Variant report

Variant	esv1938616
Chromosome Location	chr5:53027504-53027977
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 88 )

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	rs572311669	chr5:53027537-53027538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs536319849	chr5:53027539-53027540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs151333660	chr5:53027545-53027546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs140445087	chr5:53027546-53027547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs150413895	chr5:53027573-53027574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs146565674	chr5:53027588-53027589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs570965083	chr5:53027590-53027591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs565449669	chr5:53027638-53027639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs147216797	chr5:53027641-53027642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs368689482	chr5:53027642-53027643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs75954651	chr5:53027643-53027644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs141301274	chr5:53027671-53027672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs545083461	chr5:53027686-53027687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs560097946	chr5:53027707-53027708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs73754297	chr5:53027752-53027753	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs190284356	chr5:53027854-53027855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs72757306	chr5:53027864-53027865	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs531484254	chr5:53027865-53027866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs575425661	chr5:53027876-53027877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs77163909	chr5:53027893-53027894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs538758678	chr5:53027903-53027904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs111831372	chr5:53027909-53027910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs112265004	chr5:53027918-53027919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs554017687	chr5:53027942-53027943	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Chronic lymphocytic leukemia	21546498	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
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21364760	CNVD
Oral cancer	21386901	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:53026600-53028000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr5:53026600-53028000	Enhancers	HUVEC	blood vessel
3	chr5:53026800-53027600	Enhancers	Primary hematopoietic stem cells	blood
4	chr5:53026800-53027800	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr5:53027000-53027600	Enhancers	Primary B cells from cord blood	blood
6	chr5:53027200-53028200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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