Variant report

Variant	esv3513389
Chromosome Location	chr5:57678195-57686993
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:57679618..57681387-chr5:57685117..57687190,2	MCF-7	breast:
2	chr5:57679458..57681464-chr5:57685190..57686778,2	MCF-7	breast:
3	chr5:57684855..57687554-chr5:57691257..57692769,2	MCF-7	breast:
4	chr5:57679618..57681387-chr5:57685117..57687190,2	MCF-7	breast:
5	chr5:57679458..57681464-chr5:57685190..57686778,2	MCF-7	breast:
6	chr5:57685717..57687980-chr5:57753512..57756250,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145632	chromatin interactions

Extended variants
information (count: 132 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:132 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35917227	chr5:57678197-57678198	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs549345620	chr5:57678216-57678217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs147641828	chr5:57678231-57678232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537996813	chr5:57678237-57678238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs148702714	chr5:57678276-57678277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573490574	chr5:57678277-57678278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538509754	chr5:57678282-57678283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189080331	chr5:57678297-57678298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572110297	chr5:57678370-57678371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs142160308	chr5:57678377-57678378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554494152	chr5:57678424-57678425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192827240	chr5:57678456-57678457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2561440	chr5:57678560-57678561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs57114973	chr5:57678564-57678565	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs184311169	chr5:57678731-57678732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576938898	chr5:57678734-57678735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545346103	chr5:57678738-57678739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565440639	chr5:57678803-57678804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532089212	chr5:57678843-57678844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528004835	chr5:57678884-57678885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549552501	chr5:57678891-57678892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs114202347	chr5:57678922-57678923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189035802	chr5:57678923-57678924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs549864186	chr5:57678974-57678975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571279903	chr5:57679036-57679037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs34040598	chr5:57679070-57679071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs151204065	chr5:57679090-57679091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550243552	chr5:57679110-57679111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs4700281	chr5:57679148-57679149	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs547506635	chr5:57679171-57679172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs139180287	chr5:57679229-57679230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs374868460	chr5:57679231-57679232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs565939331	chr5:57679318-57679319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs536198784	chr5:57679356-57679357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs369490356	chr5:57679361-57679362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs372745208	chr5:57679365-57679366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs376985528	chr5:57679366-57679367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs6887561	chr5:57679373-57679374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs75304217	chr5:57679399-57679400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs6873644	chr5:57679447-57679448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs541000533	chr5:57679465-57679466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs140168024	chr5:57679471-57679472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs111877820	chr5:57679473-57679474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs370334832	chr5:57679517-57679518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs559133485	chr5:57679552-57679553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs572690462	chr5:57679586-57679587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs542959589	chr5:57679590-57679591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs59851734	chr5:57679597-57679598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs12657414	chr5:57679618-57679619	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs566303118	chr5:57679704-57679705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	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
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Renal cell carcinoma	18194544	CNVD
abnormal development	18461090	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Ovarian cancer	21720365	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57677200-57689600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr5:57679200-57679600	Enhancers	HMEC	breast
3	chr5:57679200-57679600	Enhancers	NHEK	skin
4	chr5:57686200-57686400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr5:57686600-57687600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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