Variant report
Variant | esv3338533 |
---|---|
Chromosome Location | chr8:60564648-60566046 |
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 | rs540114497 | chr8:60564677-60564678 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs188643812 | chr8:60564714-60564715 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs576885285 | chr8:60564758-60564759 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs528683673 | chr8:60564772-60564773 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs12543325 | chr8:60564806-60564807 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
6 | rs181476393 | chr8:60564813-60564814 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs559405347 | chr8:60564830-60564831 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs7814268 | chr8:60564848-60564849 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
9 | rs530490589 | chr8:60564849-60564850 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs572802960 | chr8:60564870-60564871 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs538631758 | chr8:60564930-60564931 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs557072865 | chr8:60564931-60564932 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs12548269 | chr8:60564973-60564974 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs12541006 | chr8:60564975-60564976 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs569288060 | chr8:60564980-60564981 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs60749554 | chr8:60565001-60565002 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs7832822 | chr8:60565013-60565014 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs7814444 | chr8:60565014-60565015 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs182132828 | chr8:60565027-60565028 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs536456345 | chr8:60565028-60565029 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs35048286 | chr8:60565036-60565037 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs555111572 | chr8:60565037-60565038 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs185920146 | chr8:60565049-60565050 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs59090496 | chr8:60565060-60565061 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs7832950 | chr8:60565061-60565062 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs7814579 | chr8:60565062-60565063 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs61164095 | chr8:60565083-60565084 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs190840176 | chr8:60565084-60565085 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs5008399 | chr8:60565105-60565106 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
30 | rs185644422 | chr8:60565107-60565108 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs530658282 | chr8:60565108-60565109 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs573481461 | chr8:60565122-60565123 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs59725962 | chr8:60565130-60565131 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs372726413 | chr8:60565132-60565133 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs12548340 | chr8:60565149-60565150 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs56402936 | chr8:60565156-60565157 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs190408563 | chr8:60565166-60565167 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs540957375 | chr8:60565170-60565171 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs58191955 | chr8:60565172-60565173 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs564069998 | chr8:60565180-60565181 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs56270803 | chr8:60565203-60565204 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs528454345 | chr8:60565359-60565360 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs201135939 | chr8:60565377-60565378 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs59309704 | chr8:60565422-60565423 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs568116262 | chr8:60565473-60565474 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs567105761 | chr8:60565479-60565480 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs199636683 | chr8:60565503-60565504 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs535514525 | chr8:60565516-60565517 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs536596306 | chr8:60565527-60565528 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs550834236 | chr8:60565536-60565537 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Cancer | 16751803 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Wilms tumour | 21544195 | CNVD |
Gastric cancer | 17908304 | CNVD |
Melanoma | 18172304 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Autism | 19415332 | CNVD |
Malaria | 21533027 | CNVD |
Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
Esophageal cancer | 21851588 | CNVD |
Acute promyelocytic leukemia | 19109227 | CNVD |
Breast cancer | 21245420 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Liver carcinoma | 19366792 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Seminomas | 18059402 | CNVD |
Autism | 22495311 | CNVD |
Acute lymphoblastic leukemia | 21390130 | CNVD |
Pancreatic cancer | 21811587 | CNVD |
Thyroid cancer | 19087340 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Breast cancer | 17603634 | CNVD |
Disorders of sex development | 21048976 | CNVD |
Testicular cancer | 18059402 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Salivary gland tumor | 18059337 | CNVD |
Breast cancer | 17133270 | CNVD |
Breast cancer | 21509527 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Breast cancer | 21858162 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Acute lymphoblastic leukemia | 21248843 | CNVD |
Cancer | 20164919 | CNVD |
primary effusion lymphomas | 17116491 | CNVD |
Esophageal cancer | 20955586 | CNVD |
Multiple myeloma | 16461302 | CNVD |
abnormal development | 18461090 | CNVD |
Cancer | 20164920 | CNVD |
Oral cancer | 21386901 | CNVD |
Uveal melanoma | 21693616 | CNVD |
Langer-Giedion syndrome | 22283845 | CNVD |
Cancer | 21637783 | CNVD |
Splenic marginal zone lymphoma | 21957467 | CNVD |
Breast cancer | 20632083 | CNVD |
Breast cancer | 19602461 | CNVD |
Cancer | 22429812 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Oral cancer | 19627613 | CNVD |
Prostate cancer | 21088497 | CNVD |
colon cancer | 17210682 | CNVD |
Breast cancer | 21264507 | CNVD |
Breast cancer | 22028636 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Esophageal squamous carcinoma | 18350619 | CNVD |
Gastric cancer | 17167181 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Breast cancer | 16461572 | CNVD |
Human rectal carcinomas | 16397240 | CNVD |
Medulloblastoma | 16968546 | CNVD |
head and neck squamous cell carcinoma | 18028549 | CNVD |
Breast cancer | 17001317 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Lung cancer | 18438408 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
Prostate cancer | 16461572 | CNVD |
Breast cancer | 16608533 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Hepatocellular carcinoma | 18803288 | CNVD |
Prostate cancer | 18632612 | CNVD |
Glioblastoma multiforme | 18628472 | CNVD |
Ovarian cancer | 22174824 | CNVD |
Prostate cancer | 16573809 | CNVD |
Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
Colorectal cancer | 21645411 | CNVD |
Melanoma | 22183965 | CNVD |
Cancer | 21949371 | CNVD |
Non-small cell lung cancer | 21829676 | CNVD |
Myeloproliferative neoplasm | 20015882 | CNVD |
Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
Acute myeloid leukemia | 21358987 | CNVD |
Adenocarcinoma | 21044232 | CNVD |
Squamous cell cancer | 20885788 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr8:60564400-60569800 | Weak transcription | Pancreatic Islets | Pancreatic Islet |
2 | chr8:60564600-60565600 | Weak transcription | Primary T helper memory cells from peripheral blood 1 | blood |
3 | chr8:60565800-60566000 | ZNF genes & repeats | Primary T helper memory cells from peripheral blood 1 | blood |