Variant report

Variant	nsv613369
Chromosome Location	chr9:9962204-9993029
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 670 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:670 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7860014	chr9:9962204-9962205	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs111579387	chr9:9962205-9962206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547735481	chr9:9962282-9962283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs143765891	chr9:9962306-9962307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs371158502	chr9:9962308-9962309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs571166885	chr9:9962327-9962328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs182779639	chr9:9962356-9962357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs7470838	chr9:9962381-9962382	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs377141403	chr9:9962395-9962396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537910921	chr9:9962400-9962401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs554650690	chr9:9962403-9962404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs139552457	chr9:9962409-9962410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs532899824	chr9:9962450-9962451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs574506586	chr9:9962455-9962456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs150056290	chr9:9962460-9962461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs557028842	chr9:9962485-9962486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs10491909	chr9:9962498-9962499	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs150703671	chr9:9962510-9962511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs377363308	chr9:9962528-9962529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs576753208	chr9:9962570-9962571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs187429163	chr9:9962571-9962572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs562507537	chr9:9962588-9962589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs370657979	chr9:9963203-9963204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs547194688	chr9:9963211-9963212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs545992547	chr9:9963243-9963244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs570267698	chr9:9963272-9963273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs556093000	chr9:9963342-9963343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs539261072	chr9:9963344-9963345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs546468706	chr9:9963360-9963361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs569664730	chr9:9963371-9963372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs538989304	chr9:9963384-9963385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs535460770	chr9:9963389-9963390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs201816141	chr9:9963423-9963424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs111711541	chr9:9963426-9963427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs557194272	chr9:9963439-9963440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs79812440	chr9:9963452-9963453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs572366380	chr9:9963490-9963491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs542084084	chr9:9963504-9963505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs370778480	chr9:9963528-9963529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs562032796	chr9:9963532-9963533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs578209965	chr9:9963556-9963557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs544076819	chr9:9963573-9963574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs187566463	chr9:9963579-9963580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs114776707	chr9:9963595-9963596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs146341403	chr9:9965036-9965037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs139637036	chr9:9965042-9965043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs10116230	chr9:9965050-9965051	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs544513446	chr9:9965140-9965141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs150615795	chr9:9965145-9965146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs530109450	chr9:9965165-9965166	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:115)

Disease	PMID	Source
abnormal development	18461090	CNVD
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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	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
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
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Lung cancer	20668451	CNVD
Schizophrenia	20838587	CNVD
Glioblastoma	18772890	CNVD
Glioblastoma multiforme	21390271	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	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
Acute myeloid leukemia	21251322	CNVD
Lung adenocarcinoma	17982442	CNVD
Breast cancer	21611746	CNVD
Schizophrenia	23813976	CNVD
Bipolar disorder	19114987	CNVD
Glioma	20126413	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:9962200-9962600	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr9:9963200-9963600	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr9:9965000-9965400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr9:9965200-9967800	Enhancers	Fetal Heart	heart
5	chr9:9969600-9970000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr9:9970000-9972800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr9:9970600-9971000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr9:9972800-9973000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr9:9972800-9973600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr9:9973200-9973600	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr9:9989600-9989800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr9:9989800-9990000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr9:9989800-10000400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr9:9990000-9999000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr9:9990200-9990600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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