Variant report
Variant | esv3440040 |
---|---|
Chromosome Location | chr3:146352087-146354635 |
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 | chr3:146353700..146355636-chr3:146357021..146358712,2 | MCF-7 | breast: |
No data |
No data |
No data |
No data |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs549415797 | chr3:146352097-146352098 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs62275406 | chr3:146352107-146352108 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs17368986 | chr3:146352140-146352141 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
4 | rs532942281 | chr3:146352147-146352148 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs551046888 | chr3:146352183-146352184 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs564816193 | chr3:146352213-146352214 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs543410987 | chr3:146352215-146352216 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs549988783 | chr3:146352223-146352224 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs202215238 | chr3:146352283-146352284 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs535326681 | chr3:146352372-146352373 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs535593290 | chr3:146352427-146352428 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs141036596 | chr3:146352453-146352454 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs190500258 | chr3:146352462-146352463 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs150135140 | chr3:146352508-146352509 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs539837399 | chr3:146352519-146352520 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs138609826 | chr3:146352534-146352535 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs201945476 | chr3:146352600-146352601 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs73159116 | chr3:146352601-146352602 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
19 | rs181794115 | chr3:146352645-146352646 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs199637008 | chr3:146352722-146352723 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs573879968 | chr3:146352727-146352728 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs185937822 | chr3:146352803-146352804 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs531616469 | chr3:146352868-146352869 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs188792754 | chr3:146352887-146352888 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs342935 | chr3:146352891-146352892 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
26 | rs563100743 | chr3:146352895-146352896 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs199772872 | chr3:146352904-146352905 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs200509536 | chr3:146352920-146352921 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs201684431 | chr3:146352922-146352923 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs576505017 | chr3:146352956-146352957 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs545008202 | chr3:146352963-146352964 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs563114791 | chr3:146352965-146352966 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs531914352 | chr3:146352984-146352985 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs342934 | chr3:146353016-146353017 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
35 | rs561991949 | chr3:146353039-146353040 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs529455766 | chr3:146353040-146353041 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs547642572 | chr3:146353063-146353064 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs116753589 | chr3:146353064-146353065 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs114981528 | chr3:146353084-146353085 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs201440889 | chr3:146353093-146353094 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs373849276 | chr3:146353097-146353098 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs115481383 | chr3:146353110-146353111 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs570057827 | chr3:146353113-146353114 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs114422482 | chr3:146353119-146353120 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs537393531 | chr3:146353128-146353129 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs377115840 | chr3:146353130-146353131 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs377293797 | chr3:146353132-146353133 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs369139170 | chr3:146353133-146353134 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs61724519 | chr3:146353135-146353136 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs567525016 | chr3:146353139-146353140 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Basal cell lymphoma | 17053054 | CNVD |
Esophageal cancer | 21851588 | CNVD |
Uveal melanoma | 21693616 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Retinoblastoma | 21504564 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Intellectual disability | 22102821 | CNVD |
Autism | 22495311 | CNVD |
Lung cancer | 18438408 | CNVD |
Squamous cell cancer | 20885788 | CNVD |
Melanoma | 18172304 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Bipolar disorder | 18458673 | CNVD |
Breast cancer | 22032731 | CNVD |
Breast cancer | 16461572 | CNVD |
Neuroblastoma | 17533364 | CNVD |
Cervical Cancer | 21857958 | CNVD |
Melanoma | 21693616 | CNVD |
Lung cancer | 21426551 | CNVD |
Cancer | 21637783 | CNVD |
Cervical cancer | 21063398 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Liposarcoma | 21253554 | CNVD |
Oral cancer | 21386901 | CNVD |
Renal cell carcinoma | 19461508 | CNVD |
Cancer | 22065749 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Breast cancer | 21264507 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Basal cell lymphoma | 21115979 | CNVD |
Colorectal cancer | 18645599 | CNVD |
head and neck squamous cell carcinoma | 17671120 | CNVD |
High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Esophageal squamous carcinoma | 18350619 | CNVD |
Myelodysplastic syndrome | 21251322 | CNVD |
Blepharophimosis-ptosis-epicanthus inversus syndrome | 22067867 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Acute lymphoblastic leukemia | 21339820 | CNVD |
abnormal development | 18461090 | CNVD |
Breast cancer | 21364760 | CNVD |
Mental retardation | 17847001 | CNVD |
Basal cell lymphoma | 17170743 | CNVD |
Gastrointestinal stromal cancer | 20818650 | CNVD |
Autism | 18923514 | CNVD |
Autism | 22241247 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Acute lymphoblastic leukemia | 21390130 | CNVD |
Autism | 21956041 | CNVD |
Ovarian clear cell carcinoma | 19293255 | CNVD |
Breast cancer | 16608533 | CNVD |
Myofibroblastic sarcoma | 19369631 | CNVD |
Breast cancer | 21509527 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr3:146350800-146352400 | Enhancers | HepG2 | liver |
2 | chr3:146352400-146354000 | Weak transcription | HepG2 | liver |
3 | chr3:146354000-146356600 | Enhancers | HepG2 | liver |
4 | chr3:146354400-146355000 | Enhancers | HUES48 Cell Line | embryonic stem cell |