Variant report
Variant | esv3412414 |
---|---|
Chromosome Location | chr6:167233962-167237660 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:5)
- LncRNA region (count:1)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr6:167232177..167234702-chr6:167235338..167237852,2 | K562 | blood: | |
2 | chr6:167234151..167235885-chr6:167241479..167243381,2 | K562 | blood: | |
3 | chr6:167234510..167236019-chr6:167237889..167239702,2 | MCF-7 | breast: | |
4 | chr6:166870182..166872414-chr6:167234943..167236564,2 | K562 | blood: | |
5 | chr6:167232177..167234702-chr6:167235338..167237852,2 | K562 | blood: |
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-FGFR1OP-11 | chr6:167237176-167237266 | NONHSAT116055 |
No data |
No data |
No data |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs199972313 | chr6:167233966-167233967 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs200949211 | chr6:167233967-167233968 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs78895381 | chr6:167234005-167234006 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs2734344 | chr6:167234027-167234028 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
5 | rs188977104 | chr6:167234046-167234047 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs141988150 | chr6:167234073-167234074 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs529118311 | chr6:167234109-167234110 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs9355595 | chr6:167234182-167234183 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
9 | rs568539164 | chr6:167234287-167234288 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs539042227 | chr6:167234289-167234290 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs16899540 | chr6:167234330-167234331 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
12 | rs561704985 | chr6:167234352-167234353 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs566519211 | chr6:167234376-167234377 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs375857695 | chr6:167234385-167234386 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs9355596 | chr6:167234405-167234406 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
16 | rs547558565 | chr6:167234420-167234421 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs566094830 | chr6:167234433-167234434 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs555898784 | chr6:167234448-167234449 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs145635581 | chr6:167234517-167234518 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs544951632 | chr6:167234524-167234525 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs9355597 | chr6:167234577-167234578 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
22 | rs373331956 | chr6:167234587-167234588 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs538891033 | chr6:167234593-167234594 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs16899547 | chr6:167234596-167234597 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
25 | rs182423871 | chr6:167234609-167234610 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs186319581 | chr6:167234646-167234647 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs540069317 | chr6:167234693-167234694 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs138662863 | chr6:167234734-167234735 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs190719143 | chr6:167234736-167234737 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs550507767 | chr6:167234743-167234744 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs149319419 | chr6:167234776-167234777 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs532772257 | chr6:167234824-167234825 | Flanking Bivalent TSS/Enh Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs16899551 | chr6:167234870-167234871 | Flanking Bivalent TSS/Enh Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
34 | rs566464228 | chr6:167234885-167234886 | Flanking Bivalent TSS/Enh Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs551696153 | chr6:167234915-167234916 | Flanking Bivalent TSS/Enh Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs370886065 | chr6:167234944-167234945 | Flanking Bivalent TSS/Enh Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs181687348 | chr6:167234963-167234964 | Flanking Bivalent TSS/Enh Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs533925248 | chr6:167234965-167234966 | Flanking Bivalent TSS/Enh Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs372546320 | chr6:167234978-167234979 | Flanking Bivalent TSS/Enh Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs73037491 | chr6:167234983-167234984 | Flanking Bivalent TSS/Enh Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs1099661 | chr6:167234990-167234991 | Flanking Bivalent TSS/Enh Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
42 | rs370637971 | chr6:167234999-167235000 | Flanking Bivalent TSS/Enh Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs113900312 | chr6:167235032-167235033 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
44 | rs547557876 | chr6:167235044-167235045 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
45 | rs554102801 | chr6:167235141-167235142 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
46 | rs117168438 | chr6:167235151-167235152 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
47 | rs2242573 | chr6:167235233-167235234 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
48 | rs148026474 | chr6:167235237-167235238 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs2242574 | chr6:167235286-167235287 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
50 | rs543960463 | chr6:167235466-167235467 | Enhancers Weak transcription Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Uveal melanoma | 21693616 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Biliary cancer | 19435499 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Malaria | 21533027 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Biliary cancer | 20360734 | CNVD |
Breast cancer | 20360734 | CNVD |
Coronary artery disease | 20360734 | CNVD |
Crohn''s disease | 20360734 | CNVD |
Hypertension | 20360734 | CNVD |
Rheumatoid arthritis | 20360734 | CNVD |
Type 1 diabetes | 20360734 | CNVD |
Type 2 diabetes | 20360734 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Neuroblastoma | 18923191 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Melanoma | 18172304 | CNVD |
Cancer | 21637783 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Follicular lymphoma | 19010834 | CNVD |
Non-small cell lung cancer | 21044232 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Breast cancer | 21264507 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Phyllodes tumor | 17334353 | CNVD |
Breast cancer | 16608533 | CNVD |
Non-small cell lung cancer | 21385341 | CNVD |
Prostate cancer | 16705090 | CNVD |
Adenoid cystic carcinoma | 17372589 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Ependymoma | 16718352 | CNVD |
Gastric cancer | 17908304 | CNVD |
High-proliferative meningiomas | 17937814 | CNVD |
Intracranial tumor | 16823260 | CNVD |
Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Breast cancer | 16272173 | CNVD |
Wilms tumour | 21544195 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Congenital diaphragmatic hernia | 21085971 | CNVD |
Malignant melanoma | 18718029 | CNVD |
Acute lymphoblastic leukemia | 17690704 | CNVD |
Breast cancer | 21858162 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Breast cancer | 17603634 | CNVD |
Developmental delay | 19490664 | CNVD |
Burkitt''s lymphoma | 18698080 | CNVD |
Neurodevelopmental disorder | 22521361 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Adenoid cystic carcinoma | 18698036 | CNVD |
head and neck squamous cell carcinoma | 17671120 | CNVD |
Leukemia | 18688285 | CNVD |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
Prostate cancer | 18632612 | CNVD |
Lung cancer | 18438408 | CNVD |
Burkitt''s lymphoma | 19759907 | CNVD |
Esophageal cancer | 21851588 | CNVD |
T-cell acute lymphoblastic leukemia | 18185524 | CNVD |
Breast cancer | 17133270 | CNVD |
Testicular germ cell tumor | 18059402 | CNVD |
Developmental delay | 21147756 | CNVD |
Chordoma | 18071362 | CNVD |
Glioblastoma multiforme | 19435819 | CNVD |
Ovarian cancer | 21720365 | CNVD |
abnormal development | 18461090 | CNVD |
Epilepsy | 22083797 | CNVD |
Myelofibrosis | 22110671 | CNVD |
chordoma | 19801981 | CNVD |
Myxofibrosarcoma | 16751306 | CNVD |
Autism | 17483303 | CNVD |
Acute lymphoblastic leukemia | 21098271 | CNVD |
Acute myeloid leukemia | 19651601 | CNVD |
Sudden cardiac death | 19188705 | CNVD |
Myofibroblastic sarcoma | 19369631 | CNVD |
Acute lymphoblastic leukemia | 18458336 | CNVD |
Autism | 22549408 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr6:167221800-167244400 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
2 | chr6:167234800-167235000 | Flanking Bivalent TSS/Enh | H1 Derived Mesenchymal Stem Cells | ES cell derived |
3 | chr6:167235000-167235600 | Enhancers | Brain Anterior Caudate | brain |
4 | chr6:167235200-167235600 | Enhancers | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
5 | chr6:167235400-167235800 | Bivalent Enhancer | Fetal Muscle Leg | muscle |
6 | chr6:167235400-167236400 | Enhancers | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
7 | chr6:167235600-167239000 | Weak transcription | Brain Anterior Caudate | brain |