Variant report

Variant	esv3335438
Chromosome Location	chr5:116488253-116491451
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 140 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:140 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183947694	chr5:116488273-116488274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs186828670	chr5:116488279-116488280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549819835	chr5:116488306-116488307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs114878431	chr5:116488310-116488311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532207776	chr5:116488341-116488342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551812834	chr5:116488354-116488355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561227001	chr5:116488404-116488405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs148886599	chr5:116488406-116488407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534461481	chr5:116488418-116488419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs34744893	chr5:116488465-116488466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554124584	chr5:116488469-116488470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567998651	chr5:116488486-116488487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537717048	chr5:116488497-116488498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557390826	chr5:116488517-116488518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577321604	chr5:116488523-116488524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs143541167	chr5:116488576-116488577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553649999	chr5:116488599-116488600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573351661	chr5:116488620-116488621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191312965	chr5:116488625-116488626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562078248	chr5:116488630-116488631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs530830417	chr5:116488642-116488643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369834103	chr5:116488644-116488645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184229008	chr5:116488716-116488717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs563441929	chr5:116488736-116488737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369012411	chr5:116488778-116488779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs3073965	chr5:116488781-116488782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201077327	chr5:116488812-116488813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs368659456	chr5:116488815-116488816	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563967887	chr5:116488818-116488819	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs71861595	chr5:116488819-116488820	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372146424	chr5:116488825-116488826	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs71621339	chr5:116488829-116488830	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532479568	chr5:116488856-116488857	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551953422	chr5:116488915-116488916	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565568267	chr5:116488920-116488921	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528159944	chr5:116488922-116488923	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540946545	chr5:116488969-116488970	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148337246	chr5:116488985-116488986	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs73260900	chr5:116489017-116489018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs557592908	chr5:116489020-116489021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571053618	chr5:116489034-116489035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189508494	chr5:116489094-116489095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534282036	chr5:116489100-116489101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552552619	chr5:116489120-116489121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs573490883	chr5:116489157-116489158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182088394	chr5:116489170-116489171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185145355	chr5:116489180-116489181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575550661	chr5:116489189-116489190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs372557828	chr5:116489199-116489200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372515533	chr5:116489201-116489202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:116477000-116488800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:116485600-116497600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr5:116488800-116489000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:116489000-116494200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr5:116490600-116490800	Enhancers	Psoas Muscle	Psoas

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