Variant report
Variant | esv2544693 |
---|---|
Chromosome Location | chr7:58042491-58045429 |
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 | chr4:94030168..94030688-chr7:58043283..58043804,2 | MCF-7 | breast: |
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 | rs71527721 | chr7:58042497-58042498 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
2 | rs71565848 | chr7:58042513-58042514 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
3 | rs80026373 | chr7:58042517-58042518 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
4 | rs533227343 | chr7:58042534-58042535 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
5 | rs551391240 | chr7:58042535-58042536 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
6 | rs569701873 | chr7:58042542-58042543 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
7 | rs201510110 | chr7:58042548-58042549 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
8 | rs549408944 | chr7:58042551-58042552 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
9 | rs200972355 | chr7:58042558-58042559 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
10 | rs181750647 | chr7:58042560-58042561 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
11 | rs112390412 | chr7:58042569-58042570 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
12 | rs567907946 | chr7:58042570-58042571 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
13 | rs113538486 | chr7:58042583-58042584 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
14 | rs534921058 | chr7:58042593-58042594 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
15 | rs376482054 | chr7:58042611-58042612 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
16 | rs112746085 | chr7:58042612-58042613 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
17 | rs571281588 | chr7:58042619-58042620 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
18 | rs572020366 | chr7:58042641-58042642 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
19 | rs111995545 | chr7:58042660-58042661 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
20 | rs111675412 | chr7:58042668-58042669 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
21 | rs201762825 | chr7:58042685-58042686 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
22 | rs200110157 | chr7:58042699-58042700 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
23 | rs200868803 | chr7:58042700-58042701 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
24 | rs557034415 | chr7:58042705-58042706 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
25 | rs62459536 | chr7:58042708-58042709 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
26 | rs542595921 | chr7:58042711-58042712 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
27 | rs113232795 | chr7:58042718-58042719 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
28 | rs200065950 | chr7:58042726-58042727 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
29 | rs113908146 | chr7:58042729-58042730 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
30 | rs552969598 | chr7:58042736-58042737 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
31 | rs201383676 | chr7:58042741-58042742 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
32 | rs113228361 | chr7:58042744-58042745 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
33 | rs189603594 | chr7:58042773-58042774 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
34 | rs201982172 | chr7:58042798-58042799 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
35 | rs540077545 | chr7:58042803-58042804 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
36 | rs113706824 | chr7:58042812-58042813 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
37 | rs565070976 | chr7:58042818-58042819 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
38 | rs533286524 | chr7:58042819-58042820 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
39 | rs200194894 | chr7:58042823-58042824 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
40 | rs563389660 | chr7:58042827-58042828 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
41 | rs530817683 | chr7:58042832-58042833 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
42 | rs200851294 | chr7:58042833-58042834 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
43 | rs113606730 | chr7:58042843-58042844 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
44 | rs567884961 | chr7:58042845-58042846 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
45 | rs76616109 | chr7:58042859-58042860 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
46 | rs367772296 | chr7:58042871-58042872 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
47 | rs374299341 | chr7:58042872-58042873 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
48 | rs377098813 | chr7:58042876-58042877 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
49 | rs528760552 | chr7:58042877-58042878 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
50 | rs546910475 | chr7:58042886-58042887 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Glioma | 21971842 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Liposarcoma | 21253554 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Oligodendroglial tumors | 17285580 | CNVD |
Oral cancer | 21386901 | CNVD |
colon cancer | 17210682 | CNVD |
Lung adenocarcinoma | 21810691 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Breast cancer | 21264507 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Hypothalamic hamartomas | 18252217 | CNVD |
Human rectal carcinomas | 16397240 | CNVD |
Peripheral t-cell lymphoma | 19118030 | CNVD |
Medulloblastoma | 18056178 | CNVD |
Wilms tumour | 21544195 | CNVD |
Basal cell lymphoma | 17170743 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Thyroid cancer | 19087340 | CNVD |
Seminomas | 18059402 | CNVD |
Testicular cancer | 18059402 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Autism | 19415332 | 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 |
Stenocardia | 21860640 | CNVD |
Vasospasm | 21860640 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Autism | 22495311 | CNVD |
Biliary cancer | 19435499 | CNVD |
Cancer | 21183584 | CNVD |
Follicular lymphoma | 20505157 | CNVD |
Williams-beuren syndrome | 22470819 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Multiple myeloma | 16461302 | CNVD |
Glioblastoma multiforme | 21750150 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Non-small cell lung cancer | 21829676 | CNVD |
Gastric cancer | 24379144 | CNVD |
Glioblastoma multiforme | 17002787 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Lung cancer | 18438408 | CNVD |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
Lissencephaly | 21572526 | CNVD |
Breast cancer | 17603634 | CNVD |
Breast cancer | 16397240 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Hodgkin''s lymphoma | 18641027 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Schizophrenia | 21399695 | CNVD |
head and neck squamous cell carcinoma | 17671120 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr7:58026400-58042800 | ZNF genes & repeats | HUES64 Cell Line | embryonic stem cell |
2 | chr7:58026400-58043000 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
3 | chr7:58032400-58043000 | ZNF genes & repeats | iPS-18 Cell Line | embryonic stem cell |
4 | chr7:58041400-58043000 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
5 | chr7:58041800-58042600 | ZNF genes & repeats | ES-I3 Cell Line | embryonic stem cell |
6 | chr7:58041800-58042800 | ZNF genes & repeats | HUES6 Cell Line | embryonic stem cell |
7 | chr7:58042000-58042600 | ZNF genes & repeats | HUVEC | blood vessel |
8 | chr7:58042200-58042600 | ZNF genes & repeats | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
9 | chr7:58042400-58042600 | ZNF genes & repeats | Brain Substantia Nigra | brain |
10 | chr7:58042400-58042800 | ZNF genes & repeats | Colon Smooth Muscle | Colon |
11 | chr7:58043000-58044800 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
12 | chr7:58043000-58044800 | Weak transcription | HUES48 Cell Line | embryonic stem cell |
13 | chr7:58043000-58044800 | Weak transcription | iPS-18 Cell Line | embryonic stem cell |
14 | chr7:58044800-58054200 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
15 | chr7:58044800-58054400 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
16 | chr7:58044800-58054400 | ZNF genes & repeats | iPS-18 Cell Line | embryonic stem cell |
17 | chr7:58045000-58054200 | ZNF genes & repeats | HUES64 Cell Line | embryonic stem cell |