Variant report

Variant	esv3426659
Chromosome Location	chr5:44494020-44496957
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	chr5:44495531..44496060-chr5:44774142..44775059,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FGF10-1	chr5:44495720-44495895	ENSG00000249203

Extended variants
information (count: 50 )
Associated
traits (count: 88 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146321143	chr5:44494608-44494609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs386687752	chr5:44494651-44494652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs10941667	chr5:44494681-44494682	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs548638928	chr5:44494715-44494716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs545857551	chr5:44494733-44494734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs139726292	chr5:44494758-44494759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs34996429	chr5:44494771-44494772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs560211768	chr5:44494777-44494778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs149020439	chr5:44495720-44495721	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs549909252	chr5:44495765-44495766	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs563432770	chr5:44495786-44495787	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs548946231	chr5:44496003-44496004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs531578562	chr5:44496030-44496031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs147707719	chr5:44496031-44496032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs535025669	chr5:44496067-44496068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs71584718	chr5:44496112-44496113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs1384453	chr5:44496114-44496115	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs537646866	chr5:44496124-44496125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs535384023	chr5:44496140-44496141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs556332765	chr5:44496159-44496160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs576188674	chr5:44496172-44496173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs535470519	chr5:44496193-44496194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs185132850	chr5:44496216-44496217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs111625832	chr5:44496221-44496222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs368566296	chr5:44496261-44496262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs147797379	chr5:44496294-44496295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs564403844	chr5:44496304-44496305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs368562802	chr5:44496327-44496328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs371937910	chr5:44496379-44496380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs577802749	chr5:44496414-44496415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs2062140	chr5:44496415-44496416	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs187979780	chr5:44496422-44496423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs529370011	chr5:44496483-44496484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs539429578	chr5:44496484-44496485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs75733505	chr5:44496485-44496486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs369761770	chr5:44496497-44496498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs73752036	chr5:44496500-44496501	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs146979632	chr5:44496594-44496595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs111381284	chr5:44496612-44496613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs148025241	chr5:44496613-44496614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs569254154	chr5:44496624-44496625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs116305035	chr5:44496627-44496628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs551172507	chr5:44496652-44496653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs200265143	chr5:44496659-44496660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs5867669	chr5:44496660-44496661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs397738134	chr5:44496661-44496662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs181201360	chr5:44496729-44496730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs112021364	chr5:44496815-44496816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs572294066	chr5:44496831-44496832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs543856875	chr5:44496882-44496883	Weak transcription 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
Ovarian cancer	21720365	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
Breast cancer	21364760	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

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:44494600-44494800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:44496000-44499800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:44496600-44496800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:44496800-44509000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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