Variant report

Variant	nsv546621
Chromosome Location	chr1:79358827-79458347
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	BHLHE40	chr1:79405513-79405527	GM12878	blood:	n/a	n/a
2	BRCA1	chr1:79415111-79415262	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr1:79379656-79380004	HepG2	liver:	n/a	n/a
4	CEBPB	chr1:79378071-79378234	K562	blood:	n/a	n/a
5	CEBPB	chr1:79377662-79378457	ECC-1	luminal epithelium:	n/a	chr1:79377823-79377834 chr1:79377848-79377859 chr1:79377824-79377833 chr1:79377822-79377835 chr1:79377822-79377833
6	CEBPB	chr1:79409333-79409445	K562	blood:	n/a	chr1:79409399-79409408 chr1:79409398-79409409 chr1:79409397-79409408
7	CEBPB	chr1:79405681-79405919	HepG2	liver:	n/a	n/a
8	CEBPB	chr1:79377641-79378427	ECC-1	luminal epithelium:	n/a	chr1:79377823-79377834 chr1:79377848-79377859 chr1:79377824-79377833 chr1:79377822-79377835 chr1:79377822-79377833
9	CEBPB	chr1:79379779-79379879	K562	blood:	n/a	n/a
10	CEBPB	chr1:79451152-79451394	A549	lung:	n/a	chr1:79451261-79451272 chr1:79451259-79451270 chr1:79451259-79451272 chr1:79451201-79451214
11	CEBPB	chr1:79451113-79451392	HepG2	liver:	n/a	chr1:79451261-79451272 chr1:79451259-79451270 chr1:79451259-79451272 chr1:79451201-79451214
12	CEBPB	chr1:79451150-79451399	K562	blood:	n/a	chr1:79451261-79451272 chr1:79451259-79451270 chr1:79451259-79451272 chr1:79451201-79451214
13	CEBPB	chr1:79409261-79409575	HepG2	liver:	n/a	chr1:79409399-79409408 chr1:79409398-79409409 chr1:79409397-79409408
14	CEBPB	chr1:79409235-79409568	Hela-S3	cervix:	n/a	chr1:79409399-79409408 chr1:79409398-79409409 chr1:79409397-79409408
15	CEBPB	chr1:79414890-79415047	HepG2	liver:	n/a	chr1:79414944-79414957 chr1:79414973-79414990
16	CEBPB	chr1:79379678-79379999	IMR90	lung:	n/a	n/a
17	CEBPB	chr1:79377613-79378467	Hela-S3	cervix:	n/a	chr1:79377823-79377834 chr1:79377848-79377859 chr1:79377824-79377833 chr1:79377822-79377835 chr1:79377822-79377833
18	CEBPB	chr1:79379650-79380020	Hela-S3	cervix:	n/a	n/a
19	CEBPB	chr1:79409304-79409537	IMR90	lung:	n/a	chr1:79409399-79409408 chr1:79409398-79409409 chr1:79409397-79409408
20	CEBPB	chr1:79377703-79378070	A549	lung:	n/a	chr1:79377823-79377834 chr1:79377848-79377859 chr1:79377824-79377833 chr1:79377822-79377835 chr1:79377822-79377833
21	CEBPB	chr1:79377650-79378354	IMR90	lung:	n/a	chr1:79377823-79377834 chr1:79377848-79377859 chr1:79377824-79377833 chr1:79377822-79377835 chr1:79377822-79377833
22	CEBPB	chr1:79453639-79453775	H1-hESC	embryonic stem cell:	n/a	n/a
23	CEBPB	chr1:79377749-79377922	H1-hESC	embryonic stem cell:	n/a	chr1:79377823-79377834 chr1:79377848-79377859 chr1:79377824-79377833 chr1:79377822-79377835 chr1:79377822-79377833
24	CEBPB	chr1:79409258-79409472	A549	lung:	n/a	chr1:79409399-79409408 chr1:79409398-79409409 chr1:79409397-79409408
25	CEBPB	chr1:79414781-79415272	Hela-S3	cervix:	n/a	chr1:79414944-79414957 chr1:79414973-79414990
26	CEBPB	chr1:79451090-79451446	IMR90	lung:	n/a	chr1:79451261-79451272 chr1:79451259-79451270 chr1:79451259-79451272 chr1:79451201-79451214
27	CEBPB	chr1:79377671-79378334	A549	lung:	n/a	chr1:79377823-79377834 chr1:79377848-79377859 chr1:79377824-79377833 chr1:79377822-79377835 chr1:79377822-79377833
28	CEBPB	chr1:79379712-79379997	A549	lung:	n/a	n/a
29	CEBPB	chr1:79377650-79378354	HepG2	liver:	n/a	chr1:79377823-79377834 chr1:79377848-79377859 chr1:79377824-79377833 chr1:79377822-79377835 chr1:79377822-79377833
30	CEBPB	chr1:79379745-79379945	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr1:79438660-79438692	Lung_OC	lung:	n/a	n/a
32	CTCF	chr1:79365460-79365610	GM12865	blood:	n/a	n/a
33	CTCF	chr1:79363160-79363310	NHDF-neo	bronchial:	n/a	n/a
34	CTCF	chr1:79362002-79362025	GM20000	blood:	n/a	n/a
35	CTCF	chr1:79433023-79433073	GM13976	blood:	n/a	n/a
36	CTCF	chr1:79429600-79429750	GM06990	blood:	n/a	n/a
37	CTCF	chr1:79365110-79365176	GM13976	blood:	n/a	n/a
38	CTCF	chr1:79424140-79424290	NHLF	lung:	n/a	n/a
39	E2F4	chr1:79409879-79410355	MCF10A-Er-Src	breast:	n/a	n/a
40	E2F4	chr1:79383918-79384144	MCF10A-Er-Src	breast:	n/a	n/a
41	E2F4	chr1:79368083-79368213	MCF10A-Er-Src	breast:	n/a	n/a
42	E2F4	chr1:79383372-79383499	MCF10A-Er-Src	breast:	n/a	n/a
43	EP300	chr1:79377938-79378639	ECC-1	luminal epithelium:	n/a	n/a
44	EP300	chr1:79414914-79415277	Hela-S3	cervix:	n/a	n/a
45	EP300	chr1:79378162-79378596	ECC-1	luminal epithelium:	n/a	n/a
46	EP300	chr1:79377628-79378045	Hela-S3	cervix:	n/a	n/a
47	FOS	chr1:79418474-79418595	MCF10A-Er-Src	breast:	n/a	chr1:79418556-79418567 chr1:79418558-79418569 chr1:79418558-79418570 chr1:79418560-79418568
48	FOS	chr1:79377681-79377995	MCF10A-Er-Src	breast:	n/a	chr1:79377756-79377767
49	FOS	chr1:79384039-79384310	MCF10A-Er-Src	breast:	n/a	chr1:79384134-79384142 chr1:79384134-79384141 chr1:79384132-79384143 chr1:79384133-79384142 chr1:79384134-79384143
50	FOS	chr1:79377662-79377976	MCF10A-Er-Src	breast:	n/a	chr1:79377756-79377767

No.	Distal block	Cell Line	Cell type
1	chr1:79370114..79372345-chr1:79443530..79445892,2	K562	blood:
2	chr1:79370114..79372345-chr1:79443530..79445892,2	K562	blood:
3	chr1:79356582..79358429-chr1:79361774..79364231,2	MCF-7	breast:
4	chr1:79411840..79414575-chr1:79858123..79860401,2	K562	blood:
5	chr1:79410821..79413576-chr1:79414533..79416679,2	K562	blood:
6	chr1:79410821..79413576-chr1:79414533..79416679,2	K562	blood:

Variant related genes	Relation type
ELTD1	TF binding region

Extended variants
information (count: 3924 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:3924 , 50 per page) page: 1 2 3 4 5 6 7 ... 79

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1968956	chr1:79358827-79358828	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs200701720	chr1:79358831-79358832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs543980811	chr1:79358841-79358842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs527781737	chr1:79358847-79358848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs370509744	chr1:79358848-79358849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs372536774	chr1:79358863-79358864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs377247986	chr1:79358883-79358884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536276006	chr1:79358963-79358964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs34877750	chr1:79359016-79359017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562388713	chr1:79359037-79359038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574666112	chr1:79359043-79359044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185533074	chr1:79359082-79359083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373243937	chr1:79359123-79359124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs111633317	chr1:79359167-79359168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs79049580	chr1:79359203-79359204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs371113359	chr1:79359222-79359223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs1248480	chr1:79359239-79359240	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs545740239	chr1:79359240-79359241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557755429	chr1:79359315-79359316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12066056	chr1:79359359-79359360	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs191381918	chr1:79359379-79359380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs183587577	chr1:79359392-79359393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536865728	chr1:79359422-79359423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548569416	chr1:79359423-79359424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188522508	chr1:79359544-79359545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368079267	chr1:79359553-79359554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533923111	chr1:79359622-79359623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs146996273	chr1:79359628-79359629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539410992	chr1:79359647-79359648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572689701	chr1:79359652-79359653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576921178	chr1:79359665-79359666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs191947736	chr1:79359685-79359686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556912199	chr1:79359735-79359736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540321805	chr1:79359811-79359812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542029500	chr1:79359831-79359832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374087930	chr1:79359868-79359869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560155075	chr1:79359872-79359873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560037176	chr1:79359882-79359883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572340713	chr1:79359907-79359908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545795544	chr1:79359911-79359912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528859090	chr1:79359972-79359973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531427294	chr1:79360017-79360018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs377756446	chr1:79360086-79360087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561840715	chr1:79360129-79360130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs138197186	chr1:79360130-79360131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371232688	chr1:79360132-79360133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs77332496	chr1:79360163-79360164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs141806416	chr1:79360187-79360188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373829169	chr1:79360201-79360202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534266742	chr1:79360250-79360251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Pancreatic endocrine tumor	17639061	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:148 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:79348600-79405600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:79351000-79360800	Weak transcription	Left Ventricle	heart
3	chr1:79351000-79365600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:79351000-79367600	Weak transcription	Adipose Nuclei	Adipose
5	chr1:79358600-79367200	Weak transcription	HUVEC	blood vessel
6	chr1:79365600-79366600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:79366600-79380400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:79367200-79368000	Strong transcription	HUVEC	blood vessel
9	chr1:79367200-79377600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:79368000-79368200	Weak transcription	HUVEC	blood vessel
11	chr1:79368200-79369200	Strong transcription	HUVEC	blood vessel
12	chr1:79369200-79375000	Weak transcription	HUVEC	blood vessel
13	chr1:79371600-79404200	Weak transcription	Left Ventricle	heart
14	chr1:79374000-79383600	Weak transcription	NH-A	brain
15	chr1:79375000-79383600	Strong transcription	HUVEC	blood vessel
16	chr1:79376000-79376400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:79376000-79376400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:79376000-79376800	Enhancers	Muscle Satellite Cultured Cells	--
19	chr1:79376400-79377600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:79376800-79382800	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr1:79377400-79378200	Enhancers	Adipose Nuclei	Adipose
22	chr1:79377400-79380000	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr1:79377600-79377800	Active TSS	Monocytes-CD14+_RO01746	blood
24	chr1:79377600-79378200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:79377600-79378400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr1:79377600-79378400	Enhancers	Hela-S3	cervix
27	chr1:79377800-79378000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:79377800-79378000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr1:79378000-79378400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr1:79378000-79378400	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr1:79378000-79385000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr1:79378200-79382200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:79378400-79382400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr1:79378400-79382400	Weak transcription	Hela-S3	cervix
35	chr1:79378400-79383800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr1:79380000-79381200	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr1:79380400-79381200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr1:79381200-79382000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr1:79381200-79382600	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr1:79382000-79383800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr1:79382200-79383000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr1:79382400-79383200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr1:79382400-79383400	Enhancers	Hela-S3	cervix
44	chr1:79382800-79383600	Enhancers	Muscle Satellite Cultured Cells	--
45	chr1:79383000-79383600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr1:79383200-79383600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr1:79383400-79383800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr1:79383400-79383800	Active TSS	Fetal Stomach	stomach
49	chr1:79383400-79383800	Flanking Active TSS	Hela-S3	cervix
50	chr1:79383600-79383800	Enhancers	NH-A	brain

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