Variant report
Variant | esv3452112 |
---|---|
Chromosome Location | chr11:65723223-65723584 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr11:65711625..65713859-chr11:65721038..65723280,2 | K562 | blood: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000175513 | chromatin interactions |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs192320306 | chr11:65723241-65723242 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
2 | rs11227363 | chr11:65723319-65723320 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
3 | rs148635876 | chr11:65723382-65723383 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs535665277 | chr11:65723407-65723408 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs573278448 | chr11:65723451-65723452 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs200800542 | chr11:65723468-65723469 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs542149068 | chr11:65723477-65723478 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs114886658 | chr11:65723481-65723482 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs369418509 | chr11:65723482-65723483 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs555798914 | chr11:65723510-65723511 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs538513442 | chr11:65723519-65723520 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs377315607 | chr11:65723520-65723521 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs142132512 | chr11:65723565-65723566 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs113000751 | chr11:65723572-65723573 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
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 |
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 | 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 | 21509527 | CNVD |
Anaplastic thyroid cancer | 18753363 | CNVD |
Prostate cancer | 18779856 | CNVD |
Cancer | 17160897 | CNVD |
Breast cancer | 17001317 | CNVD |
Oral squamous cell carcinoma | 16619035 | CNVD |
Intracranial aneurysm | 16715129 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
Esophageal adenocarcinoma | 18820669 | CNVD |
Colorectal cancer | 16882699 | CNVD |
Berardinelli-seip congenital generalized lipodystrophy | 17668395 | CNVD |
Spinal muscular atrophy | 17668395 | CNVD |
Neonatal seizures | 17668395 | CNVD |
Neonatal seizures | 17668391 | CNVD |
Neuroticism | 17667963 | CNVD |
Cancer | 17916600 | CNVD |
Squamous cell cancer | 19047905 | CNVD |
Multiple endocrine neoplasia type 1 | 19566914 | CNVD |
XY sex reversal | 17503084 | CNVD |
Berardinelli-seip congenital generalized lipodystrophy | 17668391 | CNVD |
Maculopathy | 17646752 | CNVD |
Breast cancer | 17899364 | CNVD |
Breast cancer | 17157792 | CNVD |
Esophageal squamous carcinoma | 18350619 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Cancer | 20164919 | CNVD |
Hodgkin''s lymphoma | 18641027 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Breast cancer | 22522925 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr11:65709200-65726000 | Weak transcription | Foreskin Melanocyte Primary Cells skin01 | Skin |
2 | chr11:65714000-65728400 | Weak transcription | H9 Derived Neuron Cultured Cells | ES cell derived |
3 | chr11:65714400-65728400 | Weak transcription | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
4 | chr11:65715400-65726000 | Weak transcription | H1 Cell Line | embryonic stem cell |
5 | chr11:65715400-65726200 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
6 | chr11:65715400-65728400 | Weak transcription | iPS DF 6.9 Cell Line | embryonic stem cell |
7 | chr11:65720200-65728200 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
8 | chr11:65720800-65723400 | Weak transcription | HepG2 | liver |
9 | chr11:65721400-65726000 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
10 | chr11:65722800-65728200 | Weak transcription | NHEK | skin |
11 | chr11:65722800-65728400 | Weak transcription | Foreskin Keratinocyte Primary Cells skin03 | Skin |
12 | chr11:65723200-65724200 | Enhancers | Primary T helper cells PMA-I stimulated | -- |
13 | chr11:65723400-65723600 | Enhancers | HepG2 | liver |
14 | chr11:65723400-65724200 | Enhancers | Primary T cells fromperipheralblood | blood |