Variant report
Variant | esv2422062 |
---|---|
Chromosome Location | chr7:125472699-125476043 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- 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 | chr7:125459178..125461778-chr7:125471242..125473065,2 | K562 | blood: |
No data |
No data |
No data |
No data |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs1419599 | chr7:125472699-125472700 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
2 | rs368199608 | chr7:125472762-125472763 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs555631791 | chr7:125472786-125472787 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs543827853 | chr7:125472789-125472790 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs562525258 | chr7:125472823-125472824 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs577624723 | chr7:125472850-125472851 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs79358480 | chr7:125472882-125472883 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs144355825 | chr7:125472902-125472903 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs560384665 | chr7:125472909-125472910 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs71688425 | chr7:125472911-125472912 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs527509694 | chr7:125472949-125472950 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs549281032 | chr7:125472970-125472971 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs7458756 | chr7:125472977-125472978 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs144618617 | chr7:125473005-125473006 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs199562207 | chr7:125473053-125473054 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs71756574 | chr7:125473055-125473056 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs201560080 | chr7:125473058-125473059 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs199625566 | chr7:125473059-125473060 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs531653375 | chr7:125473069-125473070 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs117498565 | chr7:125473073-125473074 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs571627904 | chr7:125473085-125473086 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs538750250 | chr7:125473100-125473101 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs544545717 | chr7:125473118-125473119 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs539515870 | chr7:125473124-125473125 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs114269095 | chr7:125473145-125473146 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs565915347 | chr7:125473147-125473148 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs536483985 | chr7:125473250-125473251 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs554758467 | chr7:125473251-125473252 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs113056438 | chr7:125473275-125473276 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs188681819 | chr7:125473295-125473296 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs35159303 | chr7:125473316-125473317 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs200036635 | chr7:125473324-125473325 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs386717554 | chr7:125473328-125473329 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs180882715 | chr7:125473329-125473330 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs143727202 | chr7:125473340-125473341 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs544533737 | chr7:125473343-125473344 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs10215348 | chr7:125473352-125473353 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
38 | rs572184266 | chr7:125473363-125473364 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs542812941 | chr7:125473392-125473393 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs78775661 | chr7:125473405-125473406 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs185266210 | chr7:125473414-125473415 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs112962334 | chr7:125473423-125473424 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs565135057 | chr7:125473437-125473438 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs532569528 | chr7:125473461-125473462 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs142878169 | chr7:125473477-125473478 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs188177076 | chr7:125473537-125473538 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs386717555 | chr7:125473561-125473562 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs10215755 | chr7:125473574-125473575 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
49 | rs377202421 | chr7:125473579-125473580 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs531200716 | chr7:125473634-125473635 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Esophageal squamous carcinoma | 21637470 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Thyroid cancer | 19087340 | CNVD |
Seminomas | 18059402 | CNVD |
Testicular cancer | 18059402 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Autism | 19415332 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Pleomorphic xanthoastrocytoma | 20730472 | CNVD |
T-cell lymphomas | 19863542 | CNVD |
Malaria | 21533027 | CNVD |
Melanoma | 18172304 | CNVD |
Renal cell carcinoma | 19461508 | CNVD |
head and neck squamous cell carcinoma | 19289630 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Autism | 22495311 | CNVD |
Wilms tumour | 21544195 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Squamous cell cancer | 21044232 | CNVD |
Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
Astrocytoma | 17387387 | CNVD |
Glioblastoma multiforme | 17387387 | CNVD |
Low-grade fibromyxoid sarcoma | 0 | CNVD |
Oligodendroglial tumors | 17285580 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Burkitt''s lymphoma | 18698080 | CNVD |
Breast cancer | 21264507 | CNVD |
Shwachman-Diamond syndrome | 22934832 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Cutaneous malignant melanoma | 17690212 | CNVD |
Leukemia | 17361228 | CNVD |
Breast cancer | 16461572 | CNVD |
Peripheral t-cell lymphoma | 19118030 | CNVD |
Malignant melanoma | 17690212 | CNVD |
Renal cell carcinoma | 18592004 | CNVD |
Acute promyelocytic leukemia | 19109227 | CNVD |
Multiple myeloma | 17550852 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Neurodevelopmental disorder | 22521361 | CNVD |
abortions and stillbirths | 19751515 | CNVD |
Acute lymphoblastic leukemia | 21980252 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Lung cancer | 18438408 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Non-syndromic sensorineural hearing loss | 21987784 | CNVD |
Burkitt''s lymphoma | 19759907 | CNVD |
Chronic myeloid leukemia | 21384125 | CNVD |
Breast cancer | 21858162 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
Prostate cancer | 16573809 | CNVD |
Medulloblastoma | 16783165 | CNVD |
Biliary cancer | 19435499 | CNVD |
Non-small cell lung cancer | 21829676 | CNVD |
Ovarian neoplasms | 16753589 | CNVD |
Prostate cancer | 23792589 | CNVD |
Adenocarcinoma | 21044232 | CNVD |
Splenic marginal zone lymphoma | 21957467 | CNVD |
Non-small cell lung cancer | 19889201 | CNVD |
Acute myeloid leukemia | 18000384 | CNVD |
Esophageal adenocarcinoma | 18820669 | CNVD |
Metastatic melanoma | 18483359 | CNVD |
Autism | 18414403 | CNVD |
Autism | 19401682 | CNVD |
Autism | 19546859 | CNVD |
Schizophrenia | 19546859 | CNVD |
Tourette syndrome | 19546859 | CNVD |
Melanoma | 19188590 | CNVD |
Hepatocellular carcinoma | 16785998 | CNVD |
Glioblastoma multiforme | 18628472 | CNVD |
Basal cell lymphoma | 21115979 | CNVD |
Breast cancer | 21509527 | CNVD |
low-grade B-cell lymphoma tumor | 18367492 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Epilepsy | 21635232 | CNVD |
Squamous cell cancer | 20885788 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Diffuse large b-cell lymphoma | 18287131 | CNVD |
abnormal development | 18461090 | CNVD |
T-cell acute lymphoblastic leukemia | 18185524 | CNVD |
Autism | 20858243 | CNVD |
Autism | 20808228 | CNVD |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr7:125472600-125481800 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
2 | chr7:125474000-125474800 | Enhancers | Cortex derived primary cultured neurospheres | brain |