Variant report

Variant	esv3420412
Chromosome Location	chr1:58742064-58746762
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:58740800..58743267-chr1:58744921..58746475,2	K562	blood:
2	chr1:58740800..58743267-chr1:58744921..58746475,2	K562	blood:

Extended variants
information (count: 146 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:146 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375080046	chr1:58742123-58742124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs689231	chr1:58742150-58742151	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs148750118	chr1:58742212-58742213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs61781861	chr1:58742215-58742216	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs534721077	chr1:58742253-58742254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs115609161	chr1:58742264-58742265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189152428	chr1:58742277-58742278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs61781879	chr1:58742312-58742313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547481496	chr1:58742314-58742315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562933845	chr1:58742327-58742328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375208950	chr1:58742335-58742336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576685035	chr1:58742386-58742387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542112299	chr1:58742411-58742412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs142155468	chr1:58742422-58742423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181817237	chr1:58742439-58742440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs547371107	chr1:58742467-58742468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs496009	chr1:58742470-58742471	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs533258578	chr1:58742474-58742475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549957006	chr1:58742490-58742491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569701693	chr1:58742554-58742555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535761201	chr1:58742592-58742593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369194187	chr1:58742709-58742710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185026259	chr1:58742716-58742717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189164760	chr1:58742720-58742721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs572912256	chr1:58742735-58742736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534628040	chr1:58742742-58742743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568394372	chr1:58742774-58742775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181053813	chr1:58742798-58742799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529273747	chr1:58742805-58742806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536709277	chr1:58742860-58742861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs665854	chr1:58742914-58742915	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs576533245	chr1:58742982-58742983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191248279	chr1:58742991-58742992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs570169597	chr1:58743002-58743003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539048464	chr1:58743003-58743004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181273915	chr1:58743012-58743013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572382915	chr1:58743021-58743022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs555786998	chr1:58743037-58743038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564098448	chr1:58743038-58743039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs151205473	chr1:58743044-58743045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533468358	chr1:58743096-58743097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543522928	chr1:58743103-58743104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs17117233	chr1:58743154-58743155	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs529108705	chr1:58743200-58743201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs116723883	chr1:58743240-58743241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs74706237	chr1:58743330-58743331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185736543	chr1:58743338-58743339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551408196	chr1:58743376-58743377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534019488	chr1:58743392-58743393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs668066	chr1:58743411-58743412	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:93)

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
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:58724000-58759600	Weak transcription	Ovary	ovary
2	chr1:58741800-58749600	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr1:58745200-58745400	Weak transcription	Lung	lung
4	chr1:58745400-58745800	ZNF genes & repeats	Lung	lung

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