Variant report
Variant | nsv539353 |
---|---|
Chromosome Location | chr8:3318340-3667389 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:989)
- CpG islands (count:427)
- Chromatin interactive region (count:21)
- 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 | ATF1 | chr8:3328036-3328126 | K562 | blood: | n/a | n/a |
2 | BACH1 | chr8:3491473-3491649 | H1-hESC | embryonic stem cell: | n/a | n/a |
3 | BACH1 | chr8:3414459-3414512 | H1-hESC | embryonic stem cell: | n/a | n/a |
4 | BACH1 | chr8:3348537-3348542 | K562 | blood: | n/a | n/a |
5 | BACH1 | chr8:3394062-3394294 | H1-hESC | embryonic stem cell: | n/a | n/a |
6 | BCL3 | chr8:3381143-3381992 | GM12878 | blood: | n/a | n/a |
7 | BCL3 | chr8:3456830-3457201 | GM12878 | blood: | n/a | n/a |
8 | BHLHE40 | chr8:3371087-3371103 | K562 | blood: | n/a | n/a |
9 | BHLHE40 | chr8:3325292-3325400 | K562 | blood: | n/a | n/a |
10 | CEBPB | chr8:3420332-3420336 | A549 | lung: | n/a | n/a |
11 | CEBPB | chr8:3666019-3666256 | A549 | lung: | n/a | chr8:3666141-3666152 |
12 | CEBPB | chr8:3637934-3638040 | K562 | blood: | n/a | chr8:3637963-3637976 |
13 | CEBPB | chr8:3430609-3430796 | HepG2 | liver: | n/a | chr8:3430696-3430709 chr8:3430698-3430707 chr8:3430698-3430707 chr8:3430698-3430707 |
14 | CEBPB | chr8:3365631-3365922 | H1-hESC | embryonic stem cell: | n/a | chr8:3365776-3365787 |
15 | CEBPB | chr8:3425939-3426206 | A549 | lung: | n/a | chr8:3426039-3426050 |
16 | CEBPB | chr8:3581074-3581416 | HepG2 | liver: | n/a | chr8:3581240-3581251 |
17 | CEBPB | chr8:3497489-3497769 | H1-hESC | embryonic stem cell: | n/a | chr8:3497574-3497587 |
18 | CEBPB | chr8:3328462-3328710 | HepG2 | liver: | n/a | chr8:3328577-3328588 |
19 | CEBPB | chr8:3529350-3529596 | K562 | blood: | n/a | chr8:3529494-3529505 |
20 | CEBPB | chr8:3581067-3581340 | H1-hESC | embryonic stem cell: | n/a | chr8:3581240-3581251 |
21 | CEBPB | chr8:3503915-3504324 | H1-hESC | embryonic stem cell: | n/a | chr8:3504063-3504074 chr8:3504063-3504076 |
22 | CEBPB | chr8:3581072-3581427 | K562 | blood: | n/a | chr8:3581240-3581251 |
23 | CEBPB | chr8:3541170-3541453 | HepG2 | liver: | n/a | n/a |
24 | CEBPB | chr8:3430118-3430309 | HepG2 | liver: | n/a | n/a |
25 | CEBPB | chr8:3430078-3430383 | IMR90 | lung: | n/a | n/a |
26 | CEBPB | chr8:3475205-3475329 | HepG2 | liver: | n/a | n/a |
27 | CEBPB | chr8:3326561-3326906 | HepG2 | liver: | n/a | chr8:3326739-3326750 chr8:3326737-3326750 chr8:3326739-3326748 chr8:3326737-3326750 chr8:3326737-3326748 |
28 | CEBPB | chr8:3581062-3581437 | IMR90 | lung: | n/a | chr8:3581240-3581251 |
29 | CEBPB | chr8:3559495-3559575 | K562 | blood: | n/a | chr8:3559532-3559543 |
30 | CEBPB | chr8:3430118-3430337 | A549 | lung: | n/a | n/a |
31 | CEBPB | chr8:3475245-3475445 | H1-hESC | embryonic stem cell: | n/a | n/a |
32 | CEBPB | chr8:3637812-3638123 | IMR90 | lung: | n/a | chr8:3637963-3637976 |
33 | CEBPB | chr8:3425923-3426210 | HepG2 | liver: | n/a | chr8:3426039-3426050 |
34 | CEBPB | chr8:3502455-3502721 | A549 | lung: | n/a | chr8:3502604-3502615 chr8:3502606-3502615 chr8:3502606-3502617 |
35 | CEBPB | chr8:3430569-3430821 | H1-hESC | embryonic stem cell: | n/a | chr8:3430696-3430709 chr8:3430698-3430707 chr8:3430698-3430707 chr8:3430698-3430707 |
36 | CEBPB | chr8:3371778-3371955 | H1-hESC | embryonic stem cell: | n/a | chr8:3371791-3371804 |
37 | CEBPB | chr8:3541159-3541448 | IMR90 | lung: | n/a | n/a |
38 | CEBPB | chr8:3564711-3564741 | HepG2 | liver: | n/a | n/a |
39 | CEBPB | chr8:3558869-3559067 | H1-hESC | embryonic stem cell: | n/a | n/a |
40 | 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 |
41 | CEBPB | chr8:3486970-3487053 | HepG2 | liver: | n/a | chr8:3487017-3487028 chr8:3487015-3487026 |
42 | CEBPB | chr8:3326566-3326915 | IMR90 | lung: | n/a | chr8:3326739-3326750 chr8:3326737-3326750 chr8:3326739-3326748 chr8:3326737-3326750 chr8:3326737-3326748 |
43 | CEBPB | chr8:3458334-3458381 | A549 | lung: | n/a | n/a |
44 | CEBPB | chr8:3529319-3529655 | IMR90 | lung: | n/a | chr8:3529494-3529505 |
45 | CEBPB | chr8:3497558-3497809 | A549 | lung: | n/a | chr8:3497574-3497587 |
46 | CEBPB | chr8:3394202-3394634 | HepG2 | liver: | n/a | chr8:3394490-3394501 chr8:3394491-3394500 |
47 | CEBPB | chr8:3648092-3648164 | HepG2 | liver: | n/a | chr8:3648128-3648141 chr8:3648128-3648139 |
48 | CEBPB | chr8:3518799-3519054 | H1-hESC | embryonic stem cell: | n/a | n/a |
49 | CEBPB | chr8:3665998-3666292 | HepG2 | liver: | n/a | chr8:3666141-3666152 |
50 | CEBPB | chr8:3371790-3371990 | A549 | lung: | n/a | chr8:3371791-3371804 |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr8:3416209-3416259 | HRPEpiC | eye: | n/a |
2 | chr8:3429382-3429432 | GM19239 | blood: | n/a |
3 | chr8:3416209-3416259 | PrEC | prostate: | n/a |
4 | chr8:3429480-3429530 | CMK | blood: | n/a |
5 | chr8:3416209-3416259 | HepG2 | liver: | n/a |
6 | chr8:3416221-3416271 | AG04450 | lung: | fetal |
7 | chr8:3429382-3429432 | BJ | skin: | n/a |
8 | chr8:3429428-3429478 | PANC-1 | pancreas: | n/a |
9 | chr8:3429382-3429432 | SK-N-SH | brain: | n/a |
10 | chr8:3412728-3412778 | H1-hESC | embryonic stem cell: | embryo |
11 | chr8:3416221-3416271 | Jurkat | blood: | n/a |
12 | chr8:3429428-3429478 | K562 | blood: | n/a |
13 | chr8:3412728-3412778 | AoSMC | blood vessel: | n/a |
14 | chr8:3412728-3412778 | SK-N-MC | brain: | n/a |
15 | chr8:3429480-3429530 | Jurkat | blood: | n/a |
16 | chr8:3416080-3416130 | SK-N-SH_RA | brain: | n/a |
17 | chr8:3416209-3416259 | GM12878 | blood: | n/a |
18 | chr8:3416209-3416259 | CMK | blood: | n/a |
19 | chr8:3412728-3412778 | BJ | skin: | n/a |
20 | chr8:3429382-3429432 | HIPEpiC | eye: | n/a |
21 | chr8:3429428-3429478 | HCM | heart: | n/a |
22 | chr8:3416080-3416130 | GM12892 | blood: | n/a |
23 | chr8:3429480-3429530 | GM06990 | blood: | n/a |
24 | chr8:3429428-3429478 | Caco-2 | colon: | n/a |
25 | chr8:3416209-3416259 | GM06990 | blood: | n/a |
26 | chr8:3429428-3429478 | HPAEpiC | pulmonary alveolar: | n/a |
27 | chr8:3416209-3416259 | PFSK-1 | brain: | n/a |
28 | chr8:3429480-3429530 | T-47D | breast: | n/a |
29 | chr8:3412728-3412778 | Jurkat | blood: | n/a |
30 | chr8:3416209-3416259 | HCT-116 | colon: | n/a |
31 | chr8:3429480-3429530 | HUVEC | blood vessel: | n/a |
32 | chr8:3416209-3416259 | HNPCEpiC | eye: | n/a |
33 | chr8:3429480-3429530 | PANC-1 | pancreas: | n/a |
34 | chr8:3412728-3412778 | AG10803 | skin: | n/a |
35 | chr8:3416080-3416130 | HepG2 | liver: | n/a |
36 | chr8:3416221-3416271 | HCM | heart: | n/a |
37 | chr8:3416209-3416259 | SK-N-MC | brain: | n/a |
38 | chr8:3416080-3416130 | ovcar-3 | ovarian: | n/a |
39 | chr8:3429428-3429478 | Hepatocyte | liver: | n/a |
40 | chr8:3416209-3416259 | HRCEpiC | kidney: | n/a |
41 | chr8:3416221-3416271 | ovcar-3 | ovarian: | n/a |
42 | chr8:3429382-3429432 | GM12892 | blood: | n/a |
43 | chr8:3429480-3429530 | IMR90 | lung: | fetal |
44 | chr8:3412728-3412778 | SK-N-SH | brain: | n/a |
45 | chr8:3416221-3416271 | T-47D | breast: | n/a |
46 | chr8:3416209-3416259 | IMR90 | lung: | fetal |
47 | chr8:3429428-3429478 | NH-A | brain: | n/a |
48 | chr8:3429382-3429432 | HRPEpiC | eye: | n/a |
49 | chr8:3416209-3416259 | AoSMC | blood vessel: | n/a |
50 | chr8:3412728-3412778 | AG04450 | lung: | fetal |
(count:21 , 50 per page) page:
1
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr8:3666135..3668628-chr8:3668969..3670957,2 | K562 | blood: | |
2 | chr12:52789382..52790150-chr8:3662781..3663283,3 | MCF-7 | breast: | |
3 | chr8:3585079..3586753-chr8:3589988..3592650,2 | MCF-7 | breast: | |
4 | chr12:52789360..52789970-chr8:3662803..3663781,2 | MCF-7 | breast: | |
5 | chr8:3503109..3505550-chr8:3506422..3509146,2 | K562 | blood: | |
6 | chr8:3609055..3609589-chr8:3648173..3649150,2 | MCF-7 | breast: | |
7 | chr8:3609055..3609589-chr8:3648173..3649150,2 | MCF-7 | breast: | |
8 | chr8:3357251..3359656-chr8:3362174..3364772,2 | K562 | blood: | |
9 | chr6:109235237..109236122-chr8:3511314..3512158,2 | MCF-7 | breast: | |
10 | chr8:3482781..3484971-chr8:3489836..3491508,2 | K562 | blood: | |
11 | chr12:57145579..57146089-chr8:3611408..3611928,2 | Hela-S3 | cervix: | |
12 | chr8:3503109..3505550-chr8:3506422..3509146,2 | K562 | blood: | |
13 | chr20:21106306..21107017-chr8:3519478..3519998,2 | MCF-7 | breast: | |
14 | chr8:3585079..3586753-chr8:3589988..3592650,2 | MCF-7 | breast: | |
15 | chr8:3142043..3142754-chr8:3442196..3443079,3 | K562 | blood: | |
16 | chr12:58159481..58160161-chr8:3442277..3442945,2 | HCT-116 | colon: | |
17 | chr8:3482781..3484971-chr8:3489836..3491508,2 | K562 | blood: | |
18 | chr8:3141218..3141916-chr8:3393869..3394656,2 | MCF-7 | breast: | |
19 | chr8:2675575..2676101-chr8:3394089..3394683,2 | MCF-7 | breast: | |
20 | chr8:3357251..3359656-chr8:3362174..3364772,2 | K562 | blood: | |
21 | chr8:3142221..3142747-chr8:3393835..3394631,2 | MCF-7 | breast: |
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 |
ENSG00000183117 | chromatin interactions |
ENSG00000088970 | chromatin interactions |
ENSG00000025423 | chromatin interactions |
ENSG00000198056 | chromatin interactions |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs369780570 | chr8:3318340-3318341 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs113928009 | chr8:3318346-3318347 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs180980641 | chr8:3318348-3318349 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs375165651 | chr8:3318409-3318410 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs117478722 | chr8:3318424-3318425 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs369026384 | chr8:3318426-3318427 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs150781201 | chr8:3318457-3318458 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs372566729 | chr8:3318473-3318474 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs79466349 | chr8:3318489-3318490 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs75701410 | chr8:3318490-3318491 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs577367306 | chr8:3318499-3318500 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs186435008 | chr8:3318507-3318508 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs556594347 | chr8:3318516-3318517 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs191203926 | chr8:3318541-3318542 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs57059964 | chr8:3318544-3318545 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
16 | rs560946782 | chr8:3318557-3318558 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs186095809 | chr8:3318571-3318572 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs139156799 | chr8:3318577-3318578 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs565046363 | chr8:3318587-3318588 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs532218364 | chr8:3318614-3318615 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs550819866 | chr8:3318628-3318629 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs569081433 | chr8:3318636-3318637 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs530016090 | chr8:3318640-3318641 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs149923746 | chr8:3318650-3318651 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs566851281 | chr8:3318657-3318658 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs1353870 | chr8:3318660-3318661 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
27 | rs58938937 | chr8:3318666-3318667 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
28 | rs552398272 | chr8:3318667-3318668 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs76831451 | chr8:3318684-3318685 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs575084989 | chr8:3318685-3318686 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs538076962 | chr8:3318687-3318688 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs556795073 | chr8:3318690-3318691 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs575242054 | chr8:3318691-3318692 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs146334162 | chr8:3318695-3318696 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs78338070 | chr8:3318698-3318699 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs552857150 | chr8:3318723-3318724 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs572877149 | chr8:3318730-3318731 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs183320322 | chr8:3318739-3318740 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs17066195 | chr8:3318765-3318766 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
40 | rs139580575 | chr8:3318768-3318769 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs544108601 | chr8:3318770-3318771 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs562427406 | chr8:3318815-3318816 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs188110642 | chr8:3318816-3318817 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs79323537 | chr8:3318828-3318829 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs560073008 | chr8:3318830-3318831 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs555718347 | chr8:3318832-3318833 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs552610811 | chr8:3318839-3318840 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs570884571 | chr8:3318844-3318845 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs538415303 | chr8:3318846-3318847 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs545849822 | chr8:3318851-3318852 | Weak transcription | 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 |
Schizophrenia | 19805367 | CNVD |
Colorectal cancer | 16774939 | CNVD |
Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
Colorectal cancer | 21645411 | CNVD |
Colorectal cancer | 22014273 | CNVD |
Lung squamous cell carcinoma | 22363434 | CNVD |
Schizophrenia | 23813976 | CNVD |
Renal cell carcinoma | 21215367 | CNVD |
Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
Chordoma | 21215367 | CNVD |
Cancer | 20164919 | CNVD |
Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
Acute lymphoblastic leukemia | 21339820 | CNVD |
Breast cancer | 22522925 | CNVD |
Osteosarcoma | 21215367 | CNVD |
Non-syndromic sensorineural hearing loss | 17289997 | CNVD |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr8:3295000-3320200 | Weak transcription | Brain Substantia Nigra | brain |
2 | chr8:3307800-3322400 | Weak transcription | Brain Cingulate Gyrus | brain |
3 | chr8:3320200-3321200 | ZNF genes & repeats | Brain Substantia Nigra | brain |
4 | chr8:3320400-3320800 | ZNF genes & repeats | Cortex derived primary cultured neurospheres | brain |
5 | chr8:3320800-3322600 | Weak transcription | Cortex derived primary cultured neurospheres | brain |
6 | chr8:3321000-3321200 | ZNF genes & repeats | Gastric | stomach |
7 | chr8:3321200-3322400 | Weak transcription | Brain Substantia Nigra | brain |
8 | chr8:3321400-3321600 | Enhancers | Fetal Adrenal Gland | Adrenal Gland |
9 | chr8:3322400-3322800 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
10 | chr8:3322400-3323200 | Enhancers | Brain Anterior Caudate | brain |
11 | chr8:3322400-3323400 | Enhancers | Brain Cingulate Gyrus | brain |
12 | chr8:3322400-3323400 | Enhancers | Brain Inferior Temporal Lobe | brain |
13 | chr8:3322400-3323400 | Enhancers | Brain Substantia Nigra | brain |
14 | chr8:3322400-3323600 | Enhancers | Brain Hippocampus Middle | brain |
15 | chr8:3322600-3323000 | Enhancers | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
16 | chr8:3322600-3323200 | Enhancers | Cortex derived primary cultured neurospheres | brain |
17 | chr8:3322600-3323200 | Active TSS | Pancreas | Pancrea |
18 | chr8:3322600-3323400 | Enhancers | Brain Angular Gyrus | brain |
19 | chr8:3322600-3325800 | Weak transcription | Brain Dorsolateral Prefrontal Cortex | brain |
20 | chr8:3323200-3326000 | Weak transcription | Cortex derived primary cultured neurospheres | brain |
21 | chr8:3323200-3326000 | Weak transcription | Brain Anterior Caudate | brain |
22 | chr8:3323400-3324600 | Weak transcription | Brain Angular Gyrus | brain |
23 | chr8:3323400-3325800 | Weak transcription | Brain Substantia Nigra | brain |
24 | chr8:3323400-3326000 | Weak transcription | Brain Cingulate Gyrus | brain |
25 | chr8:3323400-3326000 | Weak transcription | Brain Inferior Temporal Lobe | brain |
26 | chr8:3323600-3324800 | Weak transcription | Brain Hippocampus Middle | brain |
27 | chr8:3324600-3328200 | Enhancers | Brain Angular Gyrus | brain |
28 | chr8:3324800-3325000 | Enhancers | Brain Hippocampus Middle | brain |
29 | chr8:3325000-3325400 | Weak transcription | Brain Hippocampus Middle | brain |
30 | chr8:3325400-3326200 | Enhancers | Brain Hippocampus Middle | brain |
31 | chr8:3325600-3326800 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
32 | chr8:3325800-3326200 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
33 | chr8:3325800-3326200 | Enhancers | Brain Substantia Nigra | brain |
34 | chr8:3325800-3326400 | Enhancers | Brain Dorsolateral Prefrontal Cortex | brain |
35 | chr8:3326000-3326200 | Enhancers | Brain Anterior Caudate | brain |
36 | chr8:3326000-3326200 | Enhancers | Brain Cingulate Gyrus | brain |
37 | chr8:3326000-3326400 | Enhancers | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
38 | chr8:3326000-3328200 | Enhancers | Brain Inferior Temporal Lobe | brain |
39 | chr8:3326000-3328400 | Enhancers | Cortex derived primary cultured neurospheres | brain |
40 | chr8:3326200-3326600 | Flanking Active TSS | Brain Anterior Caudate | brain |
41 | chr8:3326200-3326600 | Flanking Active TSS | Brain Cingulate Gyrus | brain |
42 | chr8:3326200-3326600 | Flanking Active TSS | Brain Hippocampus Middle | brain |
43 | chr8:3326200-3326600 | Flanking Active TSS | Brain Substantia Nigra | brain |
44 | chr8:3326200-3327600 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
45 | chr8:3326200-3328000 | Enhancers | Ganglion Eminence derived primary cultured neurospheres | brain |
46 | chr8:3326600-3327000 | Enhancers | Brain Anterior Caudate | brain |
47 | chr8:3326600-3327200 | Active TSS | Brain Hippocampus Middle | brain |
48 | chr8:3326600-3327600 | Enhancers | Brain Germinal Matrix | brain |
49 | chr8:3326600-3327800 | Enhancers | Brain Cingulate Gyrus | brain |
50 | chr8:3326600-3328200 | Weak transcription | Brain Substantia Nigra | brain |