Variant report

Variant	esv2550190
Chromosome Location	chr5:120722791-120724261
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558188992	chr5:120722825-120722826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs550163078	chr5:120722845-120722846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181914431	chr5:120722858-120722859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565216658	chr5:120722871-120722872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532280761	chr5:120722893-120722894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs112177572	chr5:120722901-120722902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562446668	chr5:120722934-120722935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574138493	chr5:120722945-120722946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541257518	chr5:120722984-120722985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201944931	chr5:120722987-120722988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549026598	chr5:120723009-120723010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs186984091	chr5:120723027-120723028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559790773	chr5:120723034-120723035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs143542933	chr5:120723081-120723082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565724945	chr5:120723142-120723143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563929938	chr5:120723172-120723173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs151013385	chr5:120723178-120723179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs114684690	chr5:120723308-120723309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568371865	chr5:120723311-120723312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs59768572	chr5:120723335-120723336	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs141144467	chr5:120723344-120723345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373742866	chr5:120723351-120723352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547626283	chr5:120723392-120723393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539676878	chr5:120723395-120723396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373416430	chr5:120723402-120723403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs386691798	chr5:120723445-120723446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112683950	chr5:120723452-120723453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs13153658	chr5:120723454-120723455	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs160118	chr5:120723456-120723457	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs537489948	chr5:120723560-120723561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558247110	chr5:120723563-120723564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555766129	chr5:120723570-120723571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573451553	chr5:120723573-120723574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373976991	chr5:120723624-120723625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs145769296	chr5:120723625-120723626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs74664553	chr5:120723646-120723647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571762127	chr5:120723683-120723684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs138610517	chr5:120723731-120723732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs142693430	chr5:120723740-120723741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs17147694	chr5:120723763-120723764	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs572680587	chr5:120723806-120723807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111533959	chr5:120723857-120723858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543214481	chr5:120723858-120723859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529210607	chr5:120723874-120723875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547565567	chr5:120723951-120723952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs75838365	chr5:120723961-120723962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs565876636	chr5:120723994-120723995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs533200491	chr5:120724056-120724057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547284592	chr5:120724078-120724079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113666971	chr5:120724093-120724094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:120722400-120727000	Weak transcription	Dnd41	blood
2	chr5:120724200-120724600	Enhancers	HUVEC	blood vessel

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