Variant report

Variant	esv3404130
Chromosome Location	chr5:1651202-1652800
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:1648921..1651237-chr5:1656586..1659159,2	MCF-7	breast:
2	chr5:1652097..1654972-chr5:1657057..1658557,2	K562	blood:
3	chr5:1651364..1654972-chr5:1656341..1659968,4	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564382672	chr5:1651210-1651211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs181362322	chr5:1651211-1651212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs144538890	chr5:1651284-1651285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs201368461	chr5:1651296-1651297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562184200	chr5:1651318-1651319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs529288450	chr5:1651320-1651321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568154725	chr5:1651337-1651338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550913411	chr5:1651383-1651384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569968273	chr5:1651452-1651453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537389337	chr5:1651470-1651471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs112555154	chr5:1651496-1651497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540339726	chr5:1651567-1651568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs372874314	chr5:1651570-1651571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534792481	chr5:1651579-1651580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200303537	chr5:1651587-1651588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs115218804	chr5:1651599-1651600	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
17	rs13167287	chr5:1651602-1651603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574437984	chr5:1651656-1651657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535109636	chr5:1651666-1651667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556587419	chr5:1651677-1651678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs185847438	chr5:1651692-1651693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs56122446	chr5:1651824-1651825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540195492	chr5:1651861-1651862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545199749	chr5:1651878-1651879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112479706	chr5:1651920-1651921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113298551	chr5:1651921-1651922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546125109	chr5:1652047-1652048	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564418739	chr5:1652137-1652138	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs62335958	chr5:1652141-1652142	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs540788229	chr5:1652192-1652193	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs62335959	chr5:1652224-1652225	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs181148198	chr5:1652227-1652228	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs546089946	chr5:1652309-1652310	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369237973	chr5:1652376-1652377	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562910473	chr5:1652458-1652459	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs533348074	chr5:1652463-1652464	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186072284	chr5:1652472-1652473	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570695795	chr5:1652509-1652510	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528289009	chr5:1652511-1652512	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112715847	chr5:1652526-1652527	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546730823	chr5:1652536-1652537	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs11269282	chr5:1652674-1652675	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373098188	chr5:1652683-1652684	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535579933	chr5:1652702-1652703	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556625217	chr5:1652734-1652735	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568543244	chr5:1652738-1652739	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:113)

Disease	PMID	Source
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16608533	CNVD
Cervical cancer	16585170	CNVD
Glioblastoma multiforme	22286061	CNVD
Lung cancer	17925434	CNVD
Ovarian cancer	20844748	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	21829676	CNVD
Intracranial ependymoma	16609018	CNVD
Breast cancer	19181860	CNVD
prenatal diagnosis	20453657	CNVD
Developmental delay	19490664	CNVD
Human papillomavirus	17975027	CNVD
Acute monocytic leukemia	16498392	CNVD
Gastric cancer	16891809	CNVD
Intracranial aneurysm	16715129	CNVD
Emphysema	19352772	CNVD
Chordoma	18071362	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Lung cancer	21911935	CNVD
Cri-du chat syndrome	21549014	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
abnormal development	18461090	CNVD
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	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
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21509527	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Oral cancer	22144094	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	17550852	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Developmental delay	21147756	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
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Melanoma	22183965	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Intellectual disability	21811512	CNVD
Lung adenocarcinoma	21935476	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:1645800-1653000	Weak transcription	Spleen	Spleen
2	chr5:1652000-1652600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr5:1652000-1653200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr5:1652200-1652800	Enhancers	Dnd41	blood
5	chr5:1652200-1652800	Bivalent Enhancer	Hela-S3	cervix
6	chr5:1652200-1653200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr5:1652200-1653200	Enhancers	A549	lung
8	chr5:1652200-1653400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
9	chr5:1652400-1652800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
10	chr5:1652400-1653200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr5:1652600-1652800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr5:1652600-1653600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
13	chr5:1652600-1655000	Enhancers	Primary B cells from cord blood	blood
14	chr5:1652800-1653000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr5:1652800-1653000	Bivalent Enhancer	Fetal Intestine Large	intestine
16	chr5:1652800-1653000	Bivalent Enhancer	Dnd41	blood
17	chr5:1652800-1653200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr5:1652800-1653400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr5:1652800-1653400	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
20	chr5:1652800-1653400	Enhancers	Right Ventricle	heart
21	chr5:1652800-1653400	Bivalent Enhancer	NHLF	lung
22	chr5:1652800-1653600	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr5:1652800-1653600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
24	chr5:1652800-1653800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
25	chr5:1652800-1654000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr5:1652800-1654000	Bivalent Enhancer	Colon Smooth Muscle	Colon
27	chr5:1652800-1654200	Bivalent Enhancer	Placenta	Placenta
28	chr5:1652800-1654200	Enhancers	Pancreas	Pancrea

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