Variant report
Variant | esv3391664 |
---|---|
Chromosome Location | chr3:89658311-89674900 |
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 | rs540355309 | chr3:89662409-89662410 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs535823885 | chr3:89662424-89662425 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs138133967 | chr3:89662427-89662428 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs181068532 | chr3:89662441-89662442 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs373220042 | chr3:89662454-89662455 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs569358712 | chr3:89662455-89662456 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs550558491 | chr3:89662468-89662469 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs142351826 | chr3:89662469-89662470 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs377314230 | chr3:89662508-89662509 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs549300638 | chr3:89662520-89662521 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs567549007 | chr3:89662524-89662525 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs569392495 | chr3:89662552-89662553 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs150521048 | chr3:89662593-89662594 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs553016810 | chr3:89662604-89662605 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs542695778 | chr3:89662627-89662628 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs146328213 | chr3:89662717-89662718 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs139508591 | chr3:89662732-89662733 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs73847666 | chr3:89662765-89662766 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
19 | rs557374360 | chr3:89662781-89662782 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs184996666 | chr3:89662801-89662802 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs190953056 | chr3:89662832-89662833 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs554443122 | chr3:89662871-89662872 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs183143504 | chr3:89662897-89662898 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs144507781 | chr3:89662929-89662930 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs187369567 | chr3:89662936-89662937 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs577015296 | chr3:89662961-89662962 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs543859872 | chr3:89663033-89663034 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs73153228 | chr3:89663040-89663041 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs55687413 | chr3:89663045-89663046 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs562544192 | chr3:89663064-89663065 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs531095964 | chr3:89663102-89663103 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs140885856 | chr3:89663110-89663111 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs561262477 | chr3:89663129-89663130 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs144832024 | chr3:89663140-89663141 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs546794651 | chr3:89663166-89663167 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs191414326 | chr3:89663175-89663176 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs531690134 | chr3:89663189-89663190 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs78122213 | chr3:89663219-89663220 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs550687560 | chr3:89663246-89663247 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs569259505 | chr3:89663252-89663253 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs370874169 | chr3:89663298-89663299 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs112745594 | chr3:89663322-89663323 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs199619549 | chr3:89663328-89663329 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs368215547 | chr3:89663341-89663342 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs112131122 | chr3:89663349-89663350 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs554868156 | chr3:89663354-89663355 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs573181672 | chr3:89663425-89663426 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs147955947 | chr3:89663428-89663429 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs140234019 | chr3:89663437-89663438 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs183613905 | chr3:89663455-89663456 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Insulin resistance | 16721378 | CNVD |
Neuroblastoma | 18664255 | CNVD |
Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
Multiple myeloma | 17077331 | CNVD |
Oral squamous cell carcinoma | 17134496 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Neuroblastoma | 21484798 | CNVD |
Non-small cell lung cancer | 21044232 | CNVD |
Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
Oral cancer | 19627613 | CNVD |
Renal cell carcinoma | 19461508 | CNVD |
Epithelial cancer | 22065749 | CNVD |
Acute lymphoblastic leukemia | 21390130 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Liposarcoma | 21253554 | CNVD |
Basal cell lymphoma | 21115979 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Pancreatic endocrine tumor | 20981439 | CNVD |
Astrocytoma | 17387387 | CNVD |
Breast cancer | 21264507 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 17387387 | CNVD |
Oral cancer | 21386901 | CNVD |
Cutaneous squamous cell carcinomas | 19131950 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Basal cell lymphoma | 17053054 | CNVD |
Esophageal cancer | 21851588 | CNVD |
Uveal melanoma | 21693616 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Retinoblastoma | 21504564 | CNVD |
Renal cell carcinoma | 21668985 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Intellectual disability | 22102821 | CNVD |
Breast cancer | 17603634 | CNVD |
Uveal melanoma | 20484589 | CNVD |
Autism | 22495311 | CNVD |
Lung cancer | 18438408 | CNVD |
Hirschsprung''s Disease | 21712996 | CNVD |
Hepatocellular carcinoma | 16750200 | 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 |
Metanephric adenoma | 20802469 | CNVD |
Bipolar disorder | 18458673 | CNVD |
Breast cancer | 22032731 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Soft tissue tumor | 16732325 | CNVD |
Neurodevelopmental disorder | 22521361 | CNVD |
low-grade B-cell lymphoma tumor | 18367492 | CNVD |
craniofacial dysmorphism | 21918468 | CNVD |
Cancer | 20164920 | CNVD |
Lung cancer | 19547694 | CNVD |
Cancer | 20164919 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Bipolar disorder | 19114987 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr3:89662400-89662600 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
2 | chr3:89662400-89662800 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
3 | chr3:89662400-89662800 | Enhancers | HUES48 Cell Line | embryonic stem cell |
4 | chr3:89662400-89662800 | Enhancers | HUES6 Cell Line | embryonic stem cell |
5 | chr3:89662400-89662800 | Enhancers | Ovary | ovary |
6 | chr3:89662400-89663800 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
7 | chr3:89662800-89663600 | Weak transcription | Ovary | ovary |
8 | chr3:89663600-89663800 | Enhancers | Ovary | ovary |
9 | chr3:89663800-89664800 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
10 | chr3:89663800-89666800 | Weak transcription | Ovary | ovary |
11 | chr3:89664800-89665200 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
12 | chr3:89665200-89674600 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
13 | chr3:89666800-89667200 | Enhancers | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
14 | chr3:89666800-89667600 | Enhancers | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
15 | chr3:89666800-89667600 | Enhancers | Foreskin Fibroblast Primary Cells skin01 | Skin |
16 | chr3:89666800-89667600 | Bivalent Enhancer | Fetal Heart | heart |
17 | chr3:89666800-89667600 | Enhancers | HMEC | breast |
18 | chr3:89667000-89667200 | Enhancers | Ovary | ovary |
19 | chr3:89667000-89667400 | Enhancers | Foreskin Keratinocyte Primary Cells skin02 | Skin |
20 | chr3:89673600-89673800 | Enhancers | HepG2 | liver |
21 | chr3:89674000-89675000 | Weak transcription | HepG2 | liver |
22 | chr3:89674600-89675200 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |