Variant report

Variant	esv3448012
Chromosome Location	chr9:9390992-9391562
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569358849	chr9:9390993-9390994	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs530184827	chr9:9390996-9390997	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs548723144	chr9:9391019-9391020	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs10816115	chr9:9391030-9391031	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs530165576	chr9:9391033-9391034	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs10816116	chr9:9391051-9391052	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs142463544	chr9:9391063-9391064	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs377213955	chr9:9391069-9391070	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537620056	chr9:9391085-9391086	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10816117	chr9:9391120-9391121	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs147400366	chr9:9391153-9391154	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs374636515	chr9:9391154-9391155	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs77254810	chr9:9391156-9391157	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531978562	chr9:9391188-9391189	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187076892	chr9:9391189-9391190	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191885497	chr9:9391230-9391231	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549032673	chr9:9391232-9391233	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568268183	chr9:9391275-9391276	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571905713	chr9:9391360-9391361	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs10816118	chr9:9391364-9391365	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs565418754	chr9:9391373-9391374	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs145981038	chr9:9391389-9391390	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs544937712	chr9:9391418-9391419	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs547651527	chr9:9391424-9391425	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs563046121	chr9:9391474-9391475	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs570464390	chr9:9391484-9391485	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs548945257	chr9:9391509-9391510	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs530323003	chr9:9391534-9391535	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs548664681	chr9:9391545-9391546	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs182900613	chr9:9391562-9391563	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:110)

Disease	PMID	Source
abnormal development	18461090	CNVD
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
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
XY gonadal dysgenesis	20685758	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
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Lung cancer	20668451	CNVD
Schizophrenia	20838587	CNVD
Glioblastoma	18772890	CNVD
Glioblastoma multiforme	21390271	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	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

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:9390800-9391000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr9:9390800-9391000	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr9:9391000-9391400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr9:9391000-9391600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr9:9391400-9391800	Enhancers	Pancreatic Islets	Pancreatic Islet

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