Variant report

Variant	nsv962630
Chromosome Location	chr20:15535832-15538767
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	CTCF	chr20:15535920-15536070	GM12871	blood:	n/a	n/a
2	EP300	chr20:15538161-15538579	SK-N-SH_RA	brain:	n/a	n/a
3	EP300	chr20:15535911-15537224	SK-N-SH	brain:	n/a	chr20:15536981-15536991
4	EP300	chr20:15538195-15538581	SK-N-SH_RA	brain:	n/a	n/a
5	EP300	chr20:15536442-15536737	SK-N-SH_RA	brain:	n/a	n/a
6	EP300	chr20:15537652-15538844	SK-N-SH	brain:	n/a	chr20:15537710-15537719 chr20:15537860-15537874 chr20:15537687-15537696 chr20:15537859-15537873 chr20:15537688-15537697
7	EP300	chr20:15536431-15536862	SK-N-SH_RA	brain:	n/a	n/a
8	FOS	chr20:15537509-15537890	MCF10A-Er-Src	breast:	n/a	chr20:15537686-15537698 chr20:15537688-15537697 chr20:15537688-15537696 chr20:15537689-15537696 chr20:15537687-15537696
9	FOS	chr20:15537505-15537904	MCF10A-Er-Src	breast:	n/a	chr20:15537686-15537698 chr20:15537688-15537697 chr20:15537688-15537696 chr20:15537689-15537696 chr20:15537687-15537696
10	FOS	chr20:15537504-15537905	MCF10A-Er-Src	breast:	n/a	chr20:15537686-15537698 chr20:15537688-15537697 chr20:15537688-15537696 chr20:15537689-15537696 chr20:15537687-15537696
11	FOS	chr20:15537503-15537910	MCF10A-Er-Src	breast:	n/a	chr20:15537686-15537698 chr20:15537688-15537697 chr20:15537688-15537696 chr20:15537689-15537696 chr20:15537687-15537696
12	GATA2	chr20:15535716-15536865	SH-SY5Y	brain:	n/a	chr20:15536607-15536616 chr20:15535875-15535886
13	GATA2	chr20:15538147-15538626	SH-SY5Y	brain:	n/a	n/a
14	GATA3	chr20:15537133-15537332	SH-SY5Y	brain:	n/a	n/a
15	GATA3	chr20:15535733-15535987	SH-SY5Y	brain:	n/a	chr20:15535875-15535886
16	GATA3	chr20:15538285-15538454	SH-SY5Y	brain:	n/a	n/a
17	GATA3	chr20:15536429-15536811	SH-SY5Y	brain:	n/a	chr20:15536607-15536616
18	IRF3	chr20:15538576-15538598	GM12878	blood:	n/a	n/a
19	JUN	chr20:15537549-15537790	HepG2	liver:	n/a	chr20:15537686-15537698 chr20:15537688-15537697 chr20:15537688-15537696 chr20:15537689-15537696 chr20:15537687-15537696
20	JUND	chr20:15537513-15537869	HepG2	liver:	n/a	chr20:15537686-15537698 chr20:15537688-15537697 chr20:15537688-15537696 chr20:15537689-15537696 chr20:15537686-15537697 chr20:15537687-15537696
21	JUND	chr20:15537347-15538024	SK-N-SH	brain:	n/a	chr20:15537686-15537698 chr20:15537688-15537697 chr20:15537688-15537696 chr20:15537689-15537696 chr20:15537686-15537697 chr20:15537687-15537696
22	MAFF	chr20:15537575-15537933	HepG2	liver:	n/a	chr20:15537752-15537766 chr20:15537746-15537764
23	MAFF	chr20:15537731-15537778	K562	blood:	n/a	chr20:15537752-15537766 chr20:15537746-15537764
24	MAFK	chr20:15537599-15537910	Hela-S3	cervix:	n/a	chr20:15537753-15537762 chr20:15537748-15537763 chr20:15537747-15537761 chr20:15537749-15537769 chr20:15537752-15537766 chr20:15537756-15537765 chr20:15537748-15537764 chr20:15537748-15537759 chr20:15537753-15537763 chr20:15537686-15537695 chr20:15537751-15537767 chr20:15537686-15537696 chr20:15537748-15537759
25	MAFK	chr20:15537574-15537944	HepG2	liver:	n/a	chr20:15537753-15537762 chr20:15537748-15537763 chr20:15537747-15537761 chr20:15537749-15537769 chr20:15537752-15537766 chr20:15537756-15537765 chr20:15537748-15537764 chr20:15537748-15537759 chr20:15537753-15537763 chr20:15537686-15537695 chr20:15537751-15537767 chr20:15537686-15537696 chr20:15537748-15537759
26	MAFK	chr20:15537574-15537941	IMR90	lung:	n/a	chr20:15537753-15537762 chr20:15537748-15537763 chr20:15537747-15537761 chr20:15537749-15537769 chr20:15537752-15537766 chr20:15537756-15537765 chr20:15537748-15537764 chr20:15537748-15537759 chr20:15537753-15537763 chr20:15537686-15537695 chr20:15537751-15537767 chr20:15537686-15537696 chr20:15537748-15537759
27	MAFK	chr20:15537577-15537915	H1-hESC	embryonic stem cell:	n/a	chr20:15537753-15537762 chr20:15537748-15537763 chr20:15537747-15537761 chr20:15537749-15537769 chr20:15537752-15537766 chr20:15537756-15537765 chr20:15537748-15537764 chr20:15537748-15537759 chr20:15537753-15537763 chr20:15537686-15537695 chr20:15537751-15537767 chr20:15537686-15537696 chr20:15537748-15537759
28	MAFK	chr20:15537575-15537925	HepG2	liver:	n/a	chr20:15537753-15537762 chr20:15537748-15537763 chr20:15537747-15537761 chr20:15537749-15537769 chr20:15537752-15537766 chr20:15537756-15537765 chr20:15537748-15537764 chr20:15537748-15537759 chr20:15537753-15537763 chr20:15537686-15537695 chr20:15537751-15537767 chr20:15537686-15537696 chr20:15537748-15537759
29	POLR2A	chr20:15537556-15537682	MCF10A-Er-Src	breast:	n/a	n/a
30	RAD21	chr20:15538220-15538461	SK-N-SH_RA	brain:	n/a	n/a
31	STAT3	chr20:15537589-15537817	MCF10A-Er-Src	breast:	n/a	chr20:15537688-15537697 chr20:15537687-15537696

Variant related genes	Relation type
ENSG00000225181	TF binding region

Extended variants
information (count: 110 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:110 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534832196	chr20:15535921-15535922	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs547079334	chr20:15535935-15535936	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs571658110	chr20:15535966-15535967	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs186183618	chr20:15535985-15535986	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs557120689	chr20:15535999-15536000	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs1558738	chr20:15536007-15536008	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs536579076	chr20:15536044-15536045	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs571854482	chr20:15536047-15536048	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs369862717	chr20:15536060-15536061	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs191029408	chr20:15536084-15536085	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs113785310	chr20:15536094-15536095	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs182447881	chr20:15536184-15536185	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs6135440	chr20:15536212-15536213	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs559354036	chr20:15536215-15536216	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs577711937	chr20:15536275-15536276	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs6131678	chr20:15536279-15536280	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs544979621	chr20:15536333-15536334	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs563171850	chr20:15536337-15536338	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs373096389	chr20:15536366-15536367	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs201103551	chr20:15536431-15536432	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs397838341	chr20:15536498-15536499	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs199540651	chr20:15536499-15536500	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs2224299	chr20:15536500-15536501	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs67650320	chr20:15536501-15536502	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs372193090	chr20:15536506-15536507	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs376547700	chr20:15536511-15536512	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs561181211	chr20:15536594-15536595	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs114189227	chr20:15536646-15536647	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs12625868	chr20:15536652-15536653	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs6135441	chr20:15536653-15536654	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs571707934	chr20:15536687-15536688	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs187951749	chr20:15536809-15536810	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs550933920	chr20:15536910-15536911	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs569132095	chr20:15536926-15536927	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs192470326	chr20:15536999-15537000	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs554803310	chr20:15537029-15537030	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs6110671	chr20:15537039-15537040	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs534123409	chr20:15537041-15537042	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs144537023	chr20:15537074-15537075	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs1233718	chr20:15537128-15537129	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs544803596	chr20:15537137-15537138	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs73100246	chr20:15537231-15537232	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs575274808	chr20:15537234-15537235	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs6110672	chr20:15537247-15537248	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs563458261	chr20:15537250-15537251	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs573909606	chr20:15537387-15537388	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs561117834	chr20:15537429-15537430	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs528440697	chr20:15537454-15537455	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs542198155	chr20:15537464-15537465	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs187504271	chr20:15537485-15537486	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Breast cancer	16397240	CNVD
abortions and stillbirths	19751515	CNVD
Wilms tumour	21544195	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	16272173	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	19627613	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Colorectal cancer	21645411	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Glaucoma	21310917	CNVD
Alagille syndrome	22470819	CNVD
Lung cancer	16773561	CNVD
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Prostate cancer	18632612	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Myelofibrosis	22110671	CNVD
Kabuki syndrome	21720541	CNVD
Glioblastoma multiforme	22286061	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Neurocytoma	17123091	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	20164919	CNVD
Multiple sclerosis	20663923	CNVD
Schizophrenia	20663923	CNVD
brain infarct	20663923	CNVD
Breast cancer	22522925	CNVD
Cancer	20164920	CNVD
Esophageal adenocarcinoma	18519675	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:15533400-15541600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr20:15533800-15541600	Weak transcription	Fetal Brain Male	brain
3	chr20:15536000-15537000	Enhancers	Fetal Stomach	stomach
4	chr20:15536600-15536800	Enhancers	Rectal Smooth Muscle	rectum
5	chr20:15536600-15536800	Enhancers	NHDF-Ad	bronchial
6	chr20:15536600-15537200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr20:15536600-15537800	Enhancers	Colon Smooth Muscle	Colon
8	chr20:15536600-15538400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr20:15536800-15537600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr20:15537000-15541200	Weak transcription	Fetal Stomach	stomach
11	chr20:15537400-15537600	Enhancers	NHDF-Ad	bronchial
12	chr20:15537600-15537800	Enhancers	Rectal Smooth Muscle	rectum
13	chr20:15537800-15538200	Weak transcription	Colon Smooth Muscle	Colon
14	chr20:15537800-15541600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr20:15538200-15538400	Enhancers	Colon Smooth Muscle	Colon
16	chr20:15538200-15538400	Enhancers	Stomach Smooth Muscle	stomach
17	chr20:15538200-15538800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr20:15538400-15539000	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr20:15538400-15541800	Weak transcription	Colon Smooth Muscle	Colon
20	chr20:15538400-15541800	Weak transcription	Stomach Smooth Muscle	stomach

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