Variant report

Variant	esv991496
Chromosome Location	chr9:2348841-2349573
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375359282	chr9:2348883-2348884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs569855183	chr9:2348895-2348896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192097442	chr9:2348923-2348924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs12685164	chr9:2348937-2348938	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs116216848	chr9:2348947-2348948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184085714	chr9:2348948-2348949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554536095	chr9:2348960-2348961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576792356	chr9:2348991-2348992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574320295	chr9:2349033-2349034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs1576715	chr9:2349046-2349047	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs7030668	chr9:2349051-2349052	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs186745357	chr9:2349053-2349054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs77917617	chr9:2349074-2349075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs545975813	chr9:2349123-2349124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559465623	chr9:2349158-2349159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533340690	chr9:2349160-2349161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs1576716	chr9:2349164-2349165	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs143493243	chr9:2349169-2349170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530782529	chr9:2349173-2349174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550052128	chr9:2349252-2349253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569843469	chr9:2349264-2349265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371864209	chr9:2349277-2349278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538883628	chr9:2349286-2349287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191551728	chr9:2349301-2349302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565815970	chr9:2349307-2349308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs115274379	chr9:2349332-2349333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184075524	chr9:2349356-2349357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574379534	chr9:2349371-2349372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs1576717	chr9:2349373-2349374	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs7041812	chr9:2349392-2349393	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs540418333	chr9:2349419-2349420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112417140	chr9:2349440-2349441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs1331820	chr9:2349491-2349492	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs147170703	chr9:2349499-2349500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560227530	chr9:2349506-2349507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187058331	chr9:2349533-2349534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530975323	chr9:2349561-2349562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192730855	chr9:2349571-2349572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs1331821	chr9:2349572-2349573	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Gastric cancer	16715143	CNVD
Glioblastoma multiforme	22286061	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intracranial aneurysm	16715129	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Disorders of sex development	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Sudden cardiac death	19188705	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21952639	CNVD
Disorders of sex development	21048976	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	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
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
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	20531469	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	21373258	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hepatocellular carcinoma	18803288	CNVD
Schizophrenia	23813976	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:2341400-2356200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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