Variant report
Variant | esv2484852 |
---|---|
Chromosome Location | chr8:63214789-63225986 |
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 | rs567629927 | chr8:63214807-63214808 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs116374155 | chr8:63214812-63214813 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs376243383 | chr8:63214832-63214833 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs189170792 | chr8:63214848-63214849 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs57369766 | chr8:63214884-63214885 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
6 | rs56108587 | chr8:63214917-63214918 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
7 | rs149626523 | chr8:63214926-63214927 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs560240847 | chr8:63214931-63214932 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs527384374 | chr8:63214935-63214936 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs548577714 | chr8:63215031-63215032 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs557850523 | chr8:63215137-63215138 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs566873790 | chr8:63215150-63215151 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs576054949 | chr8:63215154-63215155 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs543438911 | chr8:63215175-63215176 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs559302252 | chr8:63215225-63215226 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs561707633 | chr8:63215229-63215230 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs538167342 | chr8:63215311-63215312 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs550024814 | chr8:63215314-63215315 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs182055079 | chr8:63215319-63215320 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs113922714 | chr8:63215332-63215333 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs192342223 | chr8:63215393-63215394 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs73256771 | chr8:63215406-63215407 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs144282052 | chr8:63215411-63215412 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs148334318 | chr8:63215428-63215429 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs555026102 | chr8:63215429-63215430 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs576471979 | chr8:63215465-63215466 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs12544342 | chr8:63215615-63215616 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
28 | rs183655264 | chr8:63215716-63215717 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs577856107 | chr8:63215722-63215723 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs554014740 | chr8:63215724-63215725 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs375686566 | chr8:63215818-63215819 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs545228003 | chr8:63215837-63215838 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs34677168 | chr8:63215874-63215875 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs142473309 | chr8:63215885-63215886 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs78146466 | chr8:63215896-63215897 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs76880132 | chr8:63215926-63215927 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs548638498 | chr8:63215932-63215933 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
38 | rs139955260 | chr8:63215940-63215941 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
39 | rs201075407 | chr8:63215959-63215960 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
40 | rs555850628 | chr8:63216022-63216023 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
41 | rs374702252 | chr8:63216024-63216025 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
42 | rs371694552 | chr8:63216133-63216134 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
43 | rs143498084 | chr8:63216151-63216152 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
44 | rs11996393 | chr8:63216178-63216179 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
45 | rs538924629 | chr8:63216188-63216189 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
46 | rs139146636 | chr8:63216220-63216221 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs575685444 | chr8:63216250-63216251 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs566114291 | chr8:63216310-63216311 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs201257571 | chr8:63216337-63216338 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs200330813 | chr8:63216342-63216343 | 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 |
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 |
Salivary gland tumor | 18059337 | 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 |
Lung cancer | 18438408 | CNVD |
Acute myeloid leukemia | 21251322 | 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 |
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 |
Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
Adenocarcinoma | 21044232 | CNVD |
Squamous cell cancer | 20885788 | CNVD |
low-grade B-cell lymphoma tumor | 18367492 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Sezary syndrome | 18413736 | CNVD |
Colorectal cancer | 21645411 | CNVD |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr8:63212400-63216200 | Enhancers | Cortex derived primary cultured neurospheres | brain |
2 | chr8:63214000-63215000 | Enhancers | Brain Germinal Matrix | brain |
3 | chr8:63214400-63216200 | Enhancers | Fetal Brain Female | brain |
4 | chr8:63214600-63215800 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
5 | chr8:63215000-63216000 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
6 | chr8:63215200-63215800 | Enhancers | HUES6 Cell Line | embryonic stem cell |
7 | chr8:63215200-63216000 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
8 | chr8:63215200-63216000 | Enhancers | HUES64 Cell Line | embryonic stem cell |
9 | chr8:63215400-63215800 | Enhancers | HUES48 Cell Line | embryonic stem cell |
10 | chr8:63215400-63216000 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
11 | chr8:63215600-63216000 | Enhancers | ES-WA7 Cell Line | embryonic stem cell |
12 | chr8:63216000-63217200 | Weak transcription | iPS-15b Cell Line | embryonic stem cell |
13 | chr8:63217400-63217600 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
14 | chr8:63219200-63219600 | Enhancers | HSMM | muscle |
15 | chr8:63225200-63225600 | Enhancers | Cortex derived primary cultured neurospheres | brain |
16 | chr8:63225200-63227000 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
17 | chr8:63225600-63234400 | Weak transcription | Cortex derived primary cultured neurospheres | brain |