Variant report

Variant	esv3471087
Chromosome Location	chr5:114323853-114331551
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 127 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:127 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563253178	chr5:114323855-114323856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs527922171	chr5:114323864-114323865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs189830111	chr5:114323876-114323877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs148267752	chr5:114323889-114323890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs567643226	chr5:114323959-114323960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs535046249	chr5:114323968-114323969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs141387595	chr5:114323976-114323977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs7701456	chr5:114323981-114323982	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs534633171	chr5:114323989-114323990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs73782641	chr5:114324008-114324009	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs147393640	chr5:114324011-114324012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs79561390	chr5:114324030-114324031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs370122641	chr5:114324043-114324044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs534005237	chr5:114324048-114324049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs374403875	chr5:114324058-114324059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs182516823	chr5:114324075-114324076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs187166702	chr5:114324080-114324081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs542998637	chr5:114324082-114324083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs190138742	chr5:114324120-114324121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs368434137	chr5:114324158-114324159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs576425894	chr5:114324173-114324174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs545157933	chr5:114324253-114324254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs565409219	chr5:114324345-114324346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs183473863	chr5:114324391-114324392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs112030193	chr5:114324419-114324420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs561202678	chr5:114324439-114324440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs530329048	chr5:114324451-114324452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs550104988	chr5:114324456-114324457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs568750907	chr5:114324470-114324471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs144689829	chr5:114324490-114324491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs147486770	chr5:114324513-114324514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs372951269	chr5:114324524-114324525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs115091362	chr5:114324529-114324530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs555157193	chr5:114324565-114324566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs139324418	chr5:114324572-114324573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs377053089	chr5:114324583-114324584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs1453026	chr5:114324590-114324591	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs536541480	chr5:114324601-114324602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs372019907	chr5:114324644-114324645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs188458052	chr5:114324682-114324683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs536325892	chr5:114324697-114324698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs545409395	chr5:114324708-114324709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs193218592	chr5:114324716-114324717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs558750024	chr5:114324720-114324721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs185681984	chr5:114324721-114324722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs2123470	chr5:114324733-114324734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs554689176	chr5:114324769-114324770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs114768624	chr5:114324785-114324786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs566457853	chr5:114324791-114324792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs537553795	chr5:114325224-114325225	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114323600-114324800	Enhancers	Brain Hippocampus Middle	brain
2	chr5:114324200-114324600	Enhancers	Brain Cingulate Gyrus	brain
3	chr5:114325200-114325600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr5:114327800-114328600	Enhancers	H9 Cell Line	embryonic stem cell
5	chr5:114328400-114328800	Enhancers	iPS-20b Cell Line	embryonic stem cell

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