Variant report
Variant | nsv548529 |
---|---|
Chromosome Location | chr1:189639180-189678231 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:489)
- CpG islands (count:0)
- Chromatin interactive region (count:11)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | ARID3A | chr1:189655218-189655237 | K562 | blood: | n/a | n/a |
2 | ATF1 | chr1:189645110-189645131 | K562 | blood: | n/a | n/a |
3 | BACH1 | chr1:189660033-189660067 | K562 | blood: | n/a | n/a |
4 | BCL3 | chr1:189650561-189651101 | A549 | lung: | n/a | n/a |
5 | BRCA1 | chr1:189640354-189640407 | H1-hESC | embryonic stem cell: | n/a | n/a |
6 | CEBPB | chr1:189675215-189675438 | HepG2 | liver: | n/a | chr1:189675255-189675266 |
7 | CEBPB | chr1:189672613-189673256 | IMR90 | lung: | n/a | n/a |
8 | CEBPB | chr1:189675218-189675345 | A549 | lung: | n/a | chr1:189675255-189675266 |
9 | CEBPB | chr1:189651781-189651981 | A549 | lung: | n/a | n/a |
10 | CEBPB | chr1:189650548-189650953 | A549 | lung: | n/a | n/a |
11 | CEBPB | chr1:189646472-189646806 | HepG2 | liver: | n/a | n/a |
12 | CTCF | chr1:189648031-189648220 | MCF-7 | breast: | n/a | n/a |
13 | CTCF | chr1:189677860-189678010 | HPF | lung: | n/a | n/a |
14 | CTCF | chr1:189647980-189648130 | HBMEC | blood vessel: | n/a | n/a |
15 | CTCF | chr1:189662460-189662610 | MCF-7 | breast: | n/a | chr1:189662475-189662488 chr1:189662473-189662491 |
16 | CTCF | chr1:189662460-189662503 | LNCaP | prostate: | n/a | chr1:189662475-189662488 chr1:189662473-189662491 |
17 | CTCF | chr1:189647953-189648287 | GM12878 | blood: | n/a | n/a |
18 | CTCF | chr1:189677920-189678070 | HPF | lung: | n/a | n/a |
19 | CTCF | chr1:189662380-189662530 | A549 | lung: | n/a | chr1:189662475-189662488 chr1:189662473-189662491 |
20 | CTCF | chr1:189677755-189678121 | Gliobla | brain: | n/a | n/a |
21 | CTCF | chr1:189648120-189648270 | GM06990 | blood: | n/a | n/a |
22 | CTCF | chr1:189648100-189648250 | NHDF-neo | bronchial: | n/a | n/a |
23 | CTCF | chr1:189677940-189678090 | Caco-2 | colon: | n/a | n/a |
24 | CTCF | chr1:189647900-189648050 | HVMF | connective: | n/a | n/a |
25 | CTCF | chr1:189662392-189662608 | Gliobla | brain: | n/a | chr1:189662475-189662488 chr1:189662473-189662491 |
26 | CTCF | chr1:189677860-189678010 | GM12865 | blood: | n/a | n/a |
27 | CTCF | chr1:189647833-189648332 | MCF-7 | breast: | n/a | n/a |
28 | CTCF | chr1:189677888-189678023 | A549 | lung: | n/a | n/a |
29 | CTCF | chr1:189642437-189642650 | T-47D | breast: | n/a | n/a |
30 | CTCF | chr1:189647980-189648130 | GM12871 | blood: | n/a | n/a |
31 | CTCF | chr1:189647960-189648110 | GM12867 | blood: | n/a | n/a |
32 | CTCF | chr1:189648020-189648170 | HCPEpiC | choroid plexus: | n/a | n/a |
33 | CTCF | chr1:189642549-189642571 | MCF-7 | breast: | n/a | n/a |
34 | CTCF | chr1:189662380-189662530 | BE2_C | brain: | n/a | chr1:189662475-189662488 chr1:189662473-189662491 |
35 | CTCF | chr1:189642565-189642600 | LNCaP | prostate: | n/a | n/a |
36 | CTCF | chr1:189648000-189648150 | SK-N-SH_RA | brain: | n/a | n/a |
37 | CTCF | chr1:189648011-189648187 | Medullo | brain: | n/a | n/a |
38 | CTCF | chr1:189677880-189678030 | HBMEC | blood vessel: | n/a | n/a |
39 | CTCF | chr1:189662420-189662570 | GM12874 | blood: | n/a | chr1:189662475-189662488 chr1:189662473-189662491 |
40 | CTCF | chr1:189677840-189677990 | SAEC | small airway: | n/a | n/a |
41 | CTCF | chr1:189677860-189678010 | A549 | lung: | n/a | n/a |
42 | CTCF | chr1:189642504-189642637 | Hela-S3 | cervix: | n/a | n/a |
43 | CTCF | chr1:189677880-189678030 | Hela-S3 | cervix: | n/a | n/a |
44 | CTCF | chr1:189642480-189642646 | MCF-7 | breast: | n/a | n/a |
45 | CTCF | chr1:189677922-189678028 | GM12878 | blood: | n/a | n/a |
46 | CTCF | chr1:189662384-189662565 | MCF-7 | breast: | n/a | chr1:189662475-189662488 chr1:189662473-189662491 |
47 | CTCF | chr1:189648080-189648230 | GM12872 | blood: | n/a | n/a |
48 | CTCF | chr1:189648040-189648190 | GM12872 | blood: | n/a | n/a |
49 | CTCF | chr1:189662380-189662530 | Caco-2 | colon: | n/a | chr1:189662475-189662488 chr1:189662473-189662491 |
50 | CTCF | chr1:189647980-189648130 | GM12872 | blood: | n/a | n/a |
No data |
(count:11 , 50 per page) page:
1
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr1:189646033..189647879-chr5:175874488..175876371,2 | MCF-7 | breast: | |
2 | chr1:189398408..189399387-chr1:189661985..189662829,2 | MCF-7 | breast: | |
3 | chr1:189398440..189399083-chr1:189642226..189643036,4 | MCF-7 | breast: | |
4 | chr1:189589226..189590045-chr1:189662088..189662866,2 | MCF-7 | breast: | |
5 | chr1:189624367..189627091-chr1:189650312..189652304,2 | MCF-7 | breast: | |
6 | chr1:189627826..189630498-chr1:189636599..189639267,2 | MCF-7 | breast: | |
7 | chr1:189398509..189399144-chr1:189660311..189661261,2 | MCF-7 | breast: | |
8 | chr1:189677502..189678569-chr1:190053452..190054228,3 | MCF-7 | breast: | |
9 | chr1:189672702..189674835-chr1:189679900..189682761,2 | MCF-7 | breast: | |
10 | chr1:189627801..189630516-chr1:189640573..189642596,2 | MCF-7 | breast: | |
11 | chr1:189677420..189678491-chr1:190289916..190290952,3 | MCF-7 | breast: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
RNA5SP73 | TF binding region |
ENSG00000113194 | chromatin interactions |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs1976437 | chr1:189639180-189639181 | Weak transcription | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
2 | rs150660681 | chr1:189639195-189639196 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
3 | rs139849819 | chr1:189639285-189639286 | Weak transcription Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
4 | rs192441683 | chr1:189639303-189639304 | Weak transcription Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
5 | rs544041147 | chr1:189639344-189639345 | Weak transcription Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
6 | rs548538387 | chr1:189639351-189639352 | Weak transcription Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
7 | rs561942057 | chr1:189639442-189639443 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs541128159 | chr1:189639486-189639487 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs200844336 | chr1:189639488-189639489 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs201964862 | chr1:189639489-189639490 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs527558339 | chr1:189639501-189639502 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs547435099 | chr1:189639561-189639562 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs559010534 | chr1:189639596-189639597 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs529769649 | chr1:189639603-189639604 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs182181384 | chr1:189639615-189639616 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs539165107 | chr1:189639623-189639624 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs549836463 | chr1:189639653-189639654 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs149855389 | chr1:189639679-189639680 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs535628183 | chr1:189639720-189639721 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs145846051 | chr1:189639721-189639722 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs488657 | chr1:189639744-189639745 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
22 | rs185974926 | chr1:189639800-189639801 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs557732751 | chr1:189639853-189639854 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs116137446 | chr1:189639879-189639880 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs543594559 | chr1:189639951-189639952 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs139877309 | chr1:189639957-189639958 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs552830824 | chr1:189639983-189639984 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs190794950 | chr1:189640055-189640056 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs542068641 | chr1:189640063-189640064 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs561833370 | chr1:189640079-189640080 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs527595907 | chr1:189640160-189640161 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs541282418 | chr1:189640163-189640164 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs571095750 | chr1:189640183-189640184 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs183115105 | chr1:189640213-189640214 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs16831147 | chr1:189640244-189640245 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
36 | rs548246495 | chr1:189640281-189640282 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs185635244 | chr1:189640297-189640298 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs569753045 | chr1:189640341-189640342 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs528666463 | chr1:189640358-189640359 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
40 | rs546906276 | chr1:189640364-189640365 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
41 | rs528919959 | chr1:189640492-189640493 | Bivalent Enhancer Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs572342 | chr1:189640537-189640538 | Bivalent Enhancer Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
43 | rs537258547 | chr1:189640586-189640587 | Bivalent Enhancer Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs67392623 | chr1:189640641-189640642 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs565888908 | chr1:189640749-189640750 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs557500181 | chr1:189640763-189640764 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs486286 | chr1:189640812-189640813 | Bivalent Enhancer Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
48 | rs115235202 | chr1:189640836-189640837 | Bivalent Enhancer Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs145350050 | chr1:189640873-189640874 | Bivalent Enhancer Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs372394257 | chr1:189640876-189640877 | Bivalent Enhancer Weak transcription | n/a | n/a | 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 |
Liposarcoma | 21253554 | CNVD |
Burkitt''s lymphoma | 18698080 | CNVD |
Melanoma | 18172304 | CNVD |
Rett syndrome | 21593744 | CNVD |
Cancer | 20164919 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Acute lymphoblastic leukemia | 17443227 | CNVD |
Wilms tumour | 21544195 | CNVD |
Breast cancer | 17133270 | CNVD |
Carcinoma ex pleomorphic adenoma | 18828159 | 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 |
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 |
Ovarian neoplasms | 16753589 | CNVD |
Glioblastoma multiforme | 17002787 | 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 |
Hepatocellular carcinoma | 18803288 | 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 |
Ewing''s sarcoma | 17952124 | CNVD |
Acute lymphoblastic leukemia | 19100363 | CNVD |
Lung cancer | 18438408 | CNVD |
Breast cancer | 21509527 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Melanoma | 20688739 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Breast cancer | 21611746 | CNVD |
primary effusion lymphomas | 17116491 | CNVD |
Breast cancer | 17393978 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Breast cancer | 17899364 | CNVD |
Non-small cell lung cancer | 19010865 | CNVD |
Mental retardation | 17847001 | CNVD |
Basal cell lymphoma | 17170743 | CNVD |
Follicular lymphoma | 17170743 | CNVD |
Trisomy 5 syndrome | 21098271 | CNVD |
Acute lymphoblastic leukemia | 21390130 | CNVD |
Cutaneous T-cell lymphoma | 21881587 | CNVD |
Lung adenocarcinoma | 17086460 | CNVD |
Glioblastoma multiforme | 22286061 | CNVD |
Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr1:189629400-189641400 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
2 | chr1:189639200-189639400 | Enhancers | A549 | lung |
3 | chr1:189640400-189640600 | Bivalent Enhancer | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
4 | chr1:189640800-189641000 | Bivalent Enhancer | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
5 | chr1:189645000-189645400 | Enhancers | Fetal Heart | heart |
6 | chr1:189649600-189650400 | Enhancers | A549 | lung |
7 | chr1:189650200-189651200 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
8 | chr1:189650400-189650600 | Flanking Active TSS | A549 | lung |
9 | chr1:189650400-189651000 | Enhancers | HepG2 | liver |
10 | chr1:189650600-189651000 | Active TSS | A549 | lung |
11 | chr1:189651200-189651600 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
12 | chr1:189651600-189652000 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
13 | chr1:189665400-189666400 | Active TSS | Placenta | Placenta |
14 | chr1:189666400-189666600 | Flanking Active TSS | Placenta | Placenta |
15 | chr1:189675200-189676200 | Enhancers | IMR90 fetal lung fibroblasts Cell Line | lung |
16 | chr1:189678000-189678200 | Enhancers | H1 Derived Mesenchymal Stem Cells | ES cell derived |
17 | chr1:189678000-189678400 | Enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |