Variant report

Variant	esv3352673
Chromosome Location	chr5:119582753-119586551
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 72 )

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	rs545009417	chr5:119583405-119583406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs565086954	chr5:119583434-119583435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs541858903	chr5:119583437-119583438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562080756	chr5:119583453-119583454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs144771979	chr5:119583472-119583473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs547200121	chr5:119583487-119583488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs566990073	chr5:119583488-119583489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs529763162	chr5:119583489-119583490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs11952010	chr5:119583490-119583491	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs569587133	chr5:119583492-119583493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs538525253	chr5:119583497-119583498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs200666959	chr5:119583508-119583509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs558210346	chr5:119583528-119583529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs200800404	chr5:119583529-119583530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs534347604	chr5:119583575-119583576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs17146309	chr5:119583576-119583577	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs79899988	chr5:119583596-119583597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs181260304	chr5:119583644-119583645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185460694	chr5:119583708-119583709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576406780	chr5:119583720-119583721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546751353	chr5:119583742-119583743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372850344	chr5:119583824-119583825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189686078	chr5:119583916-119583917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564992967	chr5:119583973-119583974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs527598603	chr5:119583985-119583986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540801438	chr5:119583987-119583988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560778994	chr5:119584021-119584022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111595448	chr5:119584043-119584044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549509683	chr5:119584052-119584053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370632124	chr5:119584124-119584125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563289925	chr5:119584155-119584156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs537957299	chr5:119584167-119584168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552157972	chr5:119584204-119584205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs184060228	chr5:119584225-119584226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs534518068	chr5:119584239-119584240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs576044866	chr5:119584251-119584252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs556091102	chr5:119584259-119584260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs142965193	chr5:119584282-119584283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs567892261	chr5:119584290-119584291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs536734818	chr5:119584304-119584305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs556335875	chr5:119584370-119584371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs576491249	chr5:119584399-119584400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs73252899	chr5:119584400-119584401	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:72)

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
Renal cell carcinoma	18194544	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119583400-119583600	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr5:119583600-119584200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr5:119584200-119584400	Enhancers	Primary hematopoietic stem cells short term culture	blood

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