Variant report

Variant	nsv525782
Chromosome Location	chr9:16061960-16071439
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	chr9:16064268..16067195-chr9:16080044..16082356,2	MCF-7	breast:
2	chr9:16063712..16066364-chr9:16092575..16094646,2	MCF-7	breast:

Extended variants
information (count: 393 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:393 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9886829	chr9:16061960-16061961	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs72710763	chr9:16061991-16061992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187772641	chr9:16062004-16062005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs192157689	chr9:16062026-16062027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs138875744	chr9:16062044-16062045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs184508056	chr9:16062050-16062051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529198381	chr9:16062160-16062161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537301311	chr9:16062183-16062184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550431721	chr9:16062216-16062217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs556894378	chr9:16062296-16062297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs188873315	chr9:16062313-16062314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs34035092	chr9:16062315-16062316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs11792610	chr9:16062344-16062345	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs551500350	chr9:16062359-16062360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs181205828	chr9:16062387-16062388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs542435494	chr9:16062393-16062394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs370084740	chr9:16062405-16062406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs142796304	chr9:16062469-16062470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs549366223	chr9:16062482-16062483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs567517390	chr9:16062515-16062516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs373946770	chr9:16062586-16062587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs538563118	chr9:16062598-16062599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs556875675	chr9:16062602-16062603	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs578234145	chr9:16062604-16062605	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs539229548	chr9:16062621-16062622	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs557614943	chr9:16062681-16062682	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs184620433	chr9:16062717-16062718	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs112202448	chr9:16062745-16062746	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs146974022	chr9:16062791-16062792	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs148065468	chr9:16062800-16062801	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs189238510	chr9:16062882-16062883	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs573278670	chr9:16062918-16062919	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs35734346	chr9:16062939-16062940	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs544133791	chr9:16062942-16062943	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs562433476	chr9:16062961-16062962	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs116857696	chr9:16062975-16062976	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs551554348	chr9:16063029-16063030	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs560047193	chr9:16063033-16063034	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs370956454	chr9:16063093-16063094	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs554474893	chr9:16063115-16063116	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs549182105	chr9:16063127-16063128	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs73417848	chr9:16063137-16063138	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs538230083	chr9:16063138-16063139	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs180768958	chr9:16063153-16063154	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs553065435	chr9:16063172-16063173	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs9298745	chr9:16063191-16063192	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs186270195	chr9:16063195-16063196	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs554354365	chr9:16063197-16063198	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs544651241	chr9:16063208-16063209	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs572515462	chr9:16063229-16063230	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Ovarian cancer	19835627	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:16048600-16071400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr9:16049600-16063800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr9:16058600-16062400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr9:16058600-16062800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr9:16058600-16063000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr9:16058600-16065200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr9:16058600-16069400	Weak transcription	Fetal Lung	lung
8	chr9:16058600-16069600	Weak transcription	NHLF	lung
9	chr9:16058800-16062200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr9:16058800-16062800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr9:16058800-16066000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr9:16059200-16062200	Weak transcription	NH-A	brain
13	chr9:16059200-16062600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr9:16060400-16062800	Enhancers	NHEK	skin
15	chr9:16060800-16063000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr9:16060800-16063400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr9:16060800-16065000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr9:16060800-16065600	Enhancers	HMEC	breast
19	chr9:16061200-16062000	Enhancers	GM12878-XiMat	blood
20	chr9:16061200-16063600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr9:16061200-16064000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr9:16061600-16062200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr9:16061800-16062600	Enhancers	A549	lung
24	chr9:16062200-16063800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr9:16062200-16065000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr9:16062200-16065000	Enhancers	NH-A	brain
27	chr9:16062400-16063400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr9:16062400-16064200	Enhancers	Hela-S3	cervix
29	chr9:16062600-16062800	Enhancers	Muscle Satellite Cultured Cells	--
30	chr9:16062600-16062800	Enhancers	Osteobl	bone
31	chr9:16062600-16063600	Flanking Active TSS	A549	lung
32	chr9:16062600-16064200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr9:16062800-16063000	Flanking Active TSS	NHEK	skin
34	chr9:16062800-16063600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr9:16062800-16063600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
36	chr9:16062800-16063600	Flanking Active TSS	Osteobl	bone
37	chr9:16062800-16063800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr9:16063000-16063200	Enhancers	NHEK	skin
39	chr9:16063000-16063400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr9:16063000-16063400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr9:16063000-16063600	Enhancers	HSMM	muscle
42	chr9:16063200-16063400	Flanking Active TSS	NHEK	skin
43	chr9:16063400-16064600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr9:16063400-16064600	Enhancers	NHEK	skin
45	chr9:16063400-16065600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr9:16063600-16063800	Enhancers	Osteobl	bone
47	chr9:16063600-16064000	Enhancers	A549	lung
48	chr9:16063600-16064200	Enhancers	Muscle Satellite Cultured Cells	--
49	chr9:16063600-16064600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr9:16063800-16064600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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