Variant report

Variant	esv1802478
Chromosome Location	chr1:72762522-72812732
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	chr1:72812174-72812494	HepG2	liver:	n/a	chr1:72812301-72812312 chr1:72812343-72812354
3	CEBPB	chr1:72812222-72812489	A549	lung:	n/a	chr1:72812301-72812312 chr1:72812343-72812354
4	CEBPB	chr1:72812260-72812424	H1-hESC	embryonic stem cell:	n/a	chr1:72812301-72812312 chr1:72812343-72812354
5	CEBPB	chr1:72812157-72812489	Hela-S3	cervix:	n/a	chr1:72812301-72812312 chr1:72812343-72812354
6	CTCF	chr1:72788320-72788470	HepG2	liver:	n/a	n/a
7	CTCF	chr1:72788280-72788430	HMEC	breast:	n/a	n/a
8	CTCF	chr1:72788366-72788461	GM19239	blood:	n/a	n/a
9	CTCF	chr1:72764612-72764712	HepG2	liver:	n/a	n/a
10	CTCF	chr1:72764636-72764722	MCF-7	breast:	n/a	n/a
11	CTCF	chr1:72764667-72764718	LNCaP	prostate:	n/a	n/a
12	CTCF	chr1:72788343-72788498	NHEK	skin:	n/a	n/a
13	CTCF	chr1:72788394-72788437	Pancreas_OC	pancreas:	n/a	n/a
14	CTCF	chr1:72788380-72788530	RPTEC	kidney:	n/a	n/a
15	CTCF	chr1:72788380-72788530	HEEpiC	esophagus:	n/a	n/a
16	CTCF	chr1:72788320-72788470	RPTEC	kidney:	n/a	n/a
17	CTCF	chr1:72788280-72788430	SAEC	small airway:	n/a	n/a
18	CTCF	chr1:72788357-72788495	MCF-7	breast:	n/a	n/a
19	CTCF	chr1:72788357-72788474	MCF-7	breast:	n/a	n/a
20	CTCF	chr1:72764591-72764610	HepG2	liver:	n/a	n/a
21	CTCF	chr1:72788420-72788570	HMEC	breast:	n/a	n/a
22	CTCF	chr1:72764613-72764713	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr1:72764520-72764670	HepG2	liver:	n/a	n/a
24	CTCF	chr1:72788360-72788510	SAEC	small airway:	n/a	n/a
25	E2F4	chr1:72807595-72807604	MCF10A-Er-Src	breast:	n/a	n/a
26	EP300	chr1:72761930-72762734	SK-N-SH	brain:	n/a	chr1:72762565-72762574
27	FOS	chr1:72807508-72807642	MCF10A-Er-Src	breast:	n/a	n/a
28	FOS	chr1:72762452-72762725	MCF10A-Er-Src	breast:	n/a	chr1:72762565-72762574 chr1:72762565-72762572 chr1:72762564-72762574 chr1:72762564-72762574
29	FOS	chr1:72812262-72812450	MCF10A-Er-Src	breast:	n/a	n/a
30	FOS	chr1:72812183-72812360	MCF10A-Er-Src	breast:	n/a	n/a
31	FOS	chr1:72812199-72812399	MCF10A-Er-Src	breast:	n/a	n/a
32	FOS	chr1:72812311-72812313	MCF10A-Er-Src	breast:	n/a	n/a
33	GATA2	chr1:72762098-72762619	SH-SY5Y	brain:	n/a	n/a
34	GATA3	chr1:72761978-72762789	SK-N-SH	brain:	n/a	n/a
35	GATA3	chr1:72762039-72762726	SH-SY5Y	brain:	n/a	n/a
36	GATA3	chr1:72762060-72762709	SK-N-SH	brain:	n/a	n/a
37	MAFF	chr1:72768956-72769184	HepG2	liver:	n/a	chr1:72769041-72769059
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	chr1:72766205-72766217	H1-hESC	embryonic stem cell:	n/a	n/a
40	MAFK	chr1:72807440-72807731	IMR90	lung:	n/a	n/a
41	MAFK	chr1:72768938-72769209	HepG2	liver:	n/a	chr1:72769042-72769056 chr1:72769043-72769058 chr1:72769044-72769064 chr1:72769044-72769055 chr1:72769044-72769055
42	MAFK	chr1:72768954-72769154	HepG2	liver:	n/a	chr1:72769042-72769056 chr1:72769043-72769058 chr1:72769044-72769064 chr1:72769044-72769055 chr1:72769044-72769055
43	MYC	chr1:72812238-72812420	MCF10A-Er-Src	breast:	n/a	chr1:72812346-72812355
44	MYC	chr1:72812153-72812462	MCF10A-Er-Src	breast:	n/a	chr1:72812346-72812355
45	PBX3	chr1:72762067-72762577	SK-N-SH	brain:	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	chr1:72786325-72786407	ProgFib	skin:	n/a	n/a
49	POLR2A	chr1:72798789-72798870	MCF10A-Er-Src	breast:	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: 106 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:106 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535899158	chr1:72762535-72762536	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs555454043	chr1:72762540-72762541	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs185566991	chr1:72762582-72762583	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs115884978	chr1:72762601-72762602	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs537968893	chr1:72762630-72762631	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs558202812	chr1:72762643-72762644	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs146282213	chr1:72762697-72762698	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs539996843	chr1:72762708-72762709	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs553689682	chr1:72762730-72762731	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs139265210	chr1:72762792-72762793	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs74548932	chr1:72762800-72762801	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs12563967	chr1:72762847-72762848	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs111534221	chr1:72762858-72762859	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs116154446	chr1:72762902-72762903	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs144107500	chr1:72762913-72762914	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs113654874	chr1:72762914-72762915	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs533610025	chr1:72762929-72762930	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs547213872	chr1:72762934-72762935	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs554054656	chr1:72762952-72762953	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs181425820	chr1:72762972-72762973	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs77708685	chr1:72763205-72763206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs376669547	chr1:72763236-72763237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs571395987	chr1:72763267-72763268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs533781548	chr1:72763283-72763284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs553525940	chr1:72763285-72763286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs113258216	chr1:72763324-72763325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs542580401	chr1:72763344-72763345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs557490655	chr1:72763367-72763368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs575958476	chr1:72763368-72763369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs544981593	chr1:72763401-72763402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs370842520	chr1:72763426-72763427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs565020781	chr1:72763431-72763432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs527361029	chr1:72763433-72763434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs9425087	chr1:72763457-72763458	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs560684366	chr1:72763496-72763497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs528446472	chr1:72763547-72763548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs185274447	chr1:72763553-72763554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs548776522	chr1:72763560-72763561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs569493449	chr1:72763579-72763580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs189980123	chr1:72763588-72763589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs531648040	chr1:72763591-72763592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs183962072	chr1:72763596-72763597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs541758133	chr1:72763604-72763605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs79099578	chr1:72763614-72763615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs571434679	chr1:72763675-72763676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs534010454	chr1:72763699-72763700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs547449867	chr1:72763738-72763739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs188856195	chr1:72763912-72763913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs530366366	chr1:72763915-72763916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs542319663	chr1:72763918-72763919	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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:72762200-72762800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:72762800-72763000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:72763200-72763600	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr1:72763200-72764000	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr1:72788200-72788800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr1:72795600-72796000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr1:72811400-72813400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr1:72812000-72812400	Enhancers	Primary neutrophils fromperipheralblood	blood

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