Variant report

Variant	nsv546517
Chromosome Location	chr1:72756049-72811460
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	chr1:72811065-72811328	IMR90	lung:	n/a	n/a
2	CEBPB	chr1:72762099-72762426	Hela-S3	cervix:	n/a	n/a
3	CTCF	chr1:72788280-72788430	SAEC	small airway:	n/a	n/a
4	CTCF	chr1:72788357-72788495	MCF-7	breast:	n/a	n/a
5	CTCF	chr1:72788343-72788498	NHEK	skin:	n/a	n/a
6	CTCF	chr1:72788394-72788437	Pancreas_OC	pancreas:	n/a	n/a
7	CTCF	chr1:72764613-72764713	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr1:72788420-72788570	HMEC	breast:	n/a	n/a
9	CTCF	chr1:72788357-72788474	MCF-7	breast:	n/a	n/a
10	CTCF	chr1:72764591-72764610	HepG2	liver:	n/a	n/a
11	CTCF	chr1:72764667-72764718	LNCaP	prostate:	n/a	n/a
12	CTCF	chr1:72788366-72788461	GM19239	blood:	n/a	n/a
13	CTCF	chr1:72788280-72788430	HMEC	breast:	n/a	n/a
14	CTCF	chr1:72788320-72788470	HepG2	liver:	n/a	n/a
15	CTCF	chr1:72764612-72764712	HepG2	liver:	n/a	n/a
16	CTCF	chr1:72764636-72764722	MCF-7	breast:	n/a	n/a
17	CTCF	chr1:72788380-72788530	RPTEC	kidney:	n/a	n/a
18	CTCF	chr1:72788380-72788530	HEEpiC	esophagus:	n/a	n/a
19	CTCF	chr1:72788320-72788470	RPTEC	kidney:	n/a	n/a
20	CTCF	chr1:72788360-72788510	SAEC	small airway:	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	chr1:72807508-72807642	MCF10A-Er-Src	breast:	n/a	n/a
26	FOS	chr1:72762452-72762725	MCF10A-Er-Src	breast:	n/a	chr1:72762565-72762574 chr1:72762565-72762572 chr1:72762564-72762574 chr1:72762564-72762574
27	GATA2	chr1:72762098-72762619	SH-SY5Y	brain:	n/a	n/a
28	GATA3	chr1:72762060-72762709	SK-N-SH	brain:	n/a	n/a
29	GATA3	chr1:72762039-72762726	SH-SY5Y	brain:	n/a	n/a
30	GATA3	chr1:72761978-72762789	SK-N-SH	brain:	n/a	n/a
31	MAFF	chr1:72768956-72769184	HepG2	liver:	n/a	chr1:72769041-72769059
32	MAFF	chr1:72758369-72758595	HepG2	liver:	n/a	chr1:72758439-72758457
33	MAFF	chr1:72758320-72758517	K562	blood:	n/a	chr1:72758439-72758457
34	MAFK	chr1:72758276-72758594	IMR90	lung:	n/a	chr1:72758440-72758455
35	MAFK	chr1:72758406-72758564	HepG2	liver:	n/a	chr1:72758440-72758455
36	MAFK	chr1:72758307-72758596	HepG2	liver:	n/a	chr1:72758440-72758455
37	MAFK	chr1:72758355-72758555	K562	blood:	n/a	chr1:72758440-72758455
38	MAFK	chr1:72766205-72766217	H1-hESC	embryonic stem cell:	n/a	n/a
39	MAFK	chr1:72768954-72769154	HepG2	liver:	n/a	chr1:72769042-72769056 chr1:72769043-72769058 chr1:72769044-72769064 chr1:72769044-72769055 chr1:72769044-72769055
40	MAFK	chr1:72768925-72769194	IMR90	lung:	n/a	chr1:72769042-72769056 chr1:72769043-72769058 chr1:72769044-72769064 chr1:72769044-72769055 chr1:72769044-72769055
41	MAFK	chr1:72807440-72807731	IMR90	lung:	n/a	n/a
42	MAFK	chr1:72768938-72769209	HepG2	liver:	n/a	chr1:72769042-72769056 chr1:72769043-72769058 chr1:72769044-72769064 chr1:72769044-72769055 chr1:72769044-72769055
43	PBX3	chr1:72762067-72762577	SK-N-SH	brain:	n/a	n/a
44	POLR2A	chr1:72770426-72770465	HUVEC	blood vessel:	n/a	n/a
45	POLR2A	chr1:72759059-72759131	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr1:72760584-72760710	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr1:72798789-72798870	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr1:72781174-72781265	ProgFib	skin:	n/a	n/a
49	POLR2A	chr1:72786325-72786407	ProgFib	skin:	n/a	n/a
50	SMC3	chr1:72788302-72788496	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
RPL31P12	TF binding region

Extended variants
information (count: 110 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:110 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17526367	chr1:72756049-72756050	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs527378781	chr1:72756065-72756066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547242651	chr1:72756069-72756070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs567091027	chr1:72756072-72756073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs2568950	chr1:72756099-72756100	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs191425154	chr1:72756145-72756146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs569526117	chr1:72756161-72756162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs71653514	chr1:72756295-72756296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs531863519	chr1:72756312-72756313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs183208297	chr1:72756316-72756317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs557858775	chr1:72756327-72756328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs199723277	chr1:72756355-72756356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs578075148	chr1:72756370-72756371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs573279485	chr1:72762013-72762014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs80109987	chr1:72762040-72762041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs182348893	chr1:72762053-72762054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs575647607	chr1:72762081-72762082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs185684012	chr1:72762125-72762126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs34581627	chr1:72762156-72762157	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs541417645	chr1:72762158-72762159	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs141831036	chr1:72762165-72762166	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs2568955	chr1:72762169-72762170	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs190149915	chr1:72762235-72762236	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs370824110	chr1:72762285-72762286	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs563338419	chr1:72762339-72762340	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs528864764	chr1:72762347-72762348	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs548690839	chr1:72762366-72762367	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs562647200	chr1:72762378-72762379	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs531282849	chr1:72762386-72762387	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs377005595	chr1:72762388-72762389	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs374606114	chr1:72762405-72762406	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs551425499	chr1:72762439-72762440	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs200008217	chr1:72762448-72762449	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs201017364	chr1:72762450-72762451	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs79030648	chr1:72762451-72762452	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs66630798	chr1:72762452-72762453	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs5775114	chr1:72762453-72762454	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs188956267	chr1:72762454-72762455	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs181803863	chr1:72762472-72762473	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs539993753	chr1:72762507-72762508	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs547329380	chr1:72762511-72762512	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs374639891	chr1:72762512-72762513	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs535899158	chr1:72762535-72762536	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs555454043	chr1:72762540-72762541	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs185566991	chr1:72762582-72762583	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs115884978	chr1:72762601-72762602	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs537968893	chr1:72762630-72762631	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs558202812	chr1:72762643-72762644	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs146282213	chr1:72762697-72762698	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs539996843	chr1:72762708-72762709	Active TSS	TF binding region	1 gene(s)	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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:72754800-72756400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr1:72755400-72756200	Enhancers	Thymus	Thymus
3	chr1:72755800-72756200	Enhancers	Dnd41	blood
4	chr1:72755800-72756400	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr1:72762000-72762200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:72762200-72762800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:72762800-72763000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:72763200-72763600	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr1:72763200-72764000	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr1:72788200-72788800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr1:72795600-72796000	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr1:72811400-72813400	Weak transcription	Pancreatic Islets	Pancreatic Islet

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