Variant report
Variant | nsv882564 |
---|---|
Chromosome Location | chr5:104348000-104418330 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:118)
- CpG islands (count:0)
- Chromatin interactive region (count:6)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | ARID3A | chr5:104369169-104369636 | K562 | blood: | n/a | n/a |
2 | ATF1 | chr5:104373680-104373755 | K562 | blood: | n/a | n/a |
3 | ATF1 | chr5:104370024-104370214 | K562 | blood: | n/a | n/a |
4 | BHLHE40 | chr5:104369418-104369675 | K562 | blood: | n/a | n/a |
5 | BRCA1 | chr5:104393511-104393580 | GM12878 | blood: | n/a | n/a |
6 | CBX3 | chr5:104393078-104393434 | K562 | blood: | n/a | n/a |
7 | CBX3 | chr5:104393083-104393385 | K562 | blood: | n/a | n/a |
8 | CBX3 | chr5:104370642-104370939 | K562 | blood: | n/a | n/a |
9 | CCNT2 | chr5:104369421-104369754 | K562 | blood: | n/a | chr5:104369561-104369581 |
10 | CCNT2 | chr5:104370115-104370461 | K562 | blood: | n/a | n/a |
11 | CEBPB | chr5:104369987-104370554 | Hela-S3 | cervix: | n/a | chr5:104370351-104370364 chr5:104370351-104370362 chr5:104370353-104370364 |
12 | CEBPB | chr5:104370011-104370528 | HepG2 | liver: | n/a | chr5:104370351-104370364 chr5:104370351-104370362 chr5:104370353-104370364 |
13 | CEBPB | chr5:104369993-104370525 | K562 | blood: | n/a | chr5:104370351-104370364 chr5:104370351-104370362 chr5:104370353-104370364 |
14 | CEBPB | chr5:104391872-104392206 | HepG2 | liver: | n/a | chr5:104392017-104392026 chr5:104392042-104392059 chr5:104392015-104392026 chr5:104392045-104392056 |
15 | CEBPB | chr5:104369982-104370331 | K562 | blood: | n/a | n/a |
16 | CEBPB | chr5:104370069-104370367 | H1-hESC | embryonic stem cell: | n/a | chr5:104370351-104370364 chr5:104370351-104370362 chr5:104370353-104370364 |
17 | CEBPB | chr5:104373830-104373968 | HepG2 | liver: | n/a | n/a |
18 | CEBPB | chr5:104370108-104370517 | ECC-1 | luminal epithelium: | n/a | chr5:104370351-104370364 chr5:104370351-104370362 chr5:104370353-104370364 |
19 | CEBPB | chr5:104370063-104370467 | A549 | lung: | n/a | chr5:104370351-104370364 chr5:104370351-104370362 chr5:104370353-104370364 |
20 | CEBPB | chr5:104391916-104392212 | A549 | lung: | n/a | chr5:104392017-104392026 chr5:104392042-104392059 chr5:104392015-104392026 chr5:104392045-104392056 |
21 | CEBPB | chr5:104369173-104369683 | K562 | blood: | n/a | chr5:104369288-104369301 |
22 | CEBPD | chr5:104369352-104369808 | K562 | blood: | n/a | n/a |
23 | CTCF | chr5:104386370-104386472 | Kidney_OC | kidney: | n/a | n/a |
24 | CTCF | chr5:104386380-104386454 | GM10248 | blood: | n/a | n/a |
25 | CTCF | chr5:104389342-104389378 | MCF-7 | breast: | n/a | n/a |
26 | CTCF | chr5:104394548-104394560 | LNCaP | prostate: | n/a | n/a |
27 | CUX1 | chr5:104369453-104370241 | K562 | blood: | n/a | n/a |
28 | E2F4 | chr5:104399543-104399743 | MCF10A-Er-Src | breast: | n/a | n/a |
29 | E2F4 | chr5:104378291-104378393 | MCF10A-Er-Src | breast: | n/a | n/a |
30 | E2F4 | chr5:104358206-104358406 | MCF10A-Er-Src | breast: | n/a | n/a |
31 | E2F4 | chr5:104368954-104369463 | MCF10A-Er-Src | breast: | n/a | n/a |
32 | EP300 | chr5:104383833-104384109 | SK-N-SH_RA | brain: | n/a | n/a |
33 | EP300 | chr5:104369350-104370502 | K562 | blood: | n/a | chr5:104370179-104370193 chr5:104369800-104369814 chr5:104370352-104370366 chr5:104369731-104369745 |
34 | EP300 | chr5:104373654-104373968 | SK-N-SH_RA | brain: | n/a | chr5:104373911-104373919 |
35 | FOS | chr5:104396893-104396977 | MCF10A-Er-Src | breast: | n/a | n/a |
36 | FOS | chr5:104396813-104397065 | MCF10A-Er-Src | breast: | n/a | n/a |
37 | FOS | chr5:104384329-104384529 | HUVEC | blood vessel: | n/a | n/a |
38 | GATA2 | chr5:104383701-104384337 | SH-SY5Y | brain: | n/a | chr5:104383831-104383847 |
39 | GATA2 | chr5:104369314-104369735 | SH-SY5Y | brain: | n/a | chr5:104369570-104369579 chr5:104369561-104369578 chr5:104369570-104369580 chr5:104369551-104369564 chr5:104369572-104369579 chr5:104369565-104369586 chr5:104369572-104369579 chr5:104369572-104369579 chr5:104369567-104369583 |
40 | GATA3 | chr5:104373513-104374018 | SK-N-SH | brain: | n/a | chr5:104373977-104373987 |
41 | GATA3 | chr5:104383927-104384308 | SH-SY5Y | brain: | n/a | n/a |
42 | GATA3 | chr5:104369260-104369557 | SH-SY5Y | brain: | n/a | chr5:104369275-104369285 chr5:104369276-104369283 chr5:104369276-104369283 chr5:104369276-104369283 chr5:104369269-104369290 chr5:104369272-104369288 |
43 | GATA3 | chr5:104404784-104404926 | SH-SY5Y | brain: | n/a | n/a |
44 | GATA3 | chr5:104373506-104373686 | SH-SY5Y | brain: | n/a | n/a |
45 | GATA3 | chr5:104383951-104384334 | SK-N-SH | brain: | n/a | n/a |
46 | IRF1 | chr5:104369456-104369627 | K562 | blood: | n/a | n/a |
47 | JUND | chr5:104369355-104369737 | K562 | blood: | n/a | n/a |
48 | JUND | chr5:104363191-104363383 | HepG2 | liver: | n/a | chr5:104363257-104363268 |
49 | KAP1 | chr5:104392925-104393528 | HEK293 | kidney: | n/a | n/a |
50 | KAP1 | chr5:104393188-104393315 | K562 | blood: | n/a | n/a |
No data |
(count:6 , 50 per page) page:
1
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr5:104370391..104373072-chr5:104374539..104377725,3 | K562 | blood: | |
2 | chr5:104370391..104373072-chr5:104374539..104377725,3 | K562 | blood: | |
3 | chr5:104370391..104371902-chr5:104374539..104376562,2 | K562 | blood: | |
4 | chr5:104369743..104372595-chr5:104912590..104914639,2 | K562 | blood: | |
5 | chr5:104370391..104371902-chr5:104374539..104376562,2 | K562 | blood: | |
6 | chr5:104369671..104371200-chr5:104727235..104729208,2 | K562 | blood: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000253584 | TF binding region |
ENSG00000251574 | chromatin interactions |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs551173771 | chr5:104369411-104369412 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs567724461 | chr5:104369424-104369425 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs80213085 | chr5:104369447-104369448 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs13168070 | chr5:104369455-104369456 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
5 | rs567169618 | chr5:104369459-104369460 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs539076977 | chr5:104369475-104369476 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs529169327 | chr5:104369491-104369492 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs558639915 | chr5:104369503-104369504 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs549198741 | chr5:104369506-104369507 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs575697070 | chr5:104369514-104369515 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs568940603 | chr5:104369547-104369548 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs544354833 | chr5:104369582-104369583 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs557137686 | chr5:104369592-104369593 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs369630905 | chr5:104369605-104369606 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs370273956 | chr5:104369717-104369718 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
16 | rs573791045 | chr5:104369739-104369740 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
17 | rs34567596 | chr5:104369804-104369805 | Enhancers Flanking Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
18 | rs542393671 | chr5:104369836-104369837 | Enhancers Flanking Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
19 | rs7709488 | chr5:104369901-104369902 | Enhancers Flanking Active TSS | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
20 | rs528326636 | chr5:104369906-104369907 | Enhancers Flanking Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
21 | rs544604571 | chr5:104369921-104369922 | Enhancers Flanking Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
22 | rs564695647 | chr5:104369937-104369938 | Enhancers Flanking Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
23 | rs62366393 | chr5:104369953-104369954 | Enhancers Flanking Active TSS | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
24 | rs550436959 | chr5:104369954-104369955 | Enhancers Flanking Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
25 | rs118109132 | chr5:104369955-104369956 | Enhancers Flanking Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
26 | rs530364091 | chr5:104369956-104369957 | Enhancers Flanking Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
27 | rs78189970 | chr5:104369965-104369966 | Enhancers Flanking Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
28 | rs571686307 | chr5:104369975-104369976 | Enhancers Flanking Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
29 | rs547207899 | chr5:104369990-104369991 | Enhancers Flanking Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
30 | rs567181919 | chr5:104369992-104369993 | Enhancers Flanking Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
31 | rs13185910 | chr5:104370015-104370016 | Enhancers Flanking Active TSS | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
32 | rs145869163 | chr5:104370027-104370028 | Enhancers Flanking Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
33 | rs531771058 | chr5:104370028-104370029 | Enhancers Flanking Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
34 | rs567997437 | chr5:104370124-104370125 | Enhancers Flanking Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
35 | rs569126214 | chr5:104370140-104370141 | Enhancers Flanking Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
36 | rs13168898 | chr5:104370141-104370142 | Enhancers Flanking Active TSS | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
37 | rs552575111 | chr5:104370157-104370158 | Enhancers Flanking Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
38 | rs574590942 | chr5:104370169-104370170 | Enhancers Flanking Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
39 | rs369789657 | chr5:104370184-104370185 | Enhancers Flanking Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
40 | rs542422121 | chr5:104370267-104370268 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
41 | rs552701931 | chr5:104370274-104370275 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
42 | rs62366394 | chr5:104370306-104370307 | Enhancers | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
43 | rs73777388 | chr5:104370319-104370320 | Enhancers | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
44 | rs565170705 | chr5:104370322-104370323 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
45 | rs12518114 | chr5:104370486-104370487 | Enhancers Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
46 | rs115934720 | chr5:104370516-104370517 | Enhancers Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
47 | rs12518136 | chr5:104370570-104370571 | Enhancers Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
48 | rs560862111 | chr5:104370605-104370606 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
49 | rs529774703 | chr5:104370607-104370608 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
50 | rs547219910 | chr5:104370638-104370639 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Metanephric adenoma | 20802469 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 21080181 | 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 |
Cancer | 20164919 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Cancer | 16751803 | CNVD |
Intellectual disability | 22102821 | CNVD |
Breast cancer | 17603634 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Melanoma | 18172304 | CNVD |
Glioma | 20126413 | CNVD |
Breast cancer | 17393978 | CNVD |
Cancer | 21359685 | CNVD |
Non-small cell lung cancer | 21829676 | CNVD |
adenomatous polyposis | 22470819 | CNVD |
Cancer | 22429812 | CNVD |
Cancer | 21637783 | CNVD |
Colorectal cancer | 20709793 | CNVD |
Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
Liposarcoma | 21253554 | CNVD |
Acute lymphoblastic leukemia | 21390130 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Breast cancer | 21264507 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Glioblastoma multiforme | 17387387 | CNVD |
Breast cancer | 21858162 | CNVD |
Leukemia | 17361228 | CNVD |
Myelodysplastic syndrome | 18508791 | CNVD |
5q-syndrome | 17576883 | CNVD |
Gastric cancer | 17908304 | CNVD |
Lung cancer | 16740712 | CNVD |
Oral squamous cell carcinoma | 17134496 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Esophageal adenocarcinoma | 19417022 | CNVD |
Barrett''s syndrome | 19417022 | CNVD |
Lung cancer | 18438408 | CNVD |
Retinoblastoma | 22278416 | CNVD |
Bipolar disorder | 18458673 | CNVD |
Thyroid cancer | 19087340 | CNVD |
Breast cancer | 21785460 | CNVD |
Squamous cell cancer | 20885788 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Neurodevelopmental disorder | 22521361 | CNVD |
Prostate cancer | 18632612 | CNVD |
Breast cancer | 17133270 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Prostate cancer | 16573809 | CNVD |
Renal cell carcinoma | 18194544 | CNVD |
Chronic lymphocytic leukemia | 20421269 | CNVD |
Cancer | 20164920 | CNVD |
Myelodysplastic syndrome | 21251322 | CNVD |
abnormal development | 18461090 | CNVD |
Colorectal cancer | 16774939 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Acute lymphoblastic leukemia | 21339820 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Hodgkin''s lymphoma | 18641027 | CNVD |
Multiple myeloma | 17550852 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Chronic lymphocytic leukemia | 18922857 | CNVD |
Ovarian cancer | 21720365 | CNVD |
Neurocytoma | 17123091 | CNVD |
Salivary gland tumor | 18059337 | CNVD |
Breast cancer | 21509527 | CNVD |
Breast cancer | 16608533 | CNVD |
Obesity | 20622171 | CNVD |
Schizophrenia | 21346763 | CNVD |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr5:104369400-104369800 | Enhancers | K562 | blood |
2 | chr5:104369400-104370000 | Enhancers | Fetal Adrenal Gland | Adrenal Gland |
3 | chr5:104369400-104370200 | Enhancers | Pancreatic Islets | Pancreatic Islet |
4 | chr5:104369800-104370200 | Flanking Active TSS | K562 | blood |
5 | chr5:104370200-104370400 | Enhancers | K562 | blood |
6 | chr5:104370200-104370600 | Enhancers | Hela-S3 | cervix |
7 | chr5:104370400-104371600 | Weak transcription | K562 | blood |
8 | chr5:104376200-104376600 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
9 | chr5:104380200-104380600 | Enhancers | Fetal Brain Male | brain |
10 | chr5:104388000-104392400 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
11 | chr5:104389600-104390600 | Enhancers | Fetal Lung | lung |
12 | chr5:104390200-104390800 | Active TSS | Fetal Brain Male | brain |
13 | chr5:104392400-104393200 | ZNF genes & repeats | Esophagus | oesophagus |
14 | chr5:104392400-104394000 | ZNF genes & repeats | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
15 | chr5:104392400-104394000 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
16 | chr5:104392400-104394000 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |
17 | chr5:104398800-104402000 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |