Variant report
Variant | esv3517121 |
---|---|
Chromosome Location | chr5:108594424-108601961 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:3)
- 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 | rs181034417 | chr5:108594513-108594514 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs575888788 | chr5:108594568-108594569 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs368832257 | chr5:108594570-108594571 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs546443990 | chr5:108594571-108594572 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs371410222 | chr5:108594580-108594581 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs374799403 | chr5:108594615-108594616 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs139182126 | chr5:108594627-108594628 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs149516048 | chr5:108594635-108594636 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs144017716 | chr5:108594713-108594714 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs115017116 | chr5:108594753-108594754 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs148647397 | chr5:108594776-108594777 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs116300826 | chr5:108594789-108594790 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs143258569 | chr5:108594796-108594797 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs375014827 | chr5:108594806-108594807 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs530590701 | chr5:108594841-108594842 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs563561638 | chr5:108594858-108594859 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs551969662 | chr5:108594862-108594863 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs570371609 | chr5:108594943-108594944 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs114942389 | chr5:108594967-108594968 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs146678874 | chr5:108594973-108594974 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs187113183 | chr5:108594983-108594984 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs568352506 | chr5:108594988-108594989 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs139097040 | chr5:108595019-108595020 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs557465173 | chr5:108595028-108595029 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs58008430 | chr5:108595048-108595049 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
26 | rs10038338 | chr5:108595103-108595104 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs558390367 | chr5:108595161-108595162 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs10043924 | chr5:108595181-108595182 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs545972790 | chr5:108595293-108595294 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs371918057 | chr5:108597919-108597920 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs374976736 | chr5:108597940-108597941 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs368990100 | chr5:108597941-108597942 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs372369652 | chr5:108597986-108597987 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs376648751 | chr5:108598150-108598151 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs201089705 | chr5:108598212-108598213 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs202235851 | chr5:108598215-108598216 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs113017939 | chr5:108599903-108599904 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs113902361 | chr5:108599992-108599993 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs540561743 | chr5:108600127-108600128 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs200200376 | chr5:108600558-108600559 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs200874786 | chr5:108600568-108600569 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs550945514 | chr5:108600969-108600970 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs71626612 | chr5:108600974-108600975 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs374944718 | chr5:108601106-108601107 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs199833330 | chr5:108601107-108601108 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs369967034 | chr5:108601124-108601125 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs75391304 | chr5:108601138-108601139 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs541445430 | chr5:108601141-108601142 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs190726840 | chr5:108601159-108601160 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs530530177 | chr5:108601214-108601215 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Metanephric adenoma | 20802469 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Acute lymphoblastic leukemia | 17690704 | CNVD |
Gastrointestinal stromal cancer | 16982739 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Phyllodes tumor | 17334353 | CNVD |
Malaria | 21533027 | CNVD |
Renal cell carcinoma | 19461508 | CNVD |
Cancer | 20164919 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Cancer | 16751803 | CNVD |
Intellectual disability | 22102821 | CNVD |
Breast cancer | 17603634 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Melanoma | 18172304 | CNVD |
Glioma | 20126413 | CNVD |
Breast cancer | 17393978 | CNVD |
Cancer | 21359685 | CNVD |
Non-small cell lung cancer | 21829676 | CNVD |
adenomatous polyposis | 22470819 | CNVD |
Cancer | 22429812 | CNVD |
Cancer | 21637783 | CNVD |
Colorectal cancer | 20709793 | CNVD |
Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
Liposarcoma | 21253554 | CNVD |
Acute lymphoblastic leukemia | 21390130 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Breast cancer | 21264507 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Glioblastoma multiforme | 17387387 | CNVD |
Breast cancer | 21858162 | CNVD |
Leukemia | 17361228 | CNVD |
Myelodysplastic syndrome | 18508791 | CNVD |
5q-syndrome | 17576883 | CNVD |
Gastric cancer | 17908304 | CNVD |
Lung cancer | 16740712 | CNVD |
Oral squamous cell carcinoma | 17134496 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Esophageal adenocarcinoma | 19417022 | CNVD |
Barrett''s syndrome | 19417022 | CNVD |
Lung cancer | 18438408 | CNVD |
Retinoblastoma | 22278416 | CNVD |
Bipolar disorder | 18458673 | CNVD |
Thyroid cancer | 19087340 | CNVD |
Breast cancer | 21785460 | CNVD |
Squamous cell cancer | 20885788 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Neurodevelopmental disorder | 22521361 | CNVD |
Prostate cancer | 18632612 | CNVD |
Breast cancer | 17133270 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Prostate cancer | 16573809 | CNVD |
Cancer | 20164920 | CNVD |
Myelodysplastic syndrome | 21251322 | CNVD |
abnormal development | 18461090 | CNVD |
Colorectal cancer | 16774939 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Acute lymphoblastic leukemia | 21339820 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Hodgkin''s lymphoma | 18641027 | CNVD |
Multiple myeloma | 17550852 | CNVD |
Chronic lymphocytic leukemia | 18922857 | CNVD |
Ovarian cancer | 21720365 | CNVD |
Neurocytoma | 17123091 | CNVD |
Salivary gland tumor | 18059337 | CNVD |
Breast cancer | 21509527 | CNVD |
Breast cancer | 16608533 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Lung cancer | 16773561 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr5:108586000-108606000 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
2 | chr5:108594200-108601600 | Weak transcription | Pancreas | Pancrea |
3 | chr5:108594800-108595000 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
4 | chr5:108601600-108601800 | ZNF genes & repeats | Pancreas | Pancrea |
5 | chr5:108601800-108615000 | Weak transcription | Pancreas | Pancrea |