Variant report

Variant	esv3417497
Chromosome Location	chr9:10019252-10023500
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189303470	chr9:10022629-10022630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs555265156	chr9:10022658-10022659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs71497169	chr9:10022666-10022667	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs533792661	chr9:10022698-10022699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs148814146	chr9:10022701-10022702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192526818	chr9:10022742-10022743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs560044586	chr9:10022802-10022803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184458659	chr9:10023011-10023012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs189322810	chr9:10023012-10023013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs576160980	chr9:10023026-10023027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574953555	chr9:10023110-10023111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs181230904	chr9:10023120-10023121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs551918118	chr9:10023149-10023150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs555386675	chr9:10023158-10023159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs565361486	chr9:10023171-10023172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs572077821	chr9:10023172-10023173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs541052958	chr9:10023175-10023176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs186473277	chr9:10023202-10023203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs577764324	chr9:10023227-10023228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs528852513	chr9:10023244-10023245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs563867670	chr9:10023254-10023255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs16930832	chr9:10023288-10023289	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs188624255	chr9:10023328-10023329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs142514278	chr9:10023370-10023371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs527261789	chr9:10023378-10023379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs531164035	chr9:10023397-10023398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs550243931	chr9:10023405-10023406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs181428097	chr9:10023412-10023413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs79454841	chr9:10023421-10023422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs115606703	chr9:10023426-10023427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs10809012	chr9:10023441-10023442	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs569795967	chr9:10023452-10023453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs535309803	chr9:10023453-10023454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs555611877	chr9:10023464-10023465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs10809013	chr9:10023484-10023485	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs534695785	chr9:10023492-10023493	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:113)

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
Lung adenocarcinoma	17982442	CNVD
Breast cancer	21611746	CNVD
Renal cell carcinoma	21215367	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:10022600-10024400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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