Variant report
| Variant | esv2340327 |
|---|---|
| Chromosome Location | chr2:209451536-209452239 |
| 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 |
(count:1 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr2:209436667..209438687-chr2:209450893..209452499,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page:
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs549879175 | chr2:209451560-209451561 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs569655959 | chr2:209451563-209451564 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs139095398 | chr2:209451573-209451574 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs180899597 | chr2:209451576-209451577 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs549019400 | chr2:209451629-209451630 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs542482727 | chr2:209451638-209451639 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs12613146 | chr2:209451694-209451695 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs112029927 | chr2:209451732-209451733 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs112499496 | chr2:209451733-209451734 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs561119371 | chr2:209452014-209452015 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs113326760 | chr2:209452025-209452026 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs535333248 | chr2:209452027-209452028 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs113719397 | chr2:209452034-209452035 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs578157278 | chr2:209452040-209452041 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs201580442 | chr2:209452043-209452044 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs199566691 | chr2:209452044-209452045 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs116035046 | chr2:209452082-209452083 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs557066517 | chr2:209452096-209452097 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs573125001 | chr2:209452122-209452123 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs565132668 | chr2:209452124-209452125 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:55)
| Disease | PMID | Source |
|---|---|---|
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Ependymoma | 16718352 | CNVD |
| Melanoma | 18172304 | CNVD |
| Cancer | 16751803 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Acute lymphoblastic leukemia | 21980252 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Testicular germ cell tumor | 18059402 | CNVD |
| Breast cancer | 16272173 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Cancer | 21637783 | CNVD |
| Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Embryonal rhabdomyosarcoma | 16790082 | CNVD |
| Autism | 16446308 | CNVD |
| Autism | 19401682 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Biliary cancer | 20360734 | CNVD |
| Breast cancer | 20360734 | CNVD |
| Coronary artery disease | 20360734 | CNVD |
| Crohn''s disease | 20360734 | CNVD |
| Hypertension | 20360734 | CNVD |
| Rheumatoid arthritis | 20360734 | CNVD |
| Type 1 diabetes | 20360734 | CNVD |
| Type 2 diabetes | 20360734 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Cervical cancer | 21062161 | CNVD |
| Adenoid cystic carcinoma | 18698036 | CNVD |
| Non-muscle invasive bladder neoplasm | 19445696 | CNVD |
| Non-small cell lung cancer | 21829676 | CNVD |
| Autism | 20808228 | CNVD |
| Renal cell carcinoma | 18765545 | CNVD |
| Ovarian cancer | 19193619 | CNVD |
| Non-small cell lung cancer | 18676828 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Myofibroblastic sarcoma | 19369631 | CNVD |
| Chordoma | 18071362 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Schizophrenia | 18923514 | CNVD |
| Schizophrenia | 22241247 | CNVD |
| Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
| Urothelial cell carcinoma | 18451213 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Schizophrenia | 23813976 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:209438800-209459400 | Weak transcription | K562 | blood |
| 2 | chr2:209449400-209458800 | Weak transcription | iPS-15b Cell Line | embryonic stem cell |
