Variant report

Variant	nsv1015283
Chromosome Location	chr9:11573585-11795736
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:11687941..11690802-chr9:11691495..11694345,3	K562	blood:
2	chr9:11701463..11703909-chr9:11703963..11706145,2	K562	blood:
3	chr9:11653547..11655405-chr9:11656471..11658764,2	K562	blood:
4	chr9:11653547..11655405-chr9:11656471..11658764,2	K562	blood:
5	chr9:11701463..11703909-chr9:11703963..11706145,2	K562	blood:
6	chr9:11687941..11690802-chr9:11691495..11694345,3	K562	blood:

Extended variants
information (count: 1755 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:1755 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570712606	chr9:11573585-11573586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs539821269	chr9:11573610-11573611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572419734	chr9:11573626-11573627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556325762	chr9:11573628-11573629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569109336	chr9:11573666-11573667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543315498	chr9:11573699-11573700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537767730	chr9:11573728-11573729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs376355585	chr9:11573730-11573731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554306876	chr9:11573732-11573733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs144887027	chr9:11573781-11573782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs75118796	chr9:11573793-11573794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553446252	chr9:11573811-11573812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs138735900	chr9:11573812-11573813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs140351624	chr9:11573880-11573881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556844793	chr9:11573918-11573919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs10119070	chr9:11573922-11573923	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs557716518	chr9:11573959-11573960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs145484155	chr9:11574036-11574037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542556303	chr9:11574037-11574038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185197729	chr9:11574048-11574049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs527892245	chr9:11574058-11574059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs77884875	chr9:11574065-11574066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190687924	chr9:11574069-11574070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs183397068	chr9:11574111-11574112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs187932736	chr9:11574119-11574120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569963830	chr9:11574150-11574151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs75720273	chr9:11574176-11574177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192062049	chr9:11574181-11574182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs10959951	chr9:11574204-11574205	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs2044197	chr9:11574224-11574225	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs373867041	chr9:11574249-11574250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553718020	chr9:11574278-11574279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs75942032	chr9:11574309-11574310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545602348	chr9:11574313-11574314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547870787	chr9:11574314-11574315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556091629	chr9:11574324-11574325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564476408	chr9:11574344-11574345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575958367	chr9:11574351-11574352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs10959952	chr9:11574353-11574354	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs141489618	chr9:11574367-11574368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs150427555	chr9:11574394-11574395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs80185543	chr9:11574402-11574403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564544489	chr9:11574417-11574418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533429050	chr9:11574437-11574438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs34482389	chr9:11574439-11574440	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs569985515	chr9:11574447-11574448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs114581975	chr9:11574470-11574471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs1443375	chr9:11574487-11574488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549005558	chr9:11574522-11574523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10959953	chr9:11574557-11574558	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:107)

Disease	PMID	Source
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
abnormal development	18461090	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
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
Cancer	20164920	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
Breast cancer	21611746	CNVD
Melanoma	22183965	CNVD
Barrett''s syndrome	19417022	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	18511947	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Renal cell carcinoma	21215367	CNVD
Schizophrenia	23813976	CNVD
Type 2 diabetes	21526130	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:11570600-11577400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr9:11577400-11577600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr9:11577600-11578000	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr9:11578000-11578800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr9:11578800-11579400	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr9:11579400-11580000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr9:11580000-11580200	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr9:11597200-11597600	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr9:11611600-11611800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr9:11612600-11612800	Enhancers	Fetal Heart	heart
11	chr9:11618400-11618800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr9:11618600-11618800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr9:11625800-11627800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr9:11631200-11632200	Enhancers	Fetal Brain Male	brain
15	chr9:11631400-11632000	Enhancers	Fetal Brain Female	brain
16	chr9:11632000-11633000	Weak transcription	Fetal Brain Female	brain
17	chr9:11632200-11633200	Weak transcription	Fetal Brain Male	brain
18	chr9:11633000-11633200	Enhancers	Fetal Brain Female	brain
19	chr9:11633200-11633600	Enhancers	Fetal Brain Male	brain
20	chr9:11650200-11650600	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr9:11656000-11656800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr9:11686800-11687400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr9:11696400-11696600	Enhancers	Fetal Brain Male	brain
24	chr9:11696600-11697800	Weak transcription	Fetal Brain Male	brain
25	chr9:11697800-11698400	Enhancers	Fetal Brain Male	brain
26	chr9:11698400-11701800	Weak transcription	Fetal Brain Male	brain
27	chr9:11698800-11701400	Enhancers	Fetal Brain Female	brain
28	chr9:11700600-11700800	Enhancers	Brain Angular Gyrus	brain
29	chr9:11700600-11701800	Enhancers	Brain Hippocampus Middle	brain
30	chr9:11700800-11701000	Enhancers	Brain Cingulate Gyrus	brain
31	chr9:11700800-11704400	Weak transcription	Brain Angular Gyrus	brain
32	chr9:11701000-11702000	Weak transcription	Brain Cingulate Gyrus	brain
33	chr9:11701200-11701600	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr9:11701400-11704600	Weak transcription	Fetal Brain Female	brain
35	chr9:11701600-11702000	Active TSS	Brain Inferior Temporal Lobe	brain
36	chr9:11701800-11702200	Flanking Active TSS	Brain Hippocampus Middle	brain
37	chr9:11701800-11702200	Active TSS	Brain Substantia Nigra	brain
38	chr9:11701800-11704800	Enhancers	Fetal Brain Male	brain
39	chr9:11702000-11703600	Enhancers	Brain Cingulate Gyrus	brain
40	chr9:11702000-11703800	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr9:11702200-11702400	Weak transcription	Brain Substantia Nigra	brain
42	chr9:11702200-11702800	Enhancers	Brain Hippocampus Middle	brain
43	chr9:11702400-11703200	Enhancers	Brain Substantia Nigra	brain
44	chr9:11702800-11703800	Weak transcription	Brain Hippocampus Middle	brain
45	chr9:11703200-11703600	Weak transcription	Brain Substantia Nigra	brain
46	chr9:11703600-11704000	Weak transcription	Brain Cingulate Gyrus	brain
47	chr9:11703600-11705000	Enhancers	Brain Substantia Nigra	brain
48	chr9:11703800-11705000	Enhancers	Brain Hippocampus Middle	brain
49	chr9:11703800-11705000	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr9:11704000-11704800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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