Variant report

Variant	esv2517640
Chromosome Location	chr5:15905709-15913157
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 117 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:117 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539414157	chr5:15905711-15905712	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs560012560	chr5:15905712-15905713	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs143305473	chr5:15905714-15905715	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs557507306	chr5:15905747-15905748	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs75321755	chr5:15905789-15905790	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs575996383	chr5:15905790-15905791	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs543102395	chr5:15905798-15905799	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs140979158	chr5:15905805-15905806	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs575050499	chr5:15905836-15905837	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs73752384	chr5:15905896-15905897	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs560766194	chr5:15905903-15905904	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs559988446	chr5:15905950-15905951	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs114374160	chr5:15905973-15905974	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs78806499	chr5:15906072-15906073	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542399757	chr5:15906078-15906079	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs189113215	chr5:15906083-15906084	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs116694073	chr5:15906114-15906115	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568249633	chr5:15906146-15906147	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535249142	chr5:15906195-15906196	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs16867819	chr5:15906196-15906197	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs116555900	chr5:15906207-15906208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181449845	chr5:15906224-15906225	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558033149	chr5:15906231-15906232	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575917168	chr5:15906263-15906264	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537063838	chr5:15906282-15906283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184635819	chr5:15906335-15906336	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189095798	chr5:15906337-15906338	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181480349	chr5:15906367-15906368	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560629991	chr5:15906373-15906374	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572604624	chr5:15906407-15906408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546152884	chr5:15906408-15906409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186065303	chr5:15906433-15906434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531593550	chr5:15906455-15906456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189647064	chr5:15906458-15906459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549790540	chr5:15906463-15906464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561843793	chr5:15906494-15906495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529386294	chr5:15906514-15906515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs144925076	chr5:15906525-15906526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs78411276	chr5:15906528-15906529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs74431391	chr5:15906545-15906546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs71605516	chr5:15906546-15906547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs397996858	chr5:15906564-15906565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370444716	chr5:15906616-15906617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565688358	chr5:15906622-15906623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs34465454	chr5:15906623-15906624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7734198	chr5:15906624-15906625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs397882220	chr5:15906637-15906638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371471161	chr5:15906679-15906680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373746393	chr5:15906693-15906694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs151298909	chr5:15906697-15906698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	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
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	21364760	CNVD
Williams Syndrome	20824207	CNVD
Urothelial carcinoma	21177765	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Myoepithelioma	18604193	CNVD
Lung cancer	16740712	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:15899800-15906200	Enhancers	Fetal Lung	lung
2	chr5:15900200-15915400	Weak transcription	Small Intestine	intestine
3	chr5:15900600-15906000	Enhancers	Brain Substantia Nigra	brain
4	chr5:15904400-15906000	Enhancers	Duodenum Smooth Muscle	Duodenum
5	chr5:15904400-15906400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:15904600-15905800	Weak transcription	Colon Smooth Muscle	Colon
7	chr5:15904600-15906000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:15904600-15913000	Weak transcription	Fetal Stomach	stomach
9	chr5:15904800-15906000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr5:15905000-15905800	Active TSS	Ovary	ovary
11	chr5:15905000-15906000	Enhancers	Rectal Smooth Muscle	rectum
12	chr5:15905000-15906200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr5:15905000-15906200	Enhancers	Adipose Nuclei	Adipose
14	chr5:15905200-15906200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr5:15905400-15906200	Weak transcription	NHLF	lung
16	chr5:15905800-15906000	Enhancers	Colon Smooth Muscle	Colon
17	chr5:15905800-15906000	Flanking Active TSS	Ovary	ovary
18	chr5:15906200-15906400	Enhancers	NHLF	lung
19	chr5:15912200-15912600	Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr5:15912200-15912800	Active TSS	H1 Cell Line	embryonic stem cell
21	chr5:15912400-15912600	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr5:15912400-15912800	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr5:15912400-15912800	Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr5:15912600-15913000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr5:15912600-15913000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr5:15912600-15913200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr5:15912600-15914000	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr5:15912800-15913000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr5:15912800-15913000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr5:15912800-15913200	Enhancers	H1 Cell Line	embryonic stem cell
31	chr5:15912800-15913200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr5:15912800-15913400	Enhancers	Fetal Lung	lung
33	chr5:15912800-15913800	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr5:15913000-15913200	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr5:15913000-15913200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
36	chr5:15913000-15913400	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr5:15913000-15914000	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr5:15913000-15914000	Enhancers	Fetal Heart	heart
39	chr5:15913000-15915600	Enhancers	Fetal Stomach	stomach

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