Variant report

Variant	nsv613431
Chromosome Location	chr9:11467111-11586357
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 2563 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:2563 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570340064	chr9:11471016-11471017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs150123026	chr9:11471019-11471020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs549708027	chr9:11471032-11471033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs569625583	chr9:11471060-11471061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs117070587	chr9:11471077-11471078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs10959843	chr9:11471095-11471096	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs145507426	chr9:11471111-11471112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs534747645	chr9:11471131-11471132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs557543855	chr9:11471137-11471138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs578236618	chr9:11471165-11471166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs544020454	chr9:11471171-11471172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs563830777	chr9:11471183-11471184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs118099855	chr9:11471186-11471187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs542918649	chr9:11471190-11471191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs12335884	chr9:11471209-11471210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs74484291	chr9:11471219-11471220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs140258353	chr9:11471257-11471258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs73393643	chr9:11471273-11471274	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs56402189	chr9:11471297-11471298	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs530875185	chr9:11471321-11471322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs73393646	chr9:11471353-11471354	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs73644007	chr9:11471408-11471409	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs186638651	chr9:11471487-11471488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs527941425	chr9:11471491-11471492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565695275	chr9:11471624-11471625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534319646	chr9:11471638-11471639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557925700	chr9:11471645-11471646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs571373143	chr9:11471705-11471706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375008513	chr9:11471709-11471710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553354516	chr9:11471713-11471714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537095454	chr9:11471756-11471757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs10756254	chr9:11471766-11471767	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs574136772	chr9:11471814-11471815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543334493	chr9:11471817-11471818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs28844355	chr9:11471846-11471847	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs573232309	chr9:11471848-11471849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192737117	chr9:11471887-11471888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376203140	chr9:11471897-11471898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564892324	chr9:11471898-11471899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530935665	chr9:11471906-11471907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs544264348	chr9:11471926-11471927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs563174793	chr9:11471934-11471935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529054872	chr9:11471945-11471946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549303004	chr9:11471948-11471949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs10959844	chr9:11471955-11471956	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs145190166	chr9:11471977-11471978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs115419428	chr9:11471980-11471981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs77717147	chr9:11472007-11472008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537179404	chr9:11472015-11472016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138134258	chr9:11472056-11472057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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	22037309	CNVD

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:11471000-11471400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr9:11471400-11474200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr9:11472400-11472600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr9:11481800-11482200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr9:11482200-11485800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr9:11485800-11486200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr9:11485800-11487400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr9:11486200-11490600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr9:11487400-11489000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr9:11489000-11492200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr9:11490600-11490800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr9:11491200-11492000	Enhancers	Fetal Heart	heart
13	chr9:11492000-11492800	Weak transcription	Fetal Heart	heart
14	chr9:11492800-11493000	Enhancers	Fetal Heart	heart
15	chr9:11495200-11495600	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr9:11495200-11495600	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr9:11495400-11495800	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr9:11499400-11499800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr9:11499600-11501400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr9:11501000-11501600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr9:11503800-11504200	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr9:11504000-11504800	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr9:11504200-11504600	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr9:11504200-11505000	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr9:11504600-11505800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr9:11521800-11522200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr9:11534600-11535000	Enhancers	Fetal Brain Male	brain
28	chr9:11535000-11538200	Weak transcription	Fetal Brain Male	brain
29	chr9:11537800-11538800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr9:11538200-11538600	Enhancers	Fetal Brain Male	brain
31	chr9:11538600-11545600	Weak transcription	Fetal Brain Male	brain
32	chr9:11545600-11547000	Enhancers	Fetal Brain Male	brain
33	chr9:11545800-11546600	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr9:11546000-11546800	Enhancers	Fetal Brain Female	brain
35	chr9:11546400-11546800	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr9:11546600-11547600	Enhancers	Brain Germinal Matrix	brain
37	chr9:11549200-11550800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr9:11549200-11554400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr9:11553200-11553600	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr9:11553200-11553600	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr9:11553400-11553800	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr9:11558200-11559000	Enhancers	Fetal Brain Male	brain
43	chr9:11559000-11560000	Weak transcription	Fetal Brain Male	brain
44	chr9:11560000-11560200	Enhancers	Fetal Brain Male	brain
45	chr9:11561800-11562800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr9:11567000-11567400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr9:11569600-11570600	Enhancers	Pancreatic Islets	Pancreatic Islet
48	chr9:11570600-11577400	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr9:11577400-11577600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr9:11577600-11578000	Enhancers	Pancreatic Islets	Pancreatic Islet

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