Variant report

Variant	nsv546625
Chromosome Location	chr1:79387012-79417620
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	chr1:79409304-79409537	IMR90	lung:	n/a	chr1:79409399-79409408 chr1:79409398-79409409 chr1:79409397-79409408
4	CEBPB	chr1:79409258-79409472	A549	lung:	n/a	chr1:79409399-79409408 chr1:79409398-79409409 chr1:79409397-79409408
5	CEBPB	chr1:79409235-79409568	Hela-S3	cervix:	n/a	chr1:79409399-79409408 chr1:79409398-79409409 chr1:79409397-79409408
6	CEBPB	chr1:79405681-79405919	HepG2	liver:	n/a	n/a
7	CEBPB	chr1:79414890-79415047	HepG2	liver:	n/a	chr1:79414944-79414957 chr1:79414973-79414990
8	CEBPB	chr1:79409261-79409575	HepG2	liver:	n/a	chr1:79409399-79409408 chr1:79409398-79409409 chr1:79409397-79409408
9	CEBPB	chr1:79414781-79415272	Hela-S3	cervix:	n/a	chr1:79414944-79414957 chr1:79414973-79414990
10	CEBPB	chr1:79409333-79409445	K562	blood:	n/a	chr1:79409399-79409408 chr1:79409398-79409409 chr1:79409397-79409408
11	E2F4	chr1:79409879-79410355	MCF10A-Er-Src	breast:	n/a	n/a
12	EP300	chr1:79414914-79415277	Hela-S3	cervix:	n/a	n/a
13	FOS	chr1:79403650-79403873	MCF10A-Er-Src	breast:	n/a	n/a
14	GATA2	chr1:79415034-79415289	HUVEC	blood vessel:	n/a	chr1:79415105-79415114 chr1:79415070-79415086 chr1:79415117-79415125 chr1:79415102-79415112 chr1:79415098-79415119 chr1:79415192-79415204 chr1:79415105-79415112
15	GATA3	chr1:79416880-79417437	SK-N-SH	brain:	n/a	n/a
16	GATA3	chr1:79386972-79387051	SH-SY5Y	brain:	n/a	n/a
17	GATA3	chr1:79416972-79417460	SK-N-SH	brain:	n/a	n/a
18	JUN	chr1:79403872-79404028	K562	blood:	n/a	n/a
19	MAFK	chr1:79396730-79396773	HepG2	liver:	n/a	chr1:79396746-79396761
20	MYC	chr1:79417059-79417164	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr1:79386959-79387035	HUVEC	blood vessel:	n/a	n/a
22	POLR2A	chr1:79407255-79407367	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr1:79409612-79409812	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr1:79410488-79410490	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr1:79397530-79397556	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr1:79390976-79390991	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr1:79393553-79393709	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr1:79398310-79398346	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr1:79414095-79414398	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr1:79387043-79387055	HUVEC	blood vessel:	n/a	n/a
31	POLR2A	chr1:79403737-79404169	SK-N-MC	brain:	n/a	n/a
32	PRDM1	chr1:79415057-79415215	Hela-S3	cervix:	n/a	n/a
33	RCOR1	chr1:79415024-79415224	Hela-S3	cervix:	n/a	n/a
34	RFX5	chr1:79398613-79398674	Hela-S3	cervix:	n/a	n/a
35	RFX5	chr1:79414841-79415213	Hela-S3	cervix:	n/a	n/a
36	SMC3	chr1:79415079-79415257	Hela-S3	cervix:	n/a	n/a
37	STAT3	chr1:79403671-79403923	MCF10A-Er-Src	breast:	n/a	n/a
38	STAT3	chr1:79414906-79415214	Hela-S3	cervix:	n/a	n/a
39	STAT3	chr1:79393289-79393300	MCF10A-Er-Src	breast:	n/a	n/a
40	STAT3	chr1:79411354-79411837	MCF10A-Er-Src	breast:	n/a	n/a
41	TCF7L2	chr1:79414886-79415284	Hela-S3	cervix:	n/a	n/a
42	TCF7L2	chr1:79417022-79417378	Hela-S3	cervix:	n/a	n/a
43	TCF7L2	chr1:79409238-79410030	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:79410821..79413576-chr1:79414533..79416679,2	K562	blood:
2	chr1:79411840..79414575-chr1:79858123..79860401,2	K562	blood:
3	chr1:79410821..79413576-chr1:79414533..79416679,2	K562	blood:

Variant related genes	Relation type
ELTD1	TF binding region

Extended variants
information (count: 1249 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:1249 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1552569	chr1:79387012-79387013	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs565339469	chr1:79387014-79387015	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs539105048	chr1:79387019-79387020	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs567691357	chr1:79387023-79387024	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs368336530	chr1:79387037-79387038	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs551076402	chr1:79387096-79387097	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs570689570	chr1:79387098-79387099	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538468063	chr1:79387115-79387116	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147571372	chr1:79387164-79387165	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575126219	chr1:79387210-79387211	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs74948984	chr1:79387214-79387215	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189751136	chr1:79387216-79387217	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554170660	chr1:79387218-79387219	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181542302	chr1:79387226-79387227	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs3811440	chr1:79387242-79387243	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs538906421	chr1:79387244-79387245	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558309237	chr1:79387245-79387246	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576286236	chr1:79387270-79387271	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs117356835	chr1:79387275-79387276	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs199724820	chr1:79387290-79387291	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs185967608	chr1:79387320-79387321	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201814841	chr1:79387350-79387351	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371210164	chr1:79387351-79387352	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540976628	chr1:79387365-79387366	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374086188	chr1:79387386-79387387	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs367951491	chr1:79387389-79387390	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200376823	chr1:79387410-79387411	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375515170	chr1:79387455-79387456	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2130200	chr1:79387505-79387506	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369631588	chr1:79387514-79387515	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530154256	chr1:79387560-79387561	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532792267	chr1:79387630-79387631	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551047334	chr1:79387637-79387638	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569452976	chr1:79387663-79387664	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs531810778	chr1:79387675-79387676	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs6658041	chr1:79387676-79387677	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs79981272	chr1:79387680-79387681	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190819191	chr1:79387692-79387693	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554530431	chr1:79387833-79387834	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs566054603	chr1:79387840-79387841	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539873113	chr1:79387879-79387880	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs140377029	chr1:79387896-79387897	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576525890	chr1:79387951-79387952	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs113132948	chr1:79387970-79387971	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543553801	chr1:79387973-79387974	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs144275584	chr1:79387979-79387980	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573768796	chr1:79388001-79388002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs541291073	chr1:79388011-79388012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs78374133	chr1:79388063-79388064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532758089	chr1:79388071-79388072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:79348600-79405600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:79371600-79404200	Weak transcription	Left Ventricle	heart
3	chr1:79383800-79400000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:79384400-79409000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:79384600-79398600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:79384800-79402200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr1:79385400-79388000	Strong transcription	HUVEC	blood vessel
8	chr1:79388000-79390200	Weak transcription	HUVEC	blood vessel
9	chr1:79388600-79389000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:79390200-79398200	Strong transcription	HUVEC	blood vessel
11	chr1:79398200-79399600	Weak transcription	HUVEC	blood vessel
12	chr1:79398600-79398800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:79398800-79402400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:79399600-79405800	Strong transcription	HUVEC	blood vessel
15	chr1:79399600-79409200	Weak transcription	Adipose Nuclei	Adipose
16	chr1:79400000-79400200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:79400600-79402400	Weak transcription	Osteobl	bone
18	chr1:79402400-79403200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:79402400-79403600	Strong transcription	Osteobl	bone
20	chr1:79403200-79405000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:79403600-79405200	Weak transcription	Osteobl	bone
22	chr1:79405800-79409800	Weak transcription	HUVEC	blood vessel
23	chr1:79409000-79409800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:79409000-79410200	Enhancers	Hela-S3	cervix
25	chr1:79409200-79409600	Enhancers	Adipose Nuclei	Adipose
26	chr1:79409800-79412200	Strong transcription	HUVEC	blood vessel
27	chr1:79410200-79414800	Weak transcription	Hela-S3	cervix
28	chr1:79412200-79418400	Weak transcription	HUVEC	blood vessel
29	chr1:79413000-79418400	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr1:79414800-79415000	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr1:79414800-79419400	Enhancers	Hela-S3	cervix
32	chr1:79416200-79417000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr1:79416600-79417000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr1:79417000-79431400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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