Variant report

Variant	esv2542387
Chromosome Location	chr5:99173338-99175007
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534101517	chr5:99173429-99173430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs528345844	chr5:99173436-99173437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs546923788	chr5:99173450-99173451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs77555420	chr5:99173457-99173458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs116030196	chr5:99173567-99173568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs200831017	chr5:99173569-99173570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs376035667	chr5:99173570-99173571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs199797956	chr5:99173588-99173589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs533412655	chr5:99173606-99173607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs141723715	chr5:99173607-99173608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs77445414	chr5:99173620-99173621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs35929329	chr5:99173628-99173629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs570168821	chr5:99173633-99173634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs369369785	chr5:99173640-99173641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs537164318	chr5:99173682-99173683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs549138443	chr5:99173709-99173710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs567524522	chr5:99173732-99173733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs534947308	chr5:99173753-99173754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs553297099	chr5:99173763-99173764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs574987157	chr5:99173764-99173765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs577543932	chr5:99173766-99173767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs200280204	chr5:99173768-99173769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs149273660	chr5:99173769-99173770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs376394004	chr5:99173770-99173771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs111262036	chr5:99173771-99173772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs545311084	chr5:99173774-99173775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs199974807	chr5:99173783-99173784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs534633794	chr5:99173786-99173787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs201167098	chr5:99173787-99173788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs2123806	chr5:99173792-99173793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs386690451	chr5:99173800-99173801	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
Merkel cell carcinoma	19020549	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
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	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
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Acute lymphoblastic leukemia	21248843	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:99173400-99173800	Enhancers	Fetal Brain Male	brain

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