Variant report

Variant	esv1843779
Chromosome Location	chr5:45363063-45409900
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:45389967..45392520-chr5:45393920..45396887,2	K562	blood:
2	chr5:45389967..45392520-chr5:45393920..45396887,2	K562	blood:
3	chr3:104438340..104439030-chr5:45401914..45402431,2	MCF-7	breast:

Extended variants
information (count: 797 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:797 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1392971	chr5:45363063-45363064	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs547695502	chr5:45363093-45363094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572247647	chr5:45363117-45363118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532428254	chr5:45363168-45363169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200592797	chr5:45363235-45363236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs202188356	chr5:45363246-45363247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376462762	chr5:45363247-45363248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs370714390	chr5:45363248-45363249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs34074894	chr5:45363268-45363269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs184542434	chr5:45363322-45363323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs368149234	chr5:45363324-45363325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570692678	chr5:45363386-45363387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553963438	chr5:45363462-45363463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs375674038	chr5:45363481-45363482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs576944349	chr5:45363483-45363484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs372396778	chr5:45363497-45363498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs142731016	chr5:45363511-45363512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs189052723	chr5:45363539-45363540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs531587297	chr5:45363592-45363593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs368065242	chr5:45376424-45376425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs370745942	chr5:45376425-45376426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs375604671	chr5:45376431-45376432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs368385124	chr5:45376434-45376435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs182270536	chr5:45376436-45376437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs201682954	chr5:45376440-45376441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs372754621	chr5:45376441-45376442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs550138135	chr5:45376449-45376450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs187341389	chr5:45376451-45376452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs374514550	chr5:45376452-45376453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs13188682	chr5:45376453-45376454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs144163740	chr5:45376455-45376456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs200787164	chr5:45376457-45376458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs574587436	chr5:45376468-45376469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs76739492	chr5:45376489-45376490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs190026618	chr5:45376518-45376519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs35485064	chr5:45376552-45376553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs577169947	chr5:45376558-45376559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs182298172	chr5:45376575-45376576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs114866075	chr5:45376592-45376593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs115551716	chr5:45376603-45376604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs541894268	chr5:45376655-45376656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs185141492	chr5:45376690-45376691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs190304605	chr5:45376692-45376693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs372484551	chr5:45376706-45376707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs547059783	chr5:45376717-45376718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs565719630	chr5:45376766-45376767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs564479336	chr5:45376774-45376775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs116071311	chr5:45376779-45376780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs549934266	chr5:45376780-45376781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs139577013	chr5:45376782-45376783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:45361600-45363400	Weak transcription	Pancreas	Pancrea
2	chr5:45363400-45363600	Enhancers	Pancreas	Pancrea
3	chr5:45376400-45377200	Enhancers	HUVEC	blood vessel
4	chr5:45376400-45380200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr5:45380200-45380400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr5:45380400-45380600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr5:45383000-45383200	Enhancers	Hela-S3	cervix
8	chr5:45383400-45385200	Weak transcription	Hela-S3	cervix
9	chr5:45384000-45385600	Enhancers	HUVEC	blood vessel
10	chr5:45384200-45385800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr5:45384800-45385400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr5:45384800-45386600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr5:45385200-45385600	Enhancers	Adipose Nuclei	Adipose
14	chr5:45385200-45386200	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr5:45385200-45386400	Enhancers	Hela-S3	cervix
16	chr5:45385400-45385800	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr5:45385400-45386200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr5:45385600-45386000	Weak transcription	Adipose Nuclei	Adipose
19	chr5:45385600-45386400	Flanking Active TSS	HUVEC	blood vessel
20	chr5:45385800-45386200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr5:45385800-45386600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr5:45385800-45386600	Enhancers	NH-A	brain
23	chr5:45386000-45386600	Enhancers	Adipose Nuclei	Adipose
24	chr5:45386200-45386600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr5:45386200-45386800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr5:45386400-45386600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr5:45386400-45386600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr5:45386400-45387000	Enhancers	HUVEC	blood vessel
29	chr5:45395200-45396600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr5:45396600-45396800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr5:45396800-45399400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr5:45398200-45403000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr5:45398600-45399600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr5:45399200-45399400	Enhancers	H9 Cell Line	embryonic stem cell
35	chr5:45399200-45399400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr5:45399200-45399400	Enhancers	Pancreas	Pancrea
37	chr5:45399400-45403000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr5:45402800-45403800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr5:45403000-45403400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr5:45403000-45403800	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr5:45403000-45403800	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr5:45403200-45403600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr5:45403200-45403800	Enhancers	H1 Cell Line	embryonic stem cell
44	chr5:45403200-45403800	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr5:45403200-45403800	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr5:45403200-45403800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr5:45403200-45404200	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr5:45403400-45404200	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr5:45403600-45404000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr5:45403800-45405600	Weak transcription	HUES64 Cell Line	embryonic stem cell

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