Variant report

Variant	nsv528691
Chromosome Location	chr14:64068806-64098555
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	CEBPB	chr14:64078100-64078169	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr14:64082801-64083065	A549	lung:	n/a	chr14:64082932-64082943
3	CEBPB	chr14:64077864-64078229	A549	lung:	n/a	chr14:64078004-64078015
4	CEBPB	chr14:64082796-64083113	HepG2	liver:	n/a	chr14:64082932-64082943
5	CEBPB	chr14:64082821-64083184	MCF-7	breast:	n/a	chr14:64082932-64082943
6	CEBPB	chr14:64091076-64091172	Hela-S3	cervix:	n/a	chr14:64091135-64091146
7	CEBPB	chr14:64082838-64083012	HepG2	liver:	n/a	chr14:64082932-64082943
8	CEBPB	chr14:64077932-64078206	IMR90	lung:	n/a	chr14:64078004-64078015
9	CEBPB	chr14:64077856-64078197	A549	lung:	n/a	chr14:64078004-64078015
10	CEBPB	chr14:64090972-64091286	K562	blood:	n/a	chr14:64091135-64091146
11	CEBPB	chr14:64077788-64078208	MCF-7	breast:	n/a	chr14:64078004-64078015
12	CEBPB	chr14:64082828-64083098	Hela-S3	cervix:	n/a	chr14:64082932-64082943
13	CEBPB	chr14:64090971-64091279	H1-hESC	embryonic stem cell:	n/a	chr14:64091135-64091146
14	CEBPB	chr14:64091011-64091211	HepG2	liver:	n/a	chr14:64091135-64091146
15	CEBPB	chr14:64077896-64078200	HepG2	liver:	n/a	chr14:64078004-64078015
16	CEBPB	chr14:64082816-64083053	IMR90	lung:	n/a	chr14:64082932-64082943
17	CEBPB	chr14:64077927-64078178	H1-hESC	embryonic stem cell:	n/a	chr14:64078004-64078015
18	CEBPB	chr14:64077887-64078193	K562	blood:	n/a	chr14:64078004-64078015
19	CTCF	chr14:64091703-64091709	K562	blood:	n/a	n/a
20	CTCF	chr14:64075733-64075839	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr14:64075733-64075839	MCF-7	breast:	n/a	n/a
22	CTCF	chr14:64075717-64075785	MCF-7	breast:	n/a	n/a
23	CTCF	chr14:64081120-64081270	HPAF	blood vessel:	n/a	n/a
24	CTCF	chr14:64075737-64075826	MCF-7	breast:	n/a	n/a
25	E2F4	chr14:64082818-64083086	MCF10A-Er-Src	breast:	n/a	n/a
26	EP300	chr14:64081731-64082126	SK-N-SH_RA	brain:	n/a	chr14:64081780-64081787
27	EP300	chr14:64081800-64082098	SK-N-SH_RA	brain:	n/a	n/a
28	FOS	chr14:64081627-64081919	MCF10A-Er-Src	breast:	n/a	n/a
29	FOS	chr14:64071928-64072066	MCF10A-Er-Src	breast:	n/a	n/a
30	FOS	chr14:64071859-64072074	MCF10A-Er-Src	breast:	n/a	n/a
31	FOS	chr14:64082873-64083055	MCF10A-Er-Src	breast:	n/a	n/a
32	FOS	chr14:64082877-64083131	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr14:64071986-64072074	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr14:64082889-64083121	MCF10A-Er-Src	breast:	n/a	n/a
35	FOS	chr14:64082918-64083061	MCF10A-Er-Src	breast:	n/a	n/a
36	FOS	chr14:64081281-64082100	HUVEC	blood vessel:	n/a	chr14:64081579-64081589 chr14:64081579-64081589
37	FOS	chr14:64081629-64081948	MCF10A-Er-Src	breast:	n/a	n/a
38	FOS	chr14:64081630-64081873	MCF10A-Er-Src	breast:	n/a	n/a
39	FOS	chr14:64098430-64098537	MCF10A-Er-Src	breast:	n/a	n/a
40	FOSL2	chr14:64081556-64082018	SK-N-SH	brain:	n/a	chr14:64081579-64081589 chr14:64081579-64081589
41	FOSL2	chr14:64081518-64082032	SK-N-SH	brain:	n/a	chr14:64081579-64081589 chr14:64081579-64081589
42	FOXA1	chr14:64091421-64091836	T-47D	breast:	n/a	chr14:64091661-64091676
43	FOXA1	chr14:64091453-64091869	T-47D	breast:	n/a	chr14:64091661-64091676
44	FOXA2	chr14:64093725-64093882	HepG2	liver:	n/a	n/a
45	GATA2	chr14:64081638-64082066	HUVEC	blood vessel:	n/a	chr14:64081773-64081783
46	GATA3	chr14:64076531-64076725	SH-SY5Y	brain:	n/a	chr14:64076628-64076635 chr14:64076628-64076635 chr14:64076628-64076635 chr14:64076621-64076642 chr14:64076624-64076640
47	GATA3	chr14:64081478-64082175	SK-N-SH	brain:	n/a	chr14:64081773-64081783
48	GATA3	chr14:64087019-64087277	T-47D	breast:	n/a	n/a
49	GATA3	chr14:64086964-64087544	MCF-7	breast:	n/a	n/a
50	GATA3	chr14:64086832-64087414	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:64061679..64063280-chr14:64068459..64070422,2	K562	blood:
2	chr14:64098020..64101440-chr14:64106409..64111009,7	MCF-7	breast:
3	chr14:64086573..64089616-chr14:64097493..64100505,3	MCF-7	breast:
4	chr14:64086921..64089569-chr14:64107307..64109779,2	K562	blood:
5	chr14:64098270..64100466-chr14:64102524..64104222,2	K562	blood:
6	chr14:64072301..64074210-chr14:64193783..64195791,2	MCF-7	breast:
7	chr14:64009741..64012030-chr14:64092618..64095810,3	MCF-7	breast:
8	chr14:64008866..64010910-chr14:64088046..64091397,3	MCF-7	breast:

Variant related genes	Relation type
RNU6-1162P	TF binding region
RNU6-597P	TF binding region
ENSG00000206822	TF binding region
ENSG00000206822	chromatin interactions
ENSG00000261242	chromatin interactions
ENSG00000140006	chromatin interactions
ENSG00000154001	chromatin interactions
ENSG00000126821	chromatin interactions
ENSG00000270878	chromatin interactions

Extended variants
information (count: 1194 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:1194 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7160317	chr14:64068806-64068807	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs553199094	chr14:64068832-64068833	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs116744520	chr14:64068846-64068847	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs536173271	chr14:64068886-64068887	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs374025943	chr14:64068889-64068890	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs376883484	chr14:64068909-64068910	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs575140583	chr14:64068930-64068931	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs1272711	chr14:64068937-64068938	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs544233025	chr14:64068965-64068966	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs7142943	chr14:64068966-64068967	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs577859533	chr14:64069064-64069065	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs1271026	chr14:64069069-64069070	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs147292103	chr14:64069081-64069082	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs148355331	chr14:64069116-64069117	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs529155288	chr14:64069130-64069131	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs188312859	chr14:64069145-64069146	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs58161137	chr14:64069203-64069204	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs542881073	chr14:64069261-64069262	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs8007512	chr14:64069288-64069289	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs539015001	chr14:64069306-64069307	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs181919040	chr14:64069319-64069320	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs187661164	chr14:64069320-64069321	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs570611356	chr14:64069333-64069334	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs12881318	chr14:64069382-64069383	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs191533277	chr14:64069390-64069391	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs183786751	chr14:64069406-64069407	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs12881187	chr14:64069421-64069422	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs567023685	chr14:64069430-64069431	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs10142782	chr14:64069431-64069432	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs12881647	chr14:64069439-64069440	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs12881344	chr14:64069444-64069445	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs186865067	chr14:64069447-64069448	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs12881655	chr14:64069450-64069451	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs12881656	chr14:64069453-64069454	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs12882680	chr14:64069461-64069462	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs12882685	chr14:64069477-64069478	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs111278389	chr14:64069483-64069484	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs10638554	chr14:64069490-64069491	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs534659972	chr14:64069510-64069511	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs557826419	chr14:64069533-64069534	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs12323705	chr14:64069545-64069546	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs150845946	chr14:64069557-64069558	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs377388386	chr14:64069601-64069602	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs182570158	chr14:64069608-64069609	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs553608731	chr14:64069628-64069629	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs12881722	chr14:64069673-64069674	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs573746221	chr14:64069678-64069679	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs542468139	chr14:64069704-64069705	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs554855007	chr14:64069709-64069710	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs562757354	chr14:64069725-64069726	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
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
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17603634	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Leukemia	18688285	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Autism	22543975	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:597 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64061200-64081200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr14:64062000-64108000	Weak transcription	Spleen	Spleen
3	chr14:64062200-64070000	Weak transcription	Fetal Brain Female	brain
4	chr14:64062200-64070400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr14:64062200-64071600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr14:64062200-64077800	Weak transcription	Esophagus	oesophagus
7	chr14:64062200-64082400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr14:64062200-64107600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr14:64062600-64107000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr14:64062800-64105400	Weak transcription	Hela-S3	cervix
11	chr14:64063000-64069400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr14:64063200-64072200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr14:64063200-64092800	Weak transcription	Aorta	Aorta
14	chr14:64063400-64098600	Weak transcription	Small Intestine	intestine
15	chr14:64063600-64069200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr14:64063600-64071000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr14:64063800-64069200	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr14:64063800-64070600	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr14:64064200-64070800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr14:64064200-64071800	Weak transcription	Fetal Heart	heart
21	chr14:64064600-64069200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr14:64064800-64069000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr14:64064800-64081000	Weak transcription	NHLF	lung
24	chr14:64065200-64069000	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr14:64065400-64069200	Strong transcription	Liver	Liver
26	chr14:64065400-64071200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr14:64065600-64069200	Strong transcription	Left Ventricle	heart
28	chr14:64065800-64081000	Weak transcription	Brain Hippocampus Middle	brain
29	chr14:64066000-64081200	Weak transcription	NHDF-Ad	bronchial
30	chr14:64066000-64081800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr14:64066200-64069000	Weak transcription	HMEC	breast
32	chr14:64066200-64070200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr14:64066200-64076800	Weak transcription	Placenta	Placenta
34	chr14:64066200-64080400	Weak transcription	HUVEC	blood vessel
35	chr14:64066200-64080800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr14:64066200-64081400	Weak transcription	Brain Anterior Caudate	brain
37	chr14:64066200-64081600	Weak transcription	Brain Cingulate Gyrus	brain
38	chr14:64066200-64081600	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr14:64066200-64082000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr14:64066200-64083800	Weak transcription	Lung	lung
41	chr14:64066200-64084200	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr14:64066200-64086400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr14:64066200-64097400	Weak transcription	Gastric	stomach
44	chr14:64066200-64099400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr14:64066200-64107600	Weak transcription	Pancreas	Pancrea
46	chr14:64066400-64073600	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr14:64066400-64077000	Weak transcription	NH-A	brain
48	chr14:64066400-64079400	Weak transcription	Primary hematopoietic stem cells	blood
49	chr14:64066400-64079600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr14:64066400-64081200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links