Variant report

Variant	nsv433257
Chromosome Location	chr9:11359656-11418394
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 705 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:705 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140568530	chr9:11366602-11366603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs150450520	chr9:11366617-11366618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs137969422	chr9:11366623-11366624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs142446994	chr9:11366674-11366675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs566791531	chr9:11366686-11366687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs557326409	chr9:11366687-11366688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs183121916	chr9:11366699-11366700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs533926417	chr9:11366714-11366715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs563743380	chr9:11366718-11366719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs187500611	chr9:11366719-11366720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs542834655	chr9:11366743-11366744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs560125795	chr9:11366751-11366752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs202201199	chr9:11366753-11366754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs576396266	chr9:11366766-11366767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs528787849	chr9:11366773-11366774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs75038332	chr9:11366809-11366810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs565233443	chr9:11366818-11366819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs530918603	chr9:11366821-11366822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs551019847	chr9:11366849-11366850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs76580007	chr9:11366850-11366851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs138505612	chr9:11366856-11366857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs149330445	chr9:11366885-11366886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs545704858	chr9:11366891-11366892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs144583248	chr9:11366900-11366901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs534556634	chr9:11366916-11366917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs557338553	chr9:11366932-11366933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs577181365	chr9:11366951-11366952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs537591587	chr9:11366966-11366967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs536766618	chr9:11366986-11366987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs10959745	chr9:11366989-11366990	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs573642321	chr9:11366992-11366993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs148475604	chr9:11366995-11366996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs553603953	chr9:11367079-11367080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192668483	chr9:11367080-11367081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542000782	chr9:11367100-11367101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545677177	chr9:11367165-11367166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370076658	chr9:11367178-11367179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565295818	chr9:11367194-11367195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530907796	chr9:11367224-11367225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147189623	chr9:11367249-11367250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs561472626	chr9:11367263-11367264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184762108	chr9:11367266-11367267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs139985485	chr9:11367295-11367296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557641210	chr9:11367297-11367298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187611975	chr9:11367305-11367306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551231790	chr9:11367309-11367310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs75688281	chr9:11367319-11367320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376466223	chr9:11367330-11367331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556675661	chr9:11367334-11367335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs1889673	chr9:11367336-11367337	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:102)

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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	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
Cancer	20164920	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
Breast cancer	21611746	CNVD
Melanoma	22183965	CNVD
Barrett''s syndrome	19417022	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:11366600-11367000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr9:11366800-11367000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr9:11367000-11370800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr9:11372800-11377200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr9:11374800-11375400	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr9:11374800-11375600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr9:11374800-11375600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr9:11375000-11375400	Enhancers	H9 Cell Line	embryonic stem cell
9	chr9:11375000-11375400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr9:11375000-11375600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr9:11377200-11377600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr9:11390400-11390800	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr9:11401200-11401600	Active TSS	Fetal Brain Male	brain
14	chr9:11402400-11402800	Active TSS	Fetal Heart	heart
15	chr9:11413200-11413600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr9:11413200-11414600	ZNF genes & repeats	Spleen	Spleen
17	chr9:11413600-11413800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr9:11413600-11414000	ZNF genes & repeats	Pancreas	Pancrea
19	chr9:11414000-11421000	Weak transcription	Pancreas	Pancrea
20	chr9:11416800-11418200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr9:11417800-11425800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links