Variant report

Variant	esv7088
Chromosome Location	chr2:133647038-133648263
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	chr2:133304259..133305229-chr2:133647133..133647703,2	MCF-7	breast:

Extended variants
information (count: 48 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377304073	chr2:133647051-133647052	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs141764961	chr2:133647124-133647125	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs567263728	chr2:133647128-133647129	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs13402624	chr2:133647163-133647164	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs150572898	chr2:133647164-133647165	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs571375587	chr2:133647191-133647192	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559921325	chr2:133647193-133647194	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571978793	chr2:133647215-133647216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572351484	chr2:133647303-133647304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542503927	chr2:133647364-133647365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555374931	chr2:133647366-133647367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112754207	chr2:133647371-133647372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573675831	chr2:133647375-133647376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540856002	chr2:133647408-133647409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs114580213	chr2:133647413-133647414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542372211	chr2:133647436-133647437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185282087	chr2:133647471-133647472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189193132	chr2:133647508-133647509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568956339	chr2:133647514-133647515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs72992883	chr2:133647515-133647516	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs181888904	chr2:133647550-133647551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566256766	chr2:133647551-133647552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186324128	chr2:133647599-133647600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138585988	chr2:133647600-133647601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571281219	chr2:133647611-133647612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538460419	chr2:133647617-133647618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs115489225	chr2:133647637-133647638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565720839	chr2:133647656-133647657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191121803	chr2:133647704-133647705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554415106	chr2:133647706-133647707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs72614493	chr2:133647709-133647710	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs544158057	chr2:133647724-133647725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs112207740	chr2:133647738-133647739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs570208319	chr2:133647746-133647747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs114701370	chr2:133647791-133647792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs180690521	chr2:133647893-133647894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185998312	chr2:133647934-133647935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs77278830	chr2:133647965-133647966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191404774	chr2:133647966-133647967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572657408	chr2:133647974-133647975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11354482	chr2:133647978-133647979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs397872766	chr2:133647985-133647986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543365083	chr2:133648064-133648065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561532035	chr2:133648068-133648069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs1348960	chr2:133648157-133648158	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs375083776	chr2:133648205-133648206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183115280	chr2:133648247-133648248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549703856	chr2:133648251-133648252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Developmental delay	21147756	CNVD
Mental retardation	17621639	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	21509527	CNVD
Mental retardation	17124404	CNVD
Colorectal cancer	20459617	CNVD
Neuroticism	17667963	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	22522925	CNVD
Oral cancer	21386901	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:133645400-133649000	Weak transcription	Left Ventricle	heart
2	chr2:133645800-133652400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:133646600-133647200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:133647200-133649600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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