Variant report

Variant	nsv984055
Chromosome Location	chr15:40772608-40777252
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	CCNT2	chr15:40776291-40776461	K562	blood:	n/a	n/a
2	CEBPB	chr15:40772830-40772838	K562	blood:	n/a	n/a
3	CEBPB	chr15:40773967-40773980	A549	lung:	n/a	n/a
4	CEBPB	chr15:40772789-40772959	IMR90	lung:	n/a	chr15:40772869-40772880
5	CTCF	chr15:40774860-40775010	BE2_C	brain:	n/a	n/a
6	EP300	chr15:40776212-40776352	K562	blood:	n/a	n/a
7	FOS	chr15:40773973-40774142	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr15:40774228-40774368	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr15:40774156-40774373	MCF10A-Er-Src	breast:	n/a	n/a
10	GATA2	chr15:40776138-40776504	SH-SY5Y	brain:	n/a	n/a
11	GATA3	chr15:40776036-40776473	MCF-7	breast:	n/a	n/a
12	GATA3	chr15:40776154-40776403	T-47D	breast:	n/a	n/a
13	GATA3	chr15:40776071-40776471	MCF-7	breast:	n/a	n/a
14	GATA3	chr15:40776176-40776374	SH-SY5Y	brain:	n/a	n/a
15	MAZ	chr15:40774523-40774688	HepG2	liver:	n/a	n/a
16	MYC	chr15:40774004-40774330	MCF10A-Er-Src	breast:	n/a	n/a
17	RCOR1	chr15:40776282-40776301	K562	blood:	n/a	n/a
18	STAT3	chr15:40773948-40774084	MCF10A-Er-Src	breast:	n/a	n/a
19	ZNF384	chr15:40776279-40776321	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:40768824..40772599-chr15:40776981..40779621,3	K562	blood:
2	chr15:40765795..40768318-chr15:40771145..40773484,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259536	TF binding region
ENSG00000244251	TF binding region

Extended variants
information (count: 95 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549076686	chr15:40772624-40772625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs145508924	chr15:40772631-40772632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs534288604	chr15:40772663-40772664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs182318881	chr15:40772680-40772681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs577815019	chr15:40772742-40772743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs536858368	chr15:40772818-40772819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs78716773	chr15:40772847-40772848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs566842694	chr15:40772878-40772879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs574574646	chr15:40772908-40772909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs556780199	chr15:40772946-40772947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs573498376	chr15:40772959-40772960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs542743663	chr15:40773005-40773006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs138123873	chr15:40773017-40773018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs200052011	chr15:40773040-40773041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs573207753	chr15:40773085-40773086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs545049221	chr15:40773111-40773112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs565579744	chr15:40773133-40773134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs142701435	chr15:40773142-40773143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs145995859	chr15:40773143-40773144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs623187	chr15:40773187-40773188	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs138607058	chr15:40773247-40773248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs549115267	chr15:40773284-40773285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs565609695	chr15:40773338-40773339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs386783344	chr15:40773350-40773351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs57149276	chr15:40773351-40773352	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs371920421	chr15:40773355-40773356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs535286567	chr15:40773390-40773391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs113875501	chr15:40773442-40773443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs536996628	chr15:40773450-40773451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs57729323	chr15:40773457-40773458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs111435634	chr15:40773473-40773474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs556817387	chr15:40773475-40773476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs573536942	chr15:40773495-40773496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs557055818	chr15:40773541-40773542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs536007999	chr15:40773594-40773595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs35176385	chr15:40773602-40773603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs553456050	chr15:40773611-40773612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs573213225	chr15:40773636-40773637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs138469496	chr15:40773649-40773650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs549331390	chr15:40773665-40773666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs545471589	chr15:40773684-40773685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs565178410	chr15:40773732-40773733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs112255371	chr15:40773787-40773788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs374413051	chr15:40773792-40773793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs575685774	chr15:40773807-40773808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs544954035	chr15:40773815-40773816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs149581831	chr15:40773977-40773978	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs530339823	chr15:40773978-40773979	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs144295386	chr15:40774015-40774016	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs574977596	chr15:40774109-40774110	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
HDAC8	0	CNVD
NIPBL	0	CNVD
RAD21	0	CNVD
SMC1A	0	CNVD
SMC3	0	CNVD
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Angelman syndrome	16183798	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Testicular germ cell tumor	18059402	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
Colorectal cancer	16774939	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
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17053054	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Cancer	21129771	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21045282	CNVD
Breast cancer	22032731	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40765000-40773400	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr15:40770800-40774400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr15:40771400-40774800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr15:40773400-40774200	Enhancers	Cortex derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links