Variant report

Variant	esv19487
Chromosome Location	chr9:7415929-7417779
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 87 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190253158	chr9:7415991-7415992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs562640327	chr9:7416066-7416067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529972427	chr9:7416079-7416080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs545471090	chr9:7416091-7416092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs139834292	chr9:7416098-7416099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192822062	chr9:7416100-7416101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs56243934	chr9:7416105-7416106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549573341	chr9:7416107-7416108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185243340	chr9:7416109-7416110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs529170691	chr9:7416123-7416124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs10114280	chr9:7416124-7416125	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs566734613	chr9:7416143-7416144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534223937	chr9:7416157-7416158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs559064916	chr9:7416183-7416184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535260629	chr9:7416195-7416196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550673951	chr9:7416221-7416222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs144861900	chr9:7416267-7416268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538397592	chr9:7416280-7416281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs10122704	chr9:7416294-7416295	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs575020976	chr9:7416317-7416318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs114683359	chr9:7416337-7416338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1926409	chr9:7416348-7416349	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs374304479	chr9:7416357-7416358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs571919733	chr9:7416403-7416404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs16935865	chr9:7416419-7416420	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs144003892	chr9:7416433-7416434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs145935031	chr9:7416457-7416458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543160074	chr9:7416500-7416501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs537006326	chr9:7416529-7416530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs561723854	chr9:7416538-7416539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529117860	chr9:7416546-7416547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547351375	chr9:7416561-7416562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs559618729	chr9:7416577-7416578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs527649493	chr9:7416592-7416593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs4119627	chr9:7416604-7416605	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs570907977	chr9:7416612-7416613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs142098901	chr9:7416624-7416625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12348704	chr9:7416659-7416660	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs568540367	chr9:7416670-7416671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536068768	chr9:7416671-7416672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554136681	chr9:7416722-7416723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201452867	chr9:7416756-7416757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376809154	chr9:7416771-7416772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538999133	chr9:7416783-7416784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188857026	chr9:7416806-7416807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575672507	chr9:7416814-7416815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs140253615	chr9:7416860-7416861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149927789	chr9:7416867-7416868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs367626682	chr9:7416881-7416882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561846775	chr9:7416899-7416900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
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
Disorders of sex development	21048976	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
Oral squamous cell carcinoma	17134496	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
Melanoma	18172304	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
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Developmental delay	21147756	CNVD
Lung cancer	18438408	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
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Metastatic melanoma	18483359	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Medulloblastoma	16783165	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:7408000-7431200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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