Variant report
Variant | esv3415274 |
---|---|
Chromosome Location | chr8:35129148-35129316 |
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 | rs555897042 | chr8:35129176-35129177 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs374863991 | chr8:35129179-35129180 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs61727955 | chr8:35129186-35129187 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs72175357 | chr8:35129199-35129200 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs371227225 | chr8:35129210-35129211 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs55976043 | chr8:35129217-35129218 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs201153532 | chr8:35129222-35129223 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs373419598 | chr8:35129223-35129224 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs28521521 | chr8:35129225-35129226 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs62503919 | chr8:35129227-35129228 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs377424106 | chr8:35129228-35129229 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs375607849 | chr8:35129229-35129230 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs59253719 | chr8:35129231-35129232 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs28495822 | chr8:35129236-35129237 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs546906909 | chr8:35129237-35129238 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs62503920 | chr8:35129239-35129240 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs62503921 | chr8:35129246-35129247 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
18 | rs143824217 | chr8:35129247-35129248 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs4585746 | chr8:35129261-35129262 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
20 | rs141026266 | chr8:35129266-35129267 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs142436169 | chr8:35129267-35129268 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs56114779 | chr8:35129277-35129278 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
23 | rs375604308 | chr8:35129310-35129311 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Salivary gland tumor | 18059337 | CNVD |
Breast cancer | 17133270 | CNVD |
High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
Prostate cancer | 16573809 | CNVD |
Melanoma | 18172304 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Chronic lymphocytic leukemia | 18922857 | CNVD |
Breast cancer | 17393978 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Cancer | 21637783 | CNVD |
Breast cancer | 20837533 | CNVD |
Squamous cell cancer | 21044232 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Cancer | 22429812 | CNVD |
Non-small cell lung cancer | 21044232 | CNVD |
Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Colorectal cancer | 20709793 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Basal cell lymphoma | 21115979 | CNVD |
Breast cancer | 21264507 | CNVD |
Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Oral cancer | 21386901 | CNVD |
Prostate cancer | 21088497 | CNVD |
Prostate cancer | 21965145 | CNVD |
Breast cancer | 20940404 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Embryonal rhabdomyosarcoma | 16790082 | CNVD |
Gastric cancer | 17167181 | CNVD |
Prostate cancer | 16705090 | CNVD |
8p-syndrome | 17576883 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Human rectal carcinomas | 16397240 | CNVD |
Medulloblastoma | 16968546 | CNVD |
Lung adenocarcinoma | 19525976 | CNVD |
Lung cancer | 19525976 | CNVD |
Prostate cancer | 17245344 | CNVD |
Gastrointestinal stromal cancer | 16982739 | CNVD |
Cancer | 16751803 | CNVD |
Wilms tumour | 21544195 | CNVD |
Gastric cancer | 17908304 | 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 |
Acute lymphoblastic leukemia | 21248843 | CNVD |
Breast cancer | 21785460 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Breast cancer | 21509527 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
Prostate cancer | 18632612 | CNVD |
Breast cancer | 21858162 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Liver carcinoma | 19366792 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Seminomas | 18059402 | CNVD |
Lung cancer | 18438408 | CNVD |
Gastrointestinal stromal cancer | 19259404 | CNVD |
Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
Myxofibrosarcoma | 16751306 | CNVD |
Immune disease | 21572526 | CNVD |
Non-small cell lung cancer | 21829676 | CNVD |
Ovarian neoplasms | 16753589 | CNVD |
Kallmann Syndrome 2 | 22470819 | CNVD |
Autism | 22495311 | CNVD |
Acute lymphoblastic leukemia | 21390130 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Pancreatic cancer | 21811587 | CNVD |
Multiple myeloma | 16461302 | CNVD |
Developmental delay | 21373258 | CNVD |
Thyroid cancer | 19087340 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Breast cancer | 17603634 | CNVD |
Pancreatic endocrine tumor | 17639061 | CNVD |
Multiple myeloma | 16616336 | CNVD |
Melanoma | 20688739 | CNVD |
Disorders of sex development | 21048976 | CNVD |
Testicular cancer | 18059402 | CNVD |
Breast cancer | 21806811 | CNVD |
Acute lymphoblastic leukemia | 21339820 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Bladder cancer | 19088036 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Breast cancer | 20459607 | CNVD |
Renal cell carcinoma | 18765545 | CNVD |
Colorectal cancer | 16912164 | CNVD |
Neuroticism | 17667963 | CNVD |
Non-muscle invasive bladder neoplasm | 19445696 | CNVD |
Breast cancer | 17001308 | CNVD |
Breast cancer | 17157792 | CNVD |
Cancer | 17001308 | CNVD |
Cancer | 18840272 | CNVD |
head and neck squamous cell carcinoma | 17671120 | CNVD |
Chordoma | 18071362 | CNVD |
Urothelial carcinoma | 18382360 | CNVD |
Ductal carcinoma | 18381933 | CNVD |
Breast cancer | 21328542 | CNVD |
Squamous cell cancer | 20885788 | CNVD |
Hirschsprung''s Disease | 21712996 | CNVD |
Cutaneous T-cell lymphoma | 21881587 | CNVD |
Intellectual disability | 22045946 | CNVD |
Lung cancer | 17925434 | CNVD |
Uveal melanoma | 20484589 | CNVD |
Breast cancer | 16608533 | CNVD |
Breast cancer | 21364760 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr8:35096000-35135400 | Weak transcription | iPS DF 6.9 Cell Line | embryonic stem cell |
2 | chr8:35116200-35139200 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
3 | chr8:35118200-35133800 | Weak transcription | H9 Cell Line | embryonic stem cell |
4 | chr8:35124400-35129800 | Weak transcription | H1 Cell Line | embryonic stem cell |
5 | chr8:35124400-35135000 | Weak transcription | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
6 | chr8:35124400-35145200 | Weak transcription | Fetal Brain Female | brain |
7 | chr8:35124600-35131800 | Weak transcription | Cortex derived primary cultured neurospheres | brain |
8 | chr8:35124600-35132000 | Weak transcription | HUES64 Cell Line | embryonic stem cell |
9 | chr8:35124600-35134600 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
10 | chr8:35124600-35134800 | Weak transcription | HUES48 Cell Line | embryonic stem cell |
11 | chr8:35124600-35134800 | Weak transcription | iPS-18 Cell Line | embryonic stem cell |
12 | chr8:35124600-35134800 | Weak transcription | iPS-20b Cell Line | embryonic stem cell |
13 | chr8:35124600-35151200 | Weak transcription | HUES6 Cell Line | embryonic stem cell |
14 | chr8:35124800-35135000 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |