Variant report

Variant	nsv969781
Chromosome Location	chr9:8570039-8591459
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:8588883..8590672-chr9:8594952..8596900,2	K562	blood:

Extended variants
information (count: 1078 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:1078 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537528163	chr9:8570047-8570048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs186038790	chr9:8570073-8570074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs10977208	chr9:8570156-8570157	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs377091413	chr9:8570161-8570162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs574258929	chr9:8570190-8570191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs189957871	chr9:8570194-8570195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs143519880	chr9:8570197-8570198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs142714639	chr9:8570272-8570273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs559953117	chr9:8570281-8570282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs541490313	chr9:8570285-8570286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs370296946	chr9:8570336-8570337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs576478606	chr9:8570424-8570425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs112341308	chr9:8570427-8570428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs181270033	chr9:8570461-8570462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs555521379	chr9:8570471-8570472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs150718870	chr9:8570489-8570490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs138004404	chr9:8570502-8570503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs562317641	chr9:8570505-8570506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs575704833	chr9:8570507-8570508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs186244357	chr9:8570509-8570510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs544938657	chr9:8570525-8570526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs533633802	chr9:8570541-8570542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs572751183	chr9:8570548-8570549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs541137163	chr9:8570565-8570566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs137972803	chr9:8570574-8570575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs149486480	chr9:8570591-8570592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs76049268	chr9:8570620-8570621	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190816415	chr9:8570651-8570652	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549053503	chr9:8570665-8570666	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370222189	chr9:8570676-8570677	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs139931019	chr9:8570685-8570686	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs76121626	chr9:8570718-8570719	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs546146261	chr9:8570726-8570727	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571222139	chr9:8570727-8570728	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538896285	chr9:8570769-8570770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs10977209	chr9:8570779-8570780	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs569015388	chr9:8570781-8570782	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs58948334	chr9:8570788-8570789	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs555904018	chr9:8570794-8570795	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375466977	chr9:8570808-8570809	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574144105	chr9:8570914-8570915	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535035667	chr9:8570915-8570916	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs368087509	chr9:8570936-8570937	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs182611926	chr9:8570958-8570959	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545669282	chr9:8570969-8570970	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186351820	chr9:8571014-8571015	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190748914	chr9:8571041-8571042	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs146282675	chr9:8571044-8571045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182997121	chr9:8571096-8571097	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs78851327	chr9:8571121-8571122	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:114)

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
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8553600-8571000	Weak transcription	Brain Anterior Caudate	brain
2	chr9:8556200-8571200	Weak transcription	Ovary	ovary
3	chr9:8556600-8570600	Weak transcription	Fetal Lung	lung
4	chr9:8557400-8575200	Weak transcription	Fetal Kidney	kidney
5	chr9:8558600-8571000	Weak transcription	Pancreas	Pancrea
6	chr9:8561200-8570600	Weak transcription	Fetal Heart	heart
7	chr9:8561600-8571800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr9:8568200-8571200	Enhancers	Brain Angular Gyrus	brain
9	chr9:8568200-8572400	Enhancers	Brain Substantia Nigra	brain
10	chr9:8568800-8571000	Weak transcription	Brain Cingulate Gyrus	brain
11	chr9:8568800-8571000	Enhancers	Dnd41	blood
12	chr9:8569000-8570200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr9:8569000-8571000	Enhancers	Primary hematopoietic stem cells	blood
14	chr9:8569200-8570200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr9:8569200-8570600	Weak transcription	Brain Hippocampus Middle	brain
16	chr9:8570000-8571400	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr9:8570200-8570400	Enhancers	Brain Germinal Matrix	brain
18	chr9:8570400-8571000	Weak transcription	Brain Germinal Matrix	brain
19	chr9:8570600-8571200	Enhancers	Brain Hippocampus Middle	brain
20	chr9:8570600-8571400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr9:8570600-8572400	Enhancers	Fetal Heart	heart
22	chr9:8570600-8576000	Enhancers	Fetal Lung	lung
23	chr9:8570800-8571200	Enhancers	Left Ventricle	heart
24	chr9:8570800-8571400	Enhancers	Fetal Intestine Small	intestine
25	chr9:8571000-8571200	Enhancers	Pancreas	Pancrea
26	chr9:8571000-8571600	Enhancers	Brain Anterior Caudate	brain
27	chr9:8571000-8571600	Enhancers	Brain Cingulate Gyrus	brain
28	chr9:8571200-8571400	Enhancers	Brain Germinal Matrix	brain
29	chr9:8571200-8571400	Enhancers	Ovary	ovary
30	chr9:8571200-8575400	Weak transcription	Brain Hippocampus Middle	brain
31	chr9:8571200-8576800	Weak transcription	Brain Angular Gyrus	brain
32	chr9:8571400-8571800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr9:8571400-8571800	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr9:8571600-8573400	Weak transcription	Brain Cingulate Gyrus	brain
35	chr9:8571600-8573600	Weak transcription	Brain Anterior Caudate	brain
36	chr9:8571800-8572000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr9:8571800-8572000	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr9:8571800-8572400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr9:8572000-8575800	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr9:8572000-8579600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr9:8572400-8573600	Weak transcription	Fetal Heart	heart
42	chr9:8572400-8575400	Weak transcription	Brain Substantia Nigra	brain
43	chr9:8573400-8574400	Enhancers	Brain Cingulate Gyrus	brain
44	chr9:8573600-8574200	Enhancers	Brain Anterior Caudate	brain
45	chr9:8573600-8574200	Enhancers	Fetal Heart	heart
46	chr9:8574200-8589600	Weak transcription	Brain Anterior Caudate	brain
47	chr9:8574400-8574600	Weak transcription	Brain Cingulate Gyrus	brain
48	chr9:8574600-8574800	Enhancers	Brain Cingulate Gyrus	brain
49	chr9:8574800-8575200	Weak transcription	Brain Cingulate Gyrus	brain
50	chr9:8575200-8577200	Enhancers	Brain Cingulate Gyrus	brain

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