Variant report

Variant	esv3391873
Chromosome Location	chr9:26081252-26083350
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 120 )
Associated
traits (count: 117 )

Variant overlapped rSNPs/rCNVs (count:120 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551782366	chr9:26081283-26081284	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs563721805	chr9:26081311-26081312	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs531344200	chr9:26081334-26081335	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs549604532	chr9:26081366-26081367	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs144850618	chr9:26081367-26081368	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs567559742	chr9:26081407-26081408	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs10812344	chr9:26081410-26081411	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs189748673	chr9:26081437-26081438	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs117731205	chr9:26081438-26081439	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs539730055	chr9:26081505-26081506	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs558225401	chr9:26081507-26081508	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs539091588	chr9:26081545-26081546	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs570063641	chr9:26081561-26081562	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs368029978	chr9:26081564-26081565	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs557100493	chr9:26081569-26081570	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs73474760	chr9:26081590-26081591	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs555588836	chr9:26081609-26081610	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs574044180	chr9:26081630-26081631	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs73642453	chr9:26081636-26081637	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs10967187	chr9:26081644-26081645	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs192767046	chr9:26081707-26081708	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs545285510	chr9:26081729-26081730	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs150749484	chr9:26081777-26081778	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs71997814	chr9:26081778-26081779	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs534488652	chr9:26081797-26081798	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs532171098	chr9:26081804-26081805	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs111364233	chr9:26081805-26081806	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs148556564	chr9:26081842-26081843	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs144771704	chr9:26081876-26081877	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs574128337	chr9:26081895-26081896	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs534273245	chr9:26081896-26081897	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs530956731	chr9:26081914-26081915	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs544711612	chr9:26081948-26081949	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs10967189	chr9:26081949-26081950	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs528963494	chr9:26081953-26081954	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs562804249	chr9:26081986-26081987	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs201258474	chr9:26081989-26081990	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs142939077	chr9:26081993-26081994	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs147797878	chr9:26081995-26081996	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs185245211	chr9:26081998-26081999	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs141273474	chr9:26081999-26082000	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs145142025	chr9:26082000-26082001	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537066329	chr9:26082014-26082015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577976785	chr9:26082015-26082016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555704306	chr9:26082030-26082031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs567681078	chr9:26082036-26082037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147550062	chr9:26082051-26082052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553188729	chr9:26082073-26082074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs116860004	chr9:26082092-26082093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545148424	chr9:26082095-26082096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:117)

Disease	PMID	Source
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Medulloblastoma	21979893	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
Oral squamous cell carcinoma	17134496	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
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	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
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Cancer	22183965	CNVD
Acute myeloid leukemia	19651601	CNVD
Coronary Disease	20032323	CNVD
Squamous cell cancer	20885788	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21732550	CNVD
Gastric cancer	22539939	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Metastatic melanoma	18483359	CNVD
Non-small cell lung cancer	20864512	CNVD
Cervical cancer	21062161	CNVD
Acute myeloid leukemia	16864856	CNVD
Glioblastoma	17090523	CNVD
Lung cancer	16773561	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16774939	CNVD
Bladder cancer	19088036	CNVD
Colorectal cancer	16272173	CNVD
Melanoma	16977458	CNVD
Glioblastoma multiforme	17369134	CNVD
Chagasic megaesophagus	20163722	CNVD
Melanoma	19566914	CNVD
Squamous cell cancer	19047905	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Adenoid cystic carcinoma	18332873	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21858162	CNVD
Pancreatic cancer	21811587	CNVD
Barrett''s syndrome	19417022	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
polycythaemia	22829968	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:26081200-26082000	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr9:26082000-26083600	Weak transcription	Pancreatic Islets	Pancreatic Islet

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