Variant report

Variant	esv11187
Chromosome Location	chr5:117880229-117881004
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs56698697	chr5:117880421-117880422	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs543270622	chr5:117880427-117880428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs57449241	chr5:117880452-117880453	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs72795552	chr5:117880454-117880455	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs545207804	chr5:117880464-117880465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs79794146	chr5:117880469-117880470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs66500274	chr5:117880480-117880481	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs72795554	chr5:117880490-117880491	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs188125968	chr5:117880508-117880509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs72795555	chr5:117880514-117880515	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs147261898	chr5:117880561-117880562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs550023479	chr5:117880568-117880569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs532798970	chr5:117880587-117880588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs62370364	chr5:117880628-117880629	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs10050514	chr5:117880635-117880636	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs10058452	chr5:117880670-117880671	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs73788938	chr5:117880690-117880691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs144593772	chr5:117880691-117880692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs147965630	chr5:117880695-117880696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs542657033	chr5:117880707-117880708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs113440158	chr5:117880756-117880757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs373785410	chr5:117880757-117880758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs70982432	chr5:117880764-117880765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs148203928	chr5:117880765-117880766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs73788940	chr5:117880791-117880792	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs73788941	chr5:117880799-117880800	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs545341441	chr5:117880808-117880809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs565115791	chr5:117880811-117880812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs371216646	chr5:117880826-117880827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs530641824	chr5:117880845-117880846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs527915102	chr5:117880855-117880856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs541088810	chr5:117880867-117880868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs10050645	chr5:117880873-117880874	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs529647275	chr5:117880875-117880876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs549500232	chr5:117880878-117880879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs72795558	chr5:117880897-117880898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs570665006	chr5:117880903-117880904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs10058652	chr5:117880970-117880971	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs565844672	chr5:117880988-117880989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs112860225	chr5:117880991-117880992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs368330493	chr5:117880992-117880993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
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
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
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	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
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Breast cancer	21509527	CNVD
Autism	22543975	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:117880400-117880800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr5:117880400-117881000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr5:117880800-117884200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr5:117881000-117884200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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