Variant report

Variant	nsv519593
Chromosome Location	chr9:15855317-15861885
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 307 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:307 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1578558	chr9:15855317-15855318	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs60303840	chr9:15855326-15855327	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs113826873	chr9:15855337-15855338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs544871384	chr9:15855358-15855359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs57149079	chr9:15855425-15855426	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs546585127	chr9:15855438-15855439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs566399335	chr9:15855446-15855447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs11515071	chr9:15855545-15855546	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs181497006	chr9:15855552-15855553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs143902668	chr9:15855607-15855608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541571816	chr9:15855725-15855726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs114385992	chr9:15855739-15855740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558343890	chr9:15855759-15855760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530430808	chr9:15855782-15855783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545734733	chr9:15855784-15855785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571789746	chr9:15855819-15855820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564247118	chr9:15855837-15855838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528362415	chr9:15855847-15855848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184085118	chr9:15855875-15855876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs73422709	chr9:15855877-15855878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529097864	chr9:15855879-15855880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188620048	chr9:15855887-15855888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539879522	chr9:15855907-15855908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539454109	chr9:15855927-15855928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558096520	chr9:15855930-15855931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181067826	chr9:15855953-15855954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs144271875	chr9:15855973-15855974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555637371	chr9:15855976-15855977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573934976	chr9:15855992-15855993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7873012	chr9:15856046-15856047	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs116023693	chr9:15856073-15856074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs575269127	chr9:15856206-15856207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545498296	chr9:15856216-15856217	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564144617	chr9:15856254-15856255	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557206585	chr9:15856256-15856257	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528074323	chr9:15856275-15856276	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543865224	chr9:15856285-15856286	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540582837	chr9:15856289-15856290	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs561954408	chr9:15856316-15856317	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs529111283	chr9:15856338-15856339	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562085375	chr9:15856347-15856348	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562865322	chr9:15856354-15856355	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533500741	chr9:15856392-15856393	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs77590326	chr9:15856429-15856430	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs115622197	chr9:15856461-15856462	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs148668815	chr9:15856481-15856482	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549273104	chr9:15856500-15856501	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs73422714	chr9:15856501-15856502	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs538068383	chr9:15856507-15856508	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186113898	chr9:15856543-15856544	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	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
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	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
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	19835627	CNVD
Breast cancer	22522925	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:15830200-15857200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr9:15845000-15858800	Weak transcription	Thymus	Thymus
3	chr9:15847200-15857600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr9:15849000-15873800	Weak transcription	Fetal Lung	lung
5	chr9:15852800-15857400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr9:15854000-15855600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr9:15855600-15856200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr9:15856000-15857200	Enhancers	Osteobl	bone
9	chr9:15856200-15856400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr9:15856200-15857000	Enhancers	HSMM	muscle
11	chr9:15856200-15857200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr9:15856400-15857000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr9:15856400-15857400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr9:15857200-15857800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
15	chr9:15857400-15858000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr9:15857400-15858200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr9:15857600-15857800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
18	chr9:15857800-15885400	Weak transcription	Primary hematopoietic stem cells	blood
19	chr9:15858000-15859600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr9:15858200-15862600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr9:15859200-15860400	Enhancers	HUVEC	blood vessel
22	chr9:15859600-15861200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr9:15861200-15861400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin

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