Variant report
Variant | esv2422533 |
---|---|
Chromosome Location | chr4:92371953-92373457 |
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 | rs561543802 | chr4:92371956-92371957 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs548296399 | chr4:92372026-92372027 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs563023690 | chr4:92372045-92372046 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs530641348 | chr4:92372046-92372047 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs36001301 | chr4:92372047-92372048 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs115090479 | chr4:92372049-92372050 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs199538276 | chr4:92372054-92372055 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs536665056 | chr4:92372076-92372077 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs34070818 | chr4:92372090-92372091 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs75992451 | chr4:92372132-92372133 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs552004620 | chr4:92372168-92372169 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs532790084 | chr4:92372209-92372210 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs7665346 | chr4:92372234-92372235 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs145463608 | chr4:92372238-92372239 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs386677247 | chr4:92372239-92372240 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs371940745 | chr4:92372240-92372241 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs544287032 | chr4:92372286-92372287 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs570253714 | chr4:92372336-92372337 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs570409169 | chr4:92372379-92372380 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs192244602 | chr4:92372387-92372388 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs115700396 | chr4:92372427-92372428 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs114846780 | chr4:92372443-92372444 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs111235605 | chr4:92372493-92372494 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs186662449 | chr4:92372542-92372543 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs191162939 | chr4:92372553-92372554 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs371728361 | chr4:92372570-92372571 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs534638676 | chr4:92372617-92372618 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs574252169 | chr4:92372624-92372625 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs543312478 | chr4:92372640-92372641 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs66541222 | chr4:92372642-92372643 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
31 | rs574601787 | chr4:92372648-92372649 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs200398662 | chr4:92372662-92372663 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs576690601 | chr4:92372730-92372731 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs544371511 | chr4:92372762-92372763 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs564017869 | chr4:92372816-92372817 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs533005872 | chr4:92372830-92372831 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs575624082 | chr4:92372882-92372883 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs546282983 | chr4:92372975-92372976 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs144475933 | chr4:92373016-92373017 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs529167297 | chr4:92373033-92373034 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs548851526 | chr4:92373111-92373112 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs555665025 | chr4:92373116-92373117 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs568739362 | chr4:92373124-92373125 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs537647869 | chr4:92373156-92373157 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs551889848 | chr4:92373190-92373191 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs74817274 | chr4:92373191-92373192 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs115611133 | chr4:92373204-92373205 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs534250756 | chr4:92373227-92373228 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs553899378 | chr4:92373303-92373304 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs1922230 | chr4:92373327-92373328 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
Disease | PMID | Source |
---|---|---|
Acute lymphoblastic leukemia | 22237106 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Chordoma | 21602918 | CNVD |
HIV/AIDS | 22032296 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Neuroblastoma | 18923191 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Intellectual disability | 22102821 | CNVD |
Autism | 22495311 | CNVD |
Breast cancer | 21858162 | CNVD |
Small bowel adenocarcinoma | 21586687 | CNVD |
Gastric cancer | 21586687 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Melanoma | 18172304 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Breast cancer | 17603634 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Myxofibrosarcoma | 16751306 | CNVD |
Esophageal squamous carcinoma | 18350619 | CNVD |
Parkinson disease | 18923514 | CNVD |
Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
Cancer | 21183584 | CNVD |
Breast cancer | 16272173 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Malignant mesothelioma | 18160781 | CNVD |
Medulloblastoma | 18056178 | CNVD |
Multiple myeloma | 17077331 | CNVD |
Pleural malignant mesothelioma | 18160781 | CNVD |
Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
Oral squamous cell carcinoma | 17134496 | CNVD |
4q-syndrome | 17576883 | CNVD |
Cancer | 21637783 | CNVD |
Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
Colorectal cancer | 20709793 | CNVD |
Muscular dystrophy | 21149563 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Breast cancer | 21264507 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Glioblastoma multiforme | 17387387 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Liposarcoma | 21253554 | CNVD |
Oligodendroglial tumors | 17285580 | CNVD |
Cervical cancer | 21062161 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Breast cancer | 16608533 | CNVD |
Adenoid cystic carcinoma | 18698036 | CNVD |
Lung cancer | 19208797 | CNVD |
Wilms tumour | 21544195 | CNVD |
Breast cancer | 21785460 | CNVD |
Chronic lymphocytic leukemia | 20421269 | CNVD |
Myelodysplastic syndrome | 21251322 | CNVD |
Lung cancer | 18438408 | CNVD |
Chronic lymphocytic leukemia | 18922857 | CNVD |
Cancer | 22429812 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Autism | 18414403 | CNVD |
primary effusion lymphomas | 17116491 | CNVD |
Mental retardation | 20522426 | CNVD |
delayed speech | 20522426 | CNVD |
growth disorder | 20522426 | CNVD |
Olfactory neuroblastoma | 18408657 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Splenic marginal zone lymphoma | 21957467 | CNVD |
Breast cancer | 17133270 | CNVD |
Colorectal cancer | 20459617 | CNVD |
Acute monocytic leukemia | 16498392 | CNVD |
Multiple myeloma | 16616336 | CNVD |
Esophageal adenocarcinoma | 18820669 | CNVD |
High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Parkinson disease | 20877625 | CNVD |
Hirschsprung''s Disease | 21712996 | CNVD |
Congenital anomalies of the kidney and urinary tract | 20505237 | CNVD |
Breast cancer | 17393978 | CNVD |
Ovarian cancer | 21720365 | CNVD |
Obesity | 20622171 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Cancer | 20164920 | CNVD |
Cancer | 20164919 | CNVD |
Esophageal cancer | 21851588 | CNVD |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr4:92369800-92372000 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
2 | chr4:92370600-92375200 | Weak transcription | HUES48 Cell Line | embryonic stem cell |
3 | chr4:92371400-92375000 | Weak transcription | iPS-15b Cell Line | embryonic stem cell |
4 | chr4:92372000-92375000 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |