Variant report

Variant	esv3448298
Chromosome Location	chr9:17616551-17617090
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11999935	chr9:17616571-17616572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs143826932	chr9:17616584-17616585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs191125861	chr9:17616593-17616594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs538718870	chr9:17616625-17616626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs73641999	chr9:17616631-17616632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs572251971	chr9:17616632-17616633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs536414639	chr9:17616663-17616664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs576968370	chr9:17616689-17616690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs148129024	chr9:17616694-17616695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs576240670	chr9:17616696-17616697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs201949218	chr9:17616713-17616714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs560336146	chr9:17616724-17616725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs545410787	chr9:17616737-17616738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs182013623	chr9:17616752-17616753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs540817483	chr9:17616773-17616774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs34059333	chr9:17616777-17616778	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs115557332	chr9:17616778-17616779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs71504866	chr9:17616789-17616790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs185255547	chr9:17616802-17616803	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191190005	chr9:17616811-17616812	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560249422	chr9:17616817-17616818	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559493614	chr9:17616840-17616841	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs527797334	chr9:17616868-17616869	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs141045234	chr9:17616875-17616876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561329781	chr9:17616876-17616877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs3808753	chr9:17616880-17616881	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs565141564	chr9:17616896-17616897	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182985756	chr9:17616911-17616912	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113782952	chr9:17616914-17616915	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs76499227	chr9:17616918-17616919	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs150217020	chr9:17616967-17616968	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186566782	chr9:17617005-17617006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs368772559	chr9:17617019-17617020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs554764076	chr9:17617063-17617064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
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
Breast cancer	21364760	CNVD
Cancer	22183965	CNVD
Lung adenocarcinoma	21935476	CNVD
Thoracic aortic aneurysm	21698135	CNVD
Pancreatic cancer	21811587	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:17614800-17620600	Weak transcription	Fetal Brain Female	brain
2	chr9:17615200-17616600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr9:17615200-17621600	Weak transcription	Brain Germinal Matrix	brain
4	chr9:17615800-17617800	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr9:17616000-17617000	Weak transcription	Fetal Brain Male	brain
6	chr9:17616200-17619400	Enhancers	Hela-S3	cervix
7	chr9:17616800-17617000	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr9:17617000-17618400	Enhancers	Fetal Brain Male	brain

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