Variant report
Variant | esv1836687 |
---|---|
Chromosome Location | chr18:12103479-12120030 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:35)
- CpG islands (count:0)
- Chromatin interactive region (count:8)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:35 , 50 per page) page:
1
No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | CEBPB | chr18:12114135-12114617 | HepG2 | liver: | n/a | chr18:12114424-12114435 |
2 | CEBPB | chr18:12119448-12119651 | Hela-S3 | cervix: | n/a | n/a |
3 | CEBPB | chr18:12114213-12114626 | ECC-1 | luminal epithelium: | n/a | chr18:12114424-12114435 |
4 | CEBPB | chr18:12114087-12114596 | K562 | blood: | n/a | chr18:12114424-12114435 |
5 | CEBPB | chr18:12119384-12119757 | K562 | blood: | n/a | n/a |
6 | CEBPB | chr18:12114189-12114605 | IMR90 | lung: | n/a | chr18:12114424-12114435 |
7 | CEBPB | chr18:12114266-12114617 | A549 | lung: | n/a | chr18:12114424-12114435 |
8 | CEBPB | chr18:12114016-12114693 | Hela-S3 | cervix: | n/a | chr18:12114424-12114435 |
9 | CEBPB | chr18:12114060-12114567 | K562 | blood: | n/a | chr18:12114424-12114435 |
10 | CEBPB | chr18:12114288-12114554 | MCF-7 | breast: | n/a | chr18:12114424-12114435 |
11 | CEBPB | chr18:12114307-12114559 | MCF-7 | breast: | n/a | chr18:12114424-12114435 |
12 | CEBPB | chr18:12114249-12114616 | H1-hESC | embryonic stem cell: | n/a | chr18:12114424-12114435 |
13 | CEBPB | chr18:12114201-12114561 | A549 | lung: | n/a | chr18:12114424-12114435 |
14 | CEBPB | chr18:12110506-12111102 | HepG2 | liver: | n/a | n/a |
15 | CEBPB | chr18:12119385-12119733 | K562 | blood: | n/a | n/a |
16 | CTCF | chr18:12112681-12112762 | GM10248 | blood: | n/a | n/a |
17 | CUX1 | chr18:12110696-12110811 | GM12878 | blood: | n/a | n/a |
18 | E2F4 | chr18:12114351-12114595 | MCF10A-Er-Src | breast: | n/a | n/a |
19 | EP300 | chr18:12114078-12114375 | K562 | blood: | n/a | n/a |
20 | EP300 | chr18:12114040-12114570 | Hela-S3 | cervix: | n/a | n/a |
21 | EP300 | chr18:12119995-12119996 | K562 | blood: | n/a | n/a |
22 | FOS | chr18:12110121-12110335 | MCF10A-Er-Src | breast: | n/a | n/a |
23 | KAP1 | chr18:12107712-12107939 | K562 | blood: | n/a | n/a |
24 | KAT2A | chr18:12111326-12111525 | GM12878 | blood: | n/a | n/a |
25 | MAFF | chr18:12107322-12107480 | HepG2 | liver: | n/a | n/a |
26 | MAFK | chr18:12110003-12110126 | HepG2 | liver: | n/a | chr18:12110011-12110022 chr18:12110009-12110023 chr18:12110010-12110026 chr18:12110010-12110021 chr18:12110010-12110025 chr18:12110010-12110021 |
27 | MAFK | chr18:12110038-12110042 | HepG2 | liver: | n/a | n/a |
28 | POLR2A | chr18:12108898-12108995 | Gliobla | brain: | n/a | n/a |
29 | POLR2A | chr18:12112958-12113054 | A549 | lung: | n/a | n/a |
30 | POLR2A | chr18:12113083-12113098 | A549 | lung: | n/a | n/a |
31 | RFX5 | chr18:12114170-12114705 | Hela-S3 | cervix: | n/a | n/a |
32 | STAT3 | chr18:12106142-12106198 | MCF10A-Er-Src | breast: | n/a | n/a |
33 | STAT3 | chr18:12110181-12110201 | MCF10A-Er-Src | breast: | n/a | n/a |
34 | TAL1 | chr18:12119457-12119757 | K562 | blood: | n/a | n/a |
35 | TEAD4 | chr18:12119440-12119744 | K562 | blood: | n/a | n/a |
No data |
(count:8 , 50 per page) page:
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr18:12119299..12121034-chr18:12123082..12124691,2 | K562 | blood: | |
2 | chr18:12107653..12109609-chr18:12114882..12116934,2 | K562 | blood: | |
3 | chr18:12096937..12098826-chr18:12103997..12106538,2 | K562 | blood: | |
4 | chr18:11979089..11980849-chr18:12109709..12111299,2 | K562 | blood: | |
5 | chr18:12097992..12100907-chr18:12104911..12107291,2 | MCF-7 | breast: | |
6 | chr18:12102586..12107654-chr18:12108102..12111487,4 | K562 | blood: | |
7 | chr18:12094191..12096366-chr18:12113967..12116717,2 | MCF-7 | breast: | |
8 | chr18:12107653..12109609-chr18:12114882..12116934,2 | K562 | blood: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000267162 | TF binding region |
ENSG00000181626 | chromatin interactions |
ENSG00000200827 | chromatin interactions |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs566643527 | chr18:12104021-12104022 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
2 | rs145471959 | chr18:12104022-12104023 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
3 | rs114123825 | chr18:12104054-12104055 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
4 | rs574545672 | chr18:12104075-12104076 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
5 | rs535561074 | chr18:12104132-12104133 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
6 | rs556923730 | chr18:12104246-12104247 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
7 | rs137996182 | chr18:12104314-12104315 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
8 | rs141298524 | chr18:12104324-12104325 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
9 | rs564663560 | chr18:12104352-12104353 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
10 | rs12606540 | chr18:12104380-12104381 | Inactive region | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
11 | rs540804138 | chr18:12104430-12104431 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
12 | rs562272669 | chr18:12104461-12104462 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
13 | rs528957284 | chr18:12104511-12104512 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
14 | rs145032176 | chr18:12104525-12104526 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
15 | rs550735869 | chr18:12104531-12104532 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
16 | rs148321718 | chr18:12104544-12104545 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
17 | rs532821938 | chr18:12104563-12104564 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
18 | rs551370617 | chr18:12104621-12104622 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
19 | rs11875591 | chr18:12104638-12104639 | Inactive region | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
20 | rs141439118 | chr18:12104654-12104655 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
21 | rs548724654 | chr18:12104661-12104662 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
22 | rs567161053 | chr18:12104688-12104689 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
23 | rs191213140 | chr18:12104736-12104737 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
24 | rs557058613 | chr18:12104801-12104802 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
25 | rs575581252 | chr18:12104813-12104814 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
26 | rs576150516 | chr18:12104816-12104817 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
27 | rs375845264 | chr18:12104822-12104823 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
28 | rs539419054 | chr18:12104830-12104831 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
29 | rs558157586 | chr18:12104861-12104862 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
30 | rs182788695 | chr18:12104884-12104885 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
31 | rs575735601 | chr18:12104898-12104899 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
32 | rs540937137 | chr18:12104939-12104940 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
33 | rs185741321 | chr18:12104946-12104947 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
34 | rs574331945 | chr18:12105060-12105061 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
35 | rs543443090 | chr18:12105150-12105151 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
36 | rs544303103 | chr18:12105180-12105181 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
37 | rs538483157 | chr18:12105217-12105218 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
38 | rs371702579 | chr18:12105282-12105283 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
39 | rs375055509 | chr18:12105295-12105296 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
40 | rs533068108 | chr18:12105342-12105343 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
41 | rs150818661 | chr18:12105400-12105401 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
42 | rs138346192 | chr18:12105407-12105408 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
43 | rs199658167 | chr18:12105416-12105417 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
44 | rs144057537 | chr18:12105524-12105525 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
45 | rs567100151 | chr18:12105537-12105538 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
46 | rs537682633 | chr18:12105563-12105564 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
47 | rs549965450 | chr18:12105566-12105567 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
48 | rs531475478 | chr18:12105571-12105572 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
49 | rs551736618 | chr18:12105587-12105588 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
50 | rs8093087 | chr18:12105603-12105604 | Inactive region | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
Disease | PMID | Source |
---|---|---|
Chronic lymphocytic leukemia | 21546498 | CNVD |
Intellectual disability | 22102821 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Seminomas | 18059402 | CNVD |
Chronic lymphocytic leukemia | 18922857 | CNVD |
Kartagener syndrome | 16639409 | CNVD |
Basal cell lymphoma | 21115979 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Breast cancer | 21264507 | CNVD |
Cancer | 21183584 | CNVD |
Esophageal squamous carcinoma | 18350619 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Basal cell lymphoma | 17053054 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Human rectal carcinomas | 16397240 | CNVD |
Melanoma | 18172304 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Colorectal cancer | 19150955 | CNVD |
Follicular lymphoma | 20505157 | CNVD |
Chordoma | 21602918 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Neuroblastoma | 18923191 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Cancer | 21637783 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Splenic marginal zone lymphoma | 21957467 | CNVD |
Trisomy 18 syndrome | 17576883 | CNVD |
Autism | 20808228 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Barrett''s syndrome | 19417022 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Multiple myeloma | 17550852 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Breast cancer | 21364760 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Heart disease | 21282601 | CNVD |
Glioblastoma multiforme | 21922591 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
low-grade B-cell lymphoma tumor | 18367492 | CNVD |
Acute myeloid leukemia | 17377590 | CNVD |
Acute lymphoblastic leukemia | 17690704 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Acute lymphoblastic leukemia | 21339820 | CNVD |
Developmental delay | 21147756 | CNVD |
Lung cancer | 18438408 | CNVD |
Breast cancer | 16620391 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Retinoblastoma | 21504564 | CNVD |
Glioma | 17123091 | CNVD |
Neurodevelopmental disorder | 22521361 | CNVD |
Autism | 20531469 | CNVD |
Breast cancer | 22522925 | CNVD |
Non-syndromic sensorineural hearing loss | 19212409 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr18:12110200-12111600 | Enhancers | Liver | Liver |
2 | chr18:12111600-12114400 | Weak transcription | Liver | Liver |
3 | chr18:12113400-12114200 | Enhancers | Pancreas | Pancrea |
4 | chr18:12114000-12114800 | Enhancers | Breast Myoepithelial Primary Cells | Breast |
5 | chr18:12114000-12114800 | Enhancers | Hela-S3 | cervix |
6 | chr18:12114200-12130600 | Weak transcription | Pancreas | Pancrea |
7 | chr18:12114400-12115800 | Enhancers | Liver | Liver |