Variant report

Variant	nsv528345
Chromosome Location	chr9:8538919-8554938
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 806 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:806 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2184978	chr9:8538919-8538920	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs566333360	chr9:8538948-8538949	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs527453826	chr9:8538962-8538963	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs547084892	chr9:8538971-8538972	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs190250439	chr9:8538993-8538994	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs117602115	chr9:8539001-8539002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557069586	chr9:8539008-8539009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs569238089	chr9:8539011-8539012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs536952395	chr9:8539097-8539098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs555275649	chr9:8539099-8539100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs573494660	chr9:8539131-8539132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs145143984	chr9:8539157-8539158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs370107845	chr9:8539213-8539214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs532504272	chr9:8539241-8539242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs558645491	chr9:8539293-8539294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs374513667	chr9:8539297-8539298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs576859262	chr9:8539320-8539321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs544232440	chr9:8539321-8539322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs562353105	chr9:8539339-8539340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs529595778	chr9:8539402-8539403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs541742797	chr9:8539425-8539426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs34287535	chr9:8539431-8539432	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs150945681	chr9:8539510-8539511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs552085187	chr9:8539513-8539514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs571754183	chr9:8539516-8539517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs550975077	chr9:8539539-8539540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs193177090	chr9:8539561-8539562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs184182821	chr9:8539588-8539589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs569288096	chr9:8539632-8539633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs569298799	chr9:8539641-8539642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs10977192	chr9:8539678-8539679	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs188587403	chr9:8539690-8539691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs72694796	chr9:8539692-8539693	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs375778620	chr9:8539703-8539704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs185264300	chr9:8539718-8539719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs368223054	chr9:8539735-8539736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs76185364	chr9:8539749-8539750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs12341367	chr9:8539779-8539780	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs376085361	chr9:8539832-8539833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs372979988	chr9:8539864-8539865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs188076923	chr9:8539867-8539868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs76115932	chr9:8539876-8539877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs541408420	chr9:8539906-8539907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs140842314	chr9:8539928-8539929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs182272735	chr9:8539930-8539931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs149710279	chr9:8539931-8539932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs116881731	chr9:8539953-8539954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs531508369	chr9:8540008-8540009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs75057856	chr9:8540033-8540034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs117351733	chr9:8540054-8540055	Weak transcription Enhancers	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:63 , 50 per page) page: 1 2

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	chr9:8536600-8540000	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr9:8537000-8550200	Weak transcription	Fetal Brain Female	brain
7	chr9:8538000-8541000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr9:8538000-8542200	Weak transcription	Brain Hippocampus Middle	brain
9	chr9:8538000-8542400	Weak transcription	Brain Anterior Caudate	brain
10	chr9:8538000-8542600	Weak transcription	Brain Angular Gyrus	brain
11	chr9:8538400-8539000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr9:8538800-8540600	Enhancers	Brain Substantia Nigra	brain
13	chr9:8539000-8542600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr9:8540000-8541200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr9:8540600-8541400	Weak transcription	Brain Substantia Nigra	brain
16	chr9:8541000-8543400	Enhancers	Brain Cingulate Gyrus	brain
17	chr9:8541200-8541600	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr9:8541400-8543400	Enhancers	Brain Substantia Nigra	brain
19	chr9:8541600-8542600	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr9:8541600-8557600	Weak transcription	Fetal Stomach	stomach
21	chr9:8542000-8543000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr9:8542200-8543400	Enhancers	Brain Hippocampus Middle	brain
23	chr9:8542400-8543000	Enhancers	Brain Anterior Caudate	brain
24	chr9:8542600-8543000	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr9:8542600-8543600	Enhancers	Brain Angular Gyrus	brain
26	chr9:8542600-8543800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr9:8543000-8549200	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr9:8543000-8549600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr9:8543000-8553200	Weak transcription	Brain Anterior Caudate	brain
30	chr9:8543400-8549800	Weak transcription	Brain Cingulate Gyrus	brain
31	chr9:8543400-8550800	Weak transcription	Brain Substantia Nigra	brain
32	chr9:8543600-8549200	Weak transcription	Brain Angular Gyrus	brain
33	chr9:8545000-8545600	Enhancers	Fetal Lung	lung
34	chr9:8545600-8555800	Weak transcription	Fetal Lung	lung
35	chr9:8546000-8557000	Weak transcription	Fetal Muscle Leg	muscle
36	chr9:8549200-8549400	Enhancers	Brain Angular Gyrus	brain
37	chr9:8549200-8549600	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr9:8549400-8550600	Weak transcription	Brain Angular Gyrus	brain
39	chr9:8549600-8552400	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr9:8549800-8551000	Enhancers	Brain Cingulate Gyrus	brain
41	chr9:8549800-8551000	Enhancers	Brain Hippocampus Middle	brain
42	chr9:8550600-8553800	Enhancers	Brain Angular Gyrus	brain
43	chr9:8550800-8553800	Enhancers	Brain Substantia Nigra	brain
44	chr9:8551000-8552000	Weak transcription	Brain Cingulate Gyrus	brain
45	chr9:8551000-8552000	Weak transcription	Brain Hippocampus Middle	brain
46	chr9:8552000-8553400	Enhancers	Brain Cingulate Gyrus	brain
47	chr9:8552000-8554000	Enhancers	Brain Hippocampus Middle	brain
48	chr9:8552400-8552600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr9:8552400-8553800	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr9:8552800-8553000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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