Variant report

Variant	esv1838423
Chromosome Location	chr5:35712580-35713777
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13186771	chr5:35712580-35712581	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs187862164	chr5:35712598-35712599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs12697348	chr5:35712599-35712600	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs112961195	chr5:35712690-35712691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs535360724	chr5:35712744-35712745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs201080907	chr5:35712776-35712777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs10078803	chr5:35712780-35712781	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs142929009	chr5:35712792-35712793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs111691682	chr5:35712824-35712825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10064115	chr5:35712834-35712835	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs558995635	chr5:35712868-35712869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs376518522	chr5:35712893-35712894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs115898419	chr5:35712901-35712902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs60857559	chr5:35712909-35712910	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs377415900	chr5:35712921-35712922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200030291	chr5:35712929-35712930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529462502	chr5:35712933-35712934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370686698	chr5:35712949-35712950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374613333	chr5:35712969-35712970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs202247689	chr5:35712972-35712973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs371380166	chr5:35712975-35712976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs193168552	chr5:35712978-35712979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs10073537	chr5:35713007-35713008	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs530564412	chr5:35713045-35713046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561242431	chr5:35713060-35713061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550607067	chr5:35713067-35713068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564027332	chr5:35713085-35713086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs13153876	chr5:35713136-35713137	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs373947478	chr5:35713157-35713158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540384938	chr5:35713168-35713169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs13153894	chr5:35713173-35713174	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs370796604	chr5:35713193-35713194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554921519	chr5:35713239-35713240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs386687174	chr5:35713265-35713266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370399418	chr5:35713274-35713275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs13153801	chr5:35713277-35713278	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs13153802	chr5:35713281-35713282	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs576969997	chr5:35713293-35713294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537300453	chr5:35713317-35713318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551515621	chr5:35713318-35713319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs386687175	chr5:35713322-35713323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571251008	chr5:35713323-35713324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs13154215	chr5:35713324-35713325	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs13153955	chr5:35713348-35713349	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs529303740	chr5:35713352-35713353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs141310345	chr5:35713384-35713385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs66496382	chr5:35713409-35713410	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs74955177	chr5:35713410-35713411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184460625	chr5:35713470-35713471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564102850	chr5:35713563-35713564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Myofibroblastic sarcoma	19369631	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	20864512	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	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
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Non-small cell lung cancer	19010865	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	19553991	CNVD
Lung cancer	19553991	CNVD
Melanoma	19553991	CNVD
Ovarian cancer	19553991	CNVD
Prostate cancer	19553991	CNVD
Non-small cell lung cancer	17156491	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Lung cancer	19153074	CNVD
Breast cancer	21364760	CNVD
Cornelia de Lange syndrome	21085971	CNVD
Autism	21701786	CNVD
Cervical cancer	16585170	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:35693800-35714000	Weak transcription	Brain Anterior Caudate	brain
2	chr5:35697000-35717000	Weak transcription	Left Ventricle	heart
3	chr5:35699400-35720600	Weak transcription	Monocytes-CD14+_RO01746	blood

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