Variant report

Variant	nsv526971
Chromosome Location	chr9:8382720-8388220
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 270 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:270 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1875238	chr9:8382720-8382721	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs144328788	chr9:8382734-8382735	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs549163248	chr9:8382740-8382741	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs578060850	chr9:8382746-8382747	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs373523191	chr9:8382750-8382751	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs146573427	chr9:8382774-8382775	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs528443690	chr9:8382780-8382781	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs547003893	chr9:8382800-8382801	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs10977020	chr9:8382809-8382810	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs533411361	chr9:8382838-8382839	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs73416474	chr9:8382855-8382856	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs140057023	chr9:8382895-8382896	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs569310031	chr9:8382906-8382907	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575474221	chr9:8382933-8382934	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs554340698	chr9:8382936-8382937	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs572810744	chr9:8382949-8382950	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs142414767	chr9:8382962-8382963	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs1500326	chr9:8382966-8382967	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs185486659	chr9:8382987-8382988	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs187535966	chr9:8383003-8383004	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs192116986	chr9:8383035-8383036	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs368897357	chr9:8383054-8383055	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs574518817	chr9:8383078-8383079	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs570091536	chr9:8383085-8383086	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs28644788	chr9:8383102-8383103	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs184335771	chr9:8383174-8383175	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs528577604	chr9:8383182-8383183	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs544777416	chr9:8383219-8383220	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs547064751	chr9:8383226-8383227	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs58907783	chr9:8383233-8383234	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs34270514	chr9:8383234-8383235	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs397717150	chr9:8383235-8383236	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs373830891	chr9:8383236-8383237	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs565268503	chr9:8383240-8383241	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs556982610	chr9:8383251-8383252	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs151287589	chr9:8383252-8383253	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs371294249	chr9:8383297-8383298	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs550943022	chr9:8383306-8383307	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs117530128	chr9:8383350-8383351	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs370711081	chr9:8383353-8383354	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs536411798	chr9:8383407-8383408	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs143608738	chr9:8383408-8383409	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs188584807	chr9:8383411-8383412	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs568389057	chr9:8383445-8383446	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs180991234	chr9:8383461-8383462	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs140609998	chr9:8383470-8383471	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs558140373	chr9:8383483-8383484	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs184438585	chr9:8383490-8383491	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs537771715	chr9:8383510-8383511	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs1392522	chr9:8383549-8383550	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:114)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
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
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
Medulloblastoma	16783165	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:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8339600-8397600	Weak transcription	Fetal Muscle Leg	muscle
2	chr9:8361400-8401600	Weak transcription	Fetal Muscle Trunk	muscle
3	chr9:8364800-8401600	Weak transcription	Brain Germinal Matrix	brain
4	chr9:8365000-8395400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr9:8365200-8386800	Weak transcription	Brain Anterior Caudate	brain
6	chr9:8365600-8386200	Weak transcription	Brain Angular Gyrus	brain
7	chr9:8365600-8386200	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr9:8366800-8383000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr9:8367200-8394600	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr9:8367200-8399800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr9:8373000-8402200	Weak transcription	Fetal Kidney	kidney
12	chr9:8373600-8385800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr9:8374000-8394400	Weak transcription	Fetal Heart	heart
14	chr9:8374600-8386800	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr9:8376600-8386800	Weak transcription	Brain Hippocampus Middle	brain
16	chr9:8376800-8386600	Weak transcription	Primary hematopoietic stem cells	blood
17	chr9:8376800-8393200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr9:8376800-8401800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr9:8377800-8383400	Weak transcription	Fetal Brain Male	brain
20	chr9:8377800-8406400	Weak transcription	Fetal Brain Female	brain
21	chr9:8381800-8383400	Enhancers	Pancreas	Pancrea
22	chr9:8381800-8383600	Enhancers	Aorta	Aorta
23	chr9:8382000-8383800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr9:8382000-8384400	Enhancers	Fetal Lung	lung
25	chr9:8382200-8383000	Enhancers	Ovary	ovary
26	chr9:8382400-8383600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr9:8382400-8384800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr9:8383000-8383600	Enhancers	Brain Cingulate Gyrus	brain
29	chr9:8383000-8386800	Weak transcription	Ovary	ovary
30	chr9:8383400-8384200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr9:8383400-8387600	Weak transcription	Pancreas	Pancrea
32	chr9:8383600-8384600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr9:8383600-8386400	Weak transcription	Brain Cingulate Gyrus	brain
34	chr9:8383600-8405200	Weak transcription	Aorta	Aorta
35	chr9:8383800-8384000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr9:8383800-8384000	Enhancers	Placenta Amnion	Placenta Amnion
37	chr9:8384000-8384800	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr9:8384000-8384800	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr9:8384000-8387800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr9:8384000-8389200	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr9:8384200-8394600	Weak transcription	Left Ventricle	heart
42	chr9:8384400-8386000	Weak transcription	Fetal Lung	lung
43	chr9:8384600-8385000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr9:8384800-8389200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr9:8385000-8385200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr9:8385200-8401400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr9:8385800-8387800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr9:8386000-8387200	Strong transcription	Fetal Lung	lung
49	chr9:8386200-8387000	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr9:8386200-8387800	Enhancers	Brain Angular Gyrus	brain

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