Variant report
Variant | esv1812735 |
---|---|
Chromosome Location | chr8:113079753-113088154 |
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 | rs190095482 | chr8:113084411-113084412 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs79375567 | chr8:113084518-113084519 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs28441203 | chr8:113084558-113084559 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
4 | rs35667073 | chr8:113084561-113084562 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs183605279 | chr8:113084650-113084651 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs375789955 | chr8:113084654-113084655 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs541716217 | chr8:113084699-113084700 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs187002623 | chr8:113084708-113084709 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs571892014 | chr8:113084743-113084744 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs540355818 | chr8:113084778-113084779 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs540793172 | chr8:113086005-113086006 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
12 | rs567011869 | chr8:113086042-113086043 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
13 | rs187751179 | chr8:113086068-113086069 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
14 | rs13260037 | chr8:113086092-113086093 | Enhancers Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
15 | rs142217044 | chr8:113086095-113086096 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
16 | rs145810630 | chr8:113086145-113086146 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
17 | rs34773793 | chr8:113086259-113086260 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
18 | rs562789674 | chr8:113086269-113086270 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
19 | rs73335206 | chr8:113086274-113086275 | Enhancers Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
20 | rs562936448 | chr8:113086326-113086327 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
21 | rs531715612 | chr8:113086338-113086339 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
22 | rs201351626 | chr8:113086345-113086346 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
23 | rs575537062 | chr8:113086346-113086347 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
24 | rs544564230 | chr8:113086367-113086368 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
25 | rs138401319 | chr8:113086414-113086415 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs558054198 | chr8:113086478-113086479 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs562337457 | chr8:113086486-113086487 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs371592527 | chr8:113086504-113086505 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs576651871 | chr8:113086509-113086510 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs547966244 | chr8:113086531-113086532 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs570952031 | chr8:113086535-113086536 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs142878996 | chr8:113086614-113086615 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs549592369 | chr8:113086675-113086676 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs73705777 | chr8:113086685-113086686 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
35 | rs535055156 | chr8:113086691-113086692 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs548880436 | chr8:113086726-113086727 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs146091826 | chr8:113086870-113086871 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs534510767 | chr8:113086879-113086880 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs367753779 | chr8:113086918-113086919 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs191551593 | chr8:113086975-113086976 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs540433793 | chr8:113086988-113086989 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs577748136 | chr8:113087002-113087003 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs149353582 | chr8:113087056-113087057 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs182176202 | chr8:113087124-113087125 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs114105763 | chr8:113087162-113087163 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs542207653 | chr8:113087176-113087177 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs562373821 | chr8:113087225-113087226 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs572825716 | chr8:113087248-113087249 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs541350204 | chr8:113087288-113087289 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs529028126 | chr8:113087293-113087294 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
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 |
Gastric cancer | 17908304 | CNVD |
Acute promyelocytic leukemia | 19109227 | CNVD |
Breast cancer | 21245420 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Liver carcinoma | 19366792 | CNVD |
Seminomas | 18059402 | CNVD |
Acute lymphoblastic leukemia | 21390130 | CNVD |
Pancreatic cancer | 21811587 | CNVD |
Thyroid cancer | 19087340 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Breast cancer | 17603634 | CNVD |
Testicular cancer | 18059402 | 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 |
abnormal development | 18461090 | 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 |
Glioblastoma multiforme | 21080181 | 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 |
Cancer | 16751803 | 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 |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Lung cancer | 18438408 | CNVD |
Breast cancer | 16608533 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Hepatocellular carcinoma | 18803288 | CNVD |
Prostate cancer | 18632612 | CNVD |
Ovarian cancer | 22174824 | CNVD |
Prostate cancer | 16573809 | CNVD |
Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
Adenocarcinoma | 21044232 | CNVD |
Squamous cell cancer | 20885788 | CNVD |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
Prostate cancer | 16461572 | CNVD |
Breast cancer | 21399628 | CNVD |
High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
Acute lymphoblastic leukemia | 17690704 | CNVD |
Breast cancer | 17393978 | CNVD |
Burkitt''s lymphoma | 18698080 | CNVD |
Non-syndromic sensorineural hearing loss | 20606397 | CNVD |
Breast cancer | 17899364 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Colorectal cancer | 16774939 | CNVD |
Autosomal-dominant progressive external ophthalmoplegia | 19664747 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Congenital diaphragmatic hernia | 21085971 | CNVD |
Sezary syndrome | 18413736 | CNVD |
Breast cancer | 21611746 | CNVD |
Developmental delay | 21147756 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Congenital diaphragmatic hernia | 21525063 | CNVD |
Non-small cell lung cancer | 19010865 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Chronic myeloid leukemia | 21384125 | CNVD |
Breast cancer | 21364760 | CNVD |
Neuroticism | 17667963 | CNVD |
Papillary thyroid cancer | 17515504 | CNVD |
Basal cell lymphoma | 17053054 | CNVD |
Schizophrenia | 20967226 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr8:113084400-113084800 | Enhancers | HUES48 Cell Line | embryonic stem cell |
2 | chr8:113086000-113086200 | Enhancers | Gastric | stomach |
3 | chr8:113086000-113086400 | Enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |
4 | chr8:113086000-113086400 | Active TSS | Skeletal Muscle Male | skeletal muscle |
5 | chr8:113086400-113095200 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
6 | chr8:113086600-113087400 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
7 | chr8:113087400-113087600 | Strong transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
8 | chr8:113087600-113087800 | ZNF genes & repeats | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
9 | chr8:113087800-113088000 | Strong transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
10 | chr8:113088000-113089600 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |