Variant report
| Variant | nsv523143 |
|---|---|
| Chromosome Location | chr13:89416497-89425142 |
| 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:35 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs9301495 | chr13:89416497-89416498 | Enhancers Flanking Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 2 | rs373533967 | chr13:89416519-89416520 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs556279828 | chr13:89416555-89416556 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs142605346 | chr13:89416597-89416598 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs184851628 | chr13:89416603-89416604 | Enhancers Bivalent Enhancer Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs189317702 | chr13:89416649-89416650 | Enhancers Bivalent Enhancer Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs116263972 | chr13:89416661-89416662 | Enhancers Bivalent Enhancer Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs181568212 | chr13:89416668-89416669 | Enhancers Bivalent Enhancer Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs186824330 | chr13:89416669-89416670 | Enhancers Bivalent Enhancer Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs146003004 | chr13:89416674-89416675 | Enhancers Bivalent Enhancer Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs4144008 | chr13:89416713-89416714 | Enhancers Bivalent Enhancer Flanking Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 12 | rs567253427 | chr13:89416754-89416755 | Enhancers Bivalent Enhancer Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs12876696 | chr13:89416763-89416764 | Enhancers Bivalent Enhancer Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs12877724 | chr13:89416766-89416767 | Enhancers Bivalent Enhancer Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs528234957 | chr13:89416770-89416771 | Enhancers Bivalent Enhancer Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs546713839 | chr13:89416808-89416809 | Enhancers Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs139947420 | chr13:89416812-89416813 | Enhancers Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs538464669 | chr13:89416821-89416822 | Enhancers Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs557084510 | chr13:89416854-89416855 | Enhancers Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs569079250 | chr13:89416855-89416856 | Enhancers Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs149751666 | chr13:89416863-89416864 | Enhancers Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs574892717 | chr13:89416867-89416868 | Enhancers Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs189645697 | chr13:89416885-89416886 | Enhancers Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs576334418 | chr13:89416895-89416896 | Enhancers Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs573690163 | chr13:89416978-89416979 | Enhancers Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs554609704 | chr13:89416986-89416987 | Enhancers Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs374436411 | chr13:89417024-89417025 | Enhancers Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs145692346 | chr13:89417045-89417046 | Enhancers Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs578018470 | chr13:89417071-89417072 | Enhancers Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs545292453 | chr13:89417078-89417079 | Enhancers Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs563881969 | chr13:89417079-89417080 | Enhancers Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs531141225 | chr13:89417093-89417094 | Enhancers Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs543332965 | chr13:89417096-89417097 | Enhancers Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs374087174 | chr13:89417102-89417103 | Enhancers Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs181177372 | chr13:89417157-89417158 | Enhancers Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:83)
| Disease | PMID | Source |
|---|---|---|
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| HIV/AIDS | 22032296 | CNVD |
| Prostate cancer | 16705090 | CNVD |
| High-proliferative meningiomas | 17937814 | CNVD |
| Cancer | 20164919 | CNVD |
| Autism | 22495311 | CNVD |
| Chordoma | 21602918 | CNVD |
| Bladder cancer | 21949216 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Burkitt''s lymphoma | 18698080 | CNVD |
| Cancer | 21637783 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Chronic lymphocytic leukemia | 21518781 | CNVD |
| colon cancer | 17210682 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Colorectal cancer | 20709793 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| Hepatocellular carcinoma | 22174799 | CNVD |
| Ovarian cancer | 20844748 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Intracranial aneurysm | 19064780 | CNVD |
| Breast cancer | 19287154 | CNVD |
| Acute myeloid leukemia | 18379011 | CNVD |
| Human rectal carcinomas | 16397240 | CNVD |
| Olfactory neuroblastoma | 18408657 | CNVD |
| Multiple myeloma | 17077331 | CNVD |
| Ependymoma | 16718352 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Gastrointestinal stromal cancer | 16982739 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Ovarian cancer | 22174824 | CNVD |
| Myoepithelioma | 18604193 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Small bowel adenocarcinoma | 21586687 | CNVD |
| Developmental delay | 21147756 | CNVD |
| Melanoma | 18172304 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Non-syndromic sensorineural hearing loss | 18496225 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Splenic marginal zone lymphoma | 18492102 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Acute promyelocytic leukemia | 19109227 | CNVD |
| Chronic lymphocytic leukemia | 20421269 | CNVD |
| Acute lymphoblastic leukemia | 21980252 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| abnormal development | 18461090 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Non-syndromic sensorineural hearing loss | 20606397 | CNVD |
| Congenital anomalies of the kidney and urinary tract | 18316590 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Prostate cancer | 21965145 | CNVD |
| Gastrointestinal stromal cancer | 20818650 | CNVD |
| Cancer | 21220470 | CNVD |
| Cancer | 21183584 | CNVD |
| Omodysplasia | 19481194 | CNVD |
| Breast cancer | 22032731 | CNVD |
| Mantle cell lymphoma | 19690137 | CNVD |
| Rhabdomyosarcoma | 17210683 | CNVD |
| Ovarian clear cell carcinoma | 21343371 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Mental retardation | 17847001 | CNVD |
| Medulloblastoma | 19270706 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| coloboma | 21285886 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr13:89415800-89416600 | Enhancers | HUES64 Cell Line | embryonic stem cell |
| 2 | chr13:89415800-89416600 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
| 3 | chr13:89415800-89417200 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
| 4 | chr13:89416000-89416800 | Enhancers | HUES48 Cell Line | embryonic stem cell |
| 5 | chr13:89416000-89417200 | Enhancers | HUES6 Cell Line | embryonic stem cell |
| 6 | chr13:89416200-89417000 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
| 7 | chr13:89416400-89416800 | Flanking Active TSS | iPS-18 Cell Line | embryonic stem cell |
| 8 | chr13:89416600-89417000 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
| 9 | chr13:89416600-89417200 | Bivalent Enhancer | HUES64 Cell Line | embryonic stem cell |
| 10 | chr13:89416800-89417200 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
