Variant report
Variant | esv275006 |
---|---|
Chromosome Location | chr3:119839762-119840713 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:1)
- CpG islands (count:0)
- Chromatin interactive region (count:4)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:1 , 50 per page) page:
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No data |
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1
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr3:119825155..119827767-chr3:119838383..119840423,2 | MCF-7 | breast: | |
2 | chr3:119812665..119814699-chr3:119837319..119839801,2 | MCF-7 | breast: | |
3 | chr3:119811613..119814505-chr3:119840328..119842148,2 | MCF-7 | breast: | |
4 | chr3:119831699..119833814-chr3:119838273..119840235,2 | MCF-7 | breast: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
RN7SL397P | TF binding region |
ENSG00000242622 | chromatin interactions |
ENSG00000082701 | chromatin interactions |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs554641763 | chr3:119839775-119839776 | Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
2 | rs139763070 | chr3:119839843-119839844 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs334547 | chr3:119839869-119839870 | Weak transcription | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
4 | rs75699113 | chr3:119839943-119839944 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs138548723 | chr3:119839981-119839982 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs143631422 | chr3:119840026-119840027 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs146785350 | chr3:119840057-119840058 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs563187208 | chr3:119840103-119840104 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs191466246 | chr3:119840126-119840127 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs550640391 | chr3:119840197-119840198 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs182537618 | chr3:119840220-119840221 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs9829112 | chr3:119840234-119840235 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
13 | rs188404575 | chr3:119840278-119840279 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs576461526 | chr3:119840279-119840280 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs546456541 | chr3:119840351-119840352 | Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
16 | rs9849392 | chr3:119840359-119840360 | Weak transcription | Chromatin interactive region | 2 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
17 | rs538470663 | chr3:119840362-119840363 | Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
18 | rs560552414 | chr3:119840379-119840380 | Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
19 | rs558388266 | chr3:119840405-119840406 | Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
20 | rs334548 | chr3:119840409-119840410 | Weak transcription | Chromatin interactive region | 2 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
21 | rs115752182 | chr3:119840449-119840450 | Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
22 | rs141114675 | chr3:119840466-119840467 | Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
23 | rs574819186 | chr3:119840485-119840486 | Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
24 | rs540697039 | chr3:119840494-119840495 | Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
25 | rs192640562 | chr3:119840522-119840523 | Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
26 | rs144841005 | chr3:119840598-119840599 | Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
27 | rs546421282 | chr3:119840605-119840606 | Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
28 | rs528010809 | chr3:119840614-119840615 | Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
29 | rs184786486 | chr3:119840624-119840625 | Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
30 | rs189141977 | chr3:119840630-119840631 | Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
31 | rs547803360 | chr3:119840637-119840638 | Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
32 | rs544208367 | chr3:119840676-119840677 | Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
33 | rs78709143 | chr3:119840679-119840680 | Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
34 | rs334549 | chr3:119840713-119840714 | Weak transcription | Chromatin interactive region | 2 gene(s) | LD-proxies of rSNPOverlapped rCNV | 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 |
Cancer | 21183584 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Bipolar disorder | 20877625 | CNVD |
Bipolar disorder | 21956041 | CNVD |
Bipolar disorder | 22241247 | CNVD |
Biliary cancer | 18923514 | CNVD |
Prostate cancer | 21965145 | CNVD |
Cancer | 21129771 | CNVD |
Congenital diaphragmatic hernia | 21085971 | CNVD |
Cervical cancer | 21062161 | CNVD |
Squamous cell cancer | 20885788 | CNVD |
Melanoma | 18172304 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Bipolar disorder | 18458673 | CNVD |
Breast cancer | 22032731 | CNVD |
head and neck squamous cell carcinoma | 17671120 | CNVD |
Breast cancer | 16461572 | CNVD |
Neuroblastoma | 17533364 | CNVD |
microdeletion syndrome | 22180640 | 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 |
Acute lymphoblastic leukemia | 21339820 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Breast cancer | 16608533 | CNVD |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Developmental delay | 22180640 | CNVD |
Multiple myeloma | 17550852 | CNVD |
Basal cell lymphoma | 21115979 | CNVD |
Ovarian cancer | 22174824 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Cancer | 20164920 | CNVD |
T-cell acute lymphoblastic leukemia | 18185524 | CNVD |
Glioblastoma multiforme | 22286061 | CNVD |
Neurodevelopmental disorder | 22521361 | CNVD |
High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr3:119836800-119860800 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |