Variant report
Variant | esv1808859 |
---|---|
Chromosome Location | chr5:17599577-17681091 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:554)
- CpG islands (count:793)
- Chromatin interactive region (count:4)
- LncRNA region (count:2)
- 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 | BACH1 | chr5:17680992-17681026 | K562 | blood: | n/a | n/a |
2 | BATF | chr5:17633076-17633247 | GM12878 | blood: | n/a | n/a |
3 | BATF | chr5:17599128-17599665 | GM12878 | blood: | n/a | n/a |
4 | BATF | chr5:17632734-17632883 | GM12878 | blood: | n/a | n/a |
5 | BATF | chr5:17633718-17634065 | GM12878 | blood: | n/a | n/a |
6 | BATF | chr5:17633787-17633984 | GM12878 | blood: | n/a | n/a |
7 | BATF | chr5:17631481-17631659 | GM12878 | blood: | n/a | n/a |
8 | BATF | chr5:17632271-17632495 | GM12878 | blood: | n/a | n/a |
9 | BATF | chr5:17599390-17599669 | GM12878 | blood: | n/a | n/a |
10 | BATF | chr5:17632982-17633256 | GM12878 | blood: | n/a | n/a |
11 | BCL11A | chr5:17632345-17632599 | GM12878 | blood: | n/a | n/a |
12 | BCL11A | chr5:17633804-17633992 | GM12878 | blood: | n/a | n/a |
13 | BCL11A | chr5:17632681-17633248 | GM12878 | blood: | n/a | n/a |
14 | BCL11A | chr5:17632985-17633183 | GM12878 | blood: | n/a | n/a |
15 | BCL11A | chr5:17611537-17611688 | GM12878 | blood: | n/a | n/a |
16 | BCL11A | chr5:17632274-17632459 | GM12878 | blood: | n/a | n/a |
17 | BCL11A | chr5:17633698-17634114 | GM12878 | blood: | n/a | n/a |
18 | BCL11A | chr5:17599100-17599747 | GM12878 | blood: | n/a | n/a |
19 | BCL11A | chr5:17599180-17599635 | GM12878 | blood: | n/a | n/a |
20 | BCL11A | chr5:17633500-17633675 | GM12878 | blood: | n/a | chr5:17633654-17633663 |
21 | BHLHE40 | chr5:17599303-17599740 | HepG2 | liver: | n/a | n/a |
22 | BRCA1 | chr5:17604171-17604191 | Hela-S3 | cervix: | n/a | n/a |
23 | BRCA1 | chr5:17679984-17680257 | Hela-S3 | cervix: | n/a | n/a |
24 | BRCA1 | chr5:17619469-17619905 | Hela-S3 | cervix: | n/a | n/a |
25 | CEBPB | chr5:17680008-17680237 | ECC-1 | luminal epithelium: | n/a | chr5:17680161-17680172 |
26 | CEBPB | chr5:17667048-17667244 | IMR90 | lung: | n/a | n/a |
27 | CEBPB | chr5:17635259-17635326 | HepG2 | liver: | n/a | n/a |
28 | CEBPB | chr5:17676850-17677041 | IMR90 | lung: | n/a | chr5:17676912-17676923 |
29 | CEBPB | chr5:17679987-17680283 | HepG2 | liver: | n/a | chr5:17680161-17680172 |
30 | CEBPB | chr5:17680006-17680300 | IMR90 | lung: | n/a | chr5:17680161-17680172 |
31 | CEBPB | chr5:17608320-17608447 | HepG2 | liver: | n/a | n/a |
32 | CEBPB | chr5:17679962-17680276 | A549 | lung: | n/a | chr5:17680161-17680172 |
33 | CEBPB | chr5:17679981-17680265 | ECC-1 | luminal epithelium: | n/a | chr5:17680161-17680172 |
34 | CEBPB | chr5:17676882-17676947 | K562 | blood: | n/a | chr5:17676912-17676923 |
35 | CEBPB | chr5:17620819-17620999 | H1-hESC | embryonic stem cell: | n/a | n/a |
36 | CEBPB | chr5:17608403-17608567 | K562 | blood: | n/a | n/a |
37 | CEBPB | chr5:17679832-17680634 | Hela-S3 | cervix: | n/a | chr5:17680161-17680172 |
38 | CEBPB | chr5:17679822-17680468 | A549 | lung: | n/a | chr5:17680161-17680172 |
39 | CEBPB | chr5:17601220-17601489 | HepG2 | liver: | n/a | chr5:17601324-17601335 |
40 | CEBPB | chr5:17676818-17677046 | A549 | lung: | n/a | chr5:17676912-17676923 |
41 | CEBPB | chr5:17679965-17680281 | MCF-7 | breast: | n/a | chr5:17680161-17680172 |
42 | CEBPB | chr5:17667008-17667264 | A549 | lung: | n/a | n/a |
43 | CEBPB | chr5:17619420-17619916 | Hela-S3 | cervix: | n/a | n/a |
44 | CEBPB | chr5:17676779-17677058 | HepG2 | liver: | n/a | chr5:17676912-17676923 |
45 | CEBPB | chr5:17679986-17680295 | A549 | lung: | n/a | chr5:17680161-17680172 |
46 | CHD2 | chr5:17619453-17619830 | Hela-S3 | cervix: | n/a | n/a |
47 | CHD2 | chr5:17620896-17621048 | H1-hESC | embryonic stem cell: | n/a | n/a |
48 | CHD2 | chr5:17679972-17680355 | Hela-S3 | cervix: | n/a | n/a |
49 | CHD2 | chr5:17604172-17604194 | Hela-S3 | cervix: | n/a | n/a |
50 | CTCF | chr5:17670460-17670610 | HEK293 | kidney: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr5:17654594-17654644 | GM19239 | blood: | n/a |
2 | chr5:17634462-17634512 | HEEpiC | esophagus: | n/a |
3 | chr5:17633640-17633690 | MCF-7 | breast: | n/a |
4 | chr5:17664567-17664617 | HepG2 | liver: | n/a |
5 | chr5:17631696-17631746 | AG09319 | gingival: | n/a |
6 | chr5:17670475-17670525 | GM12892 | blood: | n/a |
7 | chr5:17632536-17632586 | HCPEpiC | choroid plexus: | n/a |
8 | chr5:17654594-17654644 | HEEpiC | esophagus: | n/a |
9 | chr5:17604867-17604917 | ovcar-3 | ovarian: | n/a |
10 | chr5:17632043-17632093 | HRCEpiC | kidney: | n/a |
11 | chr5:17604867-17604917 | RPTEC | kidney: | n/a |
12 | chr5:17664567-17664617 | SK-N-SH_RA | brain: | n/a |
13 | chr5:17664567-17664617 | GM06990 | blood: | n/a |
14 | chr5:17632536-17632586 | K562 | blood: | n/a |
15 | chr5:17632043-17632093 | SK-N-MC | brain: | n/a |
16 | chr5:17656637-17656687 | GM12891 | blood: | n/a |
17 | chr5:17632557-17632607 | HPAEpiC | pulmonary alveolar: | n/a |
18 | chr5:17634462-17634512 | HRE | kidney: | n/a |
19 | chr5:17633640-17633690 | PrEC | prostate: | n/a |
20 | chr5:17634462-17634512 | MCF-7 | breast: | n/a |
21 | chr5:17656637-17656687 | SKMC | muscle: | n/a |
22 | chr5:17670442-17670492 | HUVEC | blood vessel: | n/a |
23 | chr5:17634462-17634512 | NB4 | blood: | n/a |
24 | chr5:17654594-17654644 | SKMC | muscle: | n/a |
25 | chr5:17654594-17654644 | HPAEpiC | pulmonary alveolar: | n/a |
26 | chr5:17632536-17632586 | HRE | kidney: | n/a |
27 | chr5:17634462-17634512 | HCM | heart: | n/a |
28 | chr5:17655356-17655406 | GM12892 | blood: | n/a |
29 | chr5:17632557-17632607 | NT2-D1 | testis: | n/a |
30 | chr5:17664567-17664617 | NHBE | bronchial: | n/a |
31 | chr5:17631696-17631746 | GM06990 | blood: | n/a |
32 | chr5:17632043-17632093 | Jurkat | blood: | n/a |
33 | chr5:17670475-17670525 | PFSK-1 | brain: | n/a |
34 | chr5:17633640-17633690 | HCT-116 | colon: | n/a |
35 | chr5:17631696-17631746 | AG04450 | lung: | fetal |
36 | chr5:17604867-17604917 | AG09319 | gingival: | n/a |
37 | chr5:17631696-17631746 | LNCaP | prostate: | n/a |
38 | chr5:17670475-17670525 | HAEpiC | amniotic membrane: | n/a |
39 | chr5:17632557-17632607 | HRPEpiC | eye: | n/a |
40 | chr5:17670442-17670492 | BE2_C | brain: | n/a |
41 | chr5:17632536-17632586 | HEEpiC | esophagus: | n/a |
42 | chr5:17664567-17664617 | ovcar-3 | ovarian: | n/a |
43 | chr5:17632043-17632093 | AG04450 | lung: | fetal |
44 | chr5:17631696-17631746 | RPTEC | kidney: | n/a |
45 | chr5:17631696-17631746 | SK-N-MC | brain: | n/a |
46 | chr5:17634462-17634512 | PANC-1 | pancreas: | n/a |
47 | chr5:17632557-17632607 | BE2_C | brain: | n/a |
48 | chr5:17656637-17656687 | A549 | lung: | n/a |
49 | chr5:17656637-17656687 | HL-60 | blood: | n/a |
50 | chr5:17655356-17655406 | CMK | blood: | n/a |
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr5:17635261..17638059-chr5:17641232..17643907,2 | MCF-7 | breast: | |
2 | chr5:17644806..17646667-chr5:17648582..17651312,2 | MCF-7 | breast: | |
3 | chr5:17216395..17218536-chr5:17655025..17657774,2 | MCF-7 | breast: | |
4 | chr5:17632983..17635813-chr5:17637711..17640599,2 | K562 | blood: |
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-MYO10-19 | chr5:17654482-17654752 | NONHSAT100661 |
2 | lnc-MYO10-17 | chr5:17643071-17643337 | NONHSAT100659 |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000248542 | TF binding region |
ENSG00000249282 | TF binding region |
ENSG00000248471 | TF binding region |
ENSG00000248422 | TF binding region |
ENSG00000269466 | TF binding region |
ENSG00000271296 | TF binding region |
ENSG00000250386 | TF binding region |
ENSG00000250351 | TF binding region |
ENSG00000250715 | TF binding region |
ENSG00000249329 | TF binding region |
ENSG00000249666 | TF binding region |
ENSG00000249357 | TF binding region |
ENSG00000249156 | TF binding region |
ENSG00000248337 | TF binding region |
ENSG00000248160 | TF binding region |
ENSG00000250782 | TF binding region |
ENSG00000249937 | TF binding region |
ENSG00000248542 | CpG island |
ENSG00000249282 | CpG island |
ENSG00000248471 | CpG island |
ENSG00000248422 | CpG island |
ENSG00000269466 | CpG island |
ENSG00000271296 | CpG island |
ENSG00000250386 | CpG island |
ENSG00000250351 | CpG island |
ENSG00000250715 | CpG island |
ENSG00000249329 | CpG island |
ENSG00000249666 | CpG island |
ENSG00000249357 | CpG island |
ENSG00000249156 | CpG island |
ENSG00000248337 | CpG island |
ENSG00000248160 | CpG island |
ENSG00000250782 | CpG island |
ENSG00000249937 | CpG island |
ENSG00000215196 | chromatin interactions |
ENSG00000248471 | chromatin interactions |
ENSG00000248542 | chromatin interactions |
ENSG00000176788 | chromatin interactions |
ENSG00000250782 | chromatin interactions |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs13158336 | chr5:17599577-17599578 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
2 | rs554351010 | chr5:17599581-17599582 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
3 | rs11368964 | chr5:17599589-17599590 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
4 | rs371243031 | chr5:17599597-17599598 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
5 | rs574501693 | chr5:17599616-17599617 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
6 | rs533970708 | chr5:17599624-17599625 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
7 | rs77660923 | chr5:17599640-17599641 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
8 | rs554052794 | chr5:17599643-17599644 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
9 | rs577123411 | chr5:17599684-17599685 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
10 | rs367875383 | chr5:17599701-17599702 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
11 | rs370965770 | chr5:17599702-17599703 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
12 | rs556445615 | chr5:17599704-17599705 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
13 | rs72170986 | chr5:17599706-17599707 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
14 | rs142610689 | chr5:17599711-17599712 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
15 | rs576325553 | chr5:17599712-17599713 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
16 | rs35243369 | chr5:17599720-17599721 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
17 | rs142590225 | chr5:17599725-17599726 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
18 | rs61625793 | chr5:17599728-17599729 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
19 | rs114526637 | chr5:17599729-17599730 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
20 | rs4573030 | chr5:17599739-17599740 | Inactive region | TF binding region | 2 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
21 | rs191685511 | chr5:17599760-17599761 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
22 | rs541136539 | chr5:17599761-17599762 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
23 | rs116021147 | chr5:17599762-17599763 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
24 | rs533369402 | chr5:17599765-17599766 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
25 | rs568786766 | chr5:17599767-17599768 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
26 | rs146817008 | chr5:17599768-17599769 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
27 | rs368945087 | chr5:17599771-17599772 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
28 | rs565271913 | chr5:17599773-17599774 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
29 | rs569959647 | chr5:17599774-17599775 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
30 | rs138873184 | chr5:17599780-17599781 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
31 | rs568056656 | chr5:17599782-17599783 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
32 | rs113413189 | chr5:17600746-17600747 | Inactive region | TF binding region | 3 gene(s) | Overlapped CNVs | n/a |
33 | rs377369637 | chr5:17600750-17600751 | Inactive region | TF binding region | 3 gene(s) | Overlapped CNVs | n/a |
34 | rs542289480 | chr5:17600755-17600756 | Inactive region | TF binding region | 3 gene(s) | Overlapped CNVs | n/a |
35 | rs151325710 | chr5:17601240-17601241 | Inactive region | TF binding region | 3 gene(s) | Overlapped CNVs | n/a |
36 | rs564890118 | chr5:17601258-17601259 | Inactive region | TF binding region | 3 gene(s) | Overlapped CNVs | n/a |
37 | rs575399917 | chr5:17601270-17601271 | Inactive region | TF binding region | 3 gene(s) | Overlapped CNVs | n/a |
38 | rs544151170 | chr5:17601302-17601303 | Inactive region | TF binding region | 3 gene(s) | Overlapped CNVs | n/a |
39 | rs116197116 | chr5:17601346-17601347 | Inactive region | TF binding region | 3 gene(s) | Overlapped CNVs | n/a |
40 | rs140572896 | chr5:17601363-17601364 | Inactive region | TF binding region | 3 gene(s) | Overlapped CNVs | n/a |
41 | rs187781054 | chr5:17601364-17601365 | Inactive region | TF binding region | 3 gene(s) | Overlapped CNVs | n/a |
42 | rs560557172 | chr5:17601371-17601372 | Inactive region | TF binding region | 3 gene(s) | Overlapped CNVs | n/a |
43 | rs150445340 | chr5:17601372-17601373 | Inactive region | TF binding region | 3 gene(s) | Overlapped CNVs | n/a |
44 | rs532607640 | chr5:17601395-17601396 | Inactive region | TF binding region | 3 gene(s) | Overlapped CNVs | n/a |
45 | rs552642270 | chr5:17601418-17601419 | Inactive region | TF binding region | 3 gene(s) | Overlapped CNVs | n/a |
46 | rs191485159 | chr5:17601432-17601433 | Inactive region | TF binding region | 3 gene(s) | Overlapped CNVs | n/a |
47 | rs533593404 | chr5:17601460-17601461 | Inactive region | TF binding region | 3 gene(s) | Overlapped CNVs | n/a |
48 | rs548587466 | chr5:17601493-17601494 | Inactive region | TF binding region | 3 gene(s) | Overlapped CNVs | n/a |
49 | rs541086853 | chr5:17604054-17604055 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
50 | rs564062541 | chr5:17604056-17604057 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Lung cancer | 19547694 | CNVD |
Cri-du chat syndrome | 22283845 | CNVD |
Disorders of sex development | 21048976 | CNVD |
Non-small cell lung cancer | 20864512 | CNVD |
Cancer | 21183584 | CNVD |
Cervical squamous cell carcinoma | 21590768 | CNVD |
Honadal dysgenesis | 21048976 | CNVD |
Cancer | 16751803 | CNVD |
Breast cancer | 17133270 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Salivary gland tumor | 18059337 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Kartagener syndrome | 16639409 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Myofibroblastic sarcoma | 19369631 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Medulloblastoma | 16783165 | CNVD |
Thyroid cancer | 19087340 | CNVD |
Liposarcoma | 21253554 | CNVD |
Pancreatic endocrine tumor | 17639061 | CNVD |
Cervical Cancer | 21857958 | CNVD |
Cervical cancer | 21062161 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Oral cancer | 21386901 | CNVD |
Astrocytoma | 17387387 | CNVD |
Breast cancer | 21264507 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Esophageal squamous carcinoma | 18350619 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Malignant mesothelioma | 18160781 | CNVD |
Pleural malignant mesothelioma | 18160781 | CNVD |
Cervical cancer | 18559093 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Acute lymphoblastic leukemia | 17690704 | CNVD |
Gastrointestinal stromal cancer | 16982739 | CNVD |
Phyllodes tumor | 17334353 | CNVD |
Malaria | 21533027 | CNVD |
Renal cell carcinoma | 19461508 | CNVD |
Colorectal cancer | 21645411 | CNVD |
Gastric cancer | 22152101 | CNVD |
Oesophago-gastric ulcer | 22152101 | CNVD |
Ovarian cancer | 21781307 | CNVD |
Breast cancer | 20668451 | CNVD |
Cancer | 20668451 | CNVD |
Lung cancer | 20668451 | CNVD |
Ovarian cancer | 20668451 | CNVD |
Pancreas cancer | 20668451 | CNVD |
Prostate cancer | 20668451 | CNVD |
Cancer | 20164919 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Multiple myeloma | 17550852 | CNVD |
prenatal diagnosis | 22389664 | CNVD |
Bladder cancer | 21909424 | CNVD |
DNA damage stimulus | 22844521 | CNVD |
DNA repair | 22844521 | CNVD |
Breast cancer | 21785460 | CNVD |
Spinal muscular atrophy | 22422766 | CNVD |
Spinal muscular atrophy | 22558076 | CNVD |
Spinal muscular atrophy | 21320981 | CNVD |
Spinal muscular atrophy | 21762474 | CNVD |
Breast cancer | 21858162 | CNVD |
Esophageal adenocarcinoma | 19417022 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Lung cancer | 18438408 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Breast cancer | 16608533 | CNVD |
Anaplastic large cell lymphoma | 18179710 | CNVD |
Autism | 22495311 | CNVD |
Melanoma | 18172304 | CNVD |
Non-syndromic sensorineural hearing loss | 20606397 | CNVD |
Intellectual disability | 22102821 | CNVD |
Ovarian clear cell carcinoma | 19293255 | CNVD |
Williams Syndrome | 20824207 | CNVD |
Breast cancer | 21364760 | CNVD |
Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
Acute lymphoblastic leukemia | 17640729 | CNVD |
Myoepithelioma | 18604193 | CNVD |
Lung cancer | 16740712 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Glioblastoma multiforme | 22286061 | CNVD |
Melanoma | 22183965 | CNVD |
Renal cell carcinoma | 18194544 | CNVD |
Prostate cancer | 21965145 | CNVD |
Ovarian cancer | 20844748 | CNVD |
Myeloproliferative neoplasm | 20015882 | CNVD |
Breast cancer | 17603634 | CNVD |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
Autism | 19287141 | CNVD |
Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr5:17604200-17604600 | Enhancers | Lung | lung |
2 | chr5:17604200-17604600 | Enhancers | Hela-S3 | cervix |
3 | chr5:17607400-17607600 | Enhancers | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
4 | chr5:17616600-17616800 | ZNF genes & repeats | Brain Hippocampus Middle | brain |
5 | chr5:17619200-17620600 | Enhancers | Hela-S3 | cervix |
6 | chr5:17620600-17621000 | Enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |
7 | chr5:17639200-17640000 | Enhancers | Liver | Liver |
8 | chr5:17652200-17652400 | Enhancers | HSMM | muscle |
9 | chr5:17662200-17662800 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
10 | chr5:17662800-17663000 | Enhancers | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
11 | chr5:17662800-17663400 | Enhancers | Fetal Muscle Trunk | muscle |
12 | chr5:17663000-17669200 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
13 | chr5:17664200-17664800 | Enhancers | H9 Cell Line | embryonic stem cell |
14 | chr5:17664200-17665400 | Enhancers | HUES64 Cell Line | embryonic stem cell |
15 | chr5:17664200-17665600 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
16 | chr5:17664200-17665800 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
17 | chr5:17664400-17664800 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
18 | chr5:17664400-17664800 | Enhancers | HUES6 Cell Line | embryonic stem cell |
19 | chr5:17664400-17665000 | Enhancers | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
20 | chr5:17664400-17665000 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
21 | chr5:17664400-17665800 | Enhancers | HUES48 Cell Line | embryonic stem cell |
22 | chr5:17664600-17664800 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
23 | chr5:17664800-17665800 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
24 | chr5:17665600-17668000 | Enhancers | Primary B cells from cord blood | blood |
25 | chr5:17666000-17668000 | Enhancers | Primary B cells from peripheral blood | blood |
26 | chr5:17670400-17670800 | Enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |
27 | chr5:17678800-17680000 | Enhancers | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
28 | chr5:17678800-17680000 | Enhancers | Foreskin Keratinocyte Primary Cells skin02 | Skin |
29 | chr5:17678800-17680800 | Enhancers | HMEC | breast |
30 | chr5:17678800-17681400 | Enhancers | Hela-S3 | cervix |
31 | chr5:17679000-17680600 | Enhancers | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
32 | chr5:17679200-17680800 | Enhancers | A549 | lung |
33 | chr5:17679600-17680000 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
34 | chr5:17679600-17680600 | Enhancers | Foreskin Keratinocyte Primary Cells skin03 | Skin |
35 | chr5:17679800-17680200 | Enhancers | NHEK | skin |