Variant report

Variant	esv13013
Chromosome Location	chr9:1527196-1527745
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	chr9:1459862..1460804-chr9:1527712..1529112,4	MCF-7	breast:

Extended variants
information (count: 45 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149861498	chr9:1527198-1527199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs146872517	chr9:1527223-1527224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs10961908	chr9:1527227-1527228	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs10961909	chr9:1527237-1527238	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs556904975	chr9:1527249-1527250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs140561522	chr9:1527258-1527259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182932405	chr9:1527271-1527272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs59986644	chr9:1527305-1527306	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs527485802	chr9:1527306-1527307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12238138	chr9:1527313-1527314	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs561146414	chr9:1527337-1527338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529986396	chr9:1527350-1527351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs73380160	chr9:1527353-1527354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs569509484	chr9:1527357-1527358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535783026	chr9:1527375-1527376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532136477	chr9:1527380-1527381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555768397	chr9:1527387-1527388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187041464	chr9:1527413-1527414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs376879475	chr9:1527416-1527417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534871645	chr9:1527427-1527428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546236582	chr9:1527437-1527438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554768726	chr9:1527439-1527440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs10961910	chr9:1527453-1527454	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs191813042	chr9:1527466-1527467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560207996	chr9:1527470-1527471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs35235597	chr9:1527501-1527502	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs577168488	chr9:1527507-1527508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539861950	chr9:1527509-1527510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs57758668	chr9:1527512-1527513	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs34194374	chr9:1527527-1527528	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs542366585	chr9:1527534-1527535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34783915	chr9:1527549-1527550	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs35928011	chr9:1527572-1527573	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs368726247	chr9:1527581-1527582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563643424	chr9:1527587-1527588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs73641722	chr9:1527594-1527595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs73641723	chr9:1527595-1527596	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs559159804	chr9:1527635-1527636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182842860	chr9:1527648-1527649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs10961911	chr9:1527703-1527704	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs149165815	chr9:1527709-1527710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187491222	chr9:1527714-1527715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371639262	chr9:1527717-1527718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs386731567	chr9:1527738-1527739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs10810359	chr9:1527739-1527740	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
Lynch syndrome	18415027	CNVD
Retinoblastoma	21504564	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	22286061	CNVD
Williams-beuren syndrome	18553513	CNVD
Disorders of sex development	21048976	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
prenatal diagnosis	20453657	CNVD
Gastric cancer	16715143	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intracranial aneurysm	16715129	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Disorders of sex development	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Sudden cardiac death	19188705	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21952639	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	20531469	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:1523400-1527800	Weak transcription	Fetal Muscle Leg	muscle

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