Variant report

Variant	esv2421362
Chromosome Location	chr9:1446987-1450428
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 194 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:194 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569527246	chr9:1446988-1446989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs10122783	chr9:1447011-1447012	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs560521260	chr9:1447032-1447033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184608781	chr9:1447046-1447047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190112691	chr9:1447053-1447054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs181783898	chr9:1447055-1447056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554330316	chr9:1447065-1447066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186520818	chr9:1447080-1447081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs9406478	chr9:1447107-1447108	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs555319096	chr9:1447120-1447121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs149813770	chr9:1447161-1447162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537781888	chr9:1447162-1447163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557295633	chr9:1447166-1447167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531078218	chr9:1447183-1447184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs114206007	chr9:1447185-1447186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539892492	chr9:1447196-1447197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560200426	chr9:1447218-1447219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573693360	chr9:1447250-1447251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535077612	chr9:1447274-1447275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs145885932	chr9:1447294-1447295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs373722527	chr9:1447310-1447311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191427421	chr9:1447318-1447319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs546449375	chr9:1447335-1447336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532018434	chr9:1447339-1447340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs552121493	chr9:1447384-1447385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs370401777	chr9:1447395-1447396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs77035763	chr9:1447396-1447397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181112056	chr9:1447399-1447400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547870856	chr9:1447501-1447502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs374320602	chr9:1447502-1447503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs149006736	chr9:1447516-1447517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538501108	chr9:1447520-1447521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs549145639	chr9:1447523-1447524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568972828	chr9:1447531-1447532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs76968460	chr9:1447532-1447533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557630784	chr9:1447540-1447541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577175565	chr9:1447558-1447559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533533147	chr9:1447574-1447575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs60157538	chr9:1447581-1447582	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs547060081	chr9:1447589-1447590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs72690611	chr9:1447601-1447602	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs542394913	chr9:1447634-1447635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs116164744	chr9:1447640-1447641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368244552	chr9:1447652-1447653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538313278	chr9:1447668-1447669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7036398	chr9:1447672-1447673	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs78705664	chr9:1447697-1447698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs1332005	chr9:1447740-1447741	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs368502755	chr9:1447772-1447773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528032833	chr9:1447780-1447781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Esophageal cancer	21851588	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:1415400-1452800	Weak transcription	Adipose Nuclei	Adipose
2	chr9:1446200-1447000	Enhancers	Fetal Lung	lung

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