Variant report

Variant	nsv471275
Chromosome Location	chr9:8965753-8993617
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 332 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:332 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10977409	chr9:8965753-8965754	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs151253663	chr9:8965756-8965757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs2117105	chr9:8965780-8965781	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs528598110	chr9:8965784-8965785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs540308127	chr9:8965786-8965787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs372242304	chr9:8965802-8965803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs59628169	chr9:8965840-8965841	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs527709163	chr9:8965852-8965853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs139391635	chr9:8965878-8965879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550608636	chr9:8965898-8965899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182567137	chr9:8965914-8965915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs117193069	chr9:8965919-8965920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs150063724	chr9:8965939-8965940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566456799	chr9:8965962-8965963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564463529	chr9:8965984-8965985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533924423	chr9:8965998-8965999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186888484	chr9:8966013-8966014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371523865	chr9:8966019-8966020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191380694	chr9:8966027-8966028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs1897681	chr9:8966066-8966067	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs147706673	chr9:8966121-8966122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs142531518	chr9:8966163-8966164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs146846820	chr9:8966164-8966165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544385400	chr9:8966217-8966218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs147792808	chr9:8966219-8966220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs183565832	chr9:8966224-8966225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs536011870	chr9:8966278-8966279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs74753279	chr9:8966287-8966288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs565338237	chr9:8966297-8966298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs375696733	chr9:8966319-8966320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs532208108	chr9:8966345-8966346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs76452270	chr9:8966354-8966355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs201987422	chr9:8966355-8966356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs199897507	chr9:8966359-8966360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs190537911	chr9:8966403-8966404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs530048066	chr9:8966418-8966419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs548502497	chr9:8966443-8966444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs566516150	chr9:8966459-8966460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs534967858	chr9:8966480-8966481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs527243691	chr9:8966485-8966486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs372763446	chr9:8966541-8966542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs143428840	chr9:8966583-8966584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs12350901	chr9:8966586-8966587	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs557566586	chr9:8966677-8966678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs569087803	chr9:8966716-8966717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs536595825	chr9:8966742-8966743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs116632233	chr9:8966763-8966764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs117105144	chr9:8966765-8966766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs540187610	chr9:8966777-8966778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs202139637	chr9:8966781-8966782	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
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
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	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
Developmental delay	21147756	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8961800-8966200	Weak transcription	Dnd41	blood
2	chr9:8966200-8967600	Enhancers	Dnd41	blood
3	chr9:8967600-8968600	Weak transcription	Dnd41	blood
4	chr9:8968600-8970000	Enhancers	Dnd41	blood
5	chr9:8980600-8981200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr9:8980600-8982000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr9:8987200-8987600	Enhancers	H9 Cell Line	embryonic stem cell
8	chr9:8987200-8987600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr9:8987200-8987600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr9:8987200-8987800	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr9:8987200-8988000	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr9:8987400-8987800	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr9:8987400-8988000	Enhancers	ES-I3 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links