Variant report

Variant	esv3469118
Chromosome Location	chr5:36357297-36357649
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73083986	chr5:36357298-36357299	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs564134003	chr5:36357308-36357309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs532819525	chr5:36357313-36357314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs540219842	chr5:36357376-36357377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs560130175	chr5:36357377-36357378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs528792029	chr5:36357378-36357379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs548803341	chr5:36357379-36357380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs568520199	chr5:36357380-36357381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs554557267	chr5:36357411-36357412	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs531049969	chr5:36357428-36357429	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs550768909	chr5:36357433-36357434	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs570901405	chr5:36357456-36357457	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs148704315	chr5:36357505-36357506	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs4513723	chr5:36357507-36357508	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs570912301	chr5:36357578-36357579	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs13164040	chr5:36357588-36357589	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs535316225	chr5:36357595-36357596	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs141418329	chr5:36357601-36357602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs150788779	chr5:36357602-36357603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs74471476	chr5:36357647-36357648	Weak transcription Enhancers	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
Prostate cancer	21147910	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36344400-36362000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:36354600-36359400	Weak transcription	NHEK	skin
3	chr5:36355800-36359200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:36356200-36359600	Weak transcription	Hela-S3	cervix
5	chr5:36356400-36358400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr5:36357000-36360400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr5:36357200-36357400	Enhancers	NH-A	brain
8	chr5:36357200-36357600	Enhancers	Fetal Stomach	stomach
9	chr5:36357200-36357800	Enhancers	Right Atrium	heart
10	chr5:36357200-36358000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr5:36357200-36358000	Enhancers	Left Ventricle	heart
12	chr5:36357200-36358200	Enhancers	Fetal Muscle Leg	muscle
13	chr5:36357200-36358200	Enhancers	NHLF	lung
14	chr5:36357200-36358400	Enhancers	Primary hematopoietic stem cells	blood
15	chr5:36357200-36358400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr5:36357200-36358800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr5:36357200-36359400	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr5:36357200-36359400	Enhancers	Fetal Heart	heart
19	chr5:36357200-36359800	Enhancers	HSMM	muscle
20	chr5:36357200-36360000	Enhancers	Fetal Lung	lung
21	chr5:36357200-36360400	Enhancers	Osteobl	bone
22	chr5:36357200-36360800	Enhancers	HSMMtube	muscle
23	chr5:36357400-36357600	Flanking Active TSS	NH-A	brain
24	chr5:36357400-36358000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr5:36357400-36358200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr5:36357400-36358400	Enhancers	NHDF-Ad	bronchial
27	chr5:36357400-36358600	Enhancers	Muscle Satellite Cultured Cells	--
28	chr5:36357400-36358800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr5:36357400-36360400	Enhancers	Placenta	Placenta
30	chr5:36357600-36357800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr5:36357600-36357800	Enhancers	NH-A	brain
32	chr5:36357600-36358000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr5:36357600-36358400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr5:36357600-36358400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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