Variant report

Variant	esv3392202
Chromosome Location	chr1:57518414-57520712
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	chr1:57510764..57512729-chr1:57516872..57518806,2	MCF-7	breast:

Extended variants
information (count: 122 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:122 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181029867	chr1:57518422-57518423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs112629563	chr1:57518428-57518429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs528511879	chr1:57518436-57518437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs17451933	chr1:57518440-57518441	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs186333723	chr1:57518449-57518450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537203248	chr1:57518455-57518456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577678307	chr1:57518489-57518490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191182634	chr1:57518497-57518498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs543017492	chr1:57518499-57518500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567336719	chr1:57518571-57518572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564718227	chr1:57518578-57518579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576906472	chr1:57518583-57518584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs3768199	chr1:57518594-57518595	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs553132487	chr1:57518605-57518606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572734891	chr1:57518635-57518636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545028147	chr1:57518644-57518645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558570789	chr1:57518650-57518651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575496794	chr1:57518656-57518657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543960568	chr1:57518657-57518658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374668800	chr1:57518665-57518666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs146189178	chr1:57518709-57518710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542688452	chr1:57518768-57518769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372802451	chr1:57518770-57518771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs559451596	chr1:57518778-57518779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528475694	chr1:57518785-57518786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187581088	chr1:57518829-57518830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565400504	chr1:57518869-57518870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs72903382	chr1:57518926-57518927	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs139163348	chr1:57518976-57518977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12142135	chr1:57518992-57518993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530335840	chr1:57519046-57519047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567839392	chr1:57519049-57519050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536882014	chr1:57519060-57519061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543104592	chr1:57519081-57519082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142467499	chr1:57519082-57519083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs538209123	chr1:57519109-57519110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558532448	chr1:57519111-57519112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs72903384	chr1:57519146-57519147	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs373499569	chr1:57519189-57519190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537769482	chr1:57519225-57519226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554468370	chr1:57519268-57519269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs146813079	chr1:57519315-57519316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190784957	chr1:57519331-57519332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs139382631	chr1:57519333-57519334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs61390890	chr1:57519334-57519335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201825123	chr1:57519335-57519336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs199910506	chr1:57519337-57519338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs71051215	chr1:57519339-57519340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201832689	chr1:57519341-57519342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200126608	chr1:57519347-57519348	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
Breast cancer	22522925	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57496000-57533800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr1:57500800-57526000	Weak transcription	Fetal Intestine Small	intestine
3	chr1:57501200-57526200	Weak transcription	Fetal Intestine Large	intestine
4	chr1:57512600-57525400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:57512800-57532400	Weak transcription	Fetal Brain Female	brain
6	chr1:57514600-57523800	Weak transcription	Left Ventricle	heart
7	chr1:57518200-57529000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:57519600-57529200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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