Variant report
Variant | esv3410626 |
---|---|
Chromosome Location | chr18:24694954-24698552 |
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 | rs145915974 | chr18:24694965-24694966 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
2 | rs138730902 | chr18:24694978-24694979 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
3 | rs556032167 | chr18:24694997-24694998 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
4 | rs556009350 | chr18:24695025-24695026 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
5 | rs377439868 | chr18:24695068-24695069 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
6 | rs574527574 | chr18:24695089-24695090 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
7 | rs542184957 | chr18:24695104-24695105 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
8 | rs553139209 | chr18:24695153-24695154 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
9 | rs80072436 | chr18:24695203-24695204 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs527794532 | chr18:24695310-24695311 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs545929467 | chr18:24695330-24695331 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs67413432 | chr18:24695331-24695332 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
13 | rs372975117 | chr18:24695344-24695345 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs141177141 | chr18:24695458-24695459 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs529574763 | chr18:24695460-24695461 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs150730603 | chr18:24695462-24695463 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs139024456 | chr18:24695525-24695526 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs548187738 | chr18:24695556-24695557 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs561643264 | chr18:24695590-24695591 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs149650041 | chr18:24695592-24695593 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs370584886 | chr18:24695602-24695603 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs545091323 | chr18:24695614-24695615 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs146147178 | chr18:24695670-24695671 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs73406615 | chr18:24695775-24695776 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs200655011 | chr18:24695781-24695782 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs12963367 | chr18:24695852-24695853 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
27 | rs143816961 | chr18:24695856-24695857 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs73406617 | chr18:24695872-24695873 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs574414489 | chr18:24695877-24695878 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs541717798 | chr18:24695882-24695883 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs182793814 | chr18:24695899-24695900 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs146835124 | chr18:24695910-24695911 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs148535039 | chr18:24695916-24695917 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs549145272 | chr18:24695976-24695977 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs548225920 | chr18:24696041-24696042 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs114788406 | chr18:24696074-24696075 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs567669406 | chr18:24696138-24696139 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs368314696 | chr18:24696168-24696169 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs544048623 | chr18:24696191-24696192 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs2081642 | chr18:24696206-24696207 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs111412416 | chr18:24696215-24696216 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs529602927 | chr18:24696216-24696217 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs142870162 | chr18:24696241-24696242 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs185935705 | chr18:24696308-24696309 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs2081641 | chr18:24696313-24696314 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
46 | rs546756704 | chr18:24696333-24696334 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs374492740 | chr18:24696341-24696342 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs538919729 | chr18:24696407-24696408 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs367814664 | chr18:24696409-24696410 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs151047631 | chr18:24696431-24696432 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Colorectal cancer | 16272173 | CNVD |
Colorectal cancer | 19150955 | CNVD |
Esophageal squamous carcinoma | 18350619 | CNVD |
Follicular lymphoma | 20505157 | CNVD |
Chordoma | 21602918 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Neuroblastoma | 18923191 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Cancer | 21637783 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Splenic marginal zone lymphoma | 21957467 | CNVD |
Trisomy 18 syndrome | 17576883 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Barrett''s syndrome | 19417022 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Multiple myeloma | 17550852 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Glioblastoma multiforme | 21922591 | CNVD |
Melanoma | 18172304 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Acute lymphoblastic leukemia | 17690704 | CNVD |
Lung cancer | 18438408 | CNVD |
18q deletion syndrome | 19533772 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Colorectal cancer | 21102417 | CNVD |
Colorectal cancer | 20709793 | CNVD |
Pancreatic cancer | 21811562 | CNVD |
Basal cell lymphoma | 21115979 | CNVD |
Mucosa-associated lymphoid tissue lymphomas | 21459788 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Breast cancer | 21264507 | CNVD |
Oligodendroglial tumors | 17285580 | CNVD |
colon cancer | 17210682 | CNVD |
Breast cancer | 21785460 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Prostate cancer | 16573809 | CNVD |
Autism | 16446308 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Human rectal carcinomas | 16397240 | CNVD |
Medulloblastoma | 18056178 | CNVD |
Gastrointestinal stromal cancer | 16982739 | CNVD |
Cancer | 16751803 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Sudden cardiac death | 19188705 | CNVD |
Breast cancer | 17133270 | CNVD |
Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
Acute lymphoblastic leukemia | 21339820 | CNVD |
Colorectal cancer | 16774939 | CNVD |
Colorectal cancer | 21297112 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Colorectal cancer | 21645411 | CNVD |
Glioblastoma multiforme | 17002787 | CNVD |
Cancer | 21183584 | CNVD |
Breast cancer | 17603634 | CNVD |
Thyroid cancer | 19087340 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Acute myeloid leukemia | 19651600 | CNVD |
Prostate cancer | 22341455 | CNVD |
Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
Non-syndromic sensorineural hearing loss | 19587683 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr18:24689200-24703600 | Weak transcription | H9 Cell Line | embryonic stem cell |
2 | chr18:24693200-24695200 | ZNF genes & repeats | Pancreatic Islets | Pancreatic Islet |
3 | chr18:24693600-24707200 | Weak transcription | Ganglion Eminence derived primary cultured neurospheres | brain |
4 | chr18:24694200-24699400 | Weak transcription | HUES6 Cell Line | embryonic stem cell |
5 | chr18:24695200-24699200 | Weak transcription | Pancreatic Islets | Pancreatic Islet |
6 | chr18:24697600-24697800 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
7 | chr18:24697800-24699000 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |