Variant report

Variant	esv3419279
Chromosome Location	chr5:114263753-114266151
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 149 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:149 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185461183	chr5:114263762-114263763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs557633941	chr5:114263799-114263800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs145369031	chr5:114263809-114263810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535117902	chr5:114263833-114263834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs564321552	chr5:114263839-114263840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573037747	chr5:114263890-114263891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs369924206	chr5:114263949-114263950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540322464	chr5:114263969-114263970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190761389	chr5:114264042-114264043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs149059233	chr5:114264045-114264046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573889489	chr5:114264065-114264066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550659863	chr5:114264085-114264086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs193111920	chr5:114264091-114264092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533050392	chr5:114264132-114264133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs78260769	chr5:114264135-114264136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs11241296	chr5:114264168-114264169	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs566654464	chr5:114264169-114264170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533913657	chr5:114264227-114264228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541394573	chr5:114264258-114264259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183682058	chr5:114264261-114264262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558321816	chr5:114264265-114264266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs145904422	chr5:114264282-114264283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs188296633	chr5:114264288-114264289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs896731	chr5:114264296-114264297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369201478	chr5:114264340-114264341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575924045	chr5:114264346-114264347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113295925	chr5:114264350-114264351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181111847	chr5:114264351-114264352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557972434	chr5:114264353-114264354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573099376	chr5:114264393-114264394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540382242	chr5:114264403-114264404	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs561856667	chr5:114264406-114264407	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs574016789	chr5:114264407-114264408	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs368387322	chr5:114264421-114264422	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs546166850	chr5:114264471-114264472	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs562717704	chr5:114264480-114264481	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs533291574	chr5:114264503-114264504	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs564830920	chr5:114264508-114264509	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs185854391	chr5:114264527-114264528	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs36103574	chr5:114264562-114264563	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs78389427	chr5:114264563-114264564	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs537524501	chr5:114264564-114264565	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs115048853	chr5:114264568-114264569	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs72809640	chr5:114264569-114264570	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs4513688	chr5:114264584-114264585	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs528947237	chr5:114264600-114264601	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs558033907	chr5:114264601-114264602	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs112295754	chr5:114264608-114264609	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs4079033	chr5:114264609-114264610	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs534139673	chr5:114264620-114264621	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16774939	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
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Sezary syndrome	18413736	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114260800-114264400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:114264400-114264800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:114265200-114266800	Enhancers	Primary hematopoietic stem cells short term culture	blood

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