Variant report

Variant	esv2763915
Chromosome Location	chr5:113153639-113170445
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 111 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:111 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150319207	chr5:113153805-113153806	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs569883042	chr5:113153840-113153841	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs138049117	chr5:113153842-113153843	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs558895757	chr5:113153865-113153866	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs74483648	chr5:113153877-113153878	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs534365226	chr5:113153895-113153896	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs10477506	chr5:113153897-113153898	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs539436279	chr5:113153958-113153959	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs10040120	chr5:113153982-113153983	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs541537945	chr5:113153998-113153999	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs542837904	chr5:113158601-113158602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs372941475	chr5:113158616-113158617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs561165789	chr5:113158661-113158662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186813630	chr5:113158669-113158670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs73254338	chr5:113158706-113158707	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs565086093	chr5:113158715-113158716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs532584233	chr5:113158732-113158733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs192869069	chr5:113158747-113158748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs138861344	chr5:113158783-113158784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs1482359	chr5:113158818-113158819	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs4388202	chr5:113158824-113158825	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs183135865	chr5:113158837-113158838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs201798598	chr5:113158838-113158839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs530677130	chr5:113158894-113158895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs552450715	chr5:113158898-113158899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs188552776	chr5:113158909-113158910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs73254339	chr5:113158917-113158918	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs552636994	chr5:113158929-113158930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs60568614	chr5:113158969-113158970	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs58892051	chr5:113158996-113158997	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs547819236	chr5:113159009-113159010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs192909510	chr5:113159017-113159018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs184760648	chr5:113159103-113159104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs112771854	chr5:113159117-113159118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs141312324	chr5:113159138-113159139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs35947973	chr5:113159141-113159142	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs189432835	chr5:113159142-113159143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs34457285	chr5:113159156-113159157	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs6594763	chr5:113159168-113159169	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs530184738	chr5:113159175-113159176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs147022973	chr5:113159183-113159184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs563293804	chr5:113159209-113159210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs530783112	chr5:113159217-113159218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs552181439	chr5:113159258-113159259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs570761685	chr5:113159262-113159263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs528389590	chr5:113159286-113159287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs6882254	chr5:113159293-113159294	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs567725035	chr5:113159337-113159338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs148058600	chr5:113159354-113159355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs558606991	chr5:113159369-113159370	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	16272173	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
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Colorectal cancer	21297112	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Sezary syndrome	18413736	CNVD
Autism	22495309	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:113153800-113154000	ZNF genes & repeats	Pancreas	Pancrea
2	chr5:113158600-113159800	Enhancers	Fetal Lung	lung
3	chr5:113158800-113160400	Enhancers	Fetal Stomach	stomach
4	chr5:113168600-113169000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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