Variant report
Variant | nsv897336 |
---|---|
Chromosome Location | chr11:48387275-48504596 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:231)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- 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 | BCL3 | chr11:48393835-48394182 | GM12878 | blood: | n/a | n/a |
2 | CEBPB | chr11:48497081-48497188 | IMR90 | lung: | n/a | n/a |
3 | CEBPB | chr11:48477489-48477840 | A549 | lung: | n/a | n/a |
4 | CEBPB | chr11:48477483-48477823 | HepG2 | liver: | n/a | n/a |
5 | CEBPB | chr11:48477613-48477707 | K562 | blood: | n/a | n/a |
6 | CEBPB | chr11:48477506-48477722 | Hela-S3 | cervix: | n/a | n/a |
7 | CEBPB | chr11:48477500-48477793 | IMR90 | lung: | n/a | n/a |
8 | CEBPB | chr11:48477590-48477827 | H1-hESC | embryonic stem cell: | n/a | n/a |
9 | CTCF | chr11:48406345-48406533 | GM12891 | blood: | n/a | n/a |
10 | CTCF | chr11:48479011-48479096 | Fibrobl | skin: | n/a | n/a |
11 | CTCF | chr11:48440733-48440772 | Kidney_OC | kidney: | n/a | n/a |
12 | CTCF | chr11:48406358-48406515 | GM19239 | blood: | n/a | n/a |
13 | CTCF | chr11:48406380-48406477 | Fibrobl | skin: | n/a | n/a |
14 | CTCF | chr11:48406340-48406490 | GM06990 | blood: | n/a | n/a |
15 | CTCF | chr11:48429107-48429194 | LNCaP | prostate: | n/a | n/a |
16 | CTCF | chr11:48387380-48387530 | HMF | breast: | n/a | n/a |
17 | CTCF | chr11:48477962-48478148 | MCF-7 | breast: | n/a | n/a |
18 | CTCF | chr11:48387445-48387596 | MCF-7 | breast: | n/a | n/a |
19 | CTCF | chr11:48406400-48406550 | SK-N-SH_RA | brain: | n/a | n/a |
20 | CTCF | chr11:48406380-48406530 | HFF-Myc | foreskin: | n/a | n/a |
21 | CTCF | chr11:48406340-48406490 | WERI-Rb-1 | eye: | n/a | n/a |
22 | CTCF | chr11:48406440-48406590 | NHEK | skin: | n/a | n/a |
23 | CTCF | chr11:48387466-48387587 | MCF-7 | breast: | n/a | n/a |
24 | CTCF | chr11:48387501-48387576 | A549 | lung: | n/a | n/a |
25 | CTCF | chr11:48406362-48406483 | NHEK | skin: | n/a | n/a |
26 | CTCF | chr11:48406347-48406528 | H1-hESC | embryonic stem cell: | n/a | n/a |
27 | CTCF | chr11:48406380-48406530 | NB4 | blood: | n/a | n/a |
28 | CTCF | chr11:48406345-48406538 | GM19238 | blood: | n/a | n/a |
29 | CTCF | chr11:48406360-48406510 | GM12868 | blood: | n/a | n/a |
30 | CTCF | chr11:48406380-48406530 | HL-60 | blood: | n/a | n/a |
31 | CTCF | chr11:48387400-48387550 | A549 | lung: | n/a | n/a |
32 | CTCF | chr11:48478000-48478150 | HEK293 | kidney: | n/a | n/a |
33 | CTCF | chr11:48406360-48406510 | GM12871 | blood: | n/a | n/a |
34 | CTCF | chr11:48387380-48387530 | GM12873 | blood: | n/a | n/a |
35 | CTCF | chr11:48399643-48399667 | MCF-7 | breast: | n/a | n/a |
36 | CTCF | chr11:48477977-48478225 | LNCaP | prostate: | n/a | n/a |
37 | CTCF | chr11:48478020-48478170 | A549 | lung: | n/a | n/a |
38 | CTCF | chr11:48406321-48406528 | K562 | blood: | n/a | n/a |
39 | CTCF | chr11:48387519-48387561 | HepG2 | liver: | n/a | n/a |
40 | CTCF | chr11:48406380-48406530 | WI-38 | lung: | n/a | n/a |
41 | CTCF | chr11:48406360-48406510 | Caco-2 | colon: | n/a | n/a |
42 | CTCF | chr11:48406400-48406550 | HBMEC | blood vessel: | n/a | n/a |
43 | CTCF | chr11:48406380-48406530 | MCF-7 | breast: | n/a | n/a |
44 | CTCF | chr11:48387640-48387790 | GM12878 | blood: | n/a | n/a |
45 | CTCF | chr11:48406367-48406497 | SK-N-SH_RA | brain: | n/a | n/a |
46 | CTCF | chr11:48387420-48387570 | HepG2 | liver: | n/a | n/a |
47 | CTCF | chr11:48387460-48387610 | GM12875 | blood: | n/a | n/a |
48 | CTCF | chr11:48406360-48406510 | SK-N-SH_RA | brain: | n/a | n/a |
49 | CTCF | chr11:48406360-48406510 | HepG2 | liver: | n/a | n/a |
50 | CTCF | chr11:48406322-48406487 | K562 | blood: | n/a | n/a |
No data |
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr11:48478071..48478587-chr11:49191267..49191777,2 | MCF-7 | breast: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
OR4C9P | TF binding region |
OR4C10P | TF binding region |
OR4C2P | TF binding region |
OR4C5 | TF binding region |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs10838881 | chr11:48387275-48387276 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
2 | rs139139147 | chr11:48387278-48387279 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
3 | rs76306144 | chr11:48387279-48387280 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
4 | rs369896820 | chr11:48387285-48387286 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
5 | rs76220342 | chr11:48387301-48387302 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
6 | rs540969683 | chr11:48387307-48387308 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
7 | rs73460769 | chr11:48387335-48387336 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
8 | rs560621031 | chr11:48387343-48387344 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
9 | rs73460771 | chr11:48387354-48387355 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
10 | rs73460772 | chr11:48387370-48387371 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
11 | rs546041572 | chr11:48387376-48387377 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
12 | rs563015644 | chr11:48387412-48387413 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
13 | rs61917478 | chr11:48387424-48387425 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
14 | rs77144540 | chr11:48387490-48387491 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
15 | rs72898882 | chr11:48387506-48387507 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
16 | rs531718545 | chr11:48387518-48387519 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
17 | rs78378263 | chr11:48387526-48387527 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
18 | rs72898883 | chr11:48387535-48387536 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
19 | rs72898885 | chr11:48387540-48387541 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
20 | rs527674874 | chr11:48387569-48387570 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
21 | rs78299098 | chr11:48387580-48387581 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
22 | rs75027745 | chr11:48387582-48387583 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
23 | rs75821991 | chr11:48387584-48387585 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
24 | rs146834236 | chr11:48387590-48387591 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
25 | rs75297075 | chr11:48387591-48387592 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
26 | rs554773218 | chr11:48387595-48387596 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
27 | rs72898886 | chr11:48387604-48387605 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
28 | rs569015234 | chr11:48387627-48387628 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
29 | rs140665145 | chr11:48387628-48387629 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
30 | rs73460777 | chr11:48387630-48387631 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
31 | rs554698444 | chr11:48387632-48387633 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
32 | rs75615667 | chr11:48387647-48387648 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
33 | rs533724202 | chr11:48387656-48387657 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
34 | rs151060469 | chr11:48387663-48387664 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
35 | rs10769651 | chr11:48387668-48387669 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
36 | rs76209049 | chr11:48387679-48387680 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
37 | rs67755516 | chr11:48387684-48387685 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
38 | rs79526328 | chr11:48387687-48387688 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
39 | rs75371569 | chr11:48387689-48387690 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
40 | rs34926479 | chr11:48387705-48387706 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
41 | rs577432467 | chr11:48387724-48387725 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
42 | rs546454963 | chr11:48387736-48387737 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
43 | rs73460780 | chr11:48387737-48387738 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
44 | rs74557904 | chr11:48387757-48387758 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
45 | rs76329018 | chr11:48387780-48387781 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
46 | rs80222485 | chr11:48387789-48387790 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
47 | rs75650204 | chr11:48387825-48387826 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
48 | rs79515387 | chr11:48387833-48387834 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
49 | rs73460781 | chr11:48387850-48387851 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
50 | rs556514578 | chr11:48387855-48387856 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Parathyroid adenoma | 22454399 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Chordoma | 21602918 | CNVD |
Breast cancer | 21949216 | CNVD |
Cancer | 21637783 | CNVD |
Non-syndromic sensorineural hearing loss | 19222835 | CNVD |
T-cell acute lymphoblastic leukemia | 20065082 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Astrocytoma | 17387387 | CNVD |
Breast cancer | 21264507 | CNVD |
Beckwith-Wiedemann syndrome | 21518781 | CNVD |
Wilms tumour | 21518781 | CNVD |
Hepatoblastoma | 21518781 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Gastrointestinal stromal cancer | 17535989 | CNVD |
Paraganglioma | 17535989 | CNVD |
Pulmonary chondroma | 17535989 | CNVD |
Wilms tumour | 21544195 | CNVD |
Gastric cancer | 17908304 | CNVD |
Multiple myeloma | 20724749 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Autism | 22495311 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Non-small cell lung cancer | 21385341 | CNVD |
Intellectual disability | 22102821 | CNVD |
Renal cell carcinoma | 18194544 | CNVD |
Breast cancer | 17603634 | CNVD |
Chordoma | 18071362 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Potocki-Shaffer syndrome | 19222835 | CNVD |
WAGR syndrome | 19222835 | CNVD |
Lung cancer | 18438408 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Melanoma | 18172304 | CNVD |
Intracranial ependymoma | 16609018 | CNVD |
Myxofibrosarcoma | 16751306 | CNVD |
Potocki-Shaffer syndrome | 22470819 | CNVD |
Neurodevelopmental disorder | 22521361 | CNVD |
Breast cancer | 16608533 | CNVD |
Hirschsprung''s Disease | 21712996 | CNVD |
Follicular lymphoma | 20505157 | CNVD |
Colorectal cancer | 21128281 | CNVD |
Breast cancer | 20409316 | CNVD |
Neurocytoma | 17123091 | CNVD |
Central neurocytomas | 17123091 | CNVD |
Multiple myeloma | 16616336 | CNVD |
Cancer | 17160897 | CNVD |
Mantle cell lymphoma | 19029149 | CNVD |
Glioblastoma multiforme | 21138945 | CNVD |
Breast cancer | 21364760 | CNVD |
Prostate cancer | 18632612 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Acute lymphoblastic leukemia | 22581003 | CNVD |
Breast cancer | 21990379 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
Schizophrenia | 20967226 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Breast cancer | 22522925 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr11:48382200-48388400 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
2 | chr11:48400000-48401600 | ZNF genes & repeats | Liver | Liver |
3 | chr11:48404600-48405800 | ZNF genes & repeats | Adipose Nuclei | Adipose |
4 | chr11:48413000-48413400 | Enhancers | Primary T helper 17 cells PMA-I stimulated | -- |