Variant report

Variant	nsv972602
Chromosome Location	chr9:8551974-8554250
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 120 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:120 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76457805	chr9:8552000-8552001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs535231333	chr9:8552006-8552007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs553146651	chr9:8552016-8552017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs187194609	chr9:8552042-8552043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs545398170	chr9:8552046-8552047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs565539002	chr9:8552064-8552065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs192174940	chr9:8552072-8552073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs570735847	chr9:8552080-8552081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs563160017	chr9:8552081-8552082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs145606884	chr9:8552092-8552093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs62534058	chr9:8552113-8552114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs151087243	chr9:8552123-8552124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs561233162	chr9:8552125-8552126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs141021991	chr9:8552139-8552140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs546398322	chr9:8552142-8552143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs370228955	chr9:8552154-8552155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs73430450	chr9:8552209-8552210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs150271619	chr9:8552214-8552215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs73430452	chr9:8552219-8552220	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs545539707	chr9:8552235-8552236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs77392218	chr9:8552350-8552351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs118089992	chr9:8552359-8552360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs567952804	chr9:8552367-8552368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs146927680	chr9:8552395-8552396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs199951631	chr9:8552400-8552401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs138928874	chr9:8552406-8552407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs578197752	chr9:8552469-8552470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs148827520	chr9:8552494-8552495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs557004113	chr9:8552523-8552524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs575196558	chr9:8552529-8552530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs77652654	chr9:8552545-8552546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs554226357	chr9:8552574-8552575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs145223704	chr9:8552606-8552607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs540107291	chr9:8552608-8552609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs564751586	chr9:8552611-8552612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs532156592	chr9:8552613-8552614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs545196740	chr9:8552640-8552641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs532807267	chr9:8552655-8552656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs563803907	chr9:8552677-8552678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs147168340	chr9:8552692-8552693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs543757288	chr9:8552701-8552702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs137949685	chr9:8552705-8552706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs73430455	chr9:8552730-8552731	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs181788195	chr9:8552731-8552732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs142450956	chr9:8552772-8552773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs571904097	chr9:8552835-8552836	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539202413	chr9:8552836-8552837	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375435595	chr9:8552848-8552849	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs529775467	chr9:8552851-8552852	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs559014321	chr9:8552872-8552873	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:113)

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

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8420600-8557600	Weak transcription	Aorta	Aorta
2	chr9:8518400-8555200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr9:8533400-8552200	Weak transcription	Fetal Brain Male	brain
4	chr9:8534600-8564000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr9:8541600-8557600	Weak transcription	Fetal Stomach	stomach
6	chr9:8543000-8553200	Weak transcription	Brain Anterior Caudate	brain
7	chr9:8545600-8555800	Weak transcription	Fetal Lung	lung
8	chr9:8546000-8557000	Weak transcription	Fetal Muscle Leg	muscle
9	chr9:8549600-8552400	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr9:8550600-8553800	Enhancers	Brain Angular Gyrus	brain
11	chr9:8550800-8553800	Enhancers	Brain Substantia Nigra	brain
12	chr9:8551000-8552000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr9:8551000-8552000	Weak transcription	Brain Hippocampus Middle	brain
14	chr9:8552000-8553400	Enhancers	Brain Cingulate Gyrus	brain
15	chr9:8552000-8554000	Enhancers	Brain Hippocampus Middle	brain
16	chr9:8552400-8552600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr9:8552400-8553800	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr9:8552800-8553000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr9:8553000-8561400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr9:8553200-8553400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr9:8553200-8553600	Enhancers	Brain Anterior Caudate	brain
22	chr9:8553400-8555400	Weak transcription	Brain Cingulate Gyrus	brain
23	chr9:8553600-8571000	Weak transcription	Brain Anterior Caudate	brain
24	chr9:8553800-8555800	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr9:8553800-8555800	Weak transcription	Brain Substantia Nigra	brain
26	chr9:8553800-8559400	Weak transcription	Brain Angular Gyrus	brain
27	chr9:8554000-8554200	Enhancers	Ovary	ovary
28	chr9:8554000-8554200	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr9:8554000-8555200	Weak transcription	Brain Hippocampus Middle	brain

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