Variant report

Variant	esv3482003
Chromosome Location	chr9:16289377-16290275
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148653823	chr9:16289396-16289397	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs566352181	chr9:16289399-16289400	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs6475025	chr9:16289428-16289429	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs142221887	chr9:16289451-16289452	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs574161683	chr9:16289454-16289455	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs62551098	chr9:16289463-16289464	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs556363041	chr9:16289480-16289481	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs542585523	chr9:16289519-16289520	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs577872838	chr9:16289541-16289542	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs553255695	chr9:16289558-16289559	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs117103325	chr9:16289646-16289647	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs554129363	chr9:16289652-16289653	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs560694624	chr9:16289666-16289667	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs572394309	chr9:16289682-16289683	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs543083738	chr9:16289738-16289739	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs150791389	chr9:16289748-16289749	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs368993894	chr9:16289754-16289755	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs372352611	chr9:16289756-16289757	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs139049115	chr9:16289767-16289768	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs544392626	chr9:16289821-16289822	Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs562675394	chr9:16289835-16289836	Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs533221253	chr9:16289848-16289849	Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs192648351	chr9:16289855-16289856	Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs7850784	chr9:16289910-16289911	Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs527323569	chr9:16289913-16289914	Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs6475026	chr9:16289923-16289924	Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs6475027	chr9:16289924-16289925	Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs537554333	chr9:16289928-16289929	Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs368472272	chr9:16289941-16289942	Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs545234834	chr9:16289973-16289974	Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs185056003	chr9:16289976-16289977	Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs538946072	chr9:16289982-16289983	Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs554193835	chr9:16289999-16290000	Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs111474265	chr9:16290039-16290040	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs189534109	chr9:16290040-16290041	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs181838498	chr9:16290051-16290052	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs538106743	chr9:16290055-16290056	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs11795055	chr9:16290057-16290058	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs543942414	chr9:16290066-16290067	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs190093171	chr9:16290119-16290120	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs149874614	chr9:16290155-16290156	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs545272766	chr9:16290167-16290168	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs181442987	chr9:16290180-16290181	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs527607210	chr9:16290189-16290190	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs146469863	chr9:16290200-16290201	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs576325477	chr9:16290201-16290202	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs186416701	chr9:16290217-16290218	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs531300254	chr9:16290229-16290230	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs371737387	chr9:16290245-16290246	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs6475028	chr9:16290269-16290270	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
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
Pancreatic ductal adenocarcinoma	19077451	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	21611746	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:16288400-16291200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr9:16289200-16290600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr9:16289400-16289600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr9:16289400-16290000	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr9:16289400-16290000	Enhancers	Placenta	Placenta
6	chr9:16289400-16290200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr9:16289400-16290200	Enhancers	Adipose Nuclei	Adipose
8	chr9:16289600-16290000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr9:16289600-16290000	Enhancers	Muscle Satellite Cultured Cells	--
10	chr9:16289600-16290000	Enhancers	NHDF-Ad	bronchial
11	chr9:16289600-16290200	Enhancers	Primary B cells from cord blood	blood
12	chr9:16289800-16290000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr9:16289800-16290000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr9:16290000-16290400	Enhancers	GM12878-XiMat	blood
15	chr9:16290000-16293400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr9:16290200-16293200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr9:16290200-16293400	Weak transcription	Adipose Nuclei	Adipose

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