Variant report
Variant | nsv976608 |
---|---|
Chromosome Location | chr12:48558446-48563571 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:230)
- CpG islands (count:183)
- Chromatin interactive region (count:14)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr12:48562663-48562713 | Caco-2 | colon: | n/a |
2 | chr12:48563095-48563145 | ProgFib | skin: | n/a |
3 | chr12:48562943-48562993 | HRPEpiC | eye: | n/a |
4 | chr12:48562663-48562713 | AG09319 | gingival: | n/a |
5 | chr12:48563095-48563145 | AoSMC | blood vessel: | n/a |
6 | chr12:48562943-48562993 | PrEC | prostate: | n/a |
7 | chr12:48563095-48563145 | HRCEpiC | kidney: | n/a |
8 | chr12:48562943-48562993 | HPAEpiC | pulmonary alveolar: | n/a |
9 | chr12:48562943-48562993 | AG04449 | skin: | fetal |
10 | chr12:48563095-48563145 | Jurkat | blood: | n/a |
11 | chr12:48563095-48563145 | HCF | heart: | n/a |
12 | chr12:48563095-48563145 | SK-N-SH_RA | brain: | n/a |
13 | chr12:48562943-48562993 | AoSMC | blood vessel: | n/a |
14 | chr12:48563095-48563145 | AG10803 | skin: | n/a |
15 | chr12:48562663-48562713 | HepG2 | liver: | n/a |
16 | chr12:48563095-48563145 | BE2_C | brain: | n/a |
17 | chr12:48562943-48562993 | NH-A | brain: | n/a |
18 | chr12:48563095-48563145 | AG09319 | gingival: | n/a |
19 | chr12:48562663-48562713 | H1-hESC | embryonic stem cell: | embryo |
20 | chr12:48562663-48562713 | HNPCEpiC | eye: | n/a |
21 | chr12:48562663-48562713 | HUVEC | blood vessel: | n/a |
22 | chr12:48563095-48563145 | AG09309 | skin: | n/a |
23 | chr12:48562943-48562993 | CMK | blood: | n/a |
24 | chr12:48562663-48562713 | LNCaP | prostate: | n/a |
25 | chr12:48562663-48562713 | HIPEpiC | eye: | n/a |
26 | chr12:48562663-48562713 | NHDF-neo | bronchial: | n/a |
27 | chr12:48563095-48563145 | CMK | blood: | n/a |
28 | chr12:48563095-48563145 | Caco-2 | colon: | n/a |
29 | chr12:48562943-48562993 | NB4 | blood: | n/a |
30 | chr12:48562943-48562993 | Jurkat | blood: | n/a |
31 | chr12:48563095-48563145 | NB4 | blood: | n/a |
32 | chr12:48563095-48563145 | NT2-D1 | testis: | n/a |
33 | chr12:48562663-48562713 | Hela-S3 | cervix: | n/a |
34 | chr12:48563095-48563145 | GM19239 | blood: | n/a |
35 | chr12:48562663-48562713 | HRE | kidney: | n/a |
36 | chr12:48563095-48563145 | U87 | brain: | n/a |
37 | chr12:48562663-48562713 | BE2_C | brain: | n/a |
38 | chr12:48562943-48562993 | GM19239 | blood: | n/a |
39 | chr12:48562943-48562993 | Caco-2 | colon: | n/a |
40 | chr12:48562663-48562713 | HEEpiC | esophagus: | n/a |
41 | chr12:48562943-48562993 | PFSK-1 | brain: | n/a |
42 | chr12:48562663-48562713 | SK-N-MC | brain: | n/a |
43 | chr12:48562943-48562993 | HEK293 | kidney: | embryo |
44 | chr12:48562943-48562993 | HEEpiC | esophagus: | n/a |
45 | chr12:48562943-48562993 | GM12878 | blood: | n/a |
46 | chr12:48563095-48563145 | NHBE | bronchial: | n/a |
47 | chr12:48562663-48562713 | SKMC | muscle: | n/a |
48 | chr12:48562663-48562713 | HMEC | breast: | n/a |
49 | chr12:48562943-48562993 | HCF | heart: | n/a |
50 | chr12:48562663-48562713 | BJ | skin: | n/a |
(count:14 , 50 per page) page:
1
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr12:48559108..48559625-chr12:48848164..48848665,2 | MCF-7 | breast: | |
2 | chr12:48239241..48242168-chr12:48557559..48560161,2 | K562 | blood: | |
3 | chr12:48549808..48555740-chr12:48556420..48560606,6 | K562 | blood: | |
4 | chr12:48500571..48503072-chr12:48556879..48559027,2 | K562 | blood: | |
5 | chr12:48477561..48478652-chr12:48558658..48559651,7 | MCF-7 | breast: | |
6 | chr12:48551148..48552785-chr12:48562414..48564360,2 | MCF-7 | breast: | |
7 | chr12:48298747..48299610-chr12:48558705..48559281,2 | MCF-7 | breast: | |
8 | chr12:48336001..48336747-chr12:48558620..48559352,3 | K562 | blood: | |
9 | chr12:48477632..48478212-chr12:48558666..48559592,2 | MCF-7 | breast: | |
10 | chr12:48477424..48478020-chr12:48558629..48559212,2 | K562 | blood: | |
11 | chr12:48559054..48559616-chr12:48570377..48571168,2 | K562 | blood: | |
12 | chr12:48515800..48518794-chr12:48562400..48565355,2 | K562 | blood: | |
13 | chr12:48559402..48559905-chr12:48574920..48575635,2 | MCF-7 | breast: | |
14 | chr12:48549682..48552268-chr12:48561692..48563746,2 | K562 | blood: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000258051 | TF binding region |
ENSG00000257885 | TF binding region |
ENSG00000257848 | TF binding region |
ENSG00000258051 | CpG island |
ENSG00000257885 | CpG island |
ENSG00000257848 | CpG island |
ENSG00000177981 | chromatin interactions |
ENSG00000111424 | chromatin interactions |
ENSG00000258051 | chromatin interactions |
ENSG00000152556 | chromatin interactions |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs187843945 | chr12:48558460-48558461 | Enhancers Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
2 | rs554848701 | chr12:48558463-48558464 | Enhancers Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
3 | rs569670781 | chr12:48558478-48558479 | Enhancers Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
4 | rs535565378 | chr12:48558492-48558493 | Enhancers Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
5 | rs555547839 | chr12:48558508-48558509 | Enhancers Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
6 | rs546899407 | chr12:48558514-48558515 | Enhancers Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
7 | rs75873480 | chr12:48558515-48558516 | Enhancers Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
8 | rs76156431 | chr12:48558526-48558527 | Enhancers Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | mRNA abundance |
9 | rs533774941 | chr12:48558586-48558587 | Enhancers Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
10 | rs192779857 | chr12:48558645-48558646 | Enhancers Weak transcription | TF binding regionChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
11 | rs577104471 | chr12:48558735-48558736 | Enhancers Weak transcription | TF binding regionChromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
12 | rs546072257 | chr12:48558750-48558751 | Enhancers Weak transcription | TF binding regionChromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
13 | rs149101968 | chr12:48558758-48558759 | Enhancers Weak transcription | TF binding regionChromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
14 | rs184817883 | chr12:48558762-48558763 | Enhancers Weak transcription | TF binding regionChromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
15 | rs190091978 | chr12:48558817-48558818 | Enhancers Weak transcription | TF binding regionChromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
16 | rs543392274 | chr12:48558844-48558845 | Enhancers Weak transcription | TF binding regionChromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
17 | rs192039646 | chr12:48558845-48558846 | Enhancers Weak transcription | TF binding regionChromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
18 | rs12822979 | chr12:48558852-48558853 | Enhancers Weak transcription | TF binding regionChromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
19 | rs12822484 | chr12:48558853-48558854 | Enhancers Weak transcription | TF binding regionChromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
20 | rs12822503 | chr12:48558876-48558877 | Enhancers Weak transcription | TF binding regionChromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
21 | rs145701755 | chr12:48558915-48558916 | Enhancers Weak transcription | TF binding regionChromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
22 | rs12823185 | chr12:48558917-48558918 | Enhancers Weak transcription | TF binding regionChromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
23 | rs561656163 | chr12:48558958-48558959 | Enhancers Weak transcription | TF binding regionChromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
24 | rs527364575 | chr12:48559056-48559057 | Enhancers | TF binding regionChromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
25 | rs149014863 | chr12:48559065-48559066 | Enhancers | TF binding regionChromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
26 | rs142974854 | chr12:48559084-48559085 | Enhancers | TF binding regionChromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
27 | rs558160460 | chr12:48559111-48559112 | Enhancers | TF binding regionChromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
28 | rs572163762 | chr12:48559152-48559153 | Enhancers | TF binding regionChromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
29 | rs531494863 | chr12:48559171-48559172 | Enhancers | TF binding regionChromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
30 | rs576493779 | chr12:48559179-48559180 | Enhancers | TF binding regionChromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
31 | rs184969202 | chr12:48559217-48559218 | Inactive region | TF binding regionChromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
32 | rs540734119 | chr12:48559251-48559252 | Inactive region | TF binding regionChromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
33 | rs550021145 | chr12:48559255-48559256 | Inactive region | TF binding regionChromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
34 | rs569730395 | chr12:48559298-48559299 | Inactive region | TF binding regionChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
35 | rs529221778 | chr12:48559372-48559373 | Inactive region | TF binding regionChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
36 | rs560264326 | chr12:48559374-48559375 | Inactive region | TF binding regionChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
37 | rs146619488 | chr12:48559388-48559389 | Inactive region | TF binding regionChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
38 | rs113509134 | chr12:48559432-48559433 | Enhancers | TF binding regionChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
39 | rs535110945 | chr12:48559434-48559435 | Enhancers | TF binding regionChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
40 | rs553732304 | chr12:48559438-48559439 | Enhancers | TF binding regionChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
41 | rs527881129 | chr12:48559442-48559443 | Enhancers | TF binding regionChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
42 | rs145350695 | chr12:48559458-48559459 | Enhancers | TF binding regionChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
43 | rs542892139 | chr12:48559460-48559461 | Enhancers | TF binding regionChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
44 | rs539757901 | chr12:48559472-48559473 | Enhancers | TF binding regionChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
45 | rs59339937 | chr12:48559528-48559529 | Enhancers | TF binding regionChromatin interactive region | 2 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
46 | rs4760620 | chr12:48559642-48559643 | Inactive region | Chromatin interactive region | 2 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
47 | rs541495284 | chr12:48559675-48559676 | Inactive region | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
48 | rs555332254 | chr12:48559676-48559677 | Inactive region | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
49 | rs531939006 | chr12:48559710-48559711 | Inactive region | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
50 | rs73302875 | chr12:48559785-48559786 | Inactive region | Chromatin interactive region | 2 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 |
T-cell prolymphocytic leukemia | 17713554 | 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 |
Anaplastic thyroid cancer | 18753363 | CNVD |
Breast cancer | 21785460 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Intracranial ependymoma | 16609018 | CNVD |
Breast cancer | 22522925 | CNVD |
Melanoma | 20877625 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr12:48557000-48559200 | Enhancers | Cortex derived primary cultured neurospheres | brain |
2 | chr12:48557200-48559000 | Enhancers | Ganglion Eminence derived primary cultured neurospheres | brain |
3 | chr12:48557400-48559000 | Enhancers | Skeletal Muscle Male | skeletal muscle |
4 | chr12:48557800-48558800 | Weak transcription | Foreskin Melanocyte Primary Cells skin03 | Skin |
5 | chr12:48558000-48558600 | Weak transcription | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
6 | chr12:48558400-48559000 | Enhancers | Breast Myoepithelial Primary Cells | Breast |
7 | chr12:48558400-48559000 | Weak transcription | Foreskin Melanocyte Primary Cells skin01 | Skin |
8 | chr12:48558800-48559000 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
9 | chr12:48558800-48559000 | Enhancers | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
10 | chr12:48558800-48559200 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
11 | chr12:48559000-48559200 | Enhancers | Foreskin Melanocyte Primary Cells skin01 | Skin |
12 | chr12:48559400-48559600 | Enhancers | HepG2 | liver |
13 | chr12:48561400-48561600 | Bivalent Enhancer | Primary T helper memory cells from peripheral blood 2 | blood |
14 | chr12:48561600-48561800 | Active TSS | Primary T helper memory cells from peripheral blood 2 | blood |
15 | chr12:48562600-48563000 | Bivalent/Poised TSS | HepG2 | liver |
16 | chr12:48562600-48563200 | Enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |