Variant report

Variant	esv3512750
Chromosome Location	chr5:28890689-28894230
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	chr5:28892844..28895321-chr5:28897758..28899346,2	K562	blood:
2	chr5:28882757..28885638-chr5:28890766..28893255,2	K562	blood:

Variant related genes	Relation type
ENSG00000271035	chromatin interactions

Extended variants
information (count: 41 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532370780	chr5:28892923-28892924	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs547430097	chr5:28892949-28892950	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs140815361	chr5:28893185-28893186	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs201719153	chr5:28893223-28893224	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs536319008	chr5:28893224-28893225	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs78305901	chr5:28893233-28893234	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs371598809	chr5:28893265-28893266	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs72758561	chr5:28893282-28893283	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs558887817	chr5:28893285-28893286	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs150013968	chr5:28893334-28893335	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs534923635	chr5:28893343-28893344	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs73749834	chr5:28893415-28893416	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs574397148	chr5:28893424-28893425	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs191097889	chr5:28893519-28893520	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs200973099	chr5:28893530-28893531	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs527277469	chr5:28893531-28893532	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs535221282	chr5:28893562-28893563	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs368777822	chr5:28893592-28893593	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs576209905	chr5:28893648-28893649	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs372754360	chr5:28893655-28893656	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs543658487	chr5:28893683-28893684	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs565229993	chr5:28893709-28893710	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs558262764	chr5:28893735-28893736	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs145226344	chr5:28893765-28893766	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs548089937	chr5:28893782-28893783	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs149139306	chr5:28893791-28893792	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs530140320	chr5:28893830-28893831	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs182648277	chr5:28893965-28893966	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs558420827	chr5:28893968-28893969	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs186620008	chr5:28893982-28893983	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs115484222	chr5:28893993-28893994	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs114906918	chr5:28894011-28894012	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs534889593	chr5:28894038-28894039	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs553247635	chr5:28894062-28894063	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs78782776	chr5:28894080-28894081	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs372196653	chr5:28894087-28894088	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs11738914	chr5:28894093-28894094	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs529903617	chr5:28894113-28894114	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs556780080	chr5:28894121-28894122	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs575038016	chr5:28894131-28894132	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs576839769	chr5:28894167-28894168	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
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
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
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	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
Lung cancer	16740712	CNVD
Renal cell carcinoma	18194544	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Non-small cell lung cancer	19010865	CNVD
Glioblastoma multiforme	22286061	CNVD
Compulsive disorder	18923513	CNVD
Epilepsy	18923513	CNVD
Prader-willi syndrome	18923513	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD

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

No data

Quick Search:

Input of quick search could be:

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

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links