Variant report
Variant | esv3693002 |
---|---|
Chromosome Location | chr1:184961635-184967014 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:15)
- CpG islands (count:0)
- Chromatin interactive region (count:7)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:15 , 50 per page) page:
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No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | CBX3 | chr1:184963290-184963819 | K562 | blood: | n/a | n/a |
2 | CBX3 | chr1:184963464-184963813 | K562 | blood: | n/a | n/a |
3 | E2F4 | chr1:184965280-184965286 | MCF10A-Er-Src | breast: | n/a | n/a |
4 | JUND | chr1:184963255-184963443 | HepG2 | liver: | n/a | chr1:184963296-184963307 |
5 | KAP1 | chr1:184966359-184966843 | K562 | blood: | n/a | n/a |
6 | KAP1 | chr1:184963280-184964045 | K562 | blood: | n/a | n/a |
7 | MYC | chr1:184963152-184963166 | MCF10A-Er-Src | breast: | n/a | n/a |
8 | POLR2A | chr1:184964559-184964562 | MCF-7 | breast: | n/a | n/a |
9 | POLR2A | chr1:184964564-184964566 | MCF-7 | breast: | n/a | n/a |
10 | POLR2A | chr1:184965310-184965597 | SK-N-MC | brain: | n/a | n/a |
11 | POLR2A | chr1:184964675-184965122 | SK-N-MC | brain: | n/a | n/a |
12 | SETDB1 | chr1:184963318-184963871 | U2OS | brain: | n/a | n/a |
13 | STAT3 | chr1:184961668-184961865 | MCF10A-Er-Src | breast: | n/a | chr1:184961710-184961722 |
14 | STAT3 | chr1:184963417-184963425 | MCF10A-Er-Src | breast: | n/a | n/a |
15 | ZNF143 | chr1:184963509-184963771 | K562 | blood: | n/a | n/a |
No data |
(count:7 , 50 per page) page:
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr1:184960231..184961946-chr1:184965528..184968520,2 | K562 | blood: | |
2 | chr1:184953868..184955710-chr1:184959365..184963156,3 | K562 | blood: | |
3 | chr1:184962088..184965076-chr1:184966830..184968567,2 | K562 | blood: | |
4 | chr1:184957906..184960933-chr1:184961272..184965478,3 | K562 | blood: | |
5 | chr1:184962088..184965076-chr1:184966830..184968567,2 | K562 | blood: | |
6 | chr1:184960231..184961946-chr1:184965528..184968520,2 | K562 | blood: | |
7 | chr1:184962805..184965114-chr1:185013603..185016018,2 | MCF-7 | breast: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000260976 | TF binding region |
ENSG00000121481 | chromatin interactions |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs7354848 | chr1:184961635-184961636 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
2 | rs79421048 | chr1:184961655-184961656 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs540378358 | chr1:184961674-184961675 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs552050234 | chr1:184961707-184961708 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs367678921 | chr1:184961708-184961709 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs538902843 | chr1:184961720-184961721 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs200226189 | chr1:184961765-184961766 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs12117614 | chr1:184961784-184961785 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs12029679 | chr1:184961804-184961805 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
10 | rs529704297 | chr1:184961811-184961812 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs567258135 | chr1:184961854-184961855 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs528335968 | chr1:184961855-184961856 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs546866818 | chr1:184961860-184961861 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs571499456 | chr1:184961922-184961923 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs78725922 | chr1:184961976-184961977 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs572631031 | chr1:184962011-184962012 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs563163959 | chr1:184962050-184962051 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs530508623 | chr1:184962098-184962099 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs113727354 | chr1:184962116-184962117 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs78990203 | chr1:184962122-184962123 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs555425453 | chr1:184962138-184962139 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs148028495 | chr1:184962177-184962178 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs577302159 | chr1:184962861-184962862 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
24 | rs79190637 | chr1:184962896-184962897 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
25 | rs76674681 | chr1:184962912-184962913 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
26 | rs12023631 | chr1:184962926-184962927 | Inactive region | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
27 | rs567699691 | chr1:184962951-184962952 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
28 | rs183512012 | chr1:184963022-184963023 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
29 | rs28559836 | chr1:184963056-184963057 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
30 | rs117150863 | chr1:184963057-184963058 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
31 | rs569193251 | chr1:184963104-184963105 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
32 | rs527515297 | chr1:184963143-184963144 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
33 | rs188293279 | chr1:184963154-184963155 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
34 | rs532744926 | chr1:184963156-184963157 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
35 | rs539815024 | chr1:184963165-184963166 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
36 | rs140056093 | chr1:184963174-184963175 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
37 | rs557550379 | chr1:184963191-184963192 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
38 | rs575900978 | chr1:184963200-184963201 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
39 | rs542900344 | chr1:184963227-184963228 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
40 | rs143596560 | chr1:184963288-184963289 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
41 | rs528210636 | chr1:184963311-184963312 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
42 | rs35772178 | chr1:184963312-184963313 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
43 | rs373765213 | chr1:184963453-184963454 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
44 | rs112568764 | chr1:184963482-184963483 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
45 | rs192406225 | chr1:184963486-184963487 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
46 | rs12134511 | chr1:184963521-184963522 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
47 | rs550469077 | chr1:184963524-184963525 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
48 | rs185869555 | chr1:184963587-184963588 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
49 | rs189948484 | chr1:184963612-184963613 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
50 | rs548112340 | chr1:184963619-184963620 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Breast cancer | 17603634 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
HIV/AIDS | 22032296 | CNVD |
Schizophrenia | 19415332 | CNVD |
Autism | 22495311 | CNVD |
Liposarcoma | 21253554 | CNVD |
Burkitt''s lymphoma | 18698080 | CNVD |
Melanoma | 18172304 | CNVD |
Rett syndrome | 21593744 | CNVD |
Cancer | 20164919 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Acute lymphoblastic leukemia | 17443227 | CNVD |
Wilms tumour | 21544195 | CNVD |
Breast cancer | 17133270 | CNVD |
Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
Non-small cell lung cancer | 21044232 | CNVD |
Cervical cancer | 21063398 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Astrocytoma | 17387387 | CNVD |
Breast cancer | 20632083 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Gastrointestinal stromal cancer | 20470368 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Medulloblastoma | 21292688 | CNVD |
Phyllodes tumor | 17334353 | CNVD |
Breast cancer | 21264507 | CNVD |
Multiple myeloma | 21628407 | CNVD |
Cancer | 16751803 | CNVD |
Prostate cancer | 16705090 | CNVD |
Neuroblastoma | 19435921 | CNVD |
Breast cancer | 17850661 | CNVD |
Breast cancer | 16461572 | CNVD |
Intracranial tumor | 16823260 | CNVD |
Medulloblastoma | 18056178 | CNVD |
Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Acute lymphoblastic leukemia | 21098271 | CNVD |
Neuroblastoma | 21899760 | CNVD |
Bladder cancer | 19088036 | CNVD |
Ovarian neoplasms | 16753589 | CNVD |
Glioblastoma multiforme | 17002787 | CNVD |
Breast cancer | 21858162 | CNVD |
Non-small cell lung cancer | 21385341 | CNVD |
Acute lymphoblastic leukemia | 21980252 | CNVD |
Breast cancer | 16608533 | CNVD |
Ewing''s sarcoma | 22429812 | CNVD |
Acute promyelocytic leukemia | 19109227 | CNVD |
Hepatocellular carcinoma | 18803288 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Breast cancer | 17001317 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
Multiple myeloma | 17550852 | CNVD |
Prostate cancer | 18632612 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Testicular germ cell tumor | 18059402 | CNVD |
Trisomy 5 syndrome | 21098271 | CNVD |
Ependymoma | 18628472 | CNVD |
Leukemia | 18628472 | CNVD |
Neuroblastoma | 18923191 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Acute lymphoblastic leukemia | 19100363 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Lung cancer | 18438408 | CNVD |
Breast cancer | 21509527 | CNVD |
Glioblastoma multiforme | 17369134 | CNVD |
Cancer | 17440070 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Renal cell carcinoma | 18765545 | CNVD |
Nephroblastoma | 17189400 | CNVD |
Melanoma | 20688739 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Breast cancer | 21611746 | CNVD |
Myelofibrosis | 22110671 | CNVD |
primary effusion lymphomas | 17116491 | CNVD |
Breast cancer | 17393978 | CNVD |
Barrett''s syndrome | 19417022 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr1:184960000-184961800 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
2 | chr1:184961200-184962000 | Enhancers | Foreskin Keratinocyte Primary Cells skin02 | Skin |
3 | chr1:184961200-184962000 | Enhancers | NHEK | skin |
4 | chr1:184961200-184962200 | Enhancers | Foreskin Keratinocyte Primary Cells skin03 | Skin |
5 | chr1:184961400-184962000 | Enhancers | HMEC | breast |
6 | chr1:184961800-184962200 | Enhancers | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
7 | chr1:184963800-184964600 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
8 | chr1:184963800-184964600 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
9 | chr1:184964000-184964400 | Enhancers | HUES48 Cell Line | embryonic stem cell |
10 | chr1:184964000-184964600 | Enhancers | HUES64 Cell Line | embryonic stem cell |
11 | chr1:184964200-184964600 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
12 | chr1:184964200-184964800 | Enhancers | H1 Cell Line | embryonic stem cell |
13 | chr1:184964400-184965000 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
14 | chr1:184964600-184965200 | Enhancers | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
15 | chr1:184965600-184966200 | Enhancers | Pancreatic Islets | Pancreatic Islet |