Variant report
Variant | nsv539356 |
---|---|
Chromosome Location | chr8:3542586-3889592 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:739)
- CpG islands (count:306)
- Chromatin interactive region (count:23)
- 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 | ARID3A | chr8:3857956-3858308 | HepG2 | liver: | n/a | n/a |
2 | ARID3A | chr8:3825004-3825263 | HepG2 | liver: | n/a | n/a |
3 | ARID3A | chr8:3844829-3846287 | HepG2 | liver: | n/a | n/a |
4 | ARID3A | chr8:3834088-3834940 | HepG2 | liver: | n/a | n/a |
5 | ARID3A | chr8:3837286-3837693 | HepG2 | liver: | n/a | n/a |
6 | ATF1 | chr8:3840313-3840440 | K562 | blood: | n/a | n/a |
7 | BCL11A | chr8:3705647-3705889 | H1-hESC | embryonic stem cell: | n/a | n/a |
8 | BHLHE40 | chr8:3834231-3834841 | HepG2 | liver: | n/a | n/a |
9 | BHLHE40 | chr8:3845067-3845952 | HepG2 | liver: | n/a | n/a |
10 | CEBPB | chr8:3739432-3739606 | K562 | blood: | n/a | chr8:3739536-3739547 |
11 | CEBPB | chr8:3669123-3669423 | HepG2 | liver: | n/a | chr8:3669231-3669242 chr8:3669243-3669254 chr8:3669230-3669243 |
12 | CEBPB | chr8:3830844-3831140 | A549 | lung: | n/a | chr8:3830972-3830985 |
13 | CEBPB | chr8:3564711-3564741 | HepG2 | liver: | n/a | n/a |
14 | CEBPB | chr8:3845117-3845593 | HepG2 | liver: | n/a | chr8:3845403-3845416 chr8:3845403-3845414 |
15 | CEBPB | chr8:3844772-3845914 | HepG2 | liver: | n/a | chr8:3845403-3845416 chr8:3845403-3845414 |
16 | CEBPB | chr8:3669137-3669365 | A549 | lung: | n/a | chr8:3669231-3669242 chr8:3669243-3669254 chr8:3669230-3669243 |
17 | CEBPB | chr8:3845135-3845640 | HepG2 | liver: | n/a | chr8:3845403-3845416 chr8:3845403-3845414 |
18 | CEBPB | chr8:3846574-3847085 | HepG2 | liver: | n/a | chr8:3846922-3846935 chr8:3846919-3846936 |
19 | CEBPB | chr8:3729318-3729446 | HepG2 | liver: | n/a | chr8:3729351-3729360 chr8:3729349-3729360 chr8:3729351-3729362 |
20 | CEBPB | chr8:3558869-3559067 | H1-hESC | embryonic stem cell: | n/a | n/a |
21 | CEBPB | chr8:3845172-3845567 | HepG2 | liver: | n/a | chr8:3845403-3845416 chr8:3845403-3845414 |
22 | CEBPB | chr8:3559495-3559575 | K562 | blood: | n/a | chr8:3559532-3559543 |
23 | CEBPB | chr8:3739387-3739624 | HepG2 | liver: | n/a | chr8:3739536-3739547 |
24 | CEBPB | chr8:3803852-3803977 | H1-hESC | embryonic stem cell: | n/a | n/a |
25 | CEBPB | chr8:3637934-3638040 | K562 | blood: | n/a | chr8:3637963-3637976 |
26 | CEBPB | chr8:3637812-3638123 | IMR90 | lung: | n/a | chr8:3637963-3637976 |
27 | CEBPB | chr8:3581067-3581340 | H1-hESC | embryonic stem cell: | n/a | chr8:3581240-3581251 |
28 | CEBPB | chr8:3846700-3846974 | H1-hESC | embryonic stem cell: | n/a | chr8:3846922-3846935 chr8:3846919-3846936 |
29 | CEBPB | chr8:3665998-3666292 | HepG2 | liver: | n/a | chr8:3666141-3666152 |
30 | CEBPB | chr8:3648092-3648164 | HepG2 | liver: | n/a | chr8:3648128-3648141 chr8:3648128-3648139 |
31 | CEBPB | chr8:3846660-3846836 | HepG2 | liver: | n/a | n/a |
32 | CEBPB | chr8:3668177-3668414 | HepG2 | liver: | n/a | chr8:3668291-3668302 |
33 | CEBPB | chr8:3581072-3581412 | A549 | lung: | n/a | chr8:3581240-3581251 |
34 | CEBPB | chr8:3594737-3595003 | HepG2 | liver: | n/a | chr8:3594897-3594906 chr8:3594897-3594906 chr8:3594897-3594906 chr8:3594896-3594907 chr8:3594895-3594908 chr8:3594897-3594906 chr8:3594895-3594906 chr8:3594895-3594908 |
35 | CEBPB | chr8:3666019-3666256 | A549 | lung: | n/a | chr8:3666141-3666152 |
36 | CEBPB | chr8:3581062-3581437 | IMR90 | lung: | n/a | chr8:3581240-3581251 |
37 | CEBPB | chr8:3581074-3581416 | HepG2 | liver: | n/a | chr8:3581240-3581251 |
38 | CEBPB | chr8:3563710-3563937 | HepG2 | liver: | n/a | chr8:3563786-3563797 |
39 | CEBPB | chr8:3788692-3788957 | A549 | lung: | n/a | chr8:3788807-3788820 |
40 | CEBPB | chr8:3804927-3804967 | HepG2 | liver: | n/a | chr8:3804944-3804955 |
41 | CEBPB | chr8:3581072-3581427 | K562 | blood: | n/a | chr8:3581240-3581251 |
42 | CEBPB | chr8:3707382-3707418 | H1-hESC | embryonic stem cell: | n/a | n/a |
43 | CEBPD | chr8:3845143-3845488 | HepG2 | liver: | n/a | n/a |
44 | CEBPD | chr8:3845153-3845497 | HepG2 | liver: | n/a | n/a |
45 | CEBPD | chr8:3846572-3846927 | HepG2 | liver: | n/a | n/a |
46 | CHD2 | chr8:3834027-3834529 | HepG2 | liver: | n/a | n/a |
47 | CHD2 | chr8:3546808-3546813 | Hela-S3 | cervix: | n/a | n/a |
48 | CHD2 | chr8:3857098-3857109 | HepG2 | liver: | n/a | n/a |
49 | CHD2 | chr8:3841766-3841802 | HepG2 | liver: | n/a | n/a |
50 | CHD2 | chr8:3845118-3845537 | HepG2 | liver: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr8:3830691-3830741 | NB4 | blood: | n/a |
2 | chr8:3830691-3830741 | NB4 | blood: | n/a |
3 | chr8:3855577-3855627 | SK-N-MC | brain: | n/a |
4 | chr8:3706763-3706813 | IMR90 | lung: | fetal |
5 | chr8:3855577-3855627 | GM12892 | blood: | n/a |
6 | chr8:3855577-3855627 | NB4 | blood: | n/a |
7 | chr8:3855502-3855552 | MCF10A-Er-Src | breast: | n/a |
8 | chr8:3830691-3830741 | HMEC | breast: | n/a |
9 | chr8:3855577-3855627 | GM19239 | blood: | n/a |
10 | chr8:3855502-3855552 | NHBE | bronchial: | n/a |
11 | chr8:3706763-3706813 | K562 | blood: | n/a |
12 | chr8:3706763-3706813 | GM12892 | blood: | n/a |
13 | chr8:3855502-3855552 | H1-hESC | embryonic stem cell: | embryo |
14 | chr8:3830691-3830741 | AG09319 | gingival: | n/a |
15 | chr8:3855415-3855465 | T-47D | breast: | n/a |
16 | chr8:3855577-3855627 | NHDF-neo | bronchial: | n/a |
17 | chr8:3855415-3855465 | Jurkat | blood: | n/a |
18 | chr8:3855415-3855465 | MCF10A-Er-Src | breast: | n/a |
19 | chr8:3855502-3855552 | NB4 | blood: | n/a |
20 | chr8:3830691-3830741 | AG10803 | skin: | n/a |
21 | chr8:3855577-3855627 | T-47D | breast: | n/a |
22 | chr8:3855415-3855465 | BE2_C | brain: | n/a |
23 | chr8:3855577-3855627 | SAEC | small airway: | n/a |
24 | chr8:3706763-3706813 | GM12878 | blood: | n/a |
25 | chr8:3706763-3706813 | NB4 | blood: | n/a |
26 | chr8:3830691-3830741 | HCT-116 | colon: | n/a |
27 | chr8:3855577-3855627 | ProgFib | skin: | n/a |
28 | chr8:3855502-3855552 | SK-N-SH_RA | brain: | n/a |
29 | chr8:3855577-3855627 | HPAEpiC | pulmonary alveolar: | n/a |
30 | chr8:3855415-3855465 | AG09319 | gingival: | n/a |
31 | chr8:3855415-3855465 | IMR90 | lung: | fetal |
32 | chr8:3855577-3855627 | Hela-S3 | cervix: | n/a |
33 | chr8:3855502-3855552 | GM12892 | blood: | n/a |
34 | chr8:3830691-3830741 | Jurkat | blood: | n/a |
35 | chr8:3706763-3706813 | AG04449 | skin: | fetal |
36 | chr8:3855502-3855552 | HIPEpiC | eye: | n/a |
37 | chr8:3855502-3855552 | HepG2 | liver: | n/a |
38 | chr8:3855502-3855552 | SK-N-SH | brain: | n/a |
39 | chr8:3855502-3855552 | AoSMC | blood vessel: | n/a |
40 | chr8:3855502-3855552 | HCF | heart: | n/a |
41 | chr8:3830691-3830741 | HIPEpiC | eye: | n/a |
42 | chr8:3855415-3855465 | GM19239 | blood: | n/a |
43 | chr8:3830691-3830741 | NT2-D1 | testis: | n/a |
44 | chr8:3706763-3706813 | HMEC | breast: | n/a |
45 | chr8:3855502-3855552 | HAEpiC | amniotic membrane: | n/a |
46 | chr8:3706763-3706813 | NHBE | bronchial: | n/a |
47 | chr8:3706763-3706813 | MCF-7 | breast: | n/a |
48 | chr8:3830691-3830741 | ovcar-3 | ovarian: | n/a |
49 | chr8:3855502-3855552 | SKMC | muscle: | n/a |
50 | chr8:3855415-3855465 | PFSK-1 | brain: | n/a |
(count:23 , 50 per page) page:
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr8:3667541..3670301-chr8:3671592..3673613,2 | K562 | blood: | |
2 | chr12:52789382..52790150-chr8:3662781..3663283,3 | MCF-7 | breast: | |
3 | chr8:3675597..3677848-chr8:3833927..3836270,2 | K562 | blood: | |
4 | chr8:3804589..3807144-chr8:3807916..3809896,2 | K562 | blood: | |
5 | chr12:57145579..57146089-chr8:3611408..3611928,2 | Hela-S3 | cervix: | |
6 | chr8:3823058..3824890-chr8:3826094..3828395,2 | K562 | blood: | |
7 | chr8:3804589..3807144-chr8:3807916..3809896,2 | K562 | blood: | |
8 | chr8:3585079..3586753-chr8:3589988..3592650,2 | MCF-7 | breast: | |
9 | chr8:3690563..3692155-chr8:3696765..3699016,2 | K562 | blood: | |
10 | chr8:3675597..3677848-chr8:3833927..3836270,2 | K562 | blood: | |
11 | chr8:3609055..3609589-chr8:3648173..3649150,2 | MCF-7 | breast: | |
12 | chr8:3690563..3692155-chr8:3696765..3699016,2 | K562 | blood: | |
13 | chr8:3862970..3864915-chr8:3867415..3869991,2 | K562 | blood: | |
14 | chr8:3585079..3586753-chr8:3589988..3592650,2 | MCF-7 | breast: | |
15 | chr8:3809576..3811430-chr8:3818354..3821115,2 | K562 | blood: | |
16 | chr8:3862970..3864915-chr8:3867415..3869991,2 | K562 | blood: | |
17 | chr8:3809576..3811430-chr8:3818354..3821115,2 | K562 | blood: | |
18 | chr8:3823058..3824890-chr8:3826094..3828395,2 | K562 | blood: | |
19 | chr8:3666135..3668628-chr8:3668969..3670957,2 | K562 | blood: | |
20 | chr12:52789360..52789970-chr8:3662803..3663781,2 | MCF-7 | breast: | |
21 | chr8:3666135..3668628-chr8:3668969..3670957,2 | K562 | blood: | |
22 | chr8:3609055..3609589-chr8:3648173..3649150,2 | MCF-7 | breast: | |
23 | chr8:3667541..3670301-chr8:3671592..3673613,2 | K562 | blood: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
CSMD1 | TF binding region |
RNA5SP251 | TF binding region |
CSMD1 | CpG island |
RNA5SP251 | CpG island |
ENSG00000198056 | chromatin interactions |
ENSG00000025423 | chromatin interactions |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs77522677 | chr8:3542601-3542602 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs181604348 | chr8:3542607-3542608 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs573905030 | chr8:3542609-3542610 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs118066150 | chr8:3542637-3542638 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs559579745 | chr8:3542643-3542644 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs534323881 | chr8:3542691-3542692 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs185344636 | chr8:3542695-3542696 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs151299199 | chr8:3542710-3542711 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs140525373 | chr8:3542711-3542712 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs12545632 | chr8:3542714-3542715 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs542934088 | chr8:3542731-3542732 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs188494432 | chr8:3542746-3542747 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs144928370 | chr8:3542747-3542748 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs547199298 | chr8:3542779-3542780 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs76886942 | chr8:3542788-3542789 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs551047160 | chr8:3542796-3542797 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs117820382 | chr8:3542797-3542798 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs145755034 | chr8:3542816-3542817 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs115718930 | chr8:3542818-3542819 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs567603846 | chr8:3542839-3542840 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs181298694 | chr8:3542844-3542845 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs553179993 | chr8:3542849-3542850 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs185567548 | chr8:3542852-3542853 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs373680151 | chr8:3542866-3542867 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs138974411 | chr8:3542870-3542871 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs111501253 | chr8:3542877-3542878 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs142892996 | chr8:3542881-3542882 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs368940621 | chr8:3542886-3542887 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs561223629 | chr8:3542898-3542899 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs528828037 | chr8:3542921-3542922 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs143579593 | chr8:3542946-3542947 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs565482341 | chr8:3542951-3542952 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs6988965 | chr8:3542961-3542962 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
34 | rs528331329 | chr8:3542988-3542989 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs575450177 | chr8:3542994-3542995 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs113482343 | chr8:3542995-3542996 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs180898609 | chr8:3542998-3542999 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
38 | rs187202237 | chr8:3543002-3543003 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
39 | rs542309606 | chr8:3543012-3543013 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
40 | rs76276716 | chr8:3543024-3543025 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
41 | rs376014789 | chr8:3543031-3543032 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
42 | rs73497620 | chr8:3543062-3543063 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
43 | rs534958402 | chr8:3543079-3543080 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
44 | rs552852118 | chr8:3543082-3543083 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
45 | rs73183365 | chr8:3543096-3543097 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
46 | rs571424976 | chr8:3543098-3543099 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
47 | rs562166716 | chr8:3543119-3543120 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
48 | rs75002886 | chr8:3543134-3543135 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
49 | rs557019407 | chr8:3543154-3543155 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
50 | rs75594152 | chr8:3543156-3543157 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Prostate cancer | 16573809 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Ovarian clear cell carcinoma | 21343371 | CNVD |
abnormal development | 18461090 | CNVD |
Crohn''s disease | 19220326 | CNVD |
Psoriasis | 19220326 | CNVD |
Prostate cancer | 21965145 | CNVD |
Prostate cancer | 18515986 | CNVD |
Chronic obstructive pulmonary disease | 20378733 | CNVD |
Autism | 18414403 | CNVD |
Cancer | 21183584 | CNVD |
Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
Breast cancer | 17603634 | CNVD |
Myeloproliferative neoplasm | 20015882 | CNVD |
Ovarian cancer | 20844748 | CNVD |
Cervical cancer | 17311676 | CNVD |
High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
Non-syndromic sensorineural hearing loss | 20606397 | CNVD |
Schizophrenia | 20877625 | CNVD |
Disorders of sex development | 21048976 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Basal cell lymphoma | 17170743 | CNVD |
Follicular lymphoma | 17170743 | CNVD |
Breast cancer | 17001317 | CNVD |
Thyroid cancer | 19087340 | CNVD |
Multiple myeloma | 16616336 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Heart disease | 21282601 | CNVD |
T-cell lymphomas | 19863542 | CNVD |
Ovarian cancer | 22174824 | CNVD |
Colorectal cancer | 21297112 | CNVD |
Hodgkin''s lymphoma | 18641027 | CNVD |
Salivary gland tumor | 18059337 | CNVD |
Breast cancer | 17133270 | CNVD |
Melanoma | 18172304 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Chronic lymphocytic leukemia | 18922857 | CNVD |
Breast cancer | 17393978 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Cancer | 21637783 | CNVD |
Breast cancer | 20837533 | CNVD |
Squamous cell cancer | 21044232 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Cancer | 22429812 | CNVD |
Non-small cell lung cancer | 21044232 | CNVD |
Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Colorectal cancer | 20709793 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Basal cell lymphoma | 21115979 | CNVD |
Breast cancer | 21264507 | CNVD |
Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Oral cancer | 21386901 | CNVD |
Prostate cancer | 21088497 | CNVD |
Breast cancer | 20940404 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Embryonal rhabdomyosarcoma | 16790082 | CNVD |
Gastric cancer | 17167181 | CNVD |
Prostate cancer | 16705090 | CNVD |
8p-syndrome | 17576883 | CNVD |
Human rectal carcinomas | 16397240 | CNVD |
Medulloblastoma | 16968546 | CNVD |
Lung adenocarcinoma | 19525976 | CNVD |
Lung cancer | 19525976 | CNVD |
Prostate cancer | 17245344 | CNVD |
Gastrointestinal stromal cancer | 16982739 | CNVD |
Cancer | 16751803 | CNVD |
Wilms tumour | 21544195 | CNVD |
Gastric cancer | 17908304 | CNVD |
Autism | 19415332 | CNVD |
Malaria | 21533027 | CNVD |
Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
Esophageal cancer | 21851588 | CNVD |
Acute promyelocytic leukemia | 19109227 | CNVD |
Breast cancer | 21245420 | CNVD |
Acute lymphoblastic leukemia | 21248843 | CNVD |
Breast cancer | 21785460 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Ductal carcinoma | 22052326 | CNVD |
Breast cancer | 21509527 | CNVD |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Epilepsy | 22083797 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
low-grade B-cell lymphoma tumor | 18367492 | CNVD |
Prostate cancer | 18632612 | CNVD |
Breast cancer | 21858162 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Liver carcinoma | 19366792 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Autism | 22495311 | CNVD |
Congenital diaphragmatic hernia | 21064195 | CNVD |
Ovarian cancer | 22355333 | CNVD |
Breast cancer | 21364760 | CNVD |
Cancer | 20164920 | CNVD |
Oral squamous cell carcinoma | 17134496 | CNVD |
Non-small cell lung cancer | 21829676 | CNVD |
Esophageal squamous carcinoma | 18405350 | CNVD |
Prostate cancer | 17217626 | CNVD |
Developmental delay | 19128483 | CNVD |
Neuroticism | 17667963 | CNVD |
Leukoplakia | 24403051 | CNVD |
Intellectual disability | 22045946 | CNVD |
Malignant fibrous histiocytomas | 21085701 | CNVD |
Breast cancer | 16608533 | CNVD |
Seminomas | 18059402 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Lung cancer | 18438408 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Colorectal cancer | 16774939 | CNVD |
Colorectal cancer | 21645411 | CNVD |
Colorectal cancer | 22014273 | CNVD |
Lung squamous cell carcinoma | 22363434 | CNVD |
Acute lymphoblastic leukemia | 21339820 | CNVD |
Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
Cancer | 20164919 | CNVD |
Breast cancer | 22522925 | CNVD |
Osteosarcoma | 21215367 | CNVD |
Non-syndromic sensorineural hearing loss | 17289997 | CNVD |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
Chordoma | 21215367 | CNVD |
Chronic myeloid leukemia | 21384125 | CNVD |
Glioma | 20126413 | CNVD |
Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
Autism | 20531469 | CNVD |
Tetralogy of Fallot | 22912587 | CNVD |
Schizophrenia | 23813976 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr8:3542000-3545200 | Enhancers | Fetal Heart | heart |
2 | chr8:3545000-3546200 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
3 | chr8:3545200-3545400 | Enhancers | Pancreas | Pancrea |
4 | chr8:3545200-3545600 | Flanking Active TSS | Fetal Heart | heart |
5 | chr8:3545200-3545600 | Enhancers | Rectal Mucosa Donor 31 | rectum |
6 | chr8:3545600-3546000 | Enhancers | Fetal Heart | heart |
7 | chr8:3546000-3547000 | Weak transcription | Rectal Mucosa Donor 31 | rectum |
8 | chr8:3546200-3549200 | Weak transcription | Foreskin Melanocyte Primary Cells skin03 | Skin |
9 | chr8:3549200-3549800 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
10 | chr8:3549200-3549800 | Enhancers | Rectal Mucosa Donor 31 | rectum |
11 | chr8:3550000-3550200 | Active TSS | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
12 | chr8:3550200-3551800 | Weak transcription | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
13 | chr8:3551400-3552400 | Enhancers | Fetal Muscle Leg | muscle |
14 | chr8:3551600-3552400 | Enhancers | Fetal Muscle Trunk | muscle |
15 | chr8:3551800-3552400 | Enhancers | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
16 | chr8:3563200-3569400 | Weak transcription | Cortex derived primary cultured neurospheres | brain |
17 | chr8:3564400-3565800 | Enhancers | Fetal Muscle Leg | muscle |
18 | chr8:3565800-3566200 | Weak transcription | Fetal Muscle Leg | muscle |
19 | chr8:3566200-3567000 | Enhancers | Fetal Muscle Leg | muscle |
20 | chr8:3569800-3570000 | Bivalent/Poised TSS | Breast Myoepithelial Primary Cells | Breast |
21 | chr8:3575800-3576800 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
22 | chr8:3576000-3576600 | Enhancers | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
23 | chr8:3576000-3576600 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
24 | chr8:3576000-3577400 | Enhancers | HUES48 Cell Line | embryonic stem cell |
25 | chr8:3576200-3576600 | Enhancers | H1 Cell Line | embryonic stem cell |
26 | chr8:3576200-3576600 | Enhancers | HUES6 Cell Line | embryonic stem cell |
27 | chr8:3576200-3576600 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
28 | chr8:3576200-3577000 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
29 | chr8:3576400-3578400 | Enhancers | Cortex derived primary cultured neurospheres | brain |
30 | chr8:3577400-3577800 | Enhancers | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
31 | chr8:3577400-3578200 | Enhancers | Ganglion Eminence derived primary cultured neurospheres | brain |
32 | chr8:3578400-3585600 | Weak transcription | Cortex derived primary cultured neurospheres | brain |
33 | chr8:3583400-3584000 | Enhancers | Foreskin Keratinocyte Primary Cells skin02 | Skin |
34 | chr8:3583400-3585200 | Enhancers | Foreskin Keratinocyte Primary Cells skin03 | Skin |
35 | chr8:3583600-3584800 | Enhancers | HMEC | breast |
36 | chr8:3584800-3587400 | Weak transcription | HMEC | breast |
37 | chr8:3587600-3587800 | Enhancers | HMEC | breast |
38 | chr8:3590000-3590200 | Enhancers | Liver | Liver |
39 | chr8:3592400-3593200 | Enhancers | Liver | Liver |
40 | chr8:3592600-3592800 | Enhancers | Pancreas | Pancrea |
41 | chr8:3592600-3593200 | Enhancers | Foreskin Keratinocyte Primary Cells skin03 | Skin |
42 | chr8:3592800-3600400 | Weak transcription | Pancreas | Pancrea |
43 | chr8:3593000-3593400 | Enhancers | Foreskin Keratinocyte Primary Cells skin02 | Skin |
44 | chr8:3593200-3596600 | Weak transcription | Liver | Liver |
45 | chr8:3594200-3594400 | Enhancers | Fetal Intestine Large | intestine |
46 | chr8:3594200-3595200 | Enhancers | Fetal Intestine Small | intestine |
47 | chr8:3594600-3595800 | Weak transcription | Fetal Intestine Large | intestine |
48 | chr8:3595200-3596000 | Weak transcription | Fetal Intestine Small | intestine |
49 | chr8:3595800-3597400 | Enhancers | Fetal Intestine Large | intestine |
50 | chr8:3596000-3597400 | Enhancers | Fetal Intestine Small | intestine |