Variant report

Variant	nsv466157
Chromosome Location	chr9:10119504-10170101
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1398 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:1398 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13283837	chr9:10122818-10122819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs535628556	chr9:10122837-10122838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs145652586	chr9:10122864-10122865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs138468497	chr9:10122866-10122867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs185442132	chr9:10122914-10122915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs558150104	chr9:10122927-10122928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs571793939	chr9:10122929-10122930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs571463489	chr9:10122949-10122950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs76594257	chr9:10122964-10122965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs141979390	chr9:10122983-10122984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574195785	chr9:10123009-10123010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs150698530	chr9:10123060-10123061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs75020311	chr9:10123089-10123090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs559929060	chr9:10123097-10123098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs542240711	chr9:10123099-10123100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs571892090	chr9:10123178-10123179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs1567404	chr9:10123193-10123194	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs190639105	chr9:10123199-10123200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs561951384	chr9:10123216-10123217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563690999	chr9:10123221-10123222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567330090	chr9:10123224-10123225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532873094	chr9:10123225-10123226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs116461602	chr9:10123238-10123239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113362973	chr9:10123268-10123269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529104779	chr9:10123281-10123282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549147508	chr9:10123327-10123328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565852661	chr9:10123329-10123330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs528361678	chr9:10123374-10123375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs180697412	chr9:10123375-10123376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185466499	chr9:10123383-10123384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537435517	chr9:10123422-10123423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188655366	chr9:10123456-10123457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567729816	chr9:10123525-10123526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536460374	chr9:10123529-10123530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553501087	chr9:10123537-10123538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs138860430	chr9:10123578-10123579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372081068	chr9:10123609-10123610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545254862	chr9:10123640-10123641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558814818	chr9:10123645-10123646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577264532	chr9:10123655-10123656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542993083	chr9:10123677-10123678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs149406224	chr9:10123684-10123685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181389909	chr9:10123696-10123697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs147375840	chr9:10123706-10123707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs10958889	chr9:10123735-10123736	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs139589940	chr9:10123743-10123744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376757070	chr9:10123789-10123790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs291300	chr9:10123852-10123853	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs575204879	chr9:10123876-10123877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185768285	chr9:10123878-10123879	Weak transcription	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
Melanoma	22183965	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Attention deficit hyperactivity disorder	19546859	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:10122800-10123200	Enhancers	Fetal Heart	heart
2	chr9:10123200-10135600	Weak transcription	Fetal Heart	heart
3	chr9:10128400-10128600	Bivalent Enhancer	Aorta	Aorta
4	chr9:10128600-10128800	Flanking Bivalent TSS/Enh	Aorta	Aorta
5	chr9:10129600-10131200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr9:10130200-10131600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr9:10130400-10131800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr9:10130800-10131400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr9:10134000-10134400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr9:10134000-10134600	Enhancers	H1 Cell Line	embryonic stem cell
11	chr9:10134000-10134600	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr9:10134200-10134600	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr9:10134200-10134600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr9:10134200-10134600	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr9:10134200-10134600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr9:10134200-10134600	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr9:10135600-10136200	Enhancers	Fetal Heart	heart
18	chr9:10143600-10145400	Enhancers	Fetal Heart	heart
19	chr9:10143800-10144000	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr9:10143800-10145000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr9:10144600-10144800	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr9:10145200-10146400	Enhancers	Liver	Liver
23	chr9:10145400-10146800	Weak transcription	Fetal Heart	heart
24	chr9:10146200-10146800	Enhancers	HepG2	liver
25	chr9:10146400-10147200	Enhancers	Stomach Mucosa	stomach
26	chr9:10146400-10148200	Flanking Active TSS	Liver	Liver
27	chr9:10146600-10147000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr9:10146800-10147200	Flanking Active TSS	HepG2	liver
29	chr9:10146800-10149000	Enhancers	Fetal Heart	heart
30	chr9:10147000-10149800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr9:10147200-10148000	Enhancers	HepG2	liver
32	chr9:10148200-10149600	Enhancers	Liver	Liver
33	chr9:10148600-10149400	Enhancers	Fetal Brain Female	brain
34	chr9:10159600-10160200	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr9:10164400-10164600	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr9:10164800-10165400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr9:10164800-10166600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr9:10165000-10165400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr9:10165200-10165400	Enhancers	Pancreatic Islets	Pancreatic Islet
40	chr9:10165400-10167800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr9:10165400-10173600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr9:10166600-10167800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr9:10167200-10168000	Enhancers	Fetal Brain Male	brain
44	chr9:10167600-10168000	Enhancers	Fetal Heart	heart
45	chr9:10167800-10168200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr9:10167800-10168600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr9:10168000-10168400	Weak transcription	Fetal Heart	heart
48	chr9:10168000-10173600	Weak transcription	Fetal Brain Male	brain
49	chr9:10168400-10168600	Enhancers	Fetal Heart	heart
50	chr9:10168600-10172000	Weak transcription	Fetal Heart	heart

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