Variant report
| Variant | esv3434853 |
|---|---|
| Chromosome Location | chr11:63190476-63195774 |
| 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:29 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs568416806 | chr11:63195412-63195413 | Enhancers ZNF genes & repeats Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs190610497 | chr11:63195434-63195435 | Enhancers ZNF genes & repeats Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs183377526 | chr11:63195437-63195438 | Enhancers ZNF genes & repeats Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs189231559 | chr11:63195444-63195445 | Enhancers ZNF genes & repeats Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs113922743 | chr11:63195454-63195455 | Enhancers ZNF genes & repeats Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs558714165 | chr11:63195468-63195469 | Enhancers ZNF genes & repeats Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs61928043 | chr11:63195482-63195483 | Enhancers ZNF genes & repeats Bivalent Enhancer | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 8 | rs541088509 | chr11:63195493-63195494 | Enhancers ZNF genes & repeats Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs191962525 | chr11:63195500-63195501 | Enhancers ZNF genes & repeats Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs529550569 | chr11:63195501-63195502 | Enhancers ZNF genes & repeats Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs61928044 | chr11:63195517-63195518 | Enhancers ZNF genes & repeats Bivalent Enhancer | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 12 | rs145632413 | chr11:63195567-63195568 | Enhancers ZNF genes & repeats Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs546939585 | chr11:63195568-63195569 | Enhancers ZNF genes & repeats Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs545969691 | chr11:63195604-63195605 | Enhancers ZNF genes & repeats Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs138503411 | chr11:63195611-63195612 | Enhancers ZNF genes & repeats Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs528597466 | chr11:63195623-63195624 | Enhancers ZNF genes & repeats Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs548619178 | chr11:63195626-63195627 | Enhancers ZNF genes & repeats Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs183872758 | chr11:63195644-63195645 | Enhancers ZNF genes & repeats Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs186820748 | chr11:63195668-63195669 | Enhancers ZNF genes & repeats Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs116420411 | chr11:63195677-63195678 | Enhancers ZNF genes & repeats Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs569943960 | chr11:63195680-63195681 | Enhancers ZNF genes & repeats Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs75047887 | chr11:63195682-63195683 | Enhancers ZNF genes & repeats Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs538871846 | chr11:63195700-63195701 | Enhancers ZNF genes & repeats Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs681291 | chr11:63195732-63195733 | Enhancers ZNF genes & repeats Bivalent Enhancer | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 25 | rs552427847 | chr11:63195741-63195742 | Enhancers ZNF genes & repeats Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs143040857 | chr11:63195747-63195748 | Enhancers ZNF genes & repeats Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs114157990 | chr11:63195754-63195755 | Enhancers ZNF genes & repeats Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs559345638 | chr11:63195762-63195763 | Enhancers ZNF genes & repeats Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs191280682 | chr11:63195765-63195766 | Enhancers ZNF genes & repeats Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:74)
| Disease | PMID | Source |
|---|---|---|
| Medulloblastoma | 21979893 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Multiple myeloma | 20724749 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Autism | 22495311 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Non-small cell lung cancer | 21385341 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Glioblastoma multiforme | 21138945 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Cancer | 21637783 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Chronic lymphocytic leukemia | 21795749 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Neuroblastoma | 21484798 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 20837533 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Cervical cancer | 21063398 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Neuroblastoma | 18923524 | CNVD |
| Neuroblastoma | 18664255 | CNVD |
| Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
| Multiple myeloma | 17077331 | CNVD |
| Neuroblastoma | 17533364 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Esophageal squamous carcinoma | 18350619 | CNVD |
| Pituitary adenoma | 18645599 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Smith-Lemli-Opitz syndrome | 21572526 | CNVD |
| Multiple myeloma | 16461302 | CNVD |
| Cancer | 16751803 | CNVD |
| Seminomas | 18059402 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Chordoma | 21602918 | CNVD |
| Melanoma | 18172304 | CNVD |
| Chordoma | 18071362 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| ovarian endometriomas | 16273235 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Breast cancer | 20409316 | CNVD |
| Spinal muscular atrophy | 17160897 | CNVD |
| Retinitis pigmentosa | 17160897 | CNVD |
| Breast cancer | 16417655 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Primary central nervous system lymphoma | 21088137 | CNVD |
| Prostate cancer | 17217626 | CNVD |
| T-cell acute lymphoblastic leukemia | 19406988 | CNVD |
| Breast cancer | 21045282 | CNVD |
| Breast cancer | 21806811 | CNVD |
| Breast cancer | 22002566 | CNVD |
| Ductal carcinoma | 18381933 | CNVD |
| Retinoblastoma | 22278416 | CNVD |
| Breast cancer | 20953835 | CNVD |
| oto-dental syndrome | 17656375 | CNVD |
| Asthma | 21956041 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Ovarian neoplasms | 16753589 | CNVD |
| Non-small cell lung cancer | 20864512 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Cervical cancer | 21062161 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr11:63195400-63195800 | ZNF genes & repeats | HUES6 Cell Line | embryonic stem cell |
| 2 | chr11:63195400-63195800 | Bivalent Enhancer | Foreskin Keratinocyte Primary Cells skin02 | Skin |
| 3 | chr11:63195400-63196200 | Enhancers | H1 Cell Line | embryonic stem cell |
| 4 | chr11:63195600-63195800 | ZNF genes & repeats | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
| 5 | chr11:63195600-63195800 | Enhancers | H9 Cell Line | embryonic stem cell |
| 6 | chr11:63195600-63195800 | Enhancers | iPS DF 6.9 Cell Line | embryonic stem cell |
| 7 | chr11:63195600-63195800 | Enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |
