Variant report
Variant | esv3421177 |
---|---|
Chromosome Location | chr8:35104310-35107108 |
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 | rs190883762 | chr8:35104379-35104380 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs563287183 | chr8:35104393-35104394 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs183391154 | chr8:35104441-35104442 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs530715509 | chr8:35104452-35104453 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs374527826 | chr8:35104468-35104469 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs571926818 | chr8:35104475-35104476 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs369771268 | chr8:35104494-35104495 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs76842039 | chr8:35104511-35104512 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs150224010 | chr8:35104516-35104517 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs560823440 | chr8:35104523-35104524 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs531396887 | chr8:35104524-35104525 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs1554859 | chr8:35104545-35104546 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
13 | rs138789429 | chr8:35104546-35104547 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs532124864 | chr8:35104579-35104580 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs548145204 | chr8:35104642-35104643 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs187411351 | chr8:35104699-35104700 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs536840139 | chr8:35104714-35104715 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs548719653 | chr8:35104733-35104734 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs200972684 | chr8:35104752-35104753 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs386412550 | chr8:35104753-35104754 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs372813599 | chr8:35104754-35104755 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs370109095 | chr8:35104755-35104756 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs201120885 | chr8:35104756-35104757 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs202207517 | chr8:35104757-35104758 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs200539391 | chr8:35104758-35104759 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs5890801 | chr8:35104795-35104796 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs77983265 | chr8:35104806-35104807 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs62503913 | chr8:35104808-35104809 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs570139277 | chr8:35104863-35104864 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs142259936 | chr8:35104895-35104896 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs558760227 | chr8:35104916-35104917 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs576859687 | chr8:35104929-35104930 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs11781624 | chr8:35104953-35104954 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
34 | rs553673528 | chr8:35104967-35104968 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs372441372 | chr8:35105015-35105016 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs542466495 | chr8:35105032-35105033 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs561178503 | chr8:35105036-35105037 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs145874181 | chr8:35105038-35105039 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs62503914 | chr8:35105040-35105041 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs10105122 | chr8:35105042-35105043 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs532163785 | chr8:35105044-35105045 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs112383675 | chr8:35105086-35105087 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs540977973 | chr8:35105091-35105092 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs562119577 | chr8:35105097-35105098 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs13260977 | chr8:35105155-35105156 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs11778552 | chr8:35105190-35105191 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs10105246 | chr8:35105192-35105193 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs11778557 | chr8:35105225-35105226 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs11779270 | chr8:35105260-35105261 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs530456087 | chr8:35105284-35105285 | 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 | chr8:35096400-35117400 | Weak transcription | HUES6 Cell Line | embryonic stem cell |
3 | chr8:35097200-35108400 | Weak transcription | iPS-18 Cell Line | embryonic stem cell |
4 | chr8:35097600-35124000 | Weak transcription | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
5 | chr8:35098800-35117600 | Weak transcription | H1 Cell Line | embryonic stem cell |
6 | chr8:35100800-35123800 | Weak transcription | Fetal Brain Female | brain |
7 | chr8:35101200-35107200 | Weak transcription | HUES64 Cell Line | embryonic stem cell |
8 | chr8:35101200-35111400 | Weak transcription | HUES48 Cell Line | embryonic stem cell |
9 | chr8:35101200-35116600 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
10 | chr8:35101200-35120200 | Weak transcription | iPS-15b Cell Line | embryonic stem cell |
11 | chr8:35101400-35108200 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
12 | chr8:35101400-35111400 | Weak transcription | iPS-20b Cell Line | embryonic stem cell |
13 | chr8:35103800-35116400 | Weak transcription | Cortex derived primary cultured neurospheres | brain |
14 | chr8:35104000-35104600 | Enhancers | H9 Cell Line | embryonic stem cell |
15 | chr8:35104200-35104400 | Enhancers | Ganglion Eminence derived primary cultured neurospheres | brain |
16 | chr8:35104400-35124000 | Weak transcription | Ganglion Eminence derived primary cultured neurospheres | brain |
17 | chr8:35104600-35117600 | Weak transcription | H9 Cell Line | embryonic stem cell |