Variant report

Variant	nsv881636
Chromosome Location	chr5:45343810-45470423
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:45435601..45437646-chr5:45441992..45444757,2	K562	blood:
2	chr5:45423533..45425292-chr5:45434104..45435924,2	MCF-7	breast:
3	chr5:45389967..45392520-chr5:45393920..45396887,2	K562	blood:
4	chr5:45232284..45234490-chr5:45416046..45418115,2	MCF-7	breast:
5	chr5:45423533..45425292-chr5:45434104..45435924,2	MCF-7	breast:
6	chr5:45435601..45437646-chr5:45441992..45444757,2	K562	blood:
7	chr3:104438340..104439030-chr5:45401914..45402431,2	MCF-7	breast:
8	chr5:45468898..45471467-chr5:45477657..45479826,2	MCF-7	breast:
9	chr1:205318512..205319277-chr5:45469628..45470349,2	MCF-7	breast:
10	chr5:45389967..45392520-chr5:45393920..45396887,2	K562	blood:

No data

Extended variants
information (count: 1543 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:1543 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576710727	chr5:45344800-45344801	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs372675182	chr5:45344809-45344810	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs149545376	chr5:45344820-45344821	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs561866907	chr5:45344822-45344823	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs114262321	chr5:45344823-45344824	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs189586398	chr5:45344849-45344850	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs147186977	chr5:45344853-45344854	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs529201722	chr5:45344854-45344855	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs180817943	chr5:45344861-45344862	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs549853811	chr5:45344903-45344904	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs185907332	chr5:45344983-45344984	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs78570409	chr5:45345025-45345026	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs559915786	chr5:45345041-45345042	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs373417113	chr5:45345074-45345075	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs537627552	chr5:45345084-45345085	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs547395551	chr5:45345125-45345126	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs377343802	chr5:45345126-45345127	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs568277458	chr5:45345145-45345146	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs534063058	chr5:45345151-45345152	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs559527477	chr5:45345182-45345183	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs533674112	chr5:45345195-45345196	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs553488252	chr5:45345233-45345234	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs576766589	chr5:45345241-45345242	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs140527677	chr5:45345250-45345251	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs556273720	chr5:45345257-45345258	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs143073319	chr5:45345263-45345264	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs542458756	chr5:45345269-45345270	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs562281441	chr5:45345359-45345360	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs561665926	chr5:45345369-45345370	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs572653624	chr5:45345390-45345391	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs541670536	chr5:45345400-45345401	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs529311594	chr5:45345622-45345623	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs537657784	chr5:45345705-45345706	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs548104404	chr5:45345710-45345711	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs568198135	chr5:45345729-45345730	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs533852227	chr5:45345741-45345742	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs376826985	chr5:45345742-45345743	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs114830364	chr5:45345756-45345757	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs373399474	chr5:45345802-45345803	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs539426899	chr5:45345805-45345806	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs2330703	chr5:45345858-45345859	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs181086693	chr5:45345863-45345864	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs535497372	chr5:45345864-45345865	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs142790787	chr5:45345898-45345899	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs572591683	chr5:45345900-45345901	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs568165978	chr5:45345950-45345951	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs151046710	chr5:45345984-45345985	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs558407633	chr5:45346002-45346003	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs113408749	chr5:45346039-45346040	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs543426110	chr5:45346057-45346058	ZNF genes & repeats	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:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:45344800-45345400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:45345600-45347200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
3	chr5:45345600-45347200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
4	chr5:45345800-45347000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
5	chr5:45345800-45347000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
6	chr5:45347000-45347400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr5:45353600-45354200	Enhancers	Fetal Brain Male	brain
8	chr5:45361400-45361600	Enhancers	Pancreas	Pancrea
9	chr5:45361600-45363400	Weak transcription	Pancreas	Pancrea
10	chr5:45363400-45363600	Enhancers	Pancreas	Pancrea
11	chr5:45376400-45377200	Enhancers	HUVEC	blood vessel
12	chr5:45376400-45380200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr5:45380200-45380400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr5:45380400-45380600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr5:45383000-45383200	Enhancers	Hela-S3	cervix
16	chr5:45383400-45385200	Weak transcription	Hela-S3	cervix
17	chr5:45384000-45385600	Enhancers	HUVEC	blood vessel
18	chr5:45384200-45385800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:45384800-45385400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr5:45384800-45386600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr5:45385200-45385600	Enhancers	Adipose Nuclei	Adipose
22	chr5:45385200-45386200	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr5:45385200-45386400	Enhancers	Hela-S3	cervix
24	chr5:45385400-45385800	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr5:45385400-45386200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr5:45385600-45386000	Weak transcription	Adipose Nuclei	Adipose
27	chr5:45385600-45386400	Flanking Active TSS	HUVEC	blood vessel
28	chr5:45385800-45386200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr5:45385800-45386600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr5:45385800-45386600	Enhancers	NH-A	brain
31	chr5:45386000-45386600	Enhancers	Adipose Nuclei	Adipose
32	chr5:45386200-45386600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr5:45386200-45386800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr5:45386400-45386600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr5:45386400-45386600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr5:45386400-45387000	Enhancers	HUVEC	blood vessel
37	chr5:45395200-45396600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr5:45396600-45396800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr5:45396800-45399400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr5:45398200-45403000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr5:45398600-45399600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr5:45399200-45399400	Enhancers	H9 Cell Line	embryonic stem cell
43	chr5:45399200-45399400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr5:45399200-45399400	Enhancers	Pancreas	Pancrea
45	chr5:45399400-45403000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr5:45402800-45403800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr5:45403000-45403400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr5:45403000-45403800	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr5:45403000-45403800	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr5:45403200-45403600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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