Variant report

Variant	nsv892241
Chromosome Location	chr9:8805462-8822267
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 935 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:935 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4562389	chr9:8805462-8805463	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs528301771	chr9:8805478-8805479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546476279	chr9:8805499-8805500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs574428138	chr9:8805505-8805506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs563930235	chr9:8805507-8805508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538580459	chr9:8805517-8805518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs372802659	chr9:8805519-8805520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556873080	chr9:8805532-8805533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs77815674	chr9:8805544-8805545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183457397	chr9:8805577-8805578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs138350030	chr9:8805593-8805594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574268569	chr9:8805595-8805596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187392611	chr9:8805666-8805667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs553624740	chr9:8805671-8805672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs76000509	chr9:8805693-8805694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs112814437	chr9:8805700-8805701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs7021643	chr9:8805728-8805729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs146135018	chr9:8805770-8805771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs542692857	chr9:8805780-8805781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs561081208	chr9:8805785-8805786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs528582247	chr9:8805802-8805803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs529152588	chr9:8805811-8805812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs112015650	chr9:8805845-8805846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs572720497	chr9:8805898-8805899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs373644704	chr9:8805911-8805912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs564939258	chr9:8805912-8805913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs532425627	chr9:8805944-8805945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs545101103	chr9:8805950-8805951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs7022850	chr9:8805963-8805964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs568810053	chr9:8805976-8805977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs112884119	chr9:8806032-8806033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190322302	chr9:8806068-8806069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566544461	chr9:8806071-8806072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533875788	chr9:8806116-8806117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553492644	chr9:8806154-8806155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182588143	chr9:8806174-8806175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374590833	chr9:8806188-8806189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539316596	chr9:8806234-8806235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs5896261	chr9:8806253-8806254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs557398562	chr9:8806255-8806256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs575221057	chr9:8806260-8806261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs397894019	chr9:8806261-8806262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs542580740	chr9:8806263-8806264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs72702362	chr9:8806291-8806292	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs577425166	chr9:8806300-8806301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs148576923	chr9:8806306-8806307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs145049998	chr9:8806312-8806313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs566080870	chr9:8806330-8806331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs532232518	chr9:8806334-8806335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs116449053	chr9:8806342-8806343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:112)

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
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD

Chromatin state (count:185 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8794200-8821800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr9:8794800-8825600	Weak transcription	Ovary	ovary
3	chr9:8798400-8815400	Weak transcription	Fetal Brain Male	brain
4	chr9:8799200-8809000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr9:8799400-8806400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr9:8799600-8806400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr9:8799800-8806200	Weak transcription	Brain Substantia Nigra	brain
8	chr9:8800000-8807800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr9:8800000-8809000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr9:8800600-8806600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr9:8800600-8810800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr9:8800800-8807600	Weak transcription	Brain Angular Gyrus	brain
13	chr9:8800800-8808800	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr9:8800800-8809800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr9:8802600-8806800	Weak transcription	Stomach Mucosa	stomach
16	chr9:8802600-8815200	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr9:8803000-8806600	Weak transcription	Brain Hippocampus Middle	brain
18	chr9:8803000-8811000	Weak transcription	Fetal Lung	lung
19	chr9:8805400-8805600	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr9:8805600-8806000	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr9:8806200-8807600	Enhancers	Brain Substantia Nigra	brain
22	chr9:8806400-8806600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr9:8806400-8807000	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr9:8806600-8806800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr9:8806600-8808400	Enhancers	Brain Hippocampus Middle	brain
26	chr9:8806800-8807000	Enhancers	Stomach Mucosa	stomach
27	chr9:8806800-8807800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr9:8806800-8816000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr9:8807000-8807600	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr9:8807600-8808200	Weak transcription	Brain Substantia Nigra	brain
31	chr9:8807600-8808400	Enhancers	Brain Angular Gyrus	brain
32	chr9:8807600-8811000	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr9:8807800-8808000	Enhancers	Aorta	Aorta
34	chr9:8807800-8808400	Enhancers	Brain Cingulate Gyrus	brain
35	chr9:8808000-8825600	Weak transcription	Aorta	Aorta
36	chr9:8808200-8810600	Enhancers	Brain Substantia Nigra	brain
37	chr9:8808400-8809600	Weak transcription	Brain Cingulate Gyrus	brain
38	chr9:8808400-8811200	Weak transcription	Brain Hippocampus Middle	brain
39	chr9:8808400-8814200	Weak transcription	Brain Angular Gyrus	brain
40	chr9:8808800-8809000	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr9:8808800-8809200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr9:8809000-8809400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr9:8809000-8809400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr9:8809000-8810600	Enhancers	Brain Anterior Caudate	brain
45	chr9:8809000-8815200	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr9:8809200-8810800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr9:8809400-8814200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr9:8809400-8815800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr9:8809600-8812000	Enhancers	Brain Cingulate Gyrus	brain
50	chr9:8809800-8812000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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