Variant report
Variant | esv14784 |
---|---|
Chromosome Location | chr13:96020368-96024016 |
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 |
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr13:96010392..96012474-chr13:96022109..96025076,2 | K562 | blood: |
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 | rs552416698 | chr13:96020398-96020399 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs562884843 | chr13:96020400-96020401 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs531623759 | chr13:96020415-96020416 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs548872702 | chr13:96020416-96020417 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs568772827 | chr13:96020429-96020430 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs534351397 | chr13:96020449-96020450 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs548003844 | chr13:96020464-96020465 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs553273617 | chr13:96020493-96020494 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs9561860 | chr13:96020517-96020518 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
10 | rs539500148 | chr13:96020518-96020519 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs9561861 | chr13:96020522-96020523 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
12 | rs569602627 | chr13:96020571-96020572 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs373468478 | chr13:96020630-96020631 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs12100254 | chr13:96020638-96020639 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
15 | rs180905330 | chr13:96020659-96020660 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs373175777 | chr13:96020668-96020669 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs67064753 | chr13:96020691-96020692 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs202090084 | chr13:96020692-96020693 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs186286650 | chr13:96020715-96020716 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs56271216 | chr13:96020737-96020738 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs33995019 | chr13:96020756-96020757 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs571998312 | chr13:96020789-96020790 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs370296929 | chr13:96020812-96020813 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs2993558 | chr13:96020816-96020817 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
25 | rs72647197 | chr13:96020828-96020829 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs9524944 | chr13:96020864-96020865 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs530205049 | chr13:96020868-96020869 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs540443656 | chr13:96020894-96020895 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs190361384 | chr13:96020896-96020897 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs150224954 | chr13:96020912-96020913 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs531685160 | chr13:96020950-96020951 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs116139841 | chr13:96020999-96021000 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs182547623 | chr13:96021056-96021057 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs560398365 | chr13:96021057-96021058 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs9524945 | chr13:96021079-96021080 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs200719893 | chr13:96021105-96021106 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs562105708 | chr13:96021157-96021158 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs7319175 | chr13:96021183-96021184 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
39 | rs9524946 | chr13:96021185-96021186 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs74106274 | chr13:96021200-96021201 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs552541346 | chr13:96021217-96021218 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs186674747 | chr13:96021264-96021265 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs35211987 | chr13:96021308-96021309 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs368166387 | chr13:96021352-96021353 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs138890305 | chr13:96021357-96021358 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs549799443 | chr13:96021368-96021369 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs548344741 | chr13:96021369-96021370 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs535212264 | chr13:96021407-96021408 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs117963694 | chr13:96021434-96021435 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs116635300 | chr13:96021437-96021438 | 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 |
Metanephric adenoma | 20802469 | 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 |
Omodysplasia | 19481194 | CNVD |
Breast cancer | 22032731 | CNVD |
Rhabdomyosarcoma | 17210683 | CNVD |
Burkitt''s lymphoma | 19759907 | CNVD |
Wilms tumour | 21544195 | CNVD |
Developmental delay | 21147756 | CNVD |
Myelofibrosis | 22110671 | 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 |
Acute myeloid leukemia | 19651601 | CNVD |
Congenital anomalies of the kidney and urinary tract | 20467480 | CNVD |
Esophageal adenocarcinoma | 18820669 | CNVD |
Breast cancer | 22522925 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Intellectual disability | 22102821 | CNVD |
Burkitt''s lymphoma | 20823134 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr13:96019800-96024800 | Weak transcription | Fetal Adrenal Gland | Adrenal Gland |
2 | chr13:96024000-96032600 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |