Variant report
Variant | esv3337672 |
---|---|
Chromosome Location | chrX:79631856-79678403 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:93)
- CpG islands (count:0)
- Chromatin interactive region (count:2)
- 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 | CEBPB | chrX:79675779-79676069 | K562 | blood: | n/a | chrX:79675893-79675906 |
2 | CEBPB | chrX:79669305-79669515 | K562 | blood: | n/a | n/a |
3 | CEBPB | chrX:79675803-79676060 | IMR90 | lung: | n/a | chrX:79675893-79675906 |
4 | CEBPB | chrX:79638265-79638471 | IMR90 | lung: | n/a | n/a |
5 | CHD2 | chrX:79644223-79644326 | HepG2 | liver: | n/a | n/a |
6 | CTCF | chrX:79659093-79659305 | MCF-7 | breast: | n/a | n/a |
7 | CTCF | chrX:79659111-79659294 | MCF-7 | breast: | n/a | n/a |
8 | CTCF | chrX:79644500-79644650 | HEK293 | kidney: | n/a | n/a |
9 | CTCF | chrX:79659400-79659550 | A549 | lung: | n/a | n/a |
10 | CTCF | chrX:79672642-79672694 | Pancreas_OC | pancreas: | n/a | n/a |
11 | CTCF | chrX:79667600-79667750 | GM12869 | blood: | n/a | n/a |
12 | CTCF | chrX:79658941-79659405 | MCF-7 | breast: | n/a | n/a |
13 | CTCF | chrX:79644452-79644560 | K562 | blood: | n/a | n/a |
14 | CTCF | chrX:79659124-79659295 | MCF-7 | breast: | n/a | n/a |
15 | CTCF | chrX:79675287-79675320 | LNCaP | prostate: | n/a | n/a |
16 | CTCF | chrX:79659171-79659281 | Hela-S3 | cervix: | n/a | n/a |
17 | CTCF | chrX:79659025-79659295 | H1-hESC | embryonic stem cell: | n/a | n/a |
18 | CTCF | chrX:79659060-79659210 | GM12873 | blood: | n/a | n/a |
19 | CTCF | chrX:79644481-79644578 | LNCaP | prostate: | n/a | n/a |
20 | CTCF | chrX:79644416-79644548 | LNCaP | prostate: | n/a | n/a |
21 | CTCF | chrX:79659180-79659330 | A549 | lung: | n/a | n/a |
22 | CTCF | chrX:79644489-79644559 | MCF-7 | breast: | n/a | n/a |
23 | CTCF | chrX:79659150-79659265 | MCF-7 | breast: | n/a | n/a |
24 | CTCF | chrX:79658992-79659028 | GM10266 | blood: | n/a | n/a |
25 | CTCF | chrX:79659140-79659290 | MCF-7 | breast: | n/a | n/a |
26 | CTCF | chrX:79659078-79659317 | K562 | blood: | n/a | n/a |
27 | CTCF | chrX:79659000-79659296 | H1-hESC | embryonic stem cell: | n/a | n/a |
28 | CTCF | chrX:79659080-79659230 | HepG2 | liver: | n/a | n/a |
29 | CTCF | chrX:79659182-79659252 | GM13977 | blood: | n/a | n/a |
30 | CTCF | chrX:79659140-79659290 | HEK293 | kidney: | n/a | n/a |
31 | CTCF | chrX:79644498-79644555 | MCF-7 | breast: | n/a | n/a |
32 | CTCF | chrX:79659140-79659290 | NHEK | skin: | n/a | n/a |
33 | CTCF | chrX:79659066-79659392 | MCF-7 | breast: | n/a | n/a |
34 | CTCF | chrX:79659127-79659276 | LNCaP | prostate: | n/a | n/a |
35 | CTCF | chrX:79642848-79642855 | GM20000 | blood: | n/a | n/a |
36 | CTCF | chrX:79641586-79641635 | Spleen_OC | spleen: | n/a | n/a |
37 | CTCF | chrX:79659185-79659196 | HepG2 | liver: | n/a | n/a |
38 | CTCF | chrX:79659120-79659270 | HEK293 | kidney: | n/a | n/a |
39 | CTCF | chrX:79659206-79659225 | Gliobla | brain: | n/a | n/a |
40 | CTCF | chrX:79659141-79659276 | MCF-7 | breast: | n/a | n/a |
41 | CTCF | chrX:79659149-79659279 | A549 | lung: | n/a | n/a |
42 | CTCF | chrX:79659120-79659270 | BE2_C | brain: | n/a | n/a |
43 | CTCF | chrX:79659079-79659282 | K562 | blood: | n/a | n/a |
44 | CTCF | chrX:79645913-79645955 | LNCaP | prostate: | n/a | n/a |
45 | CTCF | chrX:79633018-79633096 | LNCaP | prostate: | n/a | n/a |
46 | CTCF | chrX:79659100-79659250 | WERI-Rb-1 | eye: | n/a | n/a |
47 | CTCF | chrX:79659000-79659150 | NHEK | skin: | n/a | n/a |
48 | CTCF | chrX:79659140-79659290 | Hela-S3 | cervix: | n/a | n/a |
49 | CTCF | chrX:79644440-79644591 | HepG2 | liver: | n/a | n/a |
50 | CTCF | chrX:79644486-79644541 | MCF-7 | breast: | n/a | n/a |
No data |
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No data |
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Variant related genes | Relation type |
---|---|
FAM46D | TF binding region |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs181324018 | chrX:79643252-79643253 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs113198975 | chrX:79643254-79643255 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs183834163 | chrX:79643303-79643304 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs139062783 | chrX:79643327-79643328 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs373571248 | chrX:79643547-79643548 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs189024276 | chrX:79643746-79643747 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs181421388 | chrX:79643832-79643833 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs142570720 | chrX:79644147-79644148 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs185810760 | chrX:79644152-79644153 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs192057444 | chrX:79644179-79644180 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs150952817 | chrX:79644196-79644197 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs182393070 | chrX:79644220-79644221 | ZNF genes & repeats Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs186123469 | chrX:79644302-79644303 | ZNF genes & repeats Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs139372177 | chrX:79644305-79644306 | ZNF genes & repeats Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs67695623 | chrX:79644358-79644359 | ZNF genes & repeats Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs372762985 | chrX:79644360-79644361 | ZNF genes & repeats Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs558369031 | chrX:79644385-79644386 | ZNF genes & repeats Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs200923141 | chrX:79644399-79644400 | ZNF genes & repeats Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs190884558 | chrX:79644533-79644534 | ZNF genes & repeats Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs12834498 | chrX:79644565-79644566 | ZNF genes & repeats Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs12834502 | chrX:79644567-79644568 | ZNF genes & repeats Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs375096472 | chrX:79644577-79644578 | ZNF genes & repeats Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs12834512 | chrX:79644583-79644584 | ZNF genes & repeats Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs575179496 | chrX:79644693-79644694 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs113436583 | chrX:79644733-79644734 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs373432474 | chrX:79660007-79660008 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
27 | rs181894327 | chrX:79660264-79660265 | Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
28 | rs186155129 | chrX:79660354-79660355 | Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
29 | rs190852730 | chrX:79660376-79660377 | Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
30 | rs182974229 | chrX:79660553-79660554 | Active TSS ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
31 | rs372438362 | chrX:79660606-79660607 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
32 | rs187521861 | chrX:79660677-79660678 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
33 | rs374797969 | chrX:79660705-79660706 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
34 | rs191601329 | chrX:79660721-79660722 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
35 | rs182944525 | chrX:79660782-79660783 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
36 | rs187539244 | chrX:79660823-79660824 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
37 | rs191962021 | chrX:79660937-79660938 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
38 | rs368897710 | chrX:79660986-79660987 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
39 | rs184997794 | chrX:79661119-79661120 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
40 | rs182434518 | chrX:79671544-79671545 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
41 | rs369668058 | chrX:79671600-79671601 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
42 | rs186997119 | chrX:79671671-79671672 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
43 | rs185752470 | chrX:79674650-79674651 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
44 | rs374397147 | chrX:79674682-79674683 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
45 | rs186868110 | chrX:79675909-79675910 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
46 | rs192883177 | chrX:79678249-79678250 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
47 | rs185281557 | chrX:79678262-79678263 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
48 | rs567962817 | chrX:79678278-79678279 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
49 | rs367743178 | chrX:79678325-79678326 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
50 | rs187490942 | chrX:79678354-79678355 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Neuroblastoma | 18923191 | CNVD |
Burkitt''s lymphoma | 20823134 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Astrocytoma | 17387387 | CNVD |
Acute lymphoblastic leukemia | 17690704 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Schizophrenia | 23904455 | CNVD |
Olfactory neuroblastoma | 18408657 | CNVD |
infertile | 22614455 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Autism | 22495311 | CNVD |
Cancer | 20581869 | CNVD |
Multiple myeloma | 20724749 | CNVD |
Non-syndromic sensorineural hearing loss | 18496225 | CNVD |
Prostate cancer | 18632612 | CNVD |
Lung cancer | 18438408 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Follicular lymphoma | 20505157 | CNVD |
primary effusion lymphomas | 17116491 | CNVD |
Testicular germ cell tumor | 18059402 | CNVD |
Testicular cancer | 18059402 | CNVD |
Seminomas | 18059402 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Burkitt''s lymphoma | 18698080 | CNVD |
Breast cancer | 21264507 | CNVD |
Glioblastoma multiforme | 17387387 | CNVD |
Acute lymphoblastic leukemia | 21098271 | CNVD |
Cancer | 22429812 | CNVD |
Cancer | 16751803 | CNVD |
Premature ovarian failure | 20952765 | CNVD |
Astrocytoma | 22246337 | CNVD |
Mental retardation | 17339581 | CNVD |
Breast cancer | 21364760 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Ovarian clear cell carcinoma | 21343371 | CNVD |
Breast cancer | 21611746 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chrX:79643200-79644400 | Enhancers | Fetal Adrenal Gland | Adrenal Gland |
2 | chrX:79643600-79644800 | Enhancers | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
3 | chrX:79643800-79644200 | Enhancers | K562 | blood |
4 | chrX:79644200-79644600 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
5 | chrX:79660000-79660600 | ZNF genes & repeats | iPS-18 Cell Line | embryonic stem cell |
6 | chrX:79660200-79660400 | Enhancers | HUES6 Cell Line | embryonic stem cell |
7 | chrX:79660400-79661200 | Active TSS | ES-I3 Cell Line | embryonic stem cell |
8 | chrX:79660400-79661200 | Active TSS | HUES6 Cell Line | embryonic stem cell |
9 | chrX:79660600-79661200 | Active TSS | HUES64 Cell Line | embryonic stem cell |
10 | chrX:79660600-79661200 | Active TSS | iPS-18 Cell Line | embryonic stem cell |
11 | chrX:79678200-79680400 | Enhancers | K562 | blood |