Variant report

Variant	esv3320026
Chromosome Location	chr1:58647273-58649227
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555420926	chr1:58647324-58647325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs373247794	chr1:58647341-58647342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs369437346	chr1:58647347-58647348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558452039	chr1:58647404-58647405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557786451	chr1:58647419-58647420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs369939992	chr1:58647440-58647441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs140418208	chr1:58647497-58647498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546029176	chr1:58647506-58647507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371225704	chr1:58647519-58647520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs145524350	chr1:58647535-58647536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188532769	chr1:58647594-58647595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192972832	chr1:58647650-58647651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113327096	chr1:58647661-58647662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538348	chr1:58647705-58647706	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs374412251	chr1:58647779-58647780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs527646738	chr1:58647789-58647790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs147726455	chr1:58647791-58647792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs142622293	chr1:58647801-58647802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113159435	chr1:58647808-58647809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539266	chr1:58647820-58647821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs550026368	chr1:58647831-58647832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569837291	chr1:58647906-58647907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529218717	chr1:58647909-58647910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs549219195	chr1:58647923-58647924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185605121	chr1:58647934-58647935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534660192	chr1:58647975-58647976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs150281145	chr1:58647986-58647987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574471651	chr1:58647989-58647990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs145705883	chr1:58648015-58648016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190574854	chr1:58648019-58648020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs117445610	chr1:58648100-58648101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536727673	chr1:58648141-58648142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs148916097	chr1:58648148-58648149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556361086	chr1:58648179-58648180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576199219	chr1:58648282-58648283	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs542129237	chr1:58648341-58648342	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs528617467	chr1:58648408-58648409	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs555980894	chr1:58648449-58648450	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs180808886	chr1:58648468-58648469	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs541447835	chr1:58648510-58648511	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs143662491	chr1:58648540-58648541	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs10889085	chr1:58648546-58648547	Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs183484479	chr1:58648608-58648609	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs543899741	chr1:58648681-58648682	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs563481895	chr1:58648715-58648716	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs529052064	chr1:58648746-58648747	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs115637284	chr1:58648762-58648763	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs566004943	chr1:58648764-58648765	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs60539856	chr1:58648781-58648782	Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs565135358	chr1:58648801-58648802	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
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
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
Meckel-Gruber syndrome	21572526	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	16616336	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	19490664	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
early-passage human iPS cells	21368824	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:58647200-58648200	Weak transcription	Liver	Liver
2	chr1:58648200-58648400	Active TSS	Liver	Liver
3	chr1:58648400-58649000	Flanking Active TSS	Liver	Liver
4	chr1:58649000-58650400	Enhancers	Liver	Liver
5	chr1:58649200-58650400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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