Variant report
Variant | esv2762693 |
---|---|
Chromosome Location | chr7:110178548-110180768 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:8)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:8 , 50 per page) page:
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No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | CEBPB | chr7:110179284-110179632 | IMR90 | lung: | n/a | n/a |
2 | FOS | chr7:110179387-110180272 | MCF10A-Er-Src | breast: | n/a | n/a |
3 | FOS | chr7:110179952-110180212 | MCF10A-Er-Src | breast: | n/a | n/a |
4 | FOS | chr7:110179947-110180246 | MCF10A-Er-Src | breast: | n/a | n/a |
5 | FOS | chr7:110179940-110180211 | MCF10A-Er-Src | breast: | n/a | n/a |
6 | GATA3 | chr7:110180052-110180090 | SH-SY5Y | brain: | n/a | n/a |
7 | KAP1 | chr7:110179951-110180151 | K562 | blood: | n/a | n/a |
8 | RFX5 | chr7:110180194-110180235 | K562 | blood: | n/a | n/a |
No data |
(count:1 , 50 per page) page:
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr7:110177934..110179982-chr7:110181081..110183744,2 | K562 | blood: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000226965 | TF binding region |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs10808165 | chr7:110178548-110178549 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
2 | rs192911137 | chr7:110178571-110178572 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs555040959 | chr7:110178577-110178578 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs575240926 | chr7:110178579-110178580 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs145120195 | chr7:110178683-110178684 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs146840351 | chr7:110178695-110178696 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs377328943 | chr7:110178704-110178705 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs184569719 | chr7:110178759-110178760 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs543998426 | chr7:110178825-110178826 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs73717109 | chr7:110178860-110178861 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
11 | rs73431230 | chr7:110178893-110178894 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
12 | rs540534649 | chr7:110178925-110178926 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs2966422 | chr7:110178950-110178951 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
14 | rs528581967 | chr7:110178971-110178972 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs548694138 | chr7:110178977-110178978 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs542470071 | chr7:110179040-110179041 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs530977547 | chr7:110179047-110179048 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs143812332 | chr7:110179052-110179053 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs563076970 | chr7:110179055-110179056 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs368322478 | chr7:110179056-110179057 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs568087500 | chr7:110179072-110179073 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs539210190 | chr7:110179098-110179099 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs575730679 | chr7:110179157-110179158 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs75998582 | chr7:110179159-110179160 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs535412939 | chr7:110179198-110179199 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs553526708 | chr7:110179256-110179257 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs566355521 | chr7:110179273-110179274 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs545481668 | chr7:110179334-110179335 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
29 | rs189900810 | chr7:110179359-110179360 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
30 | rs562613991 | chr7:110179461-110179462 | Weak transcription Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
31 | rs555478700 | chr7:110179549-110179550 | Weak transcription Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
32 | rs573196253 | chr7:110179554-110179555 | Weak transcription Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
33 | rs192843969 | chr7:110179622-110179623 | Weak transcription Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
34 | rs557343933 | chr7:110179640-110179641 | Weak transcription Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
35 | rs28478997 | chr7:110179657-110179658 | Weak transcription Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
36 | rs13244511 | chr7:110179658-110179659 | Weak transcription Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
37 | rs148098819 | chr7:110179680-110179681 | Weak transcription Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
38 | rs2966423 | chr7:110179690-110179691 | Weak transcription Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
39 | rs184632538 | chr7:110179707-110179708 | Weak transcription Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
40 | rs55735006 | chr7:110179790-110179791 | Weak transcription Enhancers | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
41 | rs541950656 | chr7:110179846-110179847 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
42 | rs56407337 | chr7:110179847-110179848 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
43 | rs530767994 | chr7:110179859-110179860 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
44 | rs563820137 | chr7:110179890-110179891 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
45 | rs562979185 | chr7:110179917-110179918 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
46 | rs189394470 | chr7:110179960-110179961 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
47 | rs73431235 | chr7:110179972-110179973 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
48 | rs542199025 | chr7:110180000-110180001 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
49 | rs76855997 | chr7:110180059-110180060 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
50 | rs547298582 | chr7:110180114-110180115 | Weak transcription Enhancers | 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 |
Acute myeloid leukemia | 16864856 | 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 |
Myelodysplastic syndrome | 21251322 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
Breast cancer | 21785460 | CNVD |
Chronic myeloid leukemia | 21384125 | CNVD |
Breast cancer | 21858162 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Breast cancer | 21364760 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Basal cell lymphoma | 17053054 | CNVD |
Prostate cancer | 16573809 | CNVD |
Medulloblastoma | 16783165 | CNVD |
Melanoma | 17363583 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Squamous cell cancer | 20885788 | CNVD |
T-cell acute lymphoblastic leukemia | 19406988 | CNVD |
Breast cancer | 16397240 | 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 |
Autism | 19401682 | 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 | 19546859 | CNVD |
Schizophrenia | 19546859 | CNVD |
Tourette syndrome | 19546859 | CNVD |
Melanoma | 19188590 | CNVD |
small cell lung cancer | 20016488 | CNVD |
low-grade B-cell lymphoma tumor | 18367492 | CNVD |
T-cell lymphomas | 22341440 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Cancer | 20164919 | CNVD |
Breast cancer | 22522925 | CNVD |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr7:110175200-110182600 | Weak transcription | IMR90 fetal lung fibroblasts Cell Line | lung |
2 | chr7:110175200-110188400 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
3 | chr7:110176000-110179400 | Weak transcription | Foreskin Keratinocyte Primary Cells skin02 | Skin |
4 | chr7:110176200-110180400 | Weak transcription | HMEC | breast |
5 | chr7:110176200-110181000 | Weak transcription | NHEK | skin |
6 | chr7:110179400-110180200 | Enhancers | Foreskin Keratinocyte Primary Cells skin02 | Skin |
7 | chr7:110180200-110180600 | Weak transcription | Foreskin Keratinocyte Primary Cells skin02 | Skin |
8 | chr7:110180400-110183200 | Enhancers | HMEC | breast |
9 | chr7:110180600-110180800 | Enhancers | Foreskin Keratinocyte Primary Cells skin02 | Skin |