Variant report

Variant	nsv564347
Chromosome Location	chr14:37558794-37590164
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:359)
CpG islands
(count:0)
Chromatin interactive
region (count:24)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:359 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr14:37563047-37563431	K562	blood:	n/a	n/a
2	ARID3A	chr14:37558841-37558905	K562	blood:	n/a	n/a
3	ATF1	chr14:37558607-37559216	K562	blood:	n/a	n/a
4	BCL3	chr14:37586083-37586621	A549	lung:	n/a	chr14:37586327-37586336
5	BHLHE40	chr14:37562651-37562925	K562	blood:	n/a	n/a
6	BHLHE40	chr14:37563542-37564042	K562	blood:	n/a	n/a
7	BRCA1	chr14:37586806-37587108	Hela-S3	cervix:	n/a	n/a
8	CBX3	chr14:37575419-37575791	K562	blood:	n/a	n/a
9	CCNT2	chr14:37577934-37578134	K562	blood:	n/a	n/a
10	CEBPB	chr14:37583213-37583353	HepG2	liver:	n/a	chr14:37583248-37583259
11	CEBPB	chr14:37583079-37583601	Hela-S3	cervix:	n/a	chr14:37583248-37583259
12	CEBPB	chr14:37586048-37586642	A549	lung:	n/a	n/a
13	CEBPB	chr14:37583134-37583637	MCF-7	breast:	n/a	chr14:37583248-37583259
14	CEBPB	chr14:37586043-37587104	Hela-S3	cervix:	n/a	chr14:37587044-37587056
15	CEBPB	chr14:37563135-37563446	K562	blood:	n/a	chr14:37563280-37563291
16	CEBPB	chr14:37578675-37578941	HepG2	liver:	n/a	n/a
17	CEBPB	chr14:37583032-37583809	MCF-7	breast:	n/a	chr14:37583248-37583259
18	CEBPB	chr14:37559426-37559622	H1-hESC	embryonic stem cell:	n/a	n/a
19	CEBPB	chr14:37563155-37563445	HepG2	liver:	n/a	chr14:37563280-37563291
20	CEBPB	chr14:37582256-37582758	MCF-7	breast:	n/a	n/a
21	CEBPB	chr14:37586179-37586571	A549	lung:	n/a	n/a
22	CEBPB	chr14:37558608-37558795	K562	blood:	n/a	n/a
23	CEBPB	chr14:37578719-37578942	K562	blood:	n/a	n/a
24	CEBPB	chr14:37578765-37578929	Hela-S3	cervix:	n/a	n/a
25	CEBPB	chr14:37578644-37578705	H1-hESC	embryonic stem cell:	n/a	n/a
26	CEBPB	chr14:37578725-37578938	A549	lung:	n/a	n/a
27	CEBPB	chr14:37586077-37586566	MCF-7	breast:	n/a	n/a
28	CREB1	chr14:37558700-37558971	K562	blood:	n/a	n/a
29	CREB1	chr14:37558567-37559045	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr14:37586840-37586990	AG09309	skin:	n/a	n/a
31	CTCF	chr14:37586687-37587200	MCF-7	breast:	n/a	n/a
32	CTCF	chr14:37586860-37587010	RPTEC	kidney:	n/a	n/a
33	CTCF	chr14:37586880-37587030	AoAF	blood vessel:	n/a	n/a
34	CTCF	chr14:37586880-37587030	HL-60	blood:	n/a	n/a
35	CTCF	chr14:37586840-37586990	GM12873	blood:	n/a	n/a
36	CTCF	chr14:37586880-37587030	HEEpiC	esophagus:	n/a	n/a
37	CTCF	chr14:37586740-37586890	A549	lung:	n/a	n/a
38	CTCF	chr14:37586840-37586990	HRE	kidney:	n/a	n/a
39	CTCF	chr14:37559538-37559588	MCF-7	breast:	n/a	n/a
40	CTCF	chr14:37586820-37586970	NHEK	skin:	n/a	n/a
41	CTCF	chr14:37586762-37587124	A549	lung:	n/a	n/a
42	CTCF	chr14:37586900-37587050	HMEC	breast:	n/a	n/a
43	CTCF	chr14:37586786-37587137	K562	blood:	n/a	n/a
44	CTCF	chr14:37586880-37587030	MCF-7	breast:	n/a	n/a
45	CTCF	chr14:37586860-37587010	NHLF	lung:	n/a	n/a
46	CTCF	chr14:37586820-37586970	HCT-116	colon:	n/a	n/a
47	CTCF	chr14:37586880-37587030	AG04450	lung:	n/a	n/a
48	CTCF	chr14:37586880-37587030	HPF	lung:	n/a	n/a
49	CTCF	chr14:37586840-37586990	BJ	skin:	n/a	n/a
50	CTCF	chr14:37586920-37587070	A549	lung:	n/a	n/a

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:37579586..37581126-chr14:37583295..37585888,2	K562	blood:
2	chr14:37577414..37579393-chr14:37583140..37584879,2	K562	blood:
3	chr14:37580174..37584845-chr14:37588606..37592760,5	MCF-7	breast:
4	chr14:37577414..37579393-chr14:37583140..37584879,2	K562	blood:
5	chr14:37411236..37411778-chr14:37586529..37587352,2	MCF-7	breast:
6	chr14:37546643..37550099-chr14:37558000..37561401,3	K562	blood:
7	chr14:37548599..37550986-chr14:37557970..37560958,2	K562	blood:
8	chr14:37560763..37563483-chr14:37564350..37566033,2	MCF-7	breast:
9	chr14:37563198..37565090-chr14:38061386..38063484,2	MCF-7	breast:
10	chr14:37561103..37563065-chr14:37576715..37579105,2	MCF-7	breast:
11	chr14:37559384..37561307-chr14:37642361..37644125,2	K562	blood:
12	chr14:37580174..37584845-chr14:37588606..37592760,5	MCF-7	breast:
13	chr14:37558524..37560785-chr14:37561161..37564362,3	K562	blood:
14	chr14:37443180..37446784-chr14:37583565..37587987,4	MCF-7	breast:
15	chr14:37579586..37581126-chr14:37583295..37585888,2	K562	blood:
16	chr14:37561103..37563065-chr14:37576715..37579105,2	MCF-7	breast:
17	chr14:37492863..37493768-chr14:37586781..37587332,2	MCF-7	breast:
18	chr14:37578874..37583867-chr14:37583944..37587801,9	MCF-7	breast:
19	chr14:37560763..37563483-chr14:37564350..37566033,2	MCF-7	breast:
20	chr14:37587663..37589305-chr14:37591557..37593848,2	MCF-7	breast:
21	chr14:37578874..37583867-chr14:37583944..37587801,9	MCF-7	breast:
22	chr14:37192459..37195312-chr14:37570603..37573601,2	K562	blood:
23	chr14:36918851..36919626-chr14:37586517..37587298,2	MCF-7	breast:
24	chr14:37558524..37560785-chr14:37561161..37564362,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FOXA1-3	chr14:37566267-37566387	ENSG00000258827.2
2	lnc-FOXA1-3	chr14:37566267-37566380	ENSG00000258827.1
3	lnc-FOXA1-3	chr14:37567062-37567768	ENSG00000258827.2
4	lnc-FOXA1-3	chr14:37567056-37567768	ENSG00000258827.1

No data

Variant related genes	Relation type
ENSG00000258827	TF binding region
ENSG00000183032	chromatin interactions
ENSG00000129514	chromatin interactions

Extended variants
information (count: 916 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:916 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1950377	chr14:37558794-37558795	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs529458804	chr14:37558825-37558826	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs371482848	chr14:37558832-37558833	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs549456523	chr14:37558839-37558840	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs531558463	chr14:37558857-37558858	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs569212244	chr14:37558858-37558859	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs373462456	chr14:37558868-37558869	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs17106290	chr14:37558871-37558872	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs112904262	chr14:37558880-37558881	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs189054379	chr14:37558905-37558906	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs80256923	chr14:37558906-37558907	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs548469200	chr14:37558912-37558913	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs181835939	chr14:37559049-37559050	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs367576998	chr14:37559050-37559051	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs542367403	chr14:37559069-37559070	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs35523708	chr14:37559070-37559071	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs186341528	chr14:37559071-37559072	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs190913460	chr14:37559092-37559093	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs182576270	chr14:37559105-37559106	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs372070443	chr14:37559197-37559198	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs148699509	chr14:37559207-37559208	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs531497764	chr14:37559225-37559226	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs35562219	chr14:37559264-37559265	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs577701066	chr14:37559266-37559267	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs543040320	chr14:37559281-37559282	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs116333046	chr14:37559372-37559373	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs369632164	chr14:37559380-37559381	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs529497949	chr14:37559391-37559392	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs17106291	chr14:37559401-37559402	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs563019317	chr14:37559418-37559419	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs186333834	chr14:37559464-37559465	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs142215415	chr14:37559478-37559479	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs571349324	chr14:37559485-37559486	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs12889634	chr14:37559513-37559514	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs547194598	chr14:37559547-37559548	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs565719754	chr14:37559560-37559561	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs566610409	chr14:37559608-37559609	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs535656302	chr14:37559622-37559623	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs146740251	chr14:37559623-37559624	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs191135978	chr14:37559632-37559633	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs35309136	chr14:37559662-37559663	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs199498479	chr14:37559687-37559688	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs537423177	chr14:37559828-37559829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs149255736	chr14:37559830-37559831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs140319826	chr14:37559837-37559838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs34975333	chr14:37559875-37559876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182835493	chr14:37559930-37559931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs540192923	chr14:37559934-37559935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs8009630	chr14:37559976-37559977	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs150042644	chr14:37559978-37559979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	17925434	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Prostate cancer	21298110	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Lung cancer	20031968	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Prostate cancer	21147910	CNVD
Cancer	20164919	CNVD

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:37553400-37562600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:37557600-37559400	Enhancers	Brain Germinal Matrix	brain
3	chr14:37557800-37559600	Enhancers	Fetal Stomach	stomach
4	chr14:37558000-37558800	Active TSS	K562	blood
5	chr14:37558000-37559000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr14:37558800-37559400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr14:37558800-37559600	Flanking Active TSS	K562	blood
8	chr14:37559000-37559200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr14:37559000-37559600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr14:37559200-37559400	Enhancers	NHDF-Ad	bronchial
11	chr14:37559200-37559600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr14:37559400-37559600	Enhancers	Lung	lung
13	chr14:37559400-37559600	Enhancers	Pancreas	Pancrea
14	chr14:37559400-37559800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr14:37559400-37559800	Enhancers	Esophagus	oesophagus
16	chr14:37559400-37559800	Flanking Active TSS	NHDF-Ad	bronchial
17	chr14:37559600-37559800	Enhancers	K562	blood
18	chr14:37559800-37562800	Weak transcription	K562	blood
19	chr14:37560600-37561000	Enhancers	NH-A	brain
20	chr14:37561000-37561400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr14:37561400-37568000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr14:37562600-37562800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:37562800-37564800	Enhancers	K562	blood
24	chr14:37578000-37584400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr14:37582400-37585400	Enhancers	Muscle Satellite Cultured Cells	--
26	chr14:37582400-37587600	Enhancers	Hela-S3	cervix
27	chr14:37582400-37602800	Weak transcription	K562	blood
28	chr14:37582600-37582800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr14:37582800-37583600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr14:37583200-37583400	Enhancers	HSMMtube	muscle
31	chr14:37583200-37583800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr14:37583200-37584400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr14:37583200-37585400	Weak transcription	Aorta	Aorta
34	chr14:37583400-37584200	Enhancers	A549	lung
35	chr14:37583400-37586200	Weak transcription	HSMMtube	muscle
36	chr14:37583600-37583800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr14:37583600-37584000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr14:37583800-37584000	Enhancers	HSMM	muscle
39	chr14:37583800-37585600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr14:37583800-37586400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr14:37584000-37585400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr14:37584200-37585000	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr14:37584200-37585400	Weak transcription	A549	lung
44	chr14:37584400-37584600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr14:37584400-37584800	Enhancers	H1 Cell Line	embryonic stem cell
46	chr14:37584400-37585000	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr14:37584400-37585400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr14:37584400-37585600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr14:37584800-37585600	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr14:37585000-37586400	Weak transcription	HUES48 Cell Line	embryonic stem cell

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