Variant report
Variant | esv3402619 |
---|---|
Chromosome Location | chr12:48893535-48896233 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:6)
- CpG islands (count:61)
- Chromatin interactive region (count:3)
- LncRNA region (count:1)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
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No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | GATA2 | chr12:48893639-48893862 | K562 | blood: | n/a | n/a |
2 | NR2F2 | chr12:48893524-48893915 | K562 | blood: | n/a | n/a |
3 | NR2F2 | chr12:48893554-48893954 | K562 | blood: | n/a | n/a |
4 | POLR2A | chr12:48894010-48894017 | K562 | blood: | n/a | n/a |
5 | POLR2A | chr12:48895037-48895446 | K562 | blood: | n/a | n/a |
6 | STAT3 | chr12:48895369-48895394 | MCF10A-Er-Src | breast: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr12:48894512-48894562 | AG10803 | skin: | n/a |
2 | chr12:48894512-48894562 | HCM | heart: | n/a |
3 | chr12:48894512-48894562 | HL-60 | blood: | n/a |
4 | chr12:48894512-48894562 | PrEC | prostate: | n/a |
5 | chr12:48894512-48894562 | SK-N-SH_RA | brain: | n/a |
6 | chr12:48894512-48894562 | AG09319 | gingival: | n/a |
7 | chr12:48894512-48894562 | Caco-2 | colon: | n/a |
8 | chr12:48894512-48894562 | GM12892 | blood: | n/a |
9 | chr12:48894512-48894562 | SAEC | small airway: | n/a |
10 | chr12:48894512-48894562 | NHDF-neo | bronchial: | n/a |
11 | chr12:48894512-48894562 | GM12878 | blood: | n/a |
12 | chr12:48894512-48894562 | HRPEpiC | eye: | n/a |
13 | chr12:48894512-48894562 | MCF-7 | breast: | n/a |
14 | chr12:48894512-48894562 | NH-A | brain: | n/a |
15 | chr12:48894512-48894562 | K562 | blood: | n/a |
16 | chr12:48894512-48894562 | HIPEpiC | eye: | n/a |
17 | chr12:48894512-48894562 | HPAEpiC | pulmonary alveolar: | n/a |
18 | chr12:48894512-48894562 | HRCEpiC | kidney: | n/a |
19 | chr12:48894512-48894562 | CMK | blood: | n/a |
20 | chr12:48894512-48894562 | GM19239 | blood: | n/a |
21 | chr12:48894512-48894562 | ovcar-3 | ovarian: | n/a |
22 | chr12:48894512-48894562 | Hela-S3 | cervix: | n/a |
23 | chr12:48894512-48894562 | Hepatocyte | liver: | n/a |
24 | chr12:48894512-48894562 | U87 | brain: | n/a |
25 | chr12:48894512-48894562 | AG04450 | lung: | fetal |
26 | chr12:48894512-48894562 | BE2_C | brain: | n/a |
27 | chr12:48894512-48894562 | HMEC | breast: | n/a |
28 | chr12:48894512-48894562 | HepG2 | liver: | n/a |
29 | chr12:48894512-48894562 | H1-hESC | embryonic stem cell: | embryo |
30 | chr12:48894512-48894562 | T-47D | breast: | n/a |
31 | chr12:48894512-48894562 | HEEpiC | esophagus: | n/a |
32 | chr12:48894512-48894562 | PFSK-1 | brain: | n/a |
33 | chr12:48894512-48894562 | HNPCEpiC | eye: | n/a |
34 | chr12:48894512-48894562 | SK-N-SH | brain: | n/a |
35 | chr12:48894512-48894562 | SK-N-MC | brain: | n/a |
36 | chr12:48894512-48894562 | SKMC | muscle: | n/a |
37 | chr12:48894512-48894562 | HUVEC | blood vessel: | n/a |
38 | chr12:48894512-48894562 | ProgFib | skin: | n/a |
39 | chr12:48894512-48894562 | Jurkat | blood: | n/a |
40 | chr12:48894512-48894562 | GM06990 | blood: | n/a |
41 | chr12:48894512-48894562 | AG04449 | skin: | fetal |
42 | chr12:48894512-48894562 | NT2-D1 | testis: | n/a |
43 | chr12:48894512-48894562 | HCT-116 | colon: | n/a |
44 | chr12:48894512-48894562 | HCF | heart: | n/a |
45 | chr12:48894512-48894562 | RPTEC | kidney: | n/a |
46 | chr12:48894512-48894562 | IMR90 | lung: | fetal |
47 | chr12:48894512-48894562 | HCPEpiC | choroid plexus: | n/a |
48 | chr12:48894512-48894562 | GM12891 | blood: | n/a |
49 | chr12:48894512-48894562 | PANC-1 | pancreas: | n/a |
50 | chr12:48894512-48894562 | AoSMC | blood vessel: | n/a |
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-LALBA-1 | chr12:48894605-48894744 | ENSG00000258121.1 |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000258121 | TF binding region |
OR8S1 | TF binding region |
ENSG00000258121 | CpG island |
OR8S1 | CpG island |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs540121529 | chr12:48894608-48894609 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
2 | rs146226969 | chr12:48894619-48894620 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
3 | rs192384447 | chr12:48894620-48894621 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
4 | rs577733456 | chr12:48894622-48894623 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
5 | rs543546534 | chr12:48894625-48894626 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
6 | rs563679568 | chr12:48894626-48894627 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
7 | rs142267979 | chr12:48894658-48894659 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
8 | rs139765257 | chr12:48894661-48894662 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
9 | rs200703564 | chr12:48894671-48894672 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
10 | rs561844531 | chr12:48894674-48894675 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
11 | rs527436179 | chr12:48894676-48894677 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
12 | rs547634496 | chr12:48894689-48894690 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
13 | rs570526574 | chr12:48894701-48894702 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
14 | rs532890073 | chr12:48894705-48894706 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
15 | rs549637084 | chr12:48894711-48894712 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
16 | rs201184194 | chr12:48894731-48894732 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
17 | rs567101359 | chr12:48894738-48894739 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
18 | rs571041072 | chr12:48894741-48894742 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
19 | rs539563373 | chr12:48895041-48895042 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
20 | rs569657379 | chr12:48895066-48895067 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
21 | rs189622025 | chr12:48895075-48895076 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
22 | rs548721839 | chr12:48895103-48895104 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
23 | rs368231227 | chr12:48895110-48895111 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
24 | rs565372646 | chr12:48895119-48895120 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
25 | rs2468348 | chr12:48895137-48895138 | Inactive region | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
26 | rs558078812 | chr12:48895160-48895161 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
27 | rs577807614 | chr12:48895163-48895164 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
28 | rs537258043 | chr12:48895168-48895169 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
29 | rs557378529 | chr12:48895174-48895175 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
30 | rs145188461 | chr12:48895184-48895185 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
31 | rs371359831 | chr12:48895193-48895194 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
32 | rs553076466 | chr12:48895214-48895215 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
33 | rs35280705 | chr12:48895244-48895245 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
34 | rs71080117 | chr12:48895245-48895246 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
35 | rs573301869 | chr12:48895256-48895257 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
36 | rs541328250 | chr12:48895257-48895258 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
37 | rs564411647 | chr12:48895265-48895266 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
38 | rs533116741 | chr12:48895277-48895278 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
39 | rs376839140 | chr12:48895298-48895299 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
40 | rs143964158 | chr12:48895307-48895308 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
41 | rs57703926 | chr12:48895337-48895338 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
42 | rs147696210 | chr12:48895349-48895350 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
43 | rs7302209 | chr12:48895384-48895385 | Inactive region | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
44 | rs2705165 | chr12:48895438-48895439 | Inactive region | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
45 | rs112788750 | chr12:48895444-48895445 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Chronic lymphocytic leukemia | 21546498 | CNVD |
Seminomas | 18059402 | CNVD |
Wilms tumour | 21544195 | CNVD |
Esophageal cancer | 21851588 | CNVD |
Lung cancer | 20668451 | CNVD |
Breast cancer | 20668451 | CNVD |
Cancer | 20668451 | CNVD |
Ovarian cancer | 20668451 | CNVD |
Pancreas cancer | 20668451 | CNVD |
Prostate cancer | 20668451 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Testicular germ cell tumor | 18059402 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Malaria | 21533027 | CNVD |
Chronic lymphocytic leukemia | 22228453 | CNVD |
Basal cell lymphoma | 17053054 | CNVD |
Chronic lymphocytic leukemia | 21670202 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Autism | 22495311 | CNVD |
Neurodevelopmental disorder | 22521361 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Renal cell carcinoma | 18194544 | CNVD |
Breast cancer | 21949216 | CNVD |
Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Cancer | 21637783 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Renal cell carcinoma | 19461508 | CNVD |
Burkitt''s lymphoma | 18698080 | CNVD |
Astrocytoma | 17387387 | CNVD |
Breast cancer | 21264507 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Gastrointestinal stromal cancer | 20470368 | CNVD |
Adenoid cystic carcinoma | 17372589 | CNVD |
Hirschsprung''s Disease | 21712996 | CNVD |
Lissencephaly | 21572526 | CNVD |
Lung cancer | 18438408 | CNVD |
Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
Adenoid cystic carcinoma | 18698036 | CNVD |
Breast cancer | 19602461 | CNVD |
Breast cancer | 17899364 | CNVD |
Colorectal cancer | 16272173 | CNVD |
low-grade B-cell lymphoma tumor | 18367492 | CNVD |
Adenoid cystic carcinoma | 18332873 | CNVD |
Breast cancer | 21364760 | CNVD |
Prostate cancer | 18632612 | CNVD |
Follicular lymphoma | 20505157 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Melanoma | 18172304 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Glioblastoma multiforme | 17387387 | CNVD |
liposarcomas | 17372913 | CNVD |
Non-small cell lung cancer | 24170126 | CNVD |
Cancer | 16751803 | CNVD |
Hodgkin''s lymphoma | 18641027 | CNVD |
Bladder cancer | 21909424 | CNVD |
Multiple myeloma | 16616336 | CNVD |
Intracranial aneurysm | 16715129 | CNVD |
Breast cancer | 17661082 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Breast cancer | 21785460 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Intracranial ependymoma | 16609018 | CNVD |
Breast cancer | 22522925 | CNVD |