Variant report

Variant	nsv569492
Chromosome Location	chr15:54276551-54301375
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	chr15:54290069-54290134	MCF-7	breast:	n/a	n/a
2	CTCF	chr15:54287040-54287190	Caco-2	colon:	n/a	n/a
3	E2F4	chr15:54280465-54280752	MCF10A-Er-Src	breast:	n/a	n/a
4	FAM48A	chr15:54288694-54288858	GM12878	blood:	n/a	n/a
5	JUN	chr15:54299523-54299767	HepG2	liver:	n/a	chr15:54299633-54299646
6	JUN	chr15:54280772-54280894	H1-hESC	embryonic stem cell:	n/a	n/a
7	JUND	chr15:54299461-54299776	HepG2	liver:	n/a	n/a
8	MAFF	chr15:54276936-54277136	HepG2	liver:	n/a	chr15:54277023-54277041
9	MAFK	chr15:54276881-54277181	HepG2	liver:	n/a	chr15:54277029-54277040 chr15:54277029-54277040 chr15:54277024-54277039 chr15:54277027-54277041 chr15:54277024-54277040
10	MAFK	chr15:54276893-54277178	HepG2	liver:	n/a	chr15:54277029-54277040 chr15:54277029-54277040 chr15:54277024-54277039 chr15:54277027-54277041 chr15:54277024-54277040
11	MAZ	chr15:54279013-54279102	HepG2	liver:	n/a	n/a
12	MYC	chr15:54290088-54290214	MCF-7	breast:	n/a	n/a
13	MYC	chr15:54290059-54290157	MCF-7	breast:	n/a	n/a
14	MYC	chr15:54283659-54283703	NB4	blood:	n/a	n/a
15	NFYB	chr15:54279658-54279807	GM12878	blood:	n/a	n/a
16	POLR2A	chr15:54284936-54285001	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr15:54298281-54298402	GM12878	blood:	n/a	n/a
18	POLR2A	chr15:54290065-54290128	A549	lung:	n/a	n/a
19	POLR2A	chr15:54290044-54290181	MCF-7	breast:	n/a	n/a
20	POLR2A	chr15:54290041-54290149	MCF-7	breast:	n/a	n/a
21	POLR2A	chr15:54279623-54279651	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr15:54297378-54297540	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr15:54290656-54290923	MCF10A-Er-Src	breast:	n/a	n/a
24	STAT3	chr15:54282805-54282934	MCF10A-Er-Src	breast:	n/a	chr15:54282815-54282826
25	STAT3	chr15:54280664-54280759	MCF10A-Er-Src	breast:	n/a	n/a
26	STAT3	chr15:54292549-54292829	MCF10A-Er-Src	breast:	n/a	n/a
27	TBP	chr15:54277714-54278067	GM12878	blood:	n/a	n/a
28	TBP	chr15:54279630-54279781	GM12878	blood:	n/a	n/a
29	USF2	chr15:54287801-54287985	GM12878	blood:	n/a	n/a
30	USF2	chr15:54294002-54294038	GM12878	blood:	n/a	n/a
31	WRNIP1	chr15:54298990-54299018	GM12878	blood:	n/a	n/a
32	ZNF143	chr15:54286083-54286122	H1-hESC	embryonic stem cell:	n/a	n/a
33	ZNF143	chr15:54279968-54280049	GM12878	blood:	n/a	n/a
34	ZNF143	chr15:54285968-54286131	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:54298660..54299394-chr15:54317743..54318508,2	MCF-7	breast:
2	chr15:54272577..54275424-chr15:54278207..54281083,2	MCF-7	breast:

Variant related genes	Relation type
UNC13C	TF binding region

Extended variants
information (count: 1069 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1069 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs991264	chr15:54276551-54276552	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs370779968	chr15:54276554-54276555	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs575264581	chr15:54276564-54276565	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs562085088	chr15:54276570-54276571	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs2616910	chr15:54276583-54276584	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs564339434	chr15:54276584-54276585	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs111613139	chr15:54276620-54276621	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs143211667	chr15:54276649-54276650	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs2616909	chr15:54276656-54276657	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs535812252	chr15:54276681-54276682	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs376261049	chr15:54276693-54276694	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs529361253	chr15:54276696-54276697	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs549409236	chr15:54276779-54276780	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs569029257	chr15:54276791-54276792	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs56104040	chr15:54276799-54276800	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs551393369	chr15:54276833-54276834	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs571586652	chr15:54276850-54276851	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs192577670	chr15:54276902-54276903	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs1382224	chr15:54276942-54276943	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs567805803	chr15:54276953-54276954	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs536450843	chr15:54276968-54276969	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs1382223	chr15:54277010-54277011	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs562679123	chr15:54277093-54277094	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs78754894	chr15:54277094-54277095	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs369106783	chr15:54277182-54277183	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs370755380	chr15:54277195-54277196	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs148544576	chr15:54277196-54277197	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs142862056	chr15:54277240-54277241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs184391559	chr15:54277248-54277249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs564533359	chr15:54277278-54277279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs111959741	chr15:54277294-54277295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs139700618	chr15:54277316-54277317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs190165530	chr15:54277322-54277323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143546567	chr15:54277365-54277366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548698082	chr15:54277371-54277372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs146757153	chr15:54277385-54277386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531716529	chr15:54277435-54277436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs193002141	chr15:54277447-54277448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571347360	chr15:54277462-54277463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567340254	chr15:54277478-54277479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200189141	chr15:54277528-54277529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548023578	chr15:54277546-54277547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567887260	chr15:54277554-54277555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12438683	chr15:54277562-54277563	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs556830674	chr15:54277571-54277572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568954877	chr15:54277626-54277627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537990214	chr15:54277632-54277633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs151123382	chr15:54277633-54277634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184855909	chr15:54277636-54277637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577672930	chr15:54277684-54277685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	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
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	22032731	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Acute monocytic leukemia	16498392	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:54269200-54277200	Active TSS	Aorta	Aorta
2	chr15:54271800-54281200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr15:54276400-54276600	Active TSS	Fetal Lung	lung
4	chr15:54276600-54277000	Enhancers	Fetal Lung	lung
5	chr15:54277000-54283800	Weak transcription	Fetal Lung	lung
6	chr15:54277200-54277800	Weak transcription	Aorta	Aorta
7	chr15:54277800-54278200	Enhancers	Aorta	Aorta
8	chr15:54278200-54283600	Weak transcription	Aorta	Aorta
9	chr15:54279800-54280200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr15:54280000-54280400	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr15:54283800-54286000	ZNF genes & repeats	Fetal Lung	lung
12	chr15:54284400-54284600	ZNF genes & repeats	Aorta	Aorta
13	chr15:54285400-54285800	ZNF genes & repeats	Aorta	Aorta
14	chr15:54285800-54288200	Weak transcription	Aorta	Aorta
15	chr15:54286000-54302000	Weak transcription	Fetal Lung	lung
16	chr15:54288200-54288400	Enhancers	Aorta	Aorta
17	chr15:54288400-54288600	Weak transcription	Aorta	Aorta
18	chr15:54299600-54300200	ZNF genes & repeats	Aorta	Aorta
19	chr15:54300200-54305200	Weak transcription	Aorta	Aorta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links