Variant report

Variant	esv2494784
Chromosome Location	chr9:13771508-13773012
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 94 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75257737	chr9:13771513-13771514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs543369282	chr9:13771534-13771535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs559766984	chr9:13771541-13771542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs573314446	chr9:13771555-13771556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373192702	chr9:13771562-13771563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545513323	chr9:13771589-13771590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs1034166	chr9:13771590-13771591	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs530916509	chr9:13771618-13771619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs1034165	chr9:13771656-13771657	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs371701376	chr9:13771664-13771665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs10961234	chr9:13771733-13771734	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs1034164	chr9:13771744-13771745	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs187161914	chr9:13771779-13771780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs76646134	chr9:13771852-13771853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191212578	chr9:13771894-13771895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs79959729	chr9:13771978-13771979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10810028	chr9:13771985-13771986	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs568895137	chr9:13771997-13771998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537565190	chr9:13771998-13771999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs73648003	chr9:13772011-13772012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184586853	chr9:13772014-13772015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536127851	chr9:13772022-13772023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574317679	chr9:13772037-13772038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs10756500	chr9:13772055-13772056	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs12684879	chr9:13772056-13772057	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs144893890	chr9:13772071-13772072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs4741329	chr9:13772113-13772114	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs558694565	chr9:13772136-13772137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575667234	chr9:13772166-13772167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs544409933	chr9:13772171-13772172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561123651	chr9:13772178-13772179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561408138	chr9:13772194-13772195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs140898609	chr9:13772200-13772201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540133700	chr9:13772203-13772204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530115508	chr9:13772216-13772217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559968294	chr9:13772217-13772218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs4741330	chr9:13772226-13772227	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs189252252	chr9:13772254-13772255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12682833	chr9:13772265-13772266	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs201856053	chr9:13772275-13772276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531419362	chr9:13772278-13772279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548020782	chr9:13772291-13772292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs193219253	chr9:13772303-13772304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs537680517	chr9:13772307-13772308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185587763	chr9:13772314-13772315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189061598	chr9:13772320-13772321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs4741331	chr9:13772372-13772373	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs200383923	chr9:13772382-13772383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs138110053	chr9:13772399-13772400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs568252205	chr9:13772406-13772407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
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
abnormal development	18461090	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
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
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
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
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21611746	CNVD
Schizophrenia	23813976	CNVD
Chordoma	21215367	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:13758200-13787200	Weak transcription	Aorta	Aorta

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