Variant report
Variant | esv3357671 |
---|---|
Chromosome Location | chr7:63640942-63643690 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:268)
- CpG islands (count:366)
- Chromatin interactive region (count:1)
- LncRNA region (count:1)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr7:63643602-63643652 | SKMC | muscle: | n/a |
2 | chr7:63641030-63641080 | MCF10A-Er-Src | breast: | n/a |
3 | chr7:63643602-63643652 | ECC-1 | luminal epithelium: | n/a |
4 | chr7:63643602-63643652 | AG10803 | skin: | n/a |
5 | chr7:63641030-63641080 | HMEC | breast: | n/a |
6 | chr7:63643602-63643652 | IMR90 | lung: | fetal |
7 | chr7:63642709-63642759 | HNPCEpiC | eye: | n/a |
8 | chr7:63642083-63642133 | CMK | blood: | n/a |
9 | chr7:63642083-63642133 | IMR90 | lung: | fetal |
10 | chr7:63641507-63641557 | RPTEC | kidney: | n/a |
11 | chr7:63642709-63642759 | NH-A | brain: | n/a |
12 | chr7:63641507-63641557 | AG09309 | skin: | n/a |
13 | chr7:63642709-63642759 | HRCEpiC | kidney: | n/a |
14 | chr7:63641507-63641557 | T-47D | breast: | n/a |
15 | chr7:63641030-63641080 | PFSK-1 | brain: | n/a |
16 | chr7:63643602-63643652 | NHDF-neo | bronchial: | n/a |
17 | chr7:63643277-63643327 | PANC-1 | pancreas: | n/a |
18 | chr7:63641507-63641557 | U87 | brain: | n/a |
19 | chr7:63642083-63642133 | SK-N-SH_RA | brain: | n/a |
20 | chr7:63641030-63641080 | NHDF-neo | bronchial: | n/a |
21 | chr7:63641507-63641557 | HEK293 | kidney: | embryo |
22 | chr7:63641507-63641557 | HMEC | breast: | n/a |
23 | chr7:63642083-63642133 | Caco-2 | colon: | n/a |
24 | chr7:63641030-63641080 | HRCEpiC | kidney: | n/a |
25 | chr7:63642083-63642133 | AG10803 | skin: | n/a |
26 | chr7:63642083-63642133 | HCM | heart: | n/a |
27 | chr7:63643277-63643327 | IMR90 | lung: | fetal |
28 | chr7:63643277-63643327 | NHDF-neo | bronchial: | n/a |
29 | chr7:63642709-63642759 | IMR90 | lung: | fetal |
30 | chr7:63643277-63643327 | Jurkat | blood: | n/a |
31 | chr7:63642709-63642759 | SK-N-SH_RA | brain: | n/a |
32 | chr7:63641030-63641080 | Caco-2 | colon: | n/a |
33 | chr7:63641030-63641080 | GM19239 | blood: | n/a |
34 | chr7:63642083-63642133 | BE2_C | brain: | n/a |
35 | chr7:63643277-63643327 | SKMC | muscle: | n/a |
36 | chr7:63643602-63643652 | NH-A | brain: | n/a |
37 | chr7:63641030-63641080 | Hepatocyte | liver: | n/a |
38 | chr7:63641507-63641557 | HIPEpiC | eye: | n/a |
39 | chr7:63641030-63641080 | AG04449 | skin: | fetal |
40 | chr7:63642709-63642759 | SKMC | muscle: | n/a |
41 | chr7:63642083-63642133 | NH-A | brain: | n/a |
42 | chr7:63643277-63643327 | HEK293 | kidney: | embryo |
43 | chr7:63643277-63643327 | GM19239 | blood: | n/a |
44 | chr7:63641507-63641557 | NHDF-neo | bronchial: | n/a |
45 | chr7:63643602-63643652 | NT2-D1 | testis: | n/a |
46 | chr7:63642709-63642759 | K562 | blood: | n/a |
47 | chr7:63642083-63642133 | LNCaP | prostate: | n/a |
48 | chr7:63643602-63643652 | HCF | heart: | n/a |
49 | chr7:63641507-63641557 | HNPCEpiC | eye: | n/a |
50 | chr7:63642709-63642759 | CMK | blood: | n/a |
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr11:69724215..69725136-chr7:63643168..63643688,2 | MCF-7 | breast: |
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-ZNF680-17 | chr7:63640384-63641270 | NONHSAT120988 |
No data |
No data |
Variant related genes | Relation type |
---|---|
VN1R38P | TF binding region |
ENSG00000213644 | TF binding region |
VN1R38P | CpG island |
ENSG00000213644 | CpG island |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs185302711 | chr7:63640976-63640977 | Inactive region | TF binding regionlncRNA | 1 gene(s) | Overlapped CNVs | n/a |
2 | rs538010972 | chr7:63640977-63640978 | Inactive region | TF binding regionlncRNA | 1 gene(s) | Overlapped CNVs | n/a |
3 | rs548807661 | chr7:63641009-63641010 | Inactive region | TF binding regionlncRNA | 1 gene(s) | Overlapped CNVs | n/a |
4 | rs138840158 | chr7:63641114-63641115 | Inactive region | TF binding regionlncRNA | 1 gene(s) | Overlapped CNVs | n/a |
5 | rs113890012 | chr7:63641122-63641123 | Inactive region | TF binding regionlncRNA | 1 gene(s) | Overlapped CNVs | n/a |
6 | rs143730027 | chr7:63641125-63641126 | Inactive region | TF binding regionlncRNA | 1 gene(s) | Overlapped CNVs | n/a |
7 | rs188162995 | chr7:63641133-63641134 | Inactive region | TF binding regionlncRNA | 1 gene(s) | Overlapped CNVs | n/a |
8 | rs548266627 | chr7:63641158-63641159 | Inactive region | TF binding regionlncRNA | 1 gene(s) | Overlapped CNVs | n/a |
9 | rs538639116 | chr7:63641166-63641167 | Inactive region | TF binding regionlncRNA | 1 gene(s) | Overlapped CNVs | n/a |
10 | rs74417294 | chr7:63641194-63641195 | Inactive region | TF binding regionlncRNA | 1 gene(s) | Overlapped CNVs | n/a |
11 | rs575649251 | chr7:63641202-63641203 | Inactive region | TF binding regionlncRNA | 1 gene(s) | Overlapped CNVs | n/a |
12 | rs544416662 | chr7:63641207-63641208 | Inactive region | TF binding regionlncRNA | 1 gene(s) | Overlapped CNVs | n/a |
13 | rs561164426 | chr7:63641224-63641225 | Inactive region | TF binding regionlncRNA | 1 gene(s) | Overlapped CNVs | n/a |
14 | rs181067030 | chr7:63641244-63641245 | Inactive region | TF binding regionlncRNA | 1 gene(s) | Overlapped CNVs | n/a |
15 | rs540688911 | chr7:63641246-63641247 | Inactive region | TF binding regionlncRNA | 1 gene(s) | Overlapped CNVs | n/a |
16 | rs148118161 | chr7:63641248-63641249 | Inactive region | TF binding regionlncRNA | 1 gene(s) | Overlapped CNVs | n/a |
17 | rs6955135 | chr7:63641275-63641276 | Inactive region | TF binding region | 2 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
18 | rs552165497 | chr7:63641278-63641279 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
19 | rs371479389 | chr7:63641279-63641280 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
20 | rs562835365 | chr7:63641335-63641336 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
21 | rs571057703 | chr7:63641337-63641338 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
22 | rs564974903 | chr7:63641366-63641367 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
23 | rs539601098 | chr7:63641387-63641388 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
24 | rs548475917 | chr7:63641395-63641396 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
25 | rs546808820 | chr7:63641461-63641462 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
26 | rs565411695 | chr7:63641465-63641466 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
27 | rs534441284 | chr7:63641472-63641473 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
28 | rs546626663 | chr7:63641537-63641538 | Inactive region | TF binding regionCpG island | 2 gene(s) | Overlapped CNVs | n/a |
29 | rs367752747 | chr7:63641633-63641634 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
30 | rs566580737 | chr7:63641634-63641635 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
31 | rs115734835 | chr7:63641660-63641661 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
32 | rs79333985 | chr7:63641710-63641711 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
33 | rs200728082 | chr7:63641888-63641889 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
34 | rs539597040 | chr7:63641899-63641900 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
35 | rs34105638 | chr7:63641913-63641914 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
36 | rs117146558 | chr7:63641946-63641947 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
37 | rs538176639 | chr7:63642073-63642074 | ZNF genes & repeats Bivalent/Poised TSS | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
38 | rs568090165 | chr7:63642084-63642085 | ZNF genes & repeats Bivalent/Poised TSS | TF binding regionCpG island | 2 gene(s) | Overlapped CNVs | n/a |
39 | rs6460123 | chr7:63642266-63642267 | ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
40 | rs6460124 | chr7:63642371-63642372 | ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
41 | rs540058542 | chr7:63642379-63642380 | ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS | n/a | n/a | Overlapped CNVs | n/a |
42 | rs111240834 | chr7:63642386-63642387 | ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS | n/a | n/a | Overlapped CNVs | n/a |
43 | rs545792738 | chr7:63642392-63642393 | ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS | n/a | n/a | Overlapped CNVs | n/a |
44 | rs370009505 | chr7:63642398-63642399 | ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS | n/a | n/a | Overlapped CNVs | n/a |
45 | rs34333960 | chr7:63642413-63642414 | ZNF genes & repeats Active TSS | n/a | n/a | Overlapped CNVs | n/a |
46 | rs35866732 | chr7:63642414-63642415 | ZNF genes & repeats Active TSS | n/a | n/a | Overlapped CNVs | n/a |
47 | rs35856616 | chr7:63642415-63642416 | ZNF genes & repeats Active TSS | n/a | n/a | Overlapped CNVs | n/a |
48 | rs6460125 | chr7:63642416-63642417 | ZNF genes & repeats Active TSS | n/a | n/a | Overlapped CNVs | n/a |
49 | rs531610048 | chr7:63642422-63642423 | ZNF genes & repeats Active TSS | n/a | n/a | Overlapped CNVs | n/a |
50 | rs150773619 | chr7:63642431-63642432 | ZNF genes & repeats Active TSS | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Wilms tumour | 21544195 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Basal cell lymphoma | 17170743 | CNVD |
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 |
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 |
Follicular lymphoma | 20505157 | CNVD |
Biliary cancer | 19435499 | CNVD |
Williams-beuren syndrome | 22470819 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Multiple myeloma | 16461302 | CNVD |
Glioblastoma multiforme | 21750150 | CNVD |
Cancer | 21183584 | 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 |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
Lissencephaly | 21572526 | CNVD |
Breast cancer | 17603634 | CNVD |
Liposarcoma | 21253554 | CNVD |
Breast cancer | 16397240 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Hodgkin''s lymphoma | 18641027 | 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 |
Glioblastoma | 21080181 | 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 |
Breast cancer | 21990379 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Schizophrenia | 21399695 | CNVD |
Malignant fibrous histiocytomas | 21085701 | CNVD |
Astrocytoma | 22246337 | CNVD |
Renal cell carcinoma | 18592004 | CNVD |
Acute promyelocytic leukemia | 19109227 | CNVD |
Lung cancer | 18438408 | CNVD |
Breast cancer | 21364760 | CNVD |
Acute monocytic leukemia | 16498392 | CNVD |
Prostate cancer | 16461572 | CNVD |
Salivary gland tumor | 18059337 | CNVD |
Multiple myeloma | 17550852 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Ovarian cancer | 21781307 | CNVD |
Breast cancer | 22522925 | CNVD |
Bladder cancer | 21909424 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr7:63642000-63642400 | Bivalent/Poised TSS | Ovary | ovary |
2 | chr7:63642000-63643800 | ZNF genes & repeats | Lung | lung |
3 | chr7:63642000-63643800 | ZNF genes & repeats | Spleen | Spleen |
4 | chr7:63642200-63642400 | Bivalent Enhancer | Primary hematopoietic stem cells G-CSF-mobilized Female | -- |
5 | chr7:63642200-63643600 | ZNF genes & repeats | Foreskin Fibroblast Primary Cells skin01 | Skin |
6 | chr7:63642200-63644800 | ZNF genes & repeats | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
7 | chr7:63642200-63644800 | ZNF genes & repeats | Foreskin Melanocyte Primary Cells skin01 | Skin |
8 | chr7:63642400-63642600 | Active TSS | Ovary | ovary |
9 | chr7:63642400-63643600 | ZNF genes & repeats | Foreskin Fibroblast Primary Cells skin02 | Skin |
10 | chr7:63642400-63645600 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
11 | chr7:63642400-63645600 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |
12 | chr7:63642600-63642800 | Flanking Active TSS | Ovary | ovary |
13 | chr7:63642800-63643000 | Bivalent/Poised TSS | Stomach Smooth Muscle | stomach |
14 | chr7:63642800-63643200 | Bivalent Enhancer | Brain Inferior Temporal Lobe | brain |
15 | chr7:63642800-63643800 | Enhancers | Ovary | ovary |
16 | chr7:63643000-63643800 | Bivalent Enhancer | Stomach Smooth Muscle | stomach |
17 | chr7:63643200-63644000 | Enhancers | Brain Cingulate Gyrus | brain |
18 | chr7:63643400-63643600 | Bivalent Enhancer | Primary T helper cells PMA-I stimulated | -- |
19 | chr7:63643400-63643600 | Bivalent Enhancer | Duodenum Smooth Muscle | Duodenum |
20 | chr7:63643400-63643600 | Enhancers | Right Atrium | heart |
21 | chr7:63643400-63643600 | Bivalent Enhancer | Skeletal Muscle Male | skeletal muscle |
22 | chr7:63643400-63643800 | Enhancers | Primary T cells effector/memory enriched fromperipheralblood | blood |
23 | chr7:63643400-63643800 | Enhancers | Brain Inferior Temporal Lobe | brain |
24 | chr7:63643400-63644000 | Bivalent Enhancer | Primary T cells fromperipheralblood | blood |
25 | chr7:63643400-63644000 | Enhancers | Brain Anterior Caudate | brain |
26 | chr7:63643600-63643800 | Enhancers | Primary T helper cells PMA-I stimulated | -- |
27 | chr7:63643600-63646800 | Weak transcription | Right Atrium | heart |