Variant report

Variant	esv2422486
Chromosome Location	chr9:11512989-11675590
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:11653547..11655405-chr9:11656471..11658764,2	K562	blood:
2	chr9:11653547..11655405-chr9:11656471..11658764,2	K562	blood:

Extended variants
information (count: 2049 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:2049 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565954752	chr9:11521840-11521841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs528662154	chr9:11521851-11521852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs551820140	chr9:11521882-11521883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs142247167	chr9:11521905-11521906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs537095064	chr9:11521968-11521969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs186865397	chr9:11521975-11521976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs58627529	chr9:11521977-11521978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs567627003	chr9:11522000-11522001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs536761217	chr9:11522008-11522009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs4740502	chr9:11522013-11522014	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs572176977	chr9:11522022-11522023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs554530728	chr9:11522027-11522028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs73403589	chr9:11522042-11522043	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs374335716	chr9:11522045-11522046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs189189174	chr9:11522178-11522179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs577867226	chr9:11522179-11522180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs543273016	chr9:11522185-11522186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs562960065	chr9:11522190-11522191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs76123289	chr9:11534680-11534681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs547402420	chr9:11534709-11534710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs150394292	chr9:11534751-11534752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs570751926	chr9:11534765-11534766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs188279982	chr9:11534767-11534768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs560221795	chr9:11534772-11534773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs138340918	chr9:11534782-11534783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs552030053	chr9:11534792-11534793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs144543619	chr9:11534795-11534796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs73644033	chr9:11534808-11534809	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs370671638	chr9:11534827-11534828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs374304500	chr9:11534829-11534830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs531265259	chr9:11534845-11534846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs143092802	chr9:11534874-11534875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs568284652	chr9:11534890-11534891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs73405409	chr9:11534927-11534928	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs72700206	chr9:11535004-11535005	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs570551211	chr9:11535009-11535010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563121093	chr9:11535010-11535011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs117783197	chr9:11535032-11535033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556237551	chr9:11535034-11535035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576491260	chr9:11535035-11535036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs530554760	chr9:11535054-11535055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs138984908	chr9:11535068-11535069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192565038	chr9:11535167-11535168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574665098	chr9:11535169-11535170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs540568695	chr9:11535208-11535209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs142140552	chr9:11535246-11535247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183737270	chr9:11535256-11535257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs188267652	chr9:11535271-11535272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs546741989	chr9:11535323-11535324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs199946242	chr9:11535324-11535325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	18511947	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:11521800-11522200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr9:11534600-11535000	Enhancers	Fetal Brain Male	brain
3	chr9:11535000-11538200	Weak transcription	Fetal Brain Male	brain
4	chr9:11537800-11538800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr9:11538200-11538600	Enhancers	Fetal Brain Male	brain
6	chr9:11538600-11545600	Weak transcription	Fetal Brain Male	brain
7	chr9:11545600-11547000	Enhancers	Fetal Brain Male	brain
8	chr9:11545800-11546600	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr9:11546000-11546800	Enhancers	Fetal Brain Female	brain
10	chr9:11546400-11546800	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr9:11546600-11547600	Enhancers	Brain Germinal Matrix	brain
12	chr9:11549200-11550800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr9:11549200-11554400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr9:11553200-11553600	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr9:11553200-11553600	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr9:11553400-11553800	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr9:11558200-11559000	Enhancers	Fetal Brain Male	brain
18	chr9:11559000-11560000	Weak transcription	Fetal Brain Male	brain
19	chr9:11560000-11560200	Enhancers	Fetal Brain Male	brain
20	chr9:11561800-11562800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr9:11567000-11567400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr9:11569600-11570600	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr9:11570600-11577400	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr9:11577400-11577600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr9:11577600-11578000	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr9:11578000-11578800	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr9:11578800-11579400	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr9:11579400-11580000	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr9:11580000-11580200	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr9:11597200-11597600	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr9:11611600-11611800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr9:11612600-11612800	Enhancers	Fetal Heart	heart
33	chr9:11618400-11618800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr9:11618600-11618800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr9:11625800-11627800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr9:11631200-11632200	Enhancers	Fetal Brain Male	brain
37	chr9:11631400-11632000	Enhancers	Fetal Brain Female	brain
38	chr9:11632000-11633000	Weak transcription	Fetal Brain Female	brain
39	chr9:11632200-11633200	Weak transcription	Fetal Brain Male	brain
40	chr9:11633000-11633200	Enhancers	Fetal Brain Female	brain
41	chr9:11633200-11633600	Enhancers	Fetal Brain Male	brain
42	chr9:11650200-11650600	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr9:11656000-11656800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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