Variant report

Variant	esv2419947
Chromosome Location	chr5:1940958-1941654
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562166743	chr5:1941003-1941004	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs369187128	chr5:1941026-1941027	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs369834534	chr5:1941049-1941050	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs72706770	chr5:1941082-1941083	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs376064056	chr5:1941127-1941128	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs370816714	chr5:1941128-1941129	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563771033	chr5:1941155-1941156	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs112774104	chr5:1941157-1941158	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs562870589	chr5:1941188-1941189	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs566246184	chr5:1941191-1941192	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530740925	chr5:1941197-1941198	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373883926	chr5:1941207-1941208	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs71595084	chr5:1941247-1941248	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs58700757	chr5:1941316-1941317	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548556116	chr5:1941320-1941321	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528277160	chr5:1941361-1941362	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112505753	chr5:1941439-1941440	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs567832022	chr5:1941449-1941450	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535507749	chr5:1941450-1941451	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550334673	chr5:1941451-1941452	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs568820340	chr5:1941452-1941453	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs539786049	chr5:1941453-1941454	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558488026	chr5:1941454-1941455	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs76939677	chr5:1941485-1941486	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534402533	chr5:1941498-1941499	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184869034	chr5:1941545-1941546	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574071959	chr5:1941555-1941556	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs138318989	chr5:1941581-1941582	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs141914627	chr5:1941583-1941584	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577957048	chr5:1941615-1941616	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545735852	chr5:1941633-1941634	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189268277	chr5:1941647-1941648	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:112)

Disease	PMID	Source
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16608533	CNVD
Cervical cancer	16585170	CNVD
Glioblastoma multiforme	22286061	CNVD
Lung cancer	17925434	CNVD
Ovarian cancer	20844748	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	21829676	CNVD
Intracranial ependymoma	16609018	CNVD
Breast cancer	19181860	CNVD
prenatal diagnosis	20453657	CNVD
Developmental delay	19490664	CNVD
Human papillomavirus	17975027	CNVD
Acute monocytic leukemia	16498392	CNVD
Gastric cancer	16891809	CNVD
Intracranial aneurysm	16715129	CNVD
Emphysema	19352772	CNVD
Chordoma	18071362	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Lung cancer	21911935	CNVD
Cri-du chat syndrome	21549014	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
abnormal development	18461090	CNVD
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
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
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Oral cancer	22144094	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	17550852	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Developmental delay	21147756	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
Melanoma	22183965	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Schizophrenia	23813976	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:1932000-1943200	Weak transcription	Esophagus	oesophagus
2	chr5:1932000-1950800	Weak transcription	Gastric	stomach
3	chr5:1932200-1942200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr5:1932200-1945600	Weak transcription	Right Ventricle	heart
5	chr5:1932200-1946400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr5:1933000-1942200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr5:1934400-1942400	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr5:1935400-1945600	Weak transcription	Left Ventricle	heart
9	chr5:1935600-1942200	Weak transcription	Aorta	Aorta
10	chr5:1935600-1950800	Weak transcription	Pancreas	Pancrea
11	chr5:1936000-1941000	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr5:1936000-1942000	Weak transcription	Brain Anterior Caudate	brain
13	chr5:1936000-1942200	Weak transcription	Ovary	ovary
14	chr5:1937400-1942200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr5:1938000-1941600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr5:1938200-1948200	Weak transcription	HMEC	breast
17	chr5:1938400-1943200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr5:1939000-1965600	Weak transcription	Brain Angular Gyrus	brain
19	chr5:1939200-1944000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr5:1941400-1944000	Weak transcription	Fetal Muscle Trunk	muscle
21	chr5:1941600-1942800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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