Variant report

Variant	nsv972650
Chromosome Location	chr9:14069158-14070792
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535120309	chr9:14069212-14069213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs182567885	chr9:14069286-14069287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs185704841	chr9:14069317-14069318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369835261	chr9:14069322-14069323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs534689218	chr9:14069323-14069324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554444875	chr9:14069343-14069344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs2145987	chr9:14069386-14069387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577508265	chr9:14069460-14069461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546334411	chr9:14069500-14069501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189680930	chr9:14069536-14069537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7044319	chr9:14069543-14069544	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs147724974	chr9:14069545-14069546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs76857828	chr9:14069565-14069566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs527815735	chr9:14069635-14069636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs114205194	chr9:14069636-14069637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544876180	chr9:14069648-14069649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs183001332	chr9:14069662-14069663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549912206	chr9:14069669-14069670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs569874127	chr9:14069715-14069716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529164495	chr9:14069719-14069720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548734233	chr9:14069747-14069748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565669070	chr9:14069803-14069804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs79827562	chr9:14069828-14069829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs202162828	chr9:14069847-14069848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs557891855	chr9:14069861-14069862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528740256	chr9:14069894-14069895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs59104676	chr9:14069957-14069958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539663575	chr9:14069961-14069962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556691237	chr9:14069994-14069995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113448702	chr9:14070005-14070006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs112467896	chr9:14070009-14070010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113301898	chr9:14070035-14070036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs142590275	chr9:14070041-14070042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540985446	chr9:14070055-14070056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs564254431	chr9:14070056-14070057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530512459	chr9:14070098-14070099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376689248	chr9:14070177-14070178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551799969	chr9:14070193-14070194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs146906571	chr9:14070223-14070224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544005789	chr9:14070240-14070241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188753178	chr9:14070254-14070255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549293426	chr9:14070266-14070267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs112201620	chr9:14070269-14070270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs386732890	chr9:14070331-14070332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs10217689	chr9:14070332-14070333	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs551363352	chr9:14070412-14070413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571279517	chr9:14070421-14070422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs10961361	chr9:14070422-14070423	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs550142948	chr9:14070491-14070492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187263017	chr9:14070513-14070514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Disorders of sex development	21048976	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
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
Glioblastoma multiforme	21080181	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	21764851	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Gastric cancer	16891809	CNVD
Mental retardation	17847001	CNVD
Cutaneous squamous cell carcinomas	17420988	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21611746	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	chr9:14063400-14074000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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