Variant report

Variant	esv3404795
Chromosome Location	chr5:1845408-1845929
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	chr5:1800068..1802408-chr5:1843686..1845903,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145494	chromatin interactions
ENSG00000171421	chromatin interactions

Extended variants
information (count: 62 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs55688604	chr5:1845418-1845419	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs55860355	chr5:1845432-1845433	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs139796309	chr5:1845459-1845460	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs13179259	chr5:1845461-1845462	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs56320919	chr5:1845463-1845464	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs111163194	chr5:1845465-1845466	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs540070957	chr5:1845469-1845470	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs56236435	chr5:1845471-1845472	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs183630443	chr5:1845473-1845474	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs56052231	chr5:1845477-1845478	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs56199813	chr5:1845483-1845484	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs138453883	chr5:1845498-1845499	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs368814389	chr5:1845501-1845502	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs56397372	chr5:1845505-1845506	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs573728192	chr5:1845512-1845513	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs55833087	chr5:1845514-1845515	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs569390267	chr5:1845520-1845521	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs544312388	chr5:1845521-1845522	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs562396419	chr5:1845522-1845523	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs111161327	chr5:1845559-1845560	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs374147796	chr5:1845573-1845574	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs111161328	chr5:1845574-1845575	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs377356946	chr5:1845610-1845611	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs371114772	chr5:1845615-1845616	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs373799304	chr5:1845618-1845619	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs377659812	chr5:1845622-1845623	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs548936648	chr5:1845633-1845634	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs370892517	chr5:1845645-1845646	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs149382603	chr5:1845653-1845654	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs200609728	chr5:1845658-1845659	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs374574490	chr5:1845660-1845661	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs56651486	chr5:1845661-1845662	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs532990079	chr5:1845663-1845664	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs4975736	chr5:1845675-1845676	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs28970665	chr5:1845691-1845692	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs367627799	chr5:1845692-1845693	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs28972649	chr5:1845697-1845698	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs28970854	chr5:1845703-1845704	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs367872230	chr5:1845709-1845710	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs375352139	chr5:1845716-1845717	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs371421631	chr5:1845726-1845727	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs9800346	chr5:1845727-1845728	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs566323729	chr5:1845728-1845729	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs55952303	chr5:1845729-1845730	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs9799919	chr5:1845733-1845734	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs9800347	chr5:1845739-1845740	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs12186622	chr5:1845766-1845767	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs367944877	chr5:1845774-1845775	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs7380434	chr5:1845816-1845817	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs7378975	chr5:1845818-1845819	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:111)

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

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:1827600-1854000	Weak transcription	Right Atrium	heart
2	chr5:1841800-1846800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:1843000-1851600	Weak transcription	Fetal Heart	heart

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