Variant report
| Variant | esv3370507 |
|---|---|
| Chromosome Location | chr4:118589326-118603104 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:50 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs35444073 | chr4:118595037-118595038 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs144129216 | chr4:118595046-118595047 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs542892695 | chr4:118595065-118595066 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs556397471 | chr4:118595073-118595074 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs570229879 | chr4:118595074-118595075 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs370592873 | chr4:118595105-118595106 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs558475595 | chr4:118595106-118595107 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs538988845 | chr4:118595108-118595109 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs558785298 | chr4:118595109-118595110 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs570914515 | chr4:118595120-118595121 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs533516702 | chr4:118595131-118595132 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs575258743 | chr4:118595189-118595190 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs553846014 | chr4:118595229-118595230 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs573687558 | chr4:118595239-118595240 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs542684792 | chr4:118595272-118595273 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs111984503 | chr4:118595283-118595284 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs147239541 | chr4:118595289-118595290 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs545329289 | chr4:118595297-118595298 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs576565780 | chr4:118595322-118595323 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs565126691 | chr4:118595361-118595362 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs527705094 | chr4:118595373-118595374 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs541103499 | chr4:118595380-118595381 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs11562853 | chr4:118595398-118595399 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs554462351 | chr4:118600200-118600201 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs183858201 | chr4:118600201-118600202 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs149663558 | chr4:118600250-118600251 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs2892756 | chr4:118600261-118600262 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 28 | rs574856009 | chr4:118600263-118600264 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs543907415 | chr4:118600264-118600265 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs563680997 | chr4:118600268-118600269 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs9995563 | chr4:118600272-118600273 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 32 | rs577785411 | chr4:118600303-118600304 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs540089747 | chr4:118600342-118600343 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs187048741 | chr4:118600377-118600378 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs529221068 | chr4:118600392-118600393 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs2389385 | chr4:118600402-118600403 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 37 | rs192812866 | chr4:118600410-118600411 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs79379613 | chr4:118600431-118600432 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs111666538 | chr4:118600436-118600437 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs571732965 | chr4:118600464-118600465 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs190357114 | chr4:118600479-118600480 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs182546177 | chr4:118600539-118600540 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs547698917 | chr4:118600544-118600545 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs183714313 | chr4:118600548-118600549 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs536556086 | chr4:118600558-118600559 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs556396131 | chr4:118600563-118600564 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs188162178 | chr4:118600574-118600575 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs113866737 | chr4:118600593-118600594 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs201152984 | chr4:118600595-118600596 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs398107897 | chr4:118600596-118600597 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:72)
| Disease | PMID | Source |
|---|---|---|
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Chordoma | 21602918 | CNVD |
| HIV/AIDS | 22032296 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Autism | 22495311 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Small bowel adenocarcinoma | 21586687 | CNVD |
| Gastric cancer | 21586687 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Melanoma | 18172304 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Esophageal squamous carcinoma | 18350619 | CNVD |
| Breast cancer | 16272173 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Malignant mesothelioma | 18160781 | CNVD |
| Medulloblastoma | 18056178 | CNVD |
| Multiple myeloma | 17077331 | CNVD |
| Pleural malignant mesothelioma | 18160781 | CNVD |
| Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| 4q-syndrome | 17576883 | CNVD |
| Cancer | 21637783 | CNVD |
| Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
| Colorectal cancer | 20709793 | CNVD |
| Muscular dystrophy | 21149563 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| Hepatocellular carcinoma | 22174799 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Oligodendroglial tumors | 17285580 | CNVD |
| Cervical cancer | 21062161 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Adenoid cystic carcinoma | 18698036 | CNVD |
| Lung cancer | 19208797 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Myelodysplastic syndrome | 21251322 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Cancer | 22429812 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Cancer | 21183584 | CNVD |
| primary effusion lymphomas | 17116491 | CNVD |
| Splenic marginal zone lymphoma | 21957467 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Colorectal cancer | 20459617 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Congenital anomalies of the kidney and urinary tract | 20505237 | CNVD |
| Breast cancer | 17393978 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Testicular germ cell tumor | 18059402 | CNVD |
| Ovarian cancer | 22174824 | CNVD |
| Cutaneous T-cell lymphoma | 21881587 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Neuroblastoma | 21899760 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Renal cell carcinoma | 18194544 | CNVD |
| Autism | 19246517 | CNVD |
| Schizophrenia | 23813976 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr4:118595000-118595400 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
| 2 | chr4:118600200-118600400 | Enhancers | HUES48 Cell Line | embryonic stem cell |
| 3 | chr4:118600200-118600600 | Enhancers | H9 Cell Line | embryonic stem cell |
| 4 | chr4:118600200-118600600 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
| 5 | chr4:118600200-118600600 | Enhancers | iPS DF 6.9 Cell Line | embryonic stem cell |
| 6 | chr4:118600200-118600600 | Enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |
