Variant report
| Variant | esv3361144 |
|---|---|
| Chromosome Location | chr18:44771138-44771578 |
| 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:14 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs561006405 | chr18:44771157-44771158 | Bivalent Enhancer Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs67918319 | chr18:44771159-44771160 | Bivalent Enhancer Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 3 | rs570461621 | chr18:44771173-44771174 | Bivalent Enhancer Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs369814820 | chr18:44771176-44771177 | Bivalent Enhancer Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs532904006 | chr18:44771189-44771190 | Bivalent Enhancer Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs185081406 | chr18:44771295-44771296 | Bivalent Enhancer Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs189508010 | chr18:44771300-44771301 | Bivalent Enhancer Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs535253171 | chr18:44771311-44771312 | Bivalent Enhancer Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs550746259 | chr18:44771346-44771347 | Bivalent Enhancer Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs537212800 | chr18:44771419-44771420 | Weak transcription Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs201348002 | chr18:44771420-44771421 | Weak transcription Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs199997306 | chr18:44771433-44771434 | Weak transcription Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs17723754 | chr18:44771481-44771482 | Weak transcription Bivalent Enhancer | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 14 | rs569107337 | chr18:44771530-44771531 | Weak transcription Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:88)
| Disease | PMID | Source |
|---|---|---|
| Follicular lymphoma | 20505157 | CNVD |
| Chordoma | 21602918 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Cancer | 21637783 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Splenic marginal zone lymphoma | 21957467 | CNVD |
| Trisomy 18 syndrome | 17576883 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Barrett''s syndrome | 19417022 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Melanoma | 18172304 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| 18q deletion syndrome | 19533772 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Colorectal cancer | 21102417 | CNVD |
| Colorectal cancer | 20709793 | CNVD |
| Pancreatic cancer | 21811562 | CNVD |
| Basal cell lymphoma | 21115979 | CNVD |
| Mucosa-associated lymphoid tissue lymphomas | 21459788 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Oligodendroglial tumors | 17285580 | CNVD |
| colon cancer | 17210682 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Autism | 16446308 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Human rectal carcinomas | 16397240 | CNVD |
| Medulloblastoma | 18056178 | CNVD |
| Gastrointestinal stromal cancer | 16982739 | CNVD |
| Cancer | 16751803 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| Colorectal cancer | 21297112 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Thyroid cancer | 19087340 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Colorectal cancer | 19150955 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Colorectal cancer | 16912164 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Seminomas | 18059402 | CNVD |
| Breast cancer | 16272173 | CNVD |
| Breast cancer | 17133270 | CNVD |
| prenatal diagnosis | 22389664 | CNVD |
| Medulloblastoma | 16783165 | CNVD |
| Neuroblastoma | 21508638 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Multiple myeloma | 16461302 | CNVD |
| Chronic lymphocytic leukemia | 21049055 | CNVD |
| Breast cancer | 16397240 | CNVD |
| Non-small cell lung cancer | 21829676 | CNVD |
| T-cell acute lymphoblastic leukemia | 19406988 | CNVD |
| Pilomyxoid astrocytoma | 17436254 | CNVD |
| Mental retardation | 21062444 | CNVD |
| Cancer | 21183584 | CNVD |
| Burkitt''s lymphoma | 18698080 | CNVD |
| Esophageal adenocarcinoma | 18519675 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Basal cell lymphoma | 19029149 | CNVD |
| Diffuse large b-cell lymphoma | 19029149 | CNVD |
| Cancer | 17160897 | CNVD |
| Congenital anomalies of the kidney and urinary tract | 20467480 | CNVD |
| Gastric cancer | 16891809 | CNVD |
| Idiopathic thrombocytopenic purpura | 19566914 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Basal cell lymphoma | 17170743 | CNVD |
| Follicular lymphoma | 17170743 | CNVD |
| Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
| Colorectal cancer | 16774939 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
| Lung cancer | 21569311 | CNVD |
| Prostate cancer | 22341455 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr18:44763400-44772400 | Weak transcription | H1 Cell Line | embryonic stem cell |
| 2 | chr18:44769200-44771200 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
| 3 | chr18:44769200-44772800 | Bivalent Enhancer | iPS-20b Cell Line | embryonic stem cell |
| 4 | chr18:44769800-44772600 | Bivalent Enhancer | HUES64 Cell Line | embryonic stem cell |
| 5 | chr18:44770400-44772600 | Bivalent Enhancer | HUES6 Cell Line | embryonic stem cell |
| 6 | chr18:44770600-44771400 | Bivalent Enhancer | ES-I3 Cell Line | embryonic stem cell |
| 7 | chr18:44770600-44772400 | Bivalent Enhancer | iPS-15b Cell Line | embryonic stem cell |
| 8 | chr18:44770600-44772600 | Bivalent Enhancer | HUES48 Cell Line | embryonic stem cell |
| 9 | chr18:44771000-44772200 | Weak transcription | H9 Cell Line | embryonic stem cell |
| 10 | chr18:44771200-44772000 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
| 11 | chr18:44771200-44772600 | Bivalent Enhancer | iPS-18 Cell Line | embryonic stem cell |
