Variant report

Variant	esv3390192
Chromosome Location	chr5:1866730-1867808
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:1859280..1863274-chr5:1864834..1867333,4	K562	blood:
2	chr5:1799200..1802760-chr5:1865091..1870537,7	MCF-7	breast:
3	chr5:1831073..1835336-chr5:1866302..1869597,4	MCF-7	breast:
4	chr5:1768482..1770789-chr5:1865352..1867896,2	MCF-7	breast:
5	chr5:1824315..1827809-chr5:1864869..1867236,3	MCF-7	breast:
6	chr5:1864379..1866882-chr5:1868462..1869991,2	MCF-7	breast:
7	chr5:1867399..1868193-chr5:1883268..1884191,2	MCF-7	breast:
8	chr5:1839864..1842006-chr5:1865990..1868599,2	MCF-7	breast:
9	chr5:1796320..1803050-chr5:1863900..1869410,15	MCF-7	breast:
10	chr5:1863691..1867065-chr5:1867845..1871510,7	MCF-7	breast:
11	chr5:1861297..1869696-chr5:1879554..1886808,27	MCF-7	breast:
12	chr5:1851595..1853434-chr5:1866087..1867656,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000171421	chromatin interactions
ENSG00000113430	chromatin interactions
ENSG00000145494	chromatin interactions
ENSG00000249116	chromatin interactions

Extended variants
information (count: 57 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549536878	chr5:1866741-1866742	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs190620137	chr5:1866755-1866756	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs532675803	chr5:1866757-1866758	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs536590450	chr5:1866809-1866810	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs565979252	chr5:1866820-1866821	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs138032897	chr5:1866839-1866840	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs555079033	chr5:1866848-1866849	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs62335769	chr5:1866858-1866859	Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs537521021	chr5:1866875-1866876	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs558680946	chr5:1866884-1866885	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs62335770	chr5:1866893-1866894	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs70957397	chr5:1866914-1866915	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs577267368	chr5:1866918-1866919	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs545360199	chr5:1866945-1866946	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs555791508	chr5:1866965-1866966	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs75701612	chr5:1866968-1866969	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs35576499	chr5:1866969-1866970	Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs112586587	chr5:1866979-1866980	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs368941194	chr5:1866984-1866985	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs182839727	chr5:1866988-1866989	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs543465682	chr5:1867014-1867015	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs569169422	chr5:1867077-1867078	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs536734549	chr5:1867086-1867087	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs531979567	chr5:1867108-1867109	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs187078585	chr5:1867154-1867155	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs115168947	chr5:1867158-1867159	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs4975749	chr5:1867168-1867169	Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs528396306	chr5:1867196-1867197	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs548519181	chr5:1867250-1867251	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs570182861	chr5:1867252-1867253	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs537156012	chr5:1867333-1867334	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs73026195	chr5:1867360-1867361	Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs372271430	chr5:1867368-1867369	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs13178204	chr5:1867376-1867377	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs200741676	chr5:1867378-1867379	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs60412343	chr5:1867416-1867417	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs377025384	chr5:1867424-1867425	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs370701390	chr5:1867439-1867440	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs370641818	chr5:1867446-1867447	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs111456351	chr5:1867464-1867465	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs112110083	chr5:1867468-1867469	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs200550345	chr5:1867525-1867526	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs112522939	chr5:1867527-1867528	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs112644812	chr5:1867531-1867532	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs554477804	chr5:1867554-1867555	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs62335772	chr5:1867566-1867567	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs375940829	chr5:1867573-1867574	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs576177892	chr5:1867582-1867583	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs543200755	chr5:1867584-1867585	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs577032369	chr5:1867593-1867594	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:114)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:1854000-1872800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:1856000-1875400	Weak transcription	Right Atrium	heart
3	chr5:1866000-1868400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr5:1867400-1867600	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:1867400-1867600	Bivalent Enhancer	Esophagus	oesophagus
6	chr5:1867400-1867600	Bivalent Enhancer	Fetal Kidney	kidney
7	chr5:1867400-1867600	Flanking Bivalent TSS/Enh	Gastric	stomach
8	chr5:1867400-1867600	Flanking Bivalent TSS/Enh	Pancreas	Pancrea
9	chr5:1867400-1867600	ZNF genes & repeats	Spleen	Spleen
10	chr5:1867600-1868000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
11	chr5:1867600-1868400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr5:1867600-1870000	Weak transcription	Pancreas	Pancrea
13	chr5:1867800-1868000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell

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