Variant report

Variant	nsv1027042
Chromosome Location	chr9:9208635-9300048
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 613 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:613 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372948306	chr9:9214027-9214028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs10977585	chr9:9214044-9214045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs372228500	chr9:9214051-9214052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs7040623	chr9:9214122-9214123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191908967	chr9:9214136-9214137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs112608391	chr9:9214148-9214149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557131593	chr9:9214184-9214185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs375967926	chr9:9214226-9214227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs575203546	chr9:9214262-9214263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs184339523	chr9:9214268-9214269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs542741256	chr9:9214272-9214273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs527370100	chr9:9214288-9214289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs554747535	chr9:9214290-9214291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs572862404	chr9:9214342-9214343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs145140577	chr9:9214415-9214416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs111305245	chr9:9214416-9214417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs139010031	chr9:9214423-9214424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs533686941	chr9:9214454-9214455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs545223408	chr9:9214460-9214461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs369166835	chr9:9214483-9214484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs532465879	chr9:9214484-9214485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs397948831	chr9:9214498-9214499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs141600040	chr9:9214513-9214514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs189117454	chr9:9214594-9214595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs375956448	chr9:9214602-9214603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs561072335	chr9:9214679-9214680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs150871298	chr9:9214693-9214694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs7041436	chr9:9214700-9214701	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs369644814	chr9:9214749-9214750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs571413496	chr9:9214754-9214755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs538930120	chr9:9214757-9214758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs550649296	chr9:9214760-9214761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs139375401	chr9:9214803-9214804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs4596705	chr9:9214833-9214834	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs533099895	chr9:9214834-9214835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs114404627	chr9:9214906-9214907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs533728119	chr9:9214948-9214949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs558526610	chr9:9214960-9214961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs182058382	chr9:9214980-9214981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs549663401	chr9:9215053-9215054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs544818777	chr9:9215113-9215114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs140256949	chr9:9215149-9215150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs531717171	chr9:9215172-9215173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs548252562	chr9:9215177-9215178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs185823516	chr9:9215190-9215191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs542833497	chr9:9215196-9215197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs561015465	chr9:9215263-9215264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs556696485	chr9:9215266-9215267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs144194821	chr9:9215282-9215283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs376717940	chr9:9215284-9215285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:111)

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
Chordoma	21215367	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:9214000-9215000	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr9:9214000-9215200	Enhancers	Fetal Kidney	kidney
3	chr9:9214000-9215200	Enhancers	Fetal Lung	lung
4	chr9:9214000-9215400	Enhancers	Stomach Mucosa	stomach
5	chr9:9215200-9218800	Weak transcription	Fetal Lung	lung
6	chr9:9216800-9217400	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr9:9217000-9217400	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr9:9218800-9219000	Enhancers	Fetal Lung	lung
9	chr9:9219000-9219400	Weak transcription	Fetal Lung	lung
10	chr9:9219400-9219800	Enhancers	Fetal Lung	lung
11	chr9:9225400-9225600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr9:9225600-9225800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr9:9227000-9228400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr9:9230400-9230800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr9:9237800-9239600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr9:9239600-9240000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr9:9256000-9257000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr9:9260200-9260600	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr9:9270200-9270600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr9:9283600-9284400	Enhancers	Fetal Kidney	kidney

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links