Variant report
Variant | esv3370534 |
---|---|
Chromosome Location | chr4:187878858-187887256 |
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)
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No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs57299176 | chr4:187878934-187878935 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
2 | rs10017214 | chr4:187878939-187878940 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
3 | rs376308237 | chr4:187878959-187878960 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs571981236 | chr4:187878968-187878969 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs147985252 | chr4:187878980-187878981 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs570925982 | chr4:187879049-187879050 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs533262423 | chr4:187879063-187879064 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs550390211 | chr4:187879081-187879082 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs6825289 | chr4:187879109-187879110 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
10 | rs114364277 | chr4:187879125-187879126 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs73873980 | chr4:187879144-187879145 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
12 | rs59020416 | chr4:187879152-187879153 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs534618595 | chr4:187879178-187879179 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs184529861 | chr4:187879192-187879193 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs36135290 | chr4:187879201-187879202 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs377533144 | chr4:187879217-187879218 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs560348701 | chr4:187879243-187879244 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs189626411 | chr4:187879258-187879259 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs386683596 | chr4:187879265-187879266 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs369691793 | chr4:187879288-187879289 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs369976335 | chr4:187879298-187879299 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs66533756 | chr4:187879319-187879320 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs542602989 | chr4:187879386-187879387 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs372032971 | chr4:187879390-187879391 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs192479375 | chr4:187879492-187879493 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs374430049 | chr4:187879512-187879513 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs147173364 | chr4:187879539-187879540 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs375985935 | chr4:187879576-187879577 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs183895808 | chr4:187879577-187879578 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs114172138 | chr4:187879613-187879614 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs77407136 | chr4:187879635-187879636 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs71607928 | chr4:187879650-187879651 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs542810582 | chr4:187879651-187879652 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs144033136 | chr4:187879658-187879659 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs528349879 | chr4:187879666-187879667 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs370813416 | chr4:187879679-187879680 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs113586239 | chr4:187879684-187879685 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
38 | rs375249979 | chr4:187879704-187879705 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
39 | rs531670754 | chr4:187879718-187879719 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
40 | rs541460402 | chr4:187879738-187879739 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
41 | rs181335650 | chr4:187879765-187879766 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
42 | rs7695973 | chr4:187879767-187879768 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
43 | rs544772611 | chr4:187879773-187879774 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
44 | rs565249470 | chr4:187879781-187879782 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
45 | rs114111250 | chr4:187879800-187879801 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
46 | rs11424766 | chr4:187879836-187879837 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
47 | rs11432720 | chr4:187879850-187879851 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
48 | rs147298939 | chr4:187879863-187879864 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
49 | rs549985166 | chr4:187879887-187879888 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
50 | rs114791415 | chr4:187879901-187879902 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
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 |
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 |
Acute lymphoblastic leukemia | 20067559 | 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 |
Breast cancer | 16608533 | CNVD |
Wilms tumour | 21544195 | CNVD |
Lung cancer | 18438408 | CNVD |
Cancer | 22429812 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Breast cancer | 16272173 | CNVD |
Breast cancer | 17133270 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Congenital anomalies of the kidney and urinary tract | 20505237 | CNVD |
Testicular germ cell tumor | 18059402 | CNVD |
Ovarian cancer | 22174824 | CNVD |
Olfactory neuroblastoma | 18408657 | CNVD |
Breast cancer | 21785460 | CNVD |
Hodgkin''s lymphoma | 18641027 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
small cell lung cancer | 20016488 | CNVD |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Breast cancer | 21633010 | CNVD |
Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Cancer | 20581869 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
abnormal development | 18461090 | CNVD |
Neuroblastoma | 16790693 | CNVD |
Colorectal cancer | 16774939 | CNVD |
Congenital anomalies of the kidney and urinary tract | 18316590 | CNVD |
Basal cell lymphoma | 17053054 | CNVD |
Facioscapulohumeral muscular dystrophy | 21829175 | CNVD |
Disorders of sex development | 21048976 | CNVD |
Ovarian cancer | 20844748 | CNVD |
Autism | 18414403 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Cancer | 20164920 | CNVD |
Cancer | 20164919 | CNVD |
Breast cancer | 20409316 | CNVD |
Rhabdomyosarcoma | 16790082 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Schizophrenia | 21399695 | CNVD |
Developmental delay | 22127048 | CNVD |
Acute lymphoblastic leukemia | 21098271 | CNVD |
Cervical cancer | 21063398 | CNVD |
Oral cancer | 21386901 | CNVD |
Breast cancer | 22522925 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr4:187868400-187880800 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
2 | chr4:187875400-187879000 | Weak transcription | HMEC | breast |
3 | chr4:187875400-187879200 | Weak transcription | Osteobl | bone |
4 | chr4:187875600-187879200 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
5 | chr4:187876400-187879400 | Weak transcription | Breast Myoepithelial Primary Cells | Breast |
6 | chr4:187878000-187879800 | Enhancers | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
7 | chr4:187878000-187879800 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
8 | chr4:187878600-187880200 | Enhancers | Foreskin Keratinocyte Primary Cells skin03 | Skin |
9 | chr4:187879000-187880200 | Enhancers | HMEC | breast |
10 | chr4:187879200-187879800 | Enhancers | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
11 | chr4:187879200-187879800 | Enhancers | Osteobl | bone |
12 | chr4:187879200-187880200 | Enhancers | NHEK | skin |
13 | chr4:187879400-187879800 | Enhancers | NH-A | brain |
14 | chr4:187879400-187880000 | Enhancers | Foreskin Keratinocyte Primary Cells skin02 | Skin |
15 | chr4:187879400-187880400 | Enhancers | Breast Myoepithelial Primary Cells | Breast |
16 | chr4:187880000-187880400 | Enhancers | IMR90 fetal lung fibroblasts Cell Line | lung |
17 | chr4:187880200-187880400 | Bivalent Enhancer | NHEK | skin |