Variant report
Variant | esv2760312 |
---|---|
Chromosome Location | chr13:85873153-85884770 |
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 | rs541936267 | chr13:85883652-85883653 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
2 | rs557204363 | chr13:85883657-85883658 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
3 | rs1412029 | chr13:85883666-85883667 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
4 | rs530528778 | chr13:85883671-85883672 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
5 | rs186414041 | chr13:85883680-85883681 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
6 | rs191177900 | chr13:85883698-85883699 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
7 | rs182958021 | chr13:85883738-85883739 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
8 | rs564440060 | chr13:85883759-85883760 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
9 | rs187593888 | chr13:85883770-85883771 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
10 | rs550204872 | chr13:85883792-85883793 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
11 | rs1175964 | chr13:85883801-85883802 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
12 | rs529827206 | chr13:85883820-85883821 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs547962600 | chr13:85883851-85883852 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs566528711 | chr13:85883852-85883853 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs4911062 | chr13:85883880-85883881 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
16 | rs558738684 | chr13:85883938-85883939 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs570800230 | chr13:85883981-85883982 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs4911063 | chr13:85884000-85884001 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
19 | rs556621953 | chr13:85884011-85884012 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs35128400 | chr13:85884032-85884033 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs10537380 | chr13:85884093-85884094 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs374581403 | chr13:85884096-85884097 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs74799736 | chr13:85884110-85884111 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs4911064 | chr13:85884117-85884118 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
25 | rs553994864 | chr13:85884121-85884122 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs572453385 | chr13:85884136-85884137 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs191040755 | chr13:85884139-85884140 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs545994238 | chr13:85884166-85884167 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs564333811 | chr13:85884308-85884309 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs1984044 | chr13:85884371-85884372 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
31 | rs9531754 | chr13:85884407-85884408 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs543688911 | chr13:85884481-85884482 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs78947300 | chr13:85884502-85884503 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs183306003 | chr13:85884525-85884526 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs529674759 | chr13:85884539-85884540 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs557019955 | chr13:85884557-85884558 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs566448114 | chr13:85884565-85884566 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs566979415 | chr13:85884634-85884635 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs202053792 | chr13:85884635-85884636 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs527370800 | chr13:85884646-85884647 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs200730336 | chr13:85884652-85884653 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs137863028 | chr13:85884657-85884658 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs542583569 | chr13:85884658-85884659 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs202096495 | chr13:85884661-85884662 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs66597786 | chr13:85884663-85884664 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs200215052 | chr13:85884664-85884665 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs72637013 | chr13:85884673-85884674 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs570637674 | chr13:85884724-85884725 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs139081183 | chr13:85884763-85884764 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
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 |
Breast cancer | 17133270 | CNVD |
Myoepithelioma | 18604193 | CNVD |
Acute lymphoblastic leukemia | 17690704 | CNVD |
Prostate cancer | 18632612 | CNVD |
Colorectal cancer | 21586687 | 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 |
Breast cancer | 21858162 | 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 |
Myelofibrosis | 22110671 | CNVD |
Glioblastoma multiforme | 22286061 | CNVD |
Barrett''s adenocarcinoma | 18663352 | CNVD |
Urothelial cell carcinoma | 18451213 | CNVD |
Developmental delay | 19490664 | CNVD |
Neurodevelopmental disorder | 22521361 | CNVD |
Cancer | 21220470 | CNVD |
Cancer | 21183584 | CNVD |
Omodysplasia | 19481194 | CNVD |
Breast cancer | 22032731 | CNVD |
Congenital anomalies of the kidney and urinary tract | 20467480 | CNVD |
Cancer | 17160897 | CNVD |
Mantle cell lymphoma | 19690137 | CNVD |
Rhabdomyosarcoma | 17210683 | CNVD |
Ovarian clear cell carcinoma | 21343371 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr13:85883600-85883800 | ZNF genes & repeats | Foreskin Melanocyte Primary Cells skin03 | Skin |
2 | chr13:85883800-85887600 | Weak transcription | Foreskin Melanocyte Primary Cells skin03 | Skin |
3 | chr13:85884200-85887600 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |