Variant report

Variant	esv3418440
Chromosome Location	chr5:103622603-103627001
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:103619639..103621468-chr5:103623035..103624984,2	K562	blood:
2	chr5:103614287..103617162-chr5:103624383..103626582,2	K562	blood:

Extended variants
information (count: 84 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567204314	chr5:103624202-103624203	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs539327386	chr5:103624232-103624233	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs559239285	chr5:103624277-103624278	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs575858525	chr5:103624281-103624282	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs543554344	chr5:103624287-103624288	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs556986020	chr5:103624307-103624308	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs146385743	chr5:103624327-103624328	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs188816366	chr5:103624337-103624338	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs559070988	chr5:103624354-103624355	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs12109034	chr5:103624362-103624363	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs2583911	chr5:103624405-103624406	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs564741249	chr5:103624408-103624409	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs144931259	chr5:103624436-103624437	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs530584590	chr5:103624441-103624442	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs550817872	chr5:103624500-103624501	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs181242576	chr5:103624549-103624550	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs2583912	chr5:103624567-103624568	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs529944114	chr5:103625408-103625409	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs201852406	chr5:103625411-103625412	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs370581090	chr5:103625412-103625413	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs536073284	chr5:103625437-103625438	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs575534248	chr5:103625494-103625495	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs116742236	chr5:103625579-103625580	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs186157258	chr5:103625619-103625620	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs561137828	chr5:103625642-103625643	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs35889528	chr5:103625654-103625655	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs574504329	chr5:103625682-103625683	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs145778470	chr5:103625689-103625690	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs190576995	chr5:103625705-103625706	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs182781898	chr5:103625707-103625708	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs548044059	chr5:103625726-103625727	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs532632656	chr5:103625752-103625753	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs187172124	chr5:103625767-103625768	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs561479751	chr5:103625807-103625808	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs555958720	chr5:103625830-103625831	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs141520587	chr5:103625842-103625843	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs2591442	chr5:103625859-103625860	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs532078825	chr5:103625972-103625973	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs548553884	chr5:103625974-103625975	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs568649274	chr5:103626006-103626007	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs10059552	chr5:103626075-103626076	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs112646054	chr5:103626079-103626080	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs566263942	chr5:103626080-103626081	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs190948444	chr5:103626114-103626115	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs147041460	chr5:103626134-103626135	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs182897019	chr5:103626152-103626153	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs147840566	chr5:103626166-103626167	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs7736455	chr5:103626197-103626198	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs572390550	chr5:103626199-103626200	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs142543630	chr5:103626216-103626217	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
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
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
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	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
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:103624200-103624600	Active TSS	A549	lung
2	chr5:103625400-103626600	Active TSS	K562	blood

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