Variant report
Variant | esv1799196 |
---|---|
Chromosome Location | chr19:23806260-23819366 |
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)
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No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs184154255 | chr19:23813874-23813875 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs112719586 | chr19:23813917-23813918 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs530001443 | chr19:23813947-23813948 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs374484213 | chr19:23814050-23814051 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs548555419 | chr19:23814055-23814056 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs566854497 | chr19:23814080-23814081 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs797787 | chr19:23814087-23814088 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
8 | rs534583713 | chr19:23814097-23814098 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs552884059 | chr19:23814106-23814107 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs548331165 | chr19:23814113-23814114 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs571078014 | chr19:23814179-23814180 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs535758447 | chr19:23814232-23814233 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs181864486 | chr19:23814297-23814298 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs538469923 | chr19:23814309-23814310 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs73563079 | chr19:23814312-23814313 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
16 | rs7250729 | chr19:23814336-23814337 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs575286939 | chr19:23814361-23814362 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs797786 | chr19:23814365-23814366 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
19 | rs554525816 | chr19:23814366-23814367 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs572907554 | chr19:23814377-23814378 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs142472417 | chr19:23814417-23814418 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs115659776 | chr19:23814431-23814432 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs549222341 | chr19:23814545-23814546 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs374015025 | chr19:23814562-23814563 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs376048724 | chr19:23814563-23814564 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs35446969 | chr19:23814564-23814565 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs59699926 | chr19:23814582-23814583 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs11672109 | chr19:23814589-23814590 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
29 | rs369427821 | chr19:23814604-23814605 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs185353876 | chr19:23814716-23814717 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs189886461 | chr19:23814718-23814719 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs143323227 | chr19:23814733-23814734 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs797785 | chr19:23814749-23814750 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
34 | rs527697503 | chr19:23814782-23814783 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs546463966 | chr19:23814832-23814833 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs73563080 | chr19:23814854-23814855 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs538408294 | chr19:23814866-23814867 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs115902556 | chr19:23814902-23814903 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs138348127 | chr19:23814970-23814971 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs536326896 | chr19:23814972-23814973 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs142345895 | chr19:23814973-23814974 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs182417828 | chr19:23814991-23814992 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs117664133 | chr19:23815009-23815010 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs533772348 | chr19:23815026-23815027 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs559253578 | chr19:23815040-23815041 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs144618322 | chr19:23815071-23815072 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs544627238 | chr19:23815077-23815078 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs186314100 | chr19:23815082-23815083 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs574968149 | chr19:23815140-23815141 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs189998492 | chr19:23815144-23815145 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
Prostate cancer | 16573809 | CNVD |
Chordoma | 18071362 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Oligodendroglial tumors | 17285580 | CNVD |
Oral cancer | 21386901 | CNVD |
ovarian endometriomas | 16273235 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Breast cancer | 21264507 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 17387387 | CNVD |
Cervical cancer | 21063398 | CNVD |
Myelodysplastic syndrome | 17634407 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Chordoma | 21602918 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Cancer | 21637783 | CNVD |
Retinoblastoma | 21504564 | CNVD |
Ovarian cancer | 21720365 | CNVD |
Cancer | 20164919 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Prostate cancer | 18632612 | CNVD |
Autism | 22495311 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Acute lymphoblastic leukemia | 21248843 | CNVD |
Lung cancer | 18438408 | CNVD |
Adenoid cystic carcinoma | 18698036 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Cancer | 21183584 | CNVD |
Colorectal cancer | 20459617 | CNVD |
Ductal carcinoma | 22052326 | CNVD |
Cancer | 20164920 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr19:23813800-23817200 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |