Variant report

Variant	esv1992620
Chromosome Location	chr9:888481-888925
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	chr9:887794..889918-chr9:1005357..1008295,2	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13290639	chr9:888491-888492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs139451893	chr9:888505-888506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375278038	chr9:888510-888511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs368636419	chr9:888519-888520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs540466954	chr9:888520-888521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs559143971	chr9:888561-888562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191223888	chr9:888607-888608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs72699258	chr9:888608-888609	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs145174961	chr9:888612-888613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs144926622	chr9:888621-888622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550870145	chr9:888633-888634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570804487	chr9:888643-888644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533148397	chr9:888669-888670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs149193022	chr9:888697-888698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181870043	chr9:888702-888703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186237894	chr9:888718-888719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555615612	chr9:888726-888727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535664216	chr9:888751-888752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs377434256	chr9:888752-888753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190700742	chr9:888754-888755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs143327711	chr9:888767-888768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs183319466	chr9:888770-888771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs577926554	chr9:888771-888772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs188280327	chr9:888778-888779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs58861585	chr9:888782-888783	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs533545693	chr9:888808-888809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553764171	chr9:888844-888845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs151330924	chr9:888856-888857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541892346	chr9:888907-888908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

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
Pancreatic ductal adenocarcinoma	19077451	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
Cancer	21272361	CNVD
Non-small cell lung cancer	16651412	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:883600-894200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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