Variant report
Variant | esv3339683 |
---|---|
Chromosome Location | chr13:98223551-98224549 |
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 | rs373138816 | chr13:98223611-98223612 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs570544919 | chr13:98223672-98223673 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs539432586 | chr13:98223687-98223688 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs549480021 | chr13:98223699-98223700 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs201930935 | chr13:98223704-98223705 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs77641380 | chr13:98223707-98223708 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs553600736 | chr13:98223730-98223731 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs9584605 | chr13:98223733-98223734 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
9 | rs202180640 | chr13:98223739-98223740 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs574739749 | chr13:98223740-98223741 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs551195383 | chr13:98223741-98223742 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs71117653 | chr13:98223759-98223760 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs368183829 | chr13:98223760-98223761 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs9556746 | chr13:98223766-98223767 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs201718189 | chr13:98223770-98223771 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs10599299 | chr13:98223799-98223800 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs68098516 | chr13:98223800-98223801 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs11069266 | chr13:98223801-98223802 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs191773210 | chr13:98223826-98223827 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs183576976 | chr13:98223827-98223828 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs9584606 | chr13:98223834-98223835 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs9584607 | chr13:98223836-98223837 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs34293737 | chr13:98223837-98223838 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs151309171 | chr13:98223838-98223839 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs9584608 | chr13:98223842-98223843 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs71433407 | chr13:98223844-98223845 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs9584609 | chr13:98223846-98223847 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs9584610 | chr13:98223852-98223853 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs67064082 | chr13:98223853-98223854 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs9584611 | chr13:98223858-98223859 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs9584612 | chr13:98223864-98223865 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs373942020 | chr13:98223870-98223871 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs367967652 | chr13:98223872-98223873 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs369260024 | chr13:98223875-98223876 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs67704524 | chr13:98223877-98223878 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs74211097 | chr13:98223883-98223884 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs67872158 | chr13:98223889-98223890 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs74188458 | chr13:98223896-98223897 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs371746846 | chr13:98223898-98223899 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs535916026 | chr13:98223900-98223901 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs67598150 | chr13:98223901-98223902 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs374031097 | chr13:98223913-98223914 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs146544198 | chr13:98223914-98223915 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs188261267 | chr13:98223916-98223917 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs374274019 | chr13:98223922-98223923 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs61972833 | chr13:98223930-98223931 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs376931676 | chr13:98223933-98223934 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs67334741 | chr13:98223938-98223939 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs368473967 | chr13:98223940-98223941 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs553695048 | chr13:98223948-98223949 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
HIV/AIDS | 22032296 | CNVD |
Prostate cancer | 16705090 | CNVD |
High-proliferative meningiomas | 17937814 | CNVD |
Cancer | 20164919 | CNVD |
Autism | 22495311 | CNVD |
Chordoma | 21602918 | CNVD |
Bladder cancer | 21949216 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Burkitt''s lymphoma | 18698080 | CNVD |
Cancer | 21637783 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Chronic lymphocytic leukemia | 21518781 | CNVD |
colon cancer | 17210682 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Colorectal cancer | 20709793 | CNVD |
Astrocytoma | 17387387 | CNVD |
Breast cancer | 21264507 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Glioblastoma multiforme | 17387387 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Ovarian cancer | 20844748 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Intracranial aneurysm | 19064780 | CNVD |
Breast cancer | 19287154 | CNVD |
Acute myeloid leukemia | 18379011 | CNVD |
Human rectal carcinomas | 16397240 | CNVD |
Olfactory neuroblastoma | 18408657 | CNVD |
Multiple myeloma | 17077331 | CNVD |
Ependymoma | 16718352 | CNVD |
Oral squamous cell carcinoma | 17134496 | CNVD |
Colorectal cancer | 16272173 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Gastrointestinal stromal cancer | 16982739 | CNVD |
Breast cancer | 16608533 | CNVD |
Neuroblastoma | 18923191 | CNVD |
Ovarian cancer | 22174824 | CNVD |
Myoepithelioma | 18604193 | CNVD |
Breast cancer | 17133270 | CNVD |
Prostate cancer | 18632612 | CNVD |
Melanoma | 18172304 | CNVD |
Prostate cancer | 16573809 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Basal cell lymphoma | 17053054 | CNVD |
Gastric cancer | 17908304 | CNVD |
Splenic marginal zone lymphoma | 18492102 | CNVD |
Liposarcoma | 21253554 | CNVD |
Acute promyelocytic leukemia | 19109227 | CNVD |
Chronic lymphocytic leukemia | 20421269 | CNVD |
Acute lymphoblastic leukemia | 21980252 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Lung cancer | 18438408 | CNVD |
Non-syndromic sensorineural hearing loss | 20606397 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Esophageal cancer | 21851588 | CNVD |
Breast cancer | 22032731 | CNVD |
Rhabdomyosarcoma | 17210683 | CNVD |
Wilms tumour | 21544195 | CNVD |
Developmental delay | 21147756 | CNVD |
Hirschsprung''s Disease | 21712996 | CNVD |
Cancer | 21183584 | CNVD |
Breast cancer | 17603634 | CNVD |
Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
Thyroid cancer | 19087340 | CNVD |
abortions and stillbirths | 19751515 | CNVD |
low-grade B-cell lymphoma tumor | 18367492 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
Esophageal adenocarcinoma | 18820669 | CNVD |
Burkitt''s lymphoma | 20823134 | CNVD |
Breast cancer | 21785460 | CNVD |
prenatal diagnosis | 22389664 | CNVD |
Bladder cancer | 21909424 | CNVD |
Gastrointestinal stromal cancer | 20818650 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Ovarian cancer | 21781307 | CNVD |
Breast cancer | 21364760 | CNVD |
Congenital anomalies of the kidney and urinary tract | 20467480 | CNVD |
Acute lymphoblastic leukemia | 18458336 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr13:98220000-98223600 | Enhancers | HUES6 Cell Line | embryonic stem cell |
2 | chr13:98220800-98223600 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
3 | chr13:98221200-98224600 | Weak transcription | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
4 | chr13:98221200-98225200 | Weak transcription | ES-WA7 Cell Line | embryonic stem cell |
5 | chr13:98221200-98225200 | Weak transcription | Fetal Intestine Small | intestine |
6 | chr13:98221400-98234200 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
7 | chr13:98221600-98225200 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
8 | chr13:98222000-98223600 | Enhancers | HUES64 Cell Line | embryonic stem cell |
9 | chr13:98222600-98229200 | Weak transcription | HepG2 | liver |
10 | chr13:98223200-98225000 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
11 | chr13:98223200-98225000 | Weak transcription | iPS-20b Cell Line | embryonic stem cell |
12 | chr13:98223200-98225200 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
13 | chr13:98223200-98225200 | Weak transcription | IMR90 fetal lung fibroblasts Cell Line | lung |
14 | chr13:98223200-98225200 | Weak transcription | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
15 | chr13:98223200-98225200 | Weak transcription | Fetal Lung | lung |
16 | chr13:98223200-98225200 | Weak transcription | NHDF-Ad | bronchial |
17 | chr13:98223400-98225200 | Weak transcription | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
18 | chr13:98223400-98225200 | Weak transcription | HUES48 Cell Line | embryonic stem cell |
19 | chr13:98223400-98225200 | Weak transcription | iPS-18 Cell Line | embryonic stem cell |
20 | chr13:98223600-98225000 | Weak transcription | HUES64 Cell Line | embryonic stem cell |
21 | chr13:98223600-98225200 | Weak transcription | HUES6 Cell Line | embryonic stem cell |