Variant report

Variant	esv3469212
Chromosome Location	chr5:50234306-50239538
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:50233489..50235241-chr5:50248596..50251574,2	K562	blood:
2	chr5:50227478..50230397-chr5:50232947..50234974,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251601	chromatin interactions

Extended variants
information (count: 24 )
Associated
traits (count: 84 )

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	rs573692522	chr5:50234315-50234316	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs151986	chr5:50234325-50234326	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs562305368	chr5:50234356-50234357	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs76116226	chr5:50234381-50234382	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs560999248	chr5:50234382-50234383	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs372024920	chr5:50234383-50234384	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs192175521	chr5:50234443-50234444	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs185043655	chr5:50234459-50234460	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs533127591	chr5:50234465-50234466	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs152700	chr5:50234504-50234505	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs73108750	chr5:50234541-50234542	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs529378725	chr5:50234636-50234637	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs115737730	chr5:50234700-50234701	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs189888799	chr5:50234709-50234710	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs112007408	chr5:50234726-50234727	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs551664957	chr5:50234745-50234746	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs181117328	chr5:50234755-50234756	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs536605216	chr5:50234760-50234761	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs184874018	chr5:50234799-50234800	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs573602143	chr5:50234844-50234845	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs374772427	chr5:50234845-50234846	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs536324536	chr5:50234886-50234887	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs72756185	chr5:50234945-50234946	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs572272137	chr5:50234954-50234955	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	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
Breast cancer	21364760	CNVD
Oral cancer	21386901	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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