Variant report

Variant	esv1816090
Chromosome Location	chr9:14892721-14899118
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	chr9:14897379..14899021-chr9:14903144..14904953,2	MCF-7	breast:

Extended variants
information (count: 297 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:297 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9776129	chr9:14892721-14892722	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs186612864	chr9:14892741-14892742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs562782403	chr9:14892749-14892750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs112003252	chr9:14892787-14892788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs537131115	chr9:14892798-14892799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs551508719	chr9:14892808-14892809	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560604114	chr9:14892817-14892818	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs9776136	chr9:14892856-14892857	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs573948466	chr9:14892857-14892858	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs113464251	chr9:14892865-14892866	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs138416794	chr9:14892892-14892893	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369309678	chr9:14892899-14892900	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550012767	chr9:14892942-14892943	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571628640	chr9:14892949-14892950	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs9776139	chr9:14892957-14892958	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs557452041	chr9:14892977-14892978	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10961773	chr9:14892993-14892994	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs528105142	chr9:14893002-14893003	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs149270412	chr9:14893023-14893024	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs555480888	chr9:14893054-14893055	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573841141	chr9:14893144-14893145	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111567401	chr9:14893168-14893169	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs58771212	chr9:14893169-14893170	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs199851684	chr9:14893181-14893182	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs116137748	chr9:14893223-14893224	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs7864723	chr9:14893229-14893230	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs562745065	chr9:14893256-14893257	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs111274543	chr9:14893340-14893341	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs578013306	chr9:14893351-14893352	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs56888070	chr9:14893358-14893359	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs560280704	chr9:14893365-14893366	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs191420321	chr9:14893408-14893409	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs183542409	chr9:14893412-14893413	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs72713630	chr9:14893415-14893416	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs531760388	chr9:14893420-14893421	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs549976612	chr9:14893431-14893432	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs187803920	chr9:14893453-14893454	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs144358949	chr9:14893513-14893514	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs62534801	chr9:14893545-14893546	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs148346994	chr9:14893608-14893609	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs138152208	chr9:14893654-14893655	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs375586152	chr9:14893659-14893660	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs533793945	chr9:14893688-14893689	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs544317336	chr9:14893715-14893716	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs555123475	chr9:14893726-14893727	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs567392116	chr9:14893740-14893741	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs538006384	chr9:14893745-14893746	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs142274363	chr9:14893763-14893764	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs149349432	chr9:14893808-14893809	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs377559898	chr9:14893809-14893810	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	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
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21611746	CNVD
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	22522925	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14881200-14904600	Weak transcription	Rectal Smooth Muscle	rectum
2	chr9:14882000-14899000	Weak transcription	Pancreas	Pancrea
3	chr9:14882000-14902400	Weak transcription	Fetal Stomach	stomach
4	chr9:14884200-14907400	Weak transcription	Fetal Muscle Trunk	muscle
5	chr9:14884400-14899200	Weak transcription	Aorta	Aorta
6	chr9:14887400-14899200	Weak transcription	Adipose Nuclei	Adipose
7	chr9:14887400-14902200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr9:14889800-14900000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr9:14890200-14892800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr9:14890200-14899200	Weak transcription	Fetal Kidney	kidney
11	chr9:14891000-14899200	Weak transcription	Fetal Lung	lung
12	chr9:14891400-14896200	Enhancers	HepG2	liver
13	chr9:14891600-14899000	Weak transcription	Colon Smooth Muscle	Colon
14	chr9:14892800-14893200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr9:14893200-14896000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr9:14893200-14896000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr9:14894400-14899000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr9:14895000-14895200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr9:14895200-14906200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr9:14895600-14895800	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr9:14895600-14896200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr9:14895600-14896200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr9:14895600-14896200	Enhancers	Placenta Amnion	Placenta Amnion
24	chr9:14895800-14896400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr9:14895800-14896800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr9:14895800-14897000	Enhancers	H1 Cell Line	embryonic stem cell
27	chr9:14895800-14897400	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr9:14896000-14896400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr9:14896000-14897400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr9:14896000-14897400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr9:14896200-14896800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr9:14896200-14899200	Weak transcription	HepG2	liver
33	chr9:14896400-14899000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr9:14896600-14897000	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr9:14896600-14897200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr9:14896800-14897000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr9:14896800-14897200	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr9:14896800-14897200	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr9:14896800-14897400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr9:14897000-14902000	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr9:14897000-14902400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr9:14897200-14901800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr9:14897200-14902000	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr9:14897200-14902200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr9:14897200-14902200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr9:14897400-14897800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr9:14897400-14902000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr9:14897400-14902000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr9:14897800-14901400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr9:14899000-14899400	Enhancers	Fetal Muscle Leg	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links