Variant report

Variant	esv1792214
Chromosome Location	chr5:45191744-45193745
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	chr5:45189744..45191464-chr5:45191625..45193258,2	MCF-7	breast:

Extended variants
information (count: 66 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543792754	chr5:45191799-45191800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs147573273	chr5:45191814-45191815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574228143	chr5:45191831-45191832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs141961733	chr5:45191847-45191848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561949143	chr5:45191857-45191858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192944219	chr5:45191861-45191862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183535671	chr5:45191862-45191863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188026902	chr5:45191888-45191889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563990134	chr5:45191891-45191892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs527901494	chr5:45191918-45191919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145724492	chr5:45191932-45191933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs549405855	chr5:45191947-45191948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192509172	chr5:45191955-45191956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538428323	chr5:45192008-45192009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548790009	chr5:45192042-45192043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs148223978	chr5:45192049-45192050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534878960	chr5:45192057-45192058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183944648	chr5:45192074-45192075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558431842	chr5:45192078-45192079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571932565	chr5:45192103-45192104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs537733918	chr5:45192110-45192111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188324794	chr5:45192195-45192196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs13164730	chr5:45192209-45192210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566412661	chr5:45192237-45192238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369580960	chr5:45192272-45192273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs62367470	chr5:45192276-45192277	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs369389834	chr5:45192314-45192315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543120642	chr5:45192356-45192357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs115380899	chr5:45192379-45192380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs140164794	chr5:45192413-45192414	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540825398	chr5:45192432-45192433	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs150356725	chr5:45192460-45192461	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533103238	chr5:45192482-45192483	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543289266	chr5:45192536-45192537	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372967422	chr5:45192554-45192555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs562976572	chr5:45192589-45192590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368502959	chr5:45192606-45192607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs138024988	chr5:45192627-45192628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs542361999	chr5:45192676-45192677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs114338967	chr5:45192700-45192701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs557429855	chr5:45192724-45192725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs191244678	chr5:45192797-45192798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs565593024	chr5:45192825-45192826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs116451824	chr5:45192828-45192829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs184870215	chr5:45192851-45192852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs571869604	chr5:45192874-45192875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs111800202	chr5:45192892-45192893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs537770926	chr5:45192910-45192911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs557673234	chr5:45192935-45192936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs567683668	chr5:45192992-45192993	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	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
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
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
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	22286061	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hirschsprung''s Disease	21712996	CNVD
Intellectual disability	21811512	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:45182400-45192400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr5:45184400-45192600	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr5:45192400-45193200	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr5:45192400-45193400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr5:45192400-45193400	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr5:45192600-45193400	Enhancers	HUES64 Cell Line	embryonic stem cell

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