Variant report

Variant	esv3468504
Chromosome Location	chr5:97401500-97402782
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377247915	chr5:97401563-97401564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs200650111	chr5:97401564-97401565	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534767763	chr5:97401713-97401714	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575076080	chr5:97401775-97401776	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568024609	chr5:97401811-97401812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs34681598	chr5:97401834-97401835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs58683537	chr5:97401956-97401957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs192363249	chr5:97401982-97401983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs35474494	chr5:97402048-97402049	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs115282201	chr5:97402051-97402052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552175587	chr5:97402058-97402059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564206492	chr5:97402102-97402103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs199783818	chr5:97402135-97402136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs115144015	chr5:97402136-97402137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141054364	chr5:97402139-97402140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs150232484	chr5:97402154-97402155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs144951331	chr5:97402166-97402167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566450716	chr5:97402224-97402225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533738185	chr5:97402257-97402258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370977272	chr5:97402346-97402347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558597750	chr5:97402365-97402366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570482815	chr5:97402373-97402374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs114065568	chr5:97402378-97402379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558839256	chr5:97402397-97402398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183791642	chr5:97402413-97402414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574969835	chr5:97402419-97402420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs144620531	chr5:97402523-97402524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554016556	chr5:97402541-97402542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs76293271	chr5:97402570-97402571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545751890	chr5:97402589-97402590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs114618735	chr5:97402590-97402591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs138521989	chr5:97402653-97402654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs117572135	chr5:97402659-97402660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs562686473	chr5:97402712-97402713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs34178646	chr5:97402755-97402756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs7443052	chr5:97402760-97402761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs188065739	chr5:97402770-97402771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21611746	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:97398600-97401800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:97400200-97401600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr5:97400800-97404000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:97401200-97401600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:97401200-97401600	Enhancers	Osteobl	bone
6	chr5:97401400-97402800	Weak transcription	NHDF-Ad	bronchial
7	chr5:97401600-97402600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:97402600-97403000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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