Variant report

Variant	esv3430770
Chromosome Location	chr5:105311353-105314451
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188260402	chr5:105313007-105313008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs559128456	chr5:105313075-105313076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs73778786	chr5:105313088-105313089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs367843339	chr5:105313100-105313101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs538295687	chr5:105313178-105313179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs555013862	chr5:105313188-105313189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs34764999	chr5:105313218-105313219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs574767873	chr5:105313223-105313224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs4444943	chr5:105313279-105313280	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs570835000	chr5:105313284-105313285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs572990090	chr5:105313321-105313322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs550566132	chr5:105313378-105313379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs544822875	chr5:105313405-105313406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs564707085	chr5:105313439-105313440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs530520906	chr5:105313585-105313586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs564639151	chr5:105313590-105313591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs543862138	chr5:105313615-105313616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs560761456	chr5:105313620-105313621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs529688234	chr5:105313652-105313653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs567398078	chr5:105313654-105313655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs534740014	chr5:105313655-105313656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs148069028	chr5:105313699-105313700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs567137487	chr5:105313752-105313753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs142535703	chr5:105313757-105313758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs552807494	chr5:105313794-105313795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs569435113	chr5:105313795-105313796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs538383561	chr5:105313824-105313825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs114381666	chr5:105313838-105313839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs568392442	chr5:105313848-105313849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs145991072	chr5:105313863-105313864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs553848956	chr5:105313878-105313879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs372801323	chr5:105313902-105313903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs139926731	chr5:105313914-105313915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs544853811	chr5:105313918-105313919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs192791201	chr5:105313928-105313929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs547114962	chr5:105313937-105313938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs547060225	chr5:105313973-105313974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs575085280	chr5:105313984-105313985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs543948236	chr5:105314006-105314007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs561016409	chr5:105314007-105314008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs207466303	chr5:105314010-105314011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs529691075	chr5:105314041-105314042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs560920683	chr5:105314044-105314045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs540238443	chr5:105314051-105314052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs185223130	chr5:105314066-105314067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs529799318	chr5:105314122-105314123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs552895536	chr5:105314149-105314150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs569520215	chr5:105314166-105314167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs531917363	chr5:105314167-105314168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs548425237	chr5:105314172-105314173	Enhancers	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
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
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
Myelofibrosis	22110671	CNVD
Lung cancer	16773561	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17142309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:105313000-105314600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr5:105314200-105314600	Enhancers	Placenta Amnion	Placenta Amnion

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