Variant report

Variant	esv1805303
Chromosome Location	chr9:9264439-9287406
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13291849	chr9:9270203-9270204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs116274393	chr9:9270216-9270217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs551824286	chr9:9270235-9270236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs570243478	chr9:9270366-9270367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs12341573	chr9:9270379-9270380	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs143408336	chr9:9270417-9270418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs567771498	chr9:9270429-9270430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs10816081	chr9:9270436-9270437	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs191522107	chr9:9270443-9270444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs183989494	chr9:9270465-9270466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs558441931	chr9:9270483-9270484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs188707005	chr9:9270514-9270515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs575089637	chr9:9270544-9270545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs181395063	chr9:9270546-9270547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs139613626	chr9:9270553-9270554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs572896223	chr9:9270558-9270559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs539815569	chr9:9270564-9270565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs564884690	chr9:9270565-9270566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs531421682	chr9:9283603-9283604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs549641038	chr9:9283647-9283648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs10124758	chr9:9283693-9283694	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs567745157	chr9:9283694-9283695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs11794583	chr9:9283732-9283733	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs548433820	chr9:9283760-9283761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs17668602	chr9:9283761-9283762	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs534092818	chr9:9283808-9283809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs546724953	chr9:9283810-9283811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs190350021	chr9:9283825-9283826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs182863610	chr9:9283826-9283827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs567106850	chr9:9283876-9283877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs146408443	chr9:9283915-9283916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs556421531	chr9:9283916-9283917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs187535041	chr9:9283941-9283942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs140808757	chr9:9283979-9283980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs34650941	chr9:9283980-9283981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs144625940	chr9:9283986-9283987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs117753278	chr9:9283994-9283995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs369620633	chr9:9283998-9283999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs146755194	chr9:9284010-9284011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs193055291	chr9:9284020-9284021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs140407667	chr9:9284037-9284038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs150345842	chr9:9284119-9284120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs115070294	chr9:9284123-9284124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs185816000	chr9:9284180-9284181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs547004958	chr9:9284220-9284221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs558578355	chr9:9284243-9284244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs62535766	chr9:9284305-9284306	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs187475944	chr9:9284383-9284384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs571013795	chr9:9284385-9284386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs192753796	chr9:9284389-9284390	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:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:9270200-9270600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr9:9283600-9284400	Enhancers	Fetal Kidney	kidney

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