Variant report

Variant	esv2547786
Chromosome Location	chr9:13655005-13656498
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542203915	chr9:13655024-13655025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs202119982	chr9:13655057-13655058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs8192963	chr9:13655058-13655059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs12003464	chr9:13655087-13655088	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs547614692	chr9:13655130-13655131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188848358	chr9:13655133-13655134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533006183	chr9:13655138-13655139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571611041	chr9:13655183-13655184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs11999635	chr9:13655221-13655222	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs564056226	chr9:13655242-13655243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192230504	chr9:13655285-13655286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs11999667	chr9:13655295-13655296	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs543541872	chr9:13655299-13655300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554899282	chr9:13655312-13655313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565589320	chr9:13655319-13655320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534708318	chr9:13655334-13655335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563079104	chr9:13655368-13655369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557604453	chr9:13655411-13655412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs115346306	chr9:13655415-13655416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368101927	chr9:13655420-13655421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546392610	chr9:13655442-13655443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556812008	chr9:13655455-13655456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576763877	chr9:13655457-13655458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542590218	chr9:13655476-13655477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200043711	chr9:13655540-13655541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183951602	chr9:13655571-13655572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111926197	chr9:13655612-13655613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564395149	chr9:13655619-13655620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200855313	chr9:13655658-13655659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201787526	chr9:13655692-13655693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs112904950	chr9:13655715-13655716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs605994	chr9:13655747-13655748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533480258	chr9:13655751-13655752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565017731	chr9:13655763-13655764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs10961186	chr9:13655809-13655810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549528123	chr9:13655824-13655825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188727010	chr9:13655830-13655831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529149730	chr9:13655836-13655837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548907658	chr9:13655838-13655839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs527262678	chr9:13655848-13655849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs13293078	chr9:13655856-13655857	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs534350351	chr9:13655871-13655872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs147216854	chr9:13655874-13655875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12342582	chr9:13655913-13655914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs180687512	chr9:13655921-13655922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570508761	chr9:13655973-13655974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185993020	chr9:13656008-13656009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536139428	chr9:13656068-13656069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113394311	chr9:13656084-13656085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs142685376	chr9:13656135-13656136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:13651600-13660800	Weak transcription	Right Atrium	heart

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