Variant report

Variant	esv3415904
Chromosome Location	chr9:18134672-18135071
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566112365	chr9:18134673-18134674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs139981648	chr9:18134682-18134683	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs533359149	chr9:18134695-18134696	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186076418	chr9:18134712-18134713	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569722519	chr9:18134742-18134743	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542973958	chr9:18134801-18134802	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs10963470	chr9:18134821-18134822	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs190748083	chr9:18134841-18134842	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542451576	chr9:18134853-18134854	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs763976	chr9:18134914-18134915	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs534567978	chr9:18134921-18134922	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs1944742	chr9:18134954-18134955	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs114798819	chr9:18135001-18135002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs374774389	chr9:18135003-18135004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs72699489	chr9:18135019-18135020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs576436237	chr9:18135025-18135026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs72699490	chr9:18135038-18135039	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs956323	chr9:18135051-18135052	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs151040988	chr9:18135056-18135057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
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
Chronic lymphocytic leukemia	21546498	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
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
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Cancer	22183965	CNVD
Ovarian cancer	19835627	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18127800-18138400	Weak transcription	Aorta	Aorta
2	chr9:18130000-18135800	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr9:18133200-18137200	Enhancers	Colon Smooth Muscle	Colon
4	chr9:18134000-18135000	Enhancers	Stomach Smooth Muscle	stomach
5	chr9:18134200-18135200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr9:18134400-18135000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr9:18134800-18135000	Enhancers	Sigmoid Colon	Sigmoid Colon
8	chr9:18135000-18135600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr9:18135000-18136200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr9:18135000-18136200	Weak transcription	Stomach Smooth Muscle	stomach

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