Variant report

Variant	esv3400939
Chromosome Location	chr5:57522938-57523508
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113255033	chr5:57522967-57522968	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs534984260	chr5:57522981-57522982	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546843681	chr5:57522986-57522987	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185107590	chr5:57522992-57522993	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs116174283	chr5:57523039-57523040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557450271	chr5:57523141-57523142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs2910587	chr5:57523164-57523165	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs188329961	chr5:57523175-57523176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs142965543	chr5:57523226-57523227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs146642861	chr5:57523291-57523292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540533884	chr5:57523325-57523326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs141333351	chr5:57523326-57523327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573691217	chr5:57523354-57523355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544208277	chr5:57523364-57523365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562640871	chr5:57523370-57523371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376377922	chr5:57523371-57523372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550629605	chr5:57523381-57523382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2964202	chr5:57523441-57523442	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs193200631	chr5:57523455-57523456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201571892	chr5:57523471-57523472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546426403	chr5:57523477-57523478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs55966191	chr5:57523478-57523479	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs10059003	chr5:57523486-57523487	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs529501183	chr5:57523495-57523496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
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
Thoracic aortic aneurysm	21092924	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
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Acute myeloid leukemia	20729466	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
Hepatocellular carcinoma	16750200	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
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Renal cell carcinoma	18194544	CNVD
abnormal development	18461090	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Ovarian cancer	21720365	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57520600-57526000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr5:57520800-57526000	Weak transcription	NHEK	skin
3	chr5:57521000-57526000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr5:57521800-57535600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr5:57522000-57525200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr5:57522000-57525800	Weak transcription	Psoas Muscle	Psoas
7	chr5:57522200-57523000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:57522600-57531000	Weak transcription	Osteobl	bone
9	chr5:57522800-57524600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr5:57523000-57526200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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