Variant report
Variant | esv3425597 |
---|---|
Chromosome Location | chr1:215041279-215044877 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:5)
- CpG islands (count:183)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:5 , 50 per page) page:
1
No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | MYC | chr1:215044866-215044895 | MCF-7 | breast: | n/a | n/a |
2 | NR2F2 | chr1:215041945-215042212 | K562 | blood: | n/a | n/a |
3 | POLR2A | chr1:215043032-215043116 | A549 | lung: | n/a | n/a |
4 | POLR2A | chr1:215044625-215044832 | MCF-7 | breast: | n/a | n/a |
5 | POLR2A | chr1:215044076-215044129 | Gliobla | brain: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr1:215041853-215041903 | HRCEpiC | kidney: | n/a |
2 | chr1:215044060-215044110 | AG04450 | lung: | fetal |
3 | chr1:215041853-215041903 | HAEpiC | amniotic membrane: | n/a |
4 | chr1:215041899-215041949 | NT2-D1 | testis: | n/a |
5 | chr1:215041899-215041949 | HUVEC | blood vessel: | n/a |
6 | chr1:215041899-215041949 | SAEC | small airway: | n/a |
7 | chr1:215041899-215041949 | PrEC | prostate: | n/a |
8 | chr1:215044060-215044110 | Hepatocyte | liver: | n/a |
9 | chr1:215044060-215044110 | HepG2 | liver: | n/a |
10 | chr1:215041853-215041903 | AG04450 | lung: | fetal |
11 | chr1:215041899-215041949 | GM12878 | blood: | n/a |
12 | chr1:215044060-215044110 | HRPEpiC | eye: | n/a |
13 | chr1:215041899-215041949 | AoSMC | blood vessel: | n/a |
14 | chr1:215041899-215041949 | AG09309 | skin: | n/a |
15 | chr1:215041899-215041949 | SK-N-MC | brain: | n/a |
16 | chr1:215044060-215044110 | HNPCEpiC | eye: | n/a |
17 | chr1:215041853-215041903 | GM19239 | blood: | n/a |
18 | chr1:215041853-215041903 | AG09319 | gingival: | n/a |
19 | chr1:215041853-215041903 | HUVEC | blood vessel: | n/a |
20 | chr1:215041853-215041903 | MCF-7 | breast: | n/a |
21 | chr1:215041853-215041903 | HRE | kidney: | n/a |
22 | chr1:215041853-215041903 | NT2-D1 | testis: | n/a |
23 | chr1:215041853-215041903 | HCT-116 | colon: | n/a |
24 | chr1:215044060-215044110 | RPTEC | kidney: | n/a |
25 | chr1:215044060-215044110 | HAEpiC | amniotic membrane: | n/a |
26 | chr1:215044060-215044110 | LNCaP | prostate: | n/a |
27 | chr1:215044060-215044110 | SK-N-SH | brain: | n/a |
28 | chr1:215041853-215041903 | HNPCEpiC | eye: | n/a |
29 | chr1:215041853-215041903 | GM12892 | blood: | n/a |
30 | chr1:215041899-215041949 | IMR90 | lung: | fetal |
31 | chr1:215041853-215041903 | ovcar-3 | ovarian: | n/a |
32 | chr1:215041899-215041949 | Jurkat | blood: | n/a |
33 | chr1:215044060-215044110 | HEK293 | kidney: | embryo |
34 | chr1:215041853-215041903 | K562 | blood: | n/a |
35 | chr1:215041853-215041903 | HRPEpiC | eye: | n/a |
36 | chr1:215044060-215044110 | HUVEC | blood vessel: | n/a |
37 | chr1:215041899-215041949 | NHBE | bronchial: | n/a |
38 | chr1:215041853-215041903 | HepG2 | liver: | n/a |
39 | chr1:215044060-215044110 | HMEC | breast: | n/a |
40 | chr1:215041853-215041903 | HCM | heart: | n/a |
41 | chr1:215041853-215041903 | SK-N-SH | brain: | n/a |
42 | chr1:215041853-215041903 | AG10803 | skin: | n/a |
43 | chr1:215041853-215041903 | GM12878 | blood: | n/a |
44 | chr1:215041899-215041949 | ProgFib | skin: | n/a |
45 | chr1:215041853-215041903 | NB4 | blood: | n/a |
46 | chr1:215041853-215041903 | CMK | blood: | n/a |
47 | chr1:215041853-215041903 | MCF10A-Er-Src | breast: | n/a |
48 | chr1:215041853-215041903 | GM12891 | blood: | n/a |
49 | chr1:215041899-215041949 | HEEpiC | esophagus: | n/a |
50 | chr1:215044060-215044110 | GM12878 | blood: | n/a |
No data |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
GAPDHP24 | TF binding region |
GAPDHP24 | CpG island |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs141459383 | chr1:215041853-215041854 | Inactive region | CpG island | 1 gene(s) | Overlapped CNVs | n/a |
2 | rs373789318 | chr1:215041854-215041855 | Inactive region | CpG island | 1 gene(s) | Overlapped CNVs | n/a |
3 | rs1336950 | chr1:215041864-215041865 | Inactive region | CpG island | 1 gene(s) | Overlapped CNVs | n/a |
4 | rs372377788 | chr1:215041876-215041877 | Inactive region | CpG island | 1 gene(s) | Overlapped CNVs | n/a |
5 | rs12132378 | chr1:215041904-215041905 | Inactive region | CpG island | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
6 | rs141645821 | chr1:215041921-215041922 | Inactive region | CpG island | 1 gene(s) | Overlapped CNVs | n/a |
7 | rs369149890 | chr1:215041923-215041924 | Inactive region | CpG island | 1 gene(s) | Overlapped CNVs | n/a |
8 | rs12753143 | chr1:215041926-215041927 | Inactive region | CpG island | 1 gene(s) | Overlapped CNVs | n/a |
9 | rs61818202 | chr1:215041951-215041952 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
10 | rs28533519 | chr1:215041952-215041953 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
11 | rs28385349 | chr1:215041953-215041954 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
12 | rs12132385 | chr1:215041990-215041991 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
13 | rs529272818 | chr1:215041996-215041997 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
14 | rs549413496 | chr1:215042092-215042093 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
15 | rs559899535 | chr1:215042093-215042094 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
16 | rs528669062 | chr1:215042096-215042097 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
17 | rs552031672 | chr1:215042100-215042101 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
18 | rs571953100 | chr1:215042104-215042105 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
19 | rs537788501 | chr1:215042136-215042137 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
20 | rs542034957 | chr1:215042156-215042157 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
21 | rs369424378 | chr1:215042172-215042173 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
22 | rs373284345 | chr1:215042176-215042177 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
23 | rs569588720 | chr1:215042204-215042205 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Breast cancer | 17603634 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
HIV/AIDS | 22032296 | CNVD |
Schizophrenia | 19415332 | CNVD |
Autism | 22495311 | CNVD |
Melanoma | 18172304 | CNVD |
Rett syndrome | 21593744 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Cancer | 20164919 | CNVD |
Acute lymphoblastic leukemia | 17443227 | CNVD |
Wilms tumour | 21544195 | CNVD |
Breast cancer | 17133270 | CNVD |
Non-small cell lung cancer | 21044232 | CNVD |
Cervical cancer | 21063398 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Astrocytoma | 17387387 | CNVD |
Breast cancer | 20632083 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Gastrointestinal stromal cancer | 20470368 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Medulloblastoma | 21292688 | CNVD |
Phyllodes tumor | 17334353 | CNVD |
Breast cancer | 21264507 | CNVD |
Liposarcoma | 21253554 | CNVD |
Multiple myeloma | 21628407 | CNVD |
Cancer | 16751803 | CNVD |
Prostate cancer | 16705090 | CNVD |
Neuroblastoma | 19435921 | CNVD |
Breast cancer | 17850661 | CNVD |
Breast cancer | 16461572 | CNVD |
Intracranial tumor | 16823260 | CNVD |
Medulloblastoma | 18056178 | CNVD |
Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Acute lymphoblastic leukemia | 21098271 | CNVD |
Neuroblastoma | 21899760 | CNVD |
Breast cancer | 21858162 | CNVD |
Non-small cell lung cancer | 21385341 | CNVD |
Acute lymphoblastic leukemia | 21980252 | CNVD |
Breast cancer | 16608533 | CNVD |
Ewing''s sarcoma | 22429812 | CNVD |
Acute promyelocytic leukemia | 19109227 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Breast cancer | 17001317 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
Multiple myeloma | 17550852 | CNVD |
Prostate cancer | 18632612 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Testicular germ cell tumor | 18059402 | CNVD |
Ependymoma | 18628472 | CNVD |
Leukemia | 18628472 | CNVD |
Neuroblastoma | 18923191 | CNVD |
Acute lymphoblastic leukemia | 19100363 | CNVD |
Breast cancer | 21509527 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Chordoma | 18071362 | CNVD |
Multiple myeloma | 16461302 | CNVD |
van der Woude syndrome | 22470819 | CNVD |
van der Woude syndrome | 20818247 | CNVD |
T-cell lymphomas | 19863542 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Hepatocellular carcinoma | 18803288 | CNVD |
Urothelial tumor | 18831757 | CNVD |
Lung cancer | 18438408 | CNVD |
Ovarian cancer | 21720365 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Ovarian clear cell carcinoma | 19293255 | CNVD |
Medulloblastoma | 16783165 | CNVD |
Basal cell lymphoma | 17170743 | CNVD |
Hirschsprung''s Disease | 21712996 | CNVD |
Congenital diaphragmatic hernia | 21085971 | CNVD |
Holoprosencephaly | 19184110 | CNVD |
Breast cancer | 21069454 | CNVD |
Malignant fibrous histiocytomas | 21085701 | CNVD |
Mental retardation | 19951919 | CNVD |
Non-syndromic sensorineural hearing loss | 17873649 | CNVD |
Acute myeloid leukemia | 17268525 | CNVD |
Lung cancer | 16740712 | CNVD |
Renal cell carcinoma | 18765545 | CNVD |
Basal cell lymphoma | 17053054 | CNVD |
Breast cancer | 22522925 | CNVD |
Non-syndromic sensorineural hearing loss | 18451855 | CNVD |