Variant report

Variant	nsv947431
Chromosome Location	chr1:72753521-72809673
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	chr1:72762099-72762426	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr1:72755092-72755159	HepG2	liver:	n/a	chr1:72755122-72755131 chr1:72755120-72755131
3	CTCF	chr1:72788420-72788570	HMEC	breast:	n/a	n/a
4	CTCF	chr1:72764613-72764713	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr1:72788320-72788470	RPTEC	kidney:	n/a	n/a
6	CTCF	chr1:72764612-72764712	HepG2	liver:	n/a	n/a
7	CTCF	chr1:72788366-72788461	GM19239	blood:	n/a	n/a
8	CTCF	chr1:72764636-72764722	MCF-7	breast:	n/a	n/a
9	CTCF	chr1:72788380-72788530	HEEpiC	esophagus:	n/a	n/a
10	CTCF	chr1:72788320-72788470	HepG2	liver:	n/a	n/a
11	CTCF	chr1:72788343-72788498	NHEK	skin:	n/a	n/a
12	CTCF	chr1:72788394-72788437	Pancreas_OC	pancreas:	n/a	n/a
13	CTCF	chr1:72788380-72788530	RPTEC	kidney:	n/a	n/a
14	CTCF	chr1:72788360-72788510	SAEC	small airway:	n/a	n/a
15	CTCF	chr1:72764591-72764610	HepG2	liver:	n/a	n/a
16	CTCF	chr1:72764667-72764718	LNCaP	prostate:	n/a	n/a
17	CTCF	chr1:72788357-72788495	MCF-7	breast:	n/a	n/a
18	CTCF	chr1:72788280-72788430	SAEC	small airway:	n/a	n/a
19	CTCF	chr1:72788280-72788430	HMEC	breast:	n/a	n/a
20	CTCF	chr1:72788357-72788474	MCF-7	breast:	n/a	n/a
21	CTCF	chr1:72764520-72764670	HepG2	liver:	n/a	n/a
22	E2F4	chr1:72807595-72807604	MCF10A-Er-Src	breast:	n/a	n/a
23	EP300	chr1:72761930-72762734	SK-N-SH	brain:	n/a	chr1:72762565-72762574
24	EP300	chr1:72762099-72762511	SK-N-SH_RA	brain:	n/a	n/a
25	FOS	chr1:72762452-72762725	MCF10A-Er-Src	breast:	n/a	chr1:72762565-72762574 chr1:72762565-72762572 chr1:72762564-72762574 chr1:72762564-72762574
26	FOS	chr1:72807508-72807642	MCF10A-Er-Src	breast:	n/a	n/a
27	GATA2	chr1:72762098-72762619	SH-SY5Y	brain:	n/a	n/a
28	GATA3	chr1:72761978-72762789	SK-N-SH	brain:	n/a	n/a
29	GATA3	chr1:72753359-72753522	SH-SY5Y	brain:	n/a	chr1:72753360-72753367 chr1:72753360-72753367 chr1:72753360-72753367
30	GATA3	chr1:72762039-72762726	SH-SY5Y	brain:	n/a	n/a
31	GATA3	chr1:72762060-72762709	SK-N-SH	brain:	n/a	n/a
32	MAFF	chr1:72768956-72769184	HepG2	liver:	n/a	chr1:72769041-72769059
33	MAFF	chr1:72758320-72758517	K562	blood:	n/a	chr1:72758439-72758457
34	MAFF	chr1:72758369-72758595	HepG2	liver:	n/a	chr1:72758439-72758457
35	MAFK	chr1:72768938-72769209	HepG2	liver:	n/a	chr1:72769042-72769056 chr1:72769043-72769058 chr1:72769044-72769064 chr1:72769044-72769055 chr1:72769044-72769055
36	MAFK	chr1:72758307-72758596	HepG2	liver:	n/a	chr1:72758440-72758455
37	MAFK	chr1:72807440-72807731	IMR90	lung:	n/a	n/a
38	MAFK	chr1:72768925-72769194	IMR90	lung:	n/a	chr1:72769042-72769056 chr1:72769043-72769058 chr1:72769044-72769064 chr1:72769044-72769055 chr1:72769044-72769055
39	MAFK	chr1:72758355-72758555	K562	blood:	n/a	chr1:72758440-72758455
40	MAFK	chr1:72768954-72769154	HepG2	liver:	n/a	chr1:72769042-72769056 chr1:72769043-72769058 chr1:72769044-72769064 chr1:72769044-72769055 chr1:72769044-72769055
41	MAFK	chr1:72766205-72766217	H1-hESC	embryonic stem cell:	n/a	n/a
42	MAFK	chr1:72758406-72758564	HepG2	liver:	n/a	chr1:72758440-72758455
43	MAFK	chr1:72758276-72758594	IMR90	lung:	n/a	chr1:72758440-72758455
44	PBX3	chr1:72762067-72762577	SK-N-SH	brain:	n/a	n/a
45	POLR2A	chr1:72786325-72786407	ProgFib	skin:	n/a	n/a
46	POLR2A	chr1:72781174-72781265	ProgFib	skin:	n/a	n/a
47	POLR2A	chr1:72770426-72770465	HUVEC	blood vessel:	n/a	n/a
48	POLR2A	chr1:72798789-72798870	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr1:72760584-72760710	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr1:72759059-72759131	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
RPL31P12	TF binding region

Extended variants
information (count: 212 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:212 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535155171	chr1:72753559-72753560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs555017442	chr1:72753582-72753583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs574707527	chr1:72753641-72753642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs543571004	chr1:72753653-72753654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs34572410	chr1:72753683-72753684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs532045275	chr1:72753705-72753706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs189006963	chr1:72753710-72753711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs550076925	chr1:72753761-72753762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs577465984	chr1:72753785-72753786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs545919345	chr1:72753809-72753810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs2613497	chr1:72753825-72753826	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs570562952	chr1:72753889-72753890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs528445443	chr1:72753921-72753922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs547608310	chr1:72753926-72753927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs548713326	chr1:72753937-72753938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs181687356	chr1:72753938-72753939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs2568954	chr1:72753939-72753940	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs12751018	chr1:72753940-72753941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs2568953	chr1:72753956-72753957	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs368193356	chr1:72753961-72753962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs554290822	chr1:72754015-72754016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs34338118	chr1:72754120-72754121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs2815764	chr1:72754123-72754124	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs533239737	chr1:72754144-72754145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs111955339	chr1:72754157-72754158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs184635733	chr1:72754189-72754190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs138505965	chr1:72754309-72754310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs61765651	chr1:72754314-72754315	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs189882821	chr1:72754378-72754379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs180685750	chr1:72754379-72754380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs557523800	chr1:72754402-72754403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs114337291	chr1:72754416-72754417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs147387648	chr1:72754432-72754433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs186074760	chr1:72754455-72754456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs573281457	chr1:72754538-72754539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs542197299	chr1:72754588-72754589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs139000047	chr1:72754589-72754590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs200099221	chr1:72754614-72754615	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs531015968	chr1:72754647-72754648	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs544111643	chr1:72754650-72754651	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs564285272	chr1:72754738-72754739	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs532954600	chr1:72754749-72754750	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs369291618	chr1:72754764-72754765	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs566610315	chr1:72754769-72754770	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs2613496	chr1:72754788-72754789	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs548568029	chr1:72754822-72754823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs144185001	chr1:72754833-72754834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs568653186	chr1:72754870-72754871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs537533678	chr1:72754875-72754876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs557302603	chr1:72754892-72754893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ewing''s sarcoma	17952124	CNVD
Pleomorphic liposarcoma	18784837	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
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:72751200-72755400	Weak transcription	Thymus	Thymus
2	chr1:72751600-72754400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr1:72751800-72754200	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr1:72751800-72754400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:72751800-72755200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:72752000-72755800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:72752400-72754400	Weak transcription	Dnd41	blood
8	chr1:72752400-72754800	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr1:72752600-72754800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:72754200-72754600	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr1:72754200-72755200	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr1:72754400-72755000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:72754400-72755400	Enhancers	Dnd41	blood
14	chr1:72754400-72755600	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr1:72754600-72754800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr1:72754800-72755200	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr1:72754800-72755800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:72754800-72756400	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr1:72755200-72755800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:72755200-72755800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr1:72755400-72755800	Flanking Active TSS	Dnd41	blood
22	chr1:72755400-72756200	Enhancers	Thymus	Thymus
23	chr1:72755800-72756000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:72755800-72756200	Enhancers	Dnd41	blood
25	chr1:72755800-72756400	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr1:72762000-72762200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:72762200-72762800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr1:72762800-72763000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr1:72763200-72763600	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr1:72763200-72764000	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr1:72788200-72788800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr1:72795600-72796000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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