Variant report

Variant	esv2553148
Chromosome Location	chr9:22596878-22598201
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 150 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556713968	chr9:22596886-22596887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs368442832	chr9:22596913-22596914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576636003	chr9:22596923-22596924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs538759447	chr9:22596925-22596926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs545501241	chr9:22596935-22596936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs547511002	chr9:22596938-22596939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs5017640	chr9:22596977-22596978	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs540526655	chr9:22597017-22597018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs187222364	chr9:22597079-22597080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529070288	chr9:22597120-22597121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs567308185	chr9:22597212-22597213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs536212429	chr9:22597252-22597253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs192109887	chr9:22597313-22597314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs113786027	chr9:22597318-22597319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs551183855	chr9:22597330-22597331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs554307085	chr9:22597333-22597334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs10115145	chr9:22597351-22597352	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs556162755	chr9:22597384-22597385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs200701849	chr9:22597433-22597434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs527251243	chr9:22597435-22597436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs71888842	chr9:22597437-22597438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548085660	chr9:22597470-22597471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536878706	chr9:22597474-22597475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567928607	chr9:22597498-22597499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs10115194	chr9:22597508-22597509	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs112232620	chr9:22597577-22597578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536921897	chr9:22597663-22597664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375362361	chr9:22597669-22597670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556828500	chr9:22597684-22597685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570255861	chr9:22597699-22597700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577154913	chr9:22597729-22597730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539171968	chr9:22597734-22597735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs575451108	chr9:22597755-22597756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs57168082	chr9:22597800-22597801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs10124247	chr9:22597823-22597824	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs10124298	chr9:22597831-22597832	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs553673375	chr9:22597870-22597871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs191625726	chr9:22597959-22597960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs138894406	chr9:22598139-22598140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs543374742	chr9:22598140-22598141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs75811710	chr9:22598158-22598159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs79413356	chr9:22598159-22598160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs575784534	chr9:22598191-22598192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:150)

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
Breast cancer	21858162	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
Glioblastoma multiforme	21569311	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
Glioma	20126413	CNVD
Melanoma	17363583	CNVD
Glioblastoma multiforme	19115005	CNVD
Glioblastoma multiforme	21138945	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Cancer	20581869	CNVD
Oral cancer	22144094	CNVD
Barrett''s syndrome	19417022	CNVD
Breast cancer	17142309	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	21364760	CNVD
Acute myeloid leukemia	17237825	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:22593400-22599000	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr9:22595800-22597000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr9:22596000-22618000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr9:22596200-22597400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr9:22596400-22601200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr9:22597400-22597800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr9:22597800-22600000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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