Variant report

Variant	esv275376
Chromosome Location	chr9:24801540-24830700
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 106 )
Associated
traits (count: 142 )

Variant overlapped rSNPs/rCNVs (count:106 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533216141	chr9:24803513-24803514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs114077441	chr9:24803521-24803522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs143145420	chr9:24803628-24803629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs148316746	chr9:24803629-24803630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs549234227	chr9:24803647-24803648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192841094	chr9:24803667-24803668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs531457696	chr9:24803673-24803674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs13440224	chr9:24803746-24803747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs545498941	chr9:24816045-24816046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs565416182	chr9:24816095-24816096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs527654140	chr9:24816113-24816114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs547832183	chr9:24816125-24816126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs564719989	chr9:24816182-24816183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs143420600	chr9:24816199-24816200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs1156943	chr9:24816200-24816201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs550087008	chr9:24816201-24816202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs569745737	chr9:24816209-24816210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs528983837	chr9:24816235-24816236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs185064633	chr9:24816260-24816261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs558213991	chr9:24816276-24816277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs137887610	chr9:24816289-24816290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs568622836	chr9:24816291-24816292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs17699890	chr9:24816304-24816305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs554279520	chr9:24816390-24816391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs574415600	chr9:24816400-24816401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs114946208	chr9:24816444-24816445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs556846319	chr9:24816517-24816518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs538863955	chr9:24816519-24816520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs576698484	chr9:24816539-24816540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs189916174	chr9:24816542-24816543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs565348679	chr9:24816544-24816545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs181193965	chr9:24816549-24816550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs541374207	chr9:24816556-24816557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs561114310	chr9:24816570-24816571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs569267344	chr9:24816682-24816683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs530154714	chr9:24816739-24816740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs549784685	chr9:24816782-24816783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs569967444	chr9:24816797-24816798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs185475422	chr9:24826803-24826804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs142529876	chr9:24826809-24826810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs532225525	chr9:24826813-24826814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs547371356	chr9:24826824-24826825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs9406821	chr9:24826833-24826834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs531739387	chr9:24826837-24826838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs528091190	chr9:24826838-24826839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs548080819	chr9:24826858-24826859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs77046706	chr9:24826886-24826887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs567961085	chr9:24826887-24826888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs574758717	chr9:24826888-24826889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs151001716	chr9:24826914-24826915	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:142)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	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
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
Myelofibrosis	22110671	CNVD
Ewing''s sarcoma	22429812	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	19435819	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	22291905	CNVD
Lung cancer	21911935	CNVD
Primary central nervous system lymphoma	21088137	CNVD
head and neck squamous cell carcinoma	21798897	CNVD
Cancer	21253487	CNVD
Glioblastoma multiforme	22286061	CNVD
Intracranial ependymoma	16609018	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Urothelial cell carcinoma	18451213	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Leukemia	19602459	CNVD
Acute monocytic leukemia	16498392	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Leukemia	18688285	CNVD
T-cell acute lymphoblastic leukemia	18185524	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
Hodgkin''s lymphoma	18179710	CNVD
Melanoma	17363583	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
Breast cancer	21364760	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Lung cancer	21569311	CNVD
Chordoma	21215367	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:24803400-24803800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr9:24816000-24816400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr9:24816400-24816800	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr9:24826800-24828200	Enhancers	Fetal Brain Male	brain

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