Variant report

Variant	esv1800292
Chromosome Location	chr5:114256573-114279914
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 352 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:352 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544342130	chr5:114260602-114260603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs4346763	chr5:114260619-114260620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs578000925	chr5:114260632-114260633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs545409102	chr5:114260634-114260635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs185840230	chr5:114260635-114260636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs151275488	chr5:114260637-114260638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs541515335	chr5:114260650-114260651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561103236	chr5:114260658-114260659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs554658920	chr5:114260668-114260669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs531542654	chr5:114260683-114260684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs549661650	chr5:114260685-114260686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs139238652	chr5:114260753-114260754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs538319213	chr5:114260754-114260755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs149987638	chr5:114260758-114260759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs189153301	chr5:114260763-114260764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs534268834	chr5:114260794-114260795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs530050510	chr5:114260833-114260834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs146554892	chr5:114260860-114260861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs538054043	chr5:114260867-114260868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs141423187	chr5:114260887-114260888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs578062582	chr5:114260905-114260906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs115370018	chr5:114260939-114260940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs73782620	chr5:114260943-114260944	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs77319170	chr5:114261089-114261090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372792860	chr5:114261098-114261099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561167099	chr5:114261153-114261154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531607527	chr5:114261154-114261155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570041076	chr5:114261174-114261175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs180999780	chr5:114261187-114261188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577197248	chr5:114261251-114261252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555559277	chr5:114261269-114261270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs116240534	chr5:114261274-114261275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs145183515	chr5:114261326-114261327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs185634065	chr5:114261328-114261329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs190107738	chr5:114261387-114261388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181348242	chr5:114261420-114261421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs57443788	chr5:114261427-114261428	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs185904528	chr5:114261461-114261462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538117472	chr5:114261479-114261480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556754292	chr5:114261485-114261486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376319393	chr5:114261497-114261498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111994727	chr5:114261501-114261502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs539161614	chr5:114261503-114261504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs191910271	chr5:114261518-114261519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs61097458	chr5:114261529-114261530	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs76421573	chr5:114261560-114261561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs543064086	chr5:114261573-114261574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs554967480	chr5:114261587-114261588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs78584532	chr5:114261588-114261589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183832870	chr5:114261616-114261617	Weak transcription	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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114260600-114260800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:114260600-114261000	Enhancers	Fetal Brain Male	brain
3	chr5:114260800-114264400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr5:114264400-114264800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr5:114265200-114266800	Enhancers	Primary hematopoietic stem cells short term culture	blood

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