Variant report

Variant	nsv881442
Chromosome Location	chr5:45291514-45457077
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	chr5:45232284..45234490-chr5:45416046..45418115,2	MCF-7	breast:
2	chr5:45389967..45392520-chr5:45393920..45396887,2	K562	blood:
3	chr3:104438340..104439030-chr5:45401914..45402431,2	MCF-7	breast:
4	chr5:45389967..45392520-chr5:45393920..45396887,2	K562	blood:
5	chr5:45435601..45437646-chr5:45441992..45444757,2	K562	blood:
6	chr5:45423533..45425292-chr5:45434104..45435924,2	MCF-7	breast:
7	chr5:45292372..45295265-chr5:45301198..45304020,2	MCF-7	breast:
8	chr5:45435601..45437646-chr5:45441992..45444757,2	K562	blood:
9	chr5:45423533..45425292-chr5:45434104..45435924,2	MCF-7	breast:
10	chr5:45292372..45295265-chr5:45301198..45304020,2	MCF-7	breast:

No data

Extended variants
information (count: 1830 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:1830 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544389426	chr5:45296811-45296812	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs561179105	chr5:45296823-45296824	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs574740269	chr5:45296831-45296832	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs114554791	chr5:45296854-45296855	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs559884910	chr5:45296867-45296868	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs570124930	chr5:45296906-45296907	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs571908257	chr5:45296939-45296940	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs532268516	chr5:45296964-45296965	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs551964841	chr5:45296966-45296967	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs115185858	chr5:45296967-45296968	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs192311418	chr5:45297005-45297006	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs548333726	chr5:45297062-45297063	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs145975241	chr5:45297090-45297091	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs568416097	chr5:45297119-45297120	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs184564123	chr5:45297122-45297123	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs189800493	chr5:45297149-45297150	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs539534957	chr5:45297211-45297212	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs570739373	chr5:45297212-45297213	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs539948037	chr5:45297237-45297238	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs182473133	chr5:45297242-45297243	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs556401234	chr5:45297270-45297271	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs570126350	chr5:45297305-45297306	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs367745252	chr5:45297308-45297309	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs557914385	chr5:45297336-45297337	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs554802950	chr5:45297337-45297338	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs575931814	chr5:45297351-45297352	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs574828267	chr5:45297390-45297391	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs187048989	chr5:45297391-45297392	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs553759775	chr5:45297406-45297407	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs78666593	chr5:45297493-45297494	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs576785975	chr5:45297504-45297505	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs201410059	chr5:45297553-45297554	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs545749172	chr5:45297557-45297558	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs189594014	chr5:45297558-45297559	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs139852940	chr5:45297597-45297598	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs531259336	chr5:45297602-45297603	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs180765470	chr5:45297612-45297613	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs143412667	chr5:45297654-45297655	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs528020848	chr5:45297662-45297663	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs547749412	chr5:45297670-45297671	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs185662550	chr5:45297674-45297675	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs533184565	chr5:45297696-45297697	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs370416378	chr5:45297713-45297714	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs550105112	chr5:45297715-45297716	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs543418698	chr5:45297735-45297736	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs565948044	chr5:45297797-45297798	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs190075201	chr5:45297804-45297805	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs72759959	chr5:45297815-45297816	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs182398099	chr5:45297880-45297881	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs533961227	chr5:45297931-45297932	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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:45296800-45298000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
2	chr5:45310800-45312800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
3	chr5:45333800-45334400	Enhancers	Fetal Heart	heart
4	chr5:45334400-45335000	Flanking Active TSS	Fetal Heart	heart
5	chr5:45334400-45336800	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr5:45334600-45337000	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr5:45335000-45337000	Enhancers	Fetal Heart	heart
8	chr5:45344800-45345400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr5:45345600-45347200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
10	chr5:45345600-45347200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
11	chr5:45345800-45347000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
12	chr5:45345800-45347000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
13	chr5:45347000-45347400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr5:45353600-45354200	Enhancers	Fetal Brain Male	brain
15	chr5:45361400-45361600	Enhancers	Pancreas	Pancrea
16	chr5:45361600-45363400	Weak transcription	Pancreas	Pancrea
17	chr5:45363400-45363600	Enhancers	Pancreas	Pancrea
18	chr5:45376400-45377200	Enhancers	HUVEC	blood vessel
19	chr5:45376400-45380200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr5:45380200-45380400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr5:45380400-45380600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr5:45383000-45383200	Enhancers	Hela-S3	cervix
23	chr5:45383400-45385200	Weak transcription	Hela-S3	cervix
24	chr5:45384000-45385600	Enhancers	HUVEC	blood vessel
25	chr5:45384200-45385800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr5:45384800-45385400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr5:45384800-45386600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr5:45385200-45385600	Enhancers	Adipose Nuclei	Adipose
29	chr5:45385200-45386200	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr5:45385200-45386400	Enhancers	Hela-S3	cervix
31	chr5:45385400-45385800	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr5:45385400-45386200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr5:45385600-45386000	Weak transcription	Adipose Nuclei	Adipose
34	chr5:45385600-45386400	Flanking Active TSS	HUVEC	blood vessel
35	chr5:45385800-45386200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr5:45385800-45386600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr5:45385800-45386600	Enhancers	NH-A	brain
38	chr5:45386000-45386600	Enhancers	Adipose Nuclei	Adipose
39	chr5:45386200-45386600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr5:45386200-45386800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr5:45386400-45386600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr5:45386400-45386600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr5:45386400-45387000	Enhancers	HUVEC	blood vessel
44	chr5:45395200-45396600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr5:45396600-45396800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr5:45396800-45399400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr5:45398200-45403000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr5:45398600-45399600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr5:45399200-45399400	Enhancers	H9 Cell Line	embryonic stem cell
50	chr5:45399200-45399400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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