	chr15:83050219-83050618	GM12878	blood:	n/a	n/a
4	BCL11A	chr15:83050299-83050556	GM12878	blood:	n/a	n/a
5	CEBPD	chr15:83058053-83058433	K562	blood:	n/a	n/a
6	CTCF	chr15:83048417-83048602	HUVEC	blood vessel:	n/a	n/a
7	CTCF	chr15:83048213-83048661	A549	lung:	n/a	n/a
8	CTCF	chr15:83048446-83048570	MCF-7	breast:	n/a	n/a
9	CTCF	chr15:83048417-83048595	Hela-S3	cervix:	n/a	n/a
10	CTCF	chr15:83048323-83048545	K562	blood:	n/a	n/a
11	CTCF	chr15:83067547-83067623	GM13976	blood:	n/a	n/a
12	CTCF	chr15:83048428-83048577	K562	blood:	n/a	n/a
13	CTCF	chr15:83048276-83048553	A549	lung:	n/a	n/a
14	CTCF	chr15:83048286-83048601	K562	blood:	n/a	n/a
15	CTCF	chr15:83048458-83048547	Spleen_OC	spleen:	n/a	n/a
16	CTCF	chr15:83048471-83048546	MCF-7	breast:	n/a	n/a
17	CTCF	chr15:83048239-83048779	A549	lung:	n/a	n/a
18	CTCF	chr15:83061510-83061536	Lung_OC	lung:	n/a	n/a
19	CTCF	chr15:83053418-83053466	GM20000	blood:	n/a	n/a
20	CTCF	chr15:83049689-83049742	GM13976	blood:	n/a	n/a
21	CTCF	chr15:83048322-83048580	K562	blood:	n/a	n/a
22	CTCF	chr15:83048413-83048570	HepG2	liver:	n/a	n/a
23	CTCF	chr15:83049728-83049777	Spleen_OC	spleen:	n/a	n/a
24	CTCF	chr15:83045140-83045182	GM20000	blood:	n/a	n/a
25	CTCF	chr15:83048471-83048535	Gliobla	brain:	n/a	n/a
26	CTCF	chr15:83048277-83048697	A549	lung:	n/a	n/a
27	CTCF	chr15:83048438-83048536	NHEK	skin:	n/a	n/a
28	EBF1	chr15:83053940-83054116	GM12878	blood:	n/a	n/a
29	EBF1	chr15:83050180-83050535	GM12878	blood:	n/a	n/a
30	EBF1	chr15:83050147-83050559	GM12878	blood:	n/a	n/a
31	EP300	chr15:83042286-83042543	GM12878	blood:	n/a	n/a
32	FOSL2	chr15:83042294-83042615	HepG2	liver:	n/a	n/a
33	FOXA1	chr15:83044186-83044618	HepG2	liver:	n/a	n/a
34	FOXA1	chr15:83066606-83066952	HepG2	liver:	n/a	n/a
35	GABPA	chr15:83042282-83042638	Hela-S3	cervix:	n/a	n/a
36	GABPA	chr15:83042396-83042547	Hela-S3	cervix:	n/a	n/a
37	GATA2	chr15:83043087-83043359	K562	blood:	n/a	n/a
38	GATA2	chr15:83056049-83056342	K562	blood:	n/a	chr15:83056241-83056257 chr15:83056107-83056128 chr15:83056114-83056121 chr15:83056239-83056260 chr15:83056114-83056121 chr15:83056114-83056121
39	GATA2	chr15:83042304-83042705	K562	blood:	n/a	n/a
40	GATA2	chr15:83057975-83058430	K562	blood:	n/a	n/a
41	GATA2	chr15:83044921-83045362	K562	blood:	n/a	n/a
42	GATA2	chr15:83056870-83057257	K562	blood:	n/a	chr15:83057037-83057044
43	HEY1	chr15:83050039-83050274	K562	blood:	n/a	n/a
44	IRF4	chr15:83049927-83050617	GM12878	blood:	n/a	n/a
45	IRF4	chr15:83050122-83050453	GM12878	blood:	n/a	n/a
46	MAFF	chr15:83067199-83067387	K562	blood:	n/a	n/a
47	NR2F2	chr15:83057930-83058537	K562	blood:	n/a	n/a
48	NR2F2	chr15:83058053-83058433	K562	blood:	n/a	n/a
49	NR3C1	chr15:83042676-83042918	A549	lung:	n/a	n/a
50	NR3C1	chr15:83064761-83065082	ECC-1	luminal epithelium:	n/a	n/a

Variant related genes	Relation type
RPL9P8	TF binding region
UBE2Q2P3	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572469560	chr15:83043763-83043764	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs368473288	chr15:83044253-83044254	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs575125277	chr15:83044292-83044293	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs557714236	chr15:83044825-83044826	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs547666237	chr15:83044831-83044832	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs567736057	chr15:83044842-83044843	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs577487502	chr15:83045078-83045079	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs531578682	chr15:83045081-83045082	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs201144462	chr15:83045141-83045142	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs559093762	chr15:83045146-83045147	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs573920041	chr15:83057046-83057047	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs542925442	chr15:83057106-83057107	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs377641505	chr15:83057217-83057218	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs202013708	chr15:83057244-83057245	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs113479046	chr15:83058475-83058476	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

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

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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