Variant report

Variant	esv3344758
Chromosome Location	chr1:56830514-56836162
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 76 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12564902	chr1:56830568-56830569	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs146203725	chr1:56830570-56830571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs137947501	chr1:56830591-56830592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188458493	chr1:56830592-56830593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs77258809	chr1:56830696-56830697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551763064	chr1:56830741-56830742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs566882415	chr1:56830768-56830769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533908589	chr1:56830771-56830772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554120625	chr1:56830848-56830849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs540815591	chr1:56830861-56830862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs563984150	chr1:56830864-56830865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs533034576	chr1:56830893-56830894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs77698485	chr1:56830894-56830895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs549511065	chr1:56830906-56830907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs567717045	chr1:56830936-56830937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs538340419	chr1:56831048-56831049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531581706	chr1:56831062-56831063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548569604	chr1:56831145-56831146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112685239	chr1:56831308-56831309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568527077	chr1:56831316-56831317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs527827674	chr1:56831378-56831379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548008236	chr1:56831379-56831380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557234494	chr1:56831524-56831525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201359343	chr1:56831877-56831878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201455561	chr1:56833625-56833626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571084965	chr1:56833795-56833796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs57696070	chr1:56833921-56833922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs59994260	chr1:56833925-56833926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs199598632	chr1:56833984-56833985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs56706388	chr1:56833993-56833994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs58880651	chr1:56834012-56834013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs57001831	chr1:56834187-56834188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs565563628	chr1:56834434-56834435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558739133	chr1:56834454-56834455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569603535	chr1:56834457-56834458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530637082	chr1:56834720-56834721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs11580735	chr1:56834803-56834804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs377751578	chr1:56834924-56834925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs58270149	chr1:56834942-56834943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs397955114	chr1:56834966-56834967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540037739	chr1:56835053-56835054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575332557	chr1:56835066-56835067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs144670060	chr1:56835080-56835081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570331222	chr1:56835081-56835082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs533654649	chr1:56835090-56835091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs138620307	chr1:56835109-56835110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181475177	chr1:56835146-56835147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs114487189	chr1:56835218-56835219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs141327581	chr1:56835253-56835254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs75876500	chr1:56835290-56835291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	19490664	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56825400-56839000	Weak transcription	Psoas Muscle	Psoas
2	chr1:56829800-56830800	Weak transcription	HepG2	liver
3	chr1:56830800-56831000	Enhancers	HepG2	liver
4	chr1:56835000-56836200	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr1:56835400-56836000	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr1:56835400-56836000	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr1:56835400-56836200	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr1:56835600-56836000	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr1:56835600-56836000	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr1:56835600-56836000	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr1:56835600-56836200	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr1:56835600-56837000	Enhancers	H9 Cell Line	embryonic stem cell
13	chr1:56835600-56837200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr1:56835800-56837000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:56835800-56837200	Enhancers	H1 Cell Line	embryonic stem cell
16	chr1:56835800-56837200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr1:56835800-56837200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:56836000-56836200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr1:56836000-56836200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr1:56836000-56836200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr1:56836000-56836600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr1:56836000-56836800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr1:56836000-56836800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chr1:56836000-56836800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr1:56836000-56837000	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr1:56836000-56837200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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