Variant report

Variant	nsv1025315
Chromosome Location	chr9:10261734-10325252
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:10308495..10311359-chr9:10312651..10315180,2	K562	blood:
2	chr9:10060352..10060896-chr9:10268535..10269397,2	MCF-7	breast:
3	chr9:10232139..10232838-chr9:10268581..10269404,3	MCF-7	breast:
4	chr9:10308495..10311359-chr9:10312651..10315180,2	K562	blood:
5	chr9:10045409..10046174-chr9:10268540..10269128,2	MCF-7	breast:

Extended variants
information (count: 1058 )
Associated
traits (count: 117 )

Variant overlapped rSNPs/rCNVs (count:1058 , 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	rs143137773	chr9:10261752-10261753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs181020875	chr9:10261758-10261759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs2498625	chr9:10261785-10261786	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs577329857	chr9:10261799-10261800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2475337	chr9:10261807-10261808	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs562839461	chr9:10261865-10261866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556514660	chr9:10261921-10261922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576066218	chr9:10261944-10261945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530453061	chr9:10262011-10262012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550147412	chr9:10262021-10262022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs13286890	chr9:10262028-10262029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555456412	chr9:10262047-10262048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185383185	chr9:10262048-10262049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572032527	chr9:10262068-10262069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs2475338	chr9:10262096-10262097	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs564371995	chr9:10262099-10262100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs188681889	chr9:10262116-10262117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538829773	chr9:10262123-10262124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576034227	chr9:10262154-10262155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs181258255	chr9:10262164-10262165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs578022740	chr9:10262185-10262186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538102226	chr9:10262193-10262194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573170026	chr9:10262201-10262202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186646819	chr9:10262230-10262231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543374990	chr9:10262242-10262243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574730937	chr9:10262261-10262262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191893823	chr9:10262335-10262336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs140374406	chr9:10262356-10262357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs145606098	chr9:10262390-10262391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183680148	chr9:10262438-10262439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs187660032	chr9:10262462-10262463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs2475339	chr9:10262484-10262485	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs542069982	chr9:10262517-10262518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs78013357	chr9:10262524-10262525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs138021524	chr9:10262527-10262528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs539998047	chr9:10262577-10262578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs202038096	chr9:10262593-10262594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149094231	chr9:10262619-10262620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552415380	chr9:10262655-10262656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569047035	chr9:10262663-10262664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs143138546	chr9:10262696-10262697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529099665	chr9:10262707-10262708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568406593	chr9:10262725-10262726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534196103	chr9:10262742-10262743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs368238268	chr9:10262777-10262778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189751805	chr9:10262800-10262801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182411867	chr9:10262823-10262824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539513938	chr9:10262842-10262843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548128892	chr9:10262848-10262849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186835085	chr9:10262873-10262874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:117)

Disease	PMID	Source
abnormal development	18461090	CNVD
Disorders of sex development	21048976	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
Glioblastoma multiforme	21080181	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
Intellectual disability	22102821	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
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	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
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
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	21764851	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Gastric cancer	16891809	CNVD
Mental retardation	17847001	CNVD
Cutaneous squamous cell carcinomas	17420988	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung adenocarcinoma	17982442	CNVD
Breast cancer	21611746	CNVD
Melanoma	22183965	CNVD
Attention deficit hyperactivity disorder	19546859	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:10255400-10268600	Weak transcription	Fetal Heart	heart
2	chr9:10259800-10263800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr9:10263200-10264200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
4	chr9:10263800-10264000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr9:10263800-10264000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr9:10263800-10264200	ZNF genes & repeats	Pancreas	Pancrea
7	chr9:10264200-10271600	Weak transcription	Pancreas	Pancrea
8	chr9:10264600-10265000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr9:10264600-10266200	Enhancers	HUVEC	blood vessel
10	chr9:10264800-10265400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr9:10264800-10265400	Enhancers	NHEK	skin
12	chr9:10264800-10265800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr9:10264800-10265800	Enhancers	NH-A	brain
14	chr9:10265000-10265600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr9:10265000-10265600	Enhancers	HMEC	breast
16	chr9:10265000-10265800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr9:10265000-10266000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr9:10265200-10265600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr9:10265200-10265800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr9:10265400-10268600	Weak transcription	NHEK	skin
21	chr9:10265600-10268400	Weak transcription	HMEC	breast
22	chr9:10265600-10269000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr9:10265800-10268600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr9:10265800-10268600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr9:10265800-10268600	Weak transcription	NH-A	brain
26	chr9:10266000-10269200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr9:10266200-10268400	Weak transcription	HUVEC	blood vessel
28	chr9:10268400-10268600	Enhancers	Liver	Liver
29	chr9:10268400-10268600	Enhancers	Fetal Lung	lung
30	chr9:10268400-10268600	Enhancers	HUVEC	blood vessel
31	chr9:10268400-10269200	Enhancers	HMEC	breast
32	chr9:10268600-10268800	Active TSS	Brain Hippocampus Middle	brain
33	chr9:10268600-10269000	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr9:10268600-10269000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr9:10268600-10269000	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr9:10268600-10269000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr9:10268600-10269000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr9:10268600-10269000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr9:10268600-10269000	Flanking Active TSS	Liver	Liver
40	chr9:10268600-10269000	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr9:10268600-10269000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr9:10268600-10269000	Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr9:10268600-10269000	Flanking Active TSS	Fetal Lung	lung
44	chr9:10268600-10269000	Flanking Active TSS	HUVEC	blood vessel
45	chr9:10268600-10269000	Enhancers	NH-A	brain
46	chr9:10268600-10269200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr9:10268600-10269200	Enhancers	Aorta	Aorta
48	chr9:10268600-10269400	Enhancers	NHEK	skin
49	chr9:10268600-10269600	Enhancers	Fetal Heart	heart
50	chr9:10268800-10269000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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