Variant report

Variant	esv2763929
Chromosome Location	chr5:45860022-45880382
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	chr17:56742322..56745282-chr5:45859385..45861280,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000199426	chromatin interactions

Extended variants
information (count: 83 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73094298	chr5:45860025-45860026	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs548803381	chr5:45860028-45860029	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs568529195	chr5:45860030-45860031	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs114054546	chr5:45860036-45860037	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs111911563	chr5:45860038-45860039	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs547786051	chr5:45860049-45860050	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs560234303	chr5:45860051-45860052	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs570854884	chr5:45860083-45860084	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs10060595	chr5:45860119-45860120	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs558851399	chr5:45860124-45860125	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs138514083	chr5:45860131-45860132	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs141534955	chr5:45860136-45860137	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs188641523	chr5:45860142-45860143	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs574160136	chr5:45860156-45860157	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs146194927	chr5:45860161-45860162	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs553327838	chr5:45860217-45860218	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs576813783	chr5:45860223-45860224	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs139197694	chr5:45860225-45860226	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs563151151	chr5:45860234-45860235	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs531921861	chr5:45860262-45860263	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs542411445	chr5:45860283-45860284	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs377284621	chr5:45860309-45860310	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs376790732	chr5:45860320-45860321	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs143319873	chr5:45860335-45860336	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs562292193	chr5:45860347-45860348	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs527766085	chr5:45860348-45860349	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs531372862	chr5:45860354-45860355	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs570745676	chr5:45860360-45860361	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs149543634	chr5:45860369-45860370	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs4516859	chr5:45860382-45860383	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs569090742	chr5:45860458-45860459	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs148668053	chr5:45860478-45860479	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs144689916	chr5:45860495-45860496	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs567941620	chr5:45860509-45860510	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs191698667	chr5:45860528-45860529	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs79844943	chr5:45860571-45860572	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs576869247	chr5:45860591-45860592	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs183204737	chr5:45860628-45860629	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs187071657	chr5:45860643-45860644	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs111787407	chr5:45860659-45860660	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs542570466	chr5:45860663-45860664	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs114677026	chr5:45860699-45860700	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs541532621	chr5:45860710-45860711	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs564554538	chr5:45860717-45860718	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs533273715	chr5:45860727-45860728	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs568168964	chr5:45860728-45860729	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs563553812	chr5:45860753-45860754	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs74578664	chr5:45860784-45860785	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs373121075	chr5:45860787-45860788	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs535599448	chr5:45860791-45860792	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	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
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
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	22037309	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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