Variant report

Variant	nsv442133
Chromosome Location	chr9:8615659-8620138
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 238 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:238 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188334031	chr9:8615715-8615716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs561331820	chr9:8615728-8615729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs528732085	chr9:8615753-8615754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs540561874	chr9:8615754-8615755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs565612177	chr9:8615772-8615773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs80103550	chr9:8615816-8615817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs193027710	chr9:8615820-8615821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs116792410	chr9:8615847-8615848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs530229001	chr9:8615849-8615850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs114915956	chr9:8615904-8615905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs566544112	chr9:8615910-8615911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs534033078	chr9:8615914-8615915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs116642877	chr9:8615953-8615954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs78736456	chr9:8616063-8616064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs117730019	chr9:8616069-8616070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs534018573	chr9:8616097-8616098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs184072586	chr9:8616102-8616103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs574153713	chr9:8616109-8616110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs74960850	chr9:8616114-8616115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs188411710	chr9:8616122-8616123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs573342894	chr9:8616160-8616161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs540849661	chr9:8616182-8616183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs565550366	chr9:8616206-8616207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs553993392	chr9:8616214-8616215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs79984430	chr9:8616215-8616216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs545766624	chr9:8616226-8616227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs73423259	chr9:8616257-8616258	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs149750929	chr9:8616282-8616283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs191420809	chr9:8616308-8616309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs527469650	chr9:8616309-8616310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs551972096	chr9:8616314-8616315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs113464795	chr9:8616325-8616326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs115084925	chr9:8616330-8616331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs62530714	chr9:8616335-8616336	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs549318248	chr9:8616340-8616341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs80160591	chr9:8616350-8616351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs141251967	chr9:8616359-8616360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs143563242	chr9:8616370-8616371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs553565517	chr9:8616401-8616402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs528913835	chr9:8616416-8616417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs72698230	chr9:8616448-8616449	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs183565796	chr9:8616452-8616453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs72698231	chr9:8616460-8616461	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs140615738	chr9:8616478-8616479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs575554638	chr9:8616482-8616483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs143685732	chr9:8616512-8616513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs182071009	chr9:8616515-8616516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs542234585	chr9:8616521-8616522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs560354176	chr9:8616551-8616552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs527800697	chr9:8616566-8616567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:113)

Disease	PMID	Source
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
Chronic lymphocytic leukemia	21546498	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
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	21811587	CNVD
Pancreatic ductal adenocarcinoma	19077451	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8586000-8618000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr9:8610600-8616800	Weak transcription	Ovary	ovary
3	chr9:8614400-8616000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr9:8614400-8627000	Weak transcription	Fetal Lung	lung
5	chr9:8615200-8621200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr9:8615200-8627200	Weak transcription	Brain Germinal Matrix	brain
7	chr9:8615400-8620000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr9:8615400-8624000	Weak transcription	Brain Angular Gyrus	brain
9	chr9:8615400-8626600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr9:8615400-8628000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr9:8615400-8628000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr9:8615400-8632000	Weak transcription	Fetal Brain Male	brain
13	chr9:8615600-8616000	Weak transcription	Fetal Heart	heart
14	chr9:8615600-8616800	Weak transcription	Brain Hippocampus Middle	brain
15	chr9:8615600-8620800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr9:8615600-8620800	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr9:8615600-8627800	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr9:8615600-8629200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr9:8616000-8617400	Enhancers	Fetal Heart	heart
20	chr9:8616200-8617000	Enhancers	NH-A	brain
21	chr9:8616600-8616800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr9:8616800-8617000	Enhancers	Ovary	ovary
23	chr9:8616800-8617600	Enhancers	Brain Hippocampus Middle	brain
24	chr9:8616800-8648000	Weak transcription	Fetal Kidney	kidney
25	chr9:8617400-8622200	Weak transcription	Fetal Heart	heart
26	chr9:8617600-8619200	Weak transcription	Brain Hippocampus Middle	brain
27	chr9:8618000-8618400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr9:8618000-8618800	Enhancers	Primary hematopoietic stem cells	blood
29	chr9:8618400-8621600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr9:8618800-8621800	Weak transcription	Primary hematopoietic stem cells	blood
31	chr9:8620000-8621800	Enhancers	iPS-20b Cell Line	embryonic stem cell

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