Variant report
Variant | nsv539420 |
---|---|
Chromosome Location | chr8:5697207-6210541 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:2098)
- CpG islands (count:796)
- Chromatin interactive region (count:44)
- LncRNA region (count:22)
- 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 | chr8:6201384-6201656 | HepG2 | liver: | n/a | n/a |
2 | ATF1 | chr8:6061487-6061529 | K562 | blood: | n/a | n/a |
3 | BACH1 | chr8:5997567-5997673 | K562 | blood: | n/a | n/a |
4 | BACH1 | chr8:5765727-5765858 | H1-hESC | embryonic stem cell: | n/a | n/a |
5 | BACH1 | chr8:5850953-5851324 | K562 | blood: | n/a | n/a |
6 | BATF | chr8:6125905-6126127 | GM12878 | blood: | n/a | n/a |
7 | BHLHE40 | chr8:6188926-6189013 | K562 | blood: | n/a | n/a |
8 | BHLHE40 | chr8:5997564-5997834 | K562 | blood: | n/a | n/a |
9 | BHLHE40 | chr8:6149426-6149734 | GM12878 | blood: | n/a | n/a |
10 | BHLHE40 | chr8:5833612-5833750 | GM12878 | blood: | n/a | n/a |
11 | BHLHE40 | chr8:5851125-5851150 | GM12878 | blood: | n/a | n/a |
12 | BHLHE40 | chr8:5851096-5851152 | K562 | blood: | n/a | n/a |
13 | BRCA1 | chr8:5934404-5934557 | HepG2 | liver: | n/a | n/a |
14 | BRCA1 | chr8:5875790-5876111 | Hela-S3 | cervix: | n/a | n/a |
15 | BRCA1 | chr8:5850952-5851325 | Hela-S3 | cervix: | n/a | n/a |
16 | BRCA1 | chr8:5754693-5754799 | Hela-S3 | cervix: | n/a | n/a |
17 | BRCA1 | chr8:5934620-5934703 | GM12878 | blood: | n/a | n/a |
18 | BRCA1 | chr8:5848023-5848042 | H1-hESC | embryonic stem cell: | n/a | n/a |
19 | CEBPB | chr8:6106894-6107185 | IMR90 | lung: | n/a | chr8:6107026-6107037 chr8:6107026-6107039 chr8:6107028-6107039 chr8:6107028-6107037 |
20 | CEBPB | chr8:5871244-5871593 | HepG2 | liver: | n/a | chr8:5871421-5871434 |
21 | CEBPB | chr8:6106882-6107194 | H1-hESC | embryonic stem cell: | n/a | chr8:6107026-6107037 chr8:6107026-6107039 chr8:6107028-6107039 chr8:6107028-6107037 |
22 | CEBPB | chr8:6165750-6165958 | HepG2 | liver: | n/a | chr8:6165822-6165835 chr8:6165824-6165833 chr8:6165822-6165833 |
23 | CEBPB | chr8:5923536-5923736 | K562 | blood: | n/a | chr8:5923710-5923721 chr8:5923708-5923719 |
24 | CEBPB | chr8:5731891-5732130 | IMR90 | lung: | n/a | chr8:5731971-5731982 |
25 | CEBPB | chr8:5923529-5923871 | H1-hESC | embryonic stem cell: | n/a | chr8:5923710-5923721 chr8:5923708-5923719 |
26 | CEBPB | chr8:6038065-6038396 | K562 | blood: | n/a | chr8:6038076-6038087 chr8:6038225-6038236 chr8:6038076-6038089 chr8:6038076-6038089 chr8:6038076-6038087 |
27 | CEBPB | chr8:5992348-5992622 | Hela-S3 | cervix: | n/a | chr8:5992465-5992478 chr8:5992465-5992476 |
28 | CEBPB | chr8:5871276-5871564 | H1-hESC | embryonic stem cell: | n/a | chr8:5871421-5871434 |
29 | CEBPB | chr8:6037933-6038425 | Hela-S3 | cervix: | n/a | chr8:6038076-6038087 chr8:6038225-6038236 chr8:6038076-6038089 chr8:6038076-6038089 chr8:6038076-6038087 |
30 | CEBPB | chr8:6038040-6038412 | A549 | lung: | n/a | chr8:6038076-6038087 chr8:6038225-6038236 chr8:6038076-6038089 chr8:6038076-6038089 chr8:6038076-6038087 |
31 | CEBPB | chr8:6165763-6166327 | K562 | blood: | n/a | chr8:6165822-6165835 chr8:6165824-6165833 chr8:6165822-6165833 |
32 | CEBPB | chr8:5923557-5923830 | HepG2 | liver: | n/a | chr8:5923710-5923721 chr8:5923708-5923719 |
33 | CEBPB | chr8:6066362-6066643 | HepG2 | liver: | n/a | chr8:6066452-6066463 chr8:6066451-6066464 chr8:6066451-6066464 chr8:6066451-6066462 |
34 | CEBPB | chr8:6100276-6100536 | HepG2 | liver: | n/a | n/a |
35 | CEBPB | chr8:6132470-6132485 | HepG2 | liver: | n/a | n/a |
36 | CEBPB | chr8:6038148-6038455 | A549 | lung: | n/a | chr8:6038225-6038236 |
37 | CEBPB | chr8:6128333-6128520 | H1-hESC | embryonic stem cell: | n/a | n/a |
38 | CEBPB | chr8:5743074-5743414 | IMR90 | lung: | n/a | chr8:5743238-5743249 chr8:5743236-5743247 chr8:5743238-5743247 chr8:5743236-5743249 |
39 | CEBPB | chr8:5850585-5850618 | HepG2 | liver: | n/a | chr8:5850591-5850602 |
40 | CEBPB | chr8:5743087-5743365 | A549 | lung: | n/a | chr8:5743238-5743249 chr8:5743236-5743247 chr8:5743238-5743247 chr8:5743236-5743249 |
41 | CEBPB | chr8:5978204-5978460 | HepG2 | liver: | n/a | chr8:5978303-5978315 chr8:5978298-5978309 |
42 | CEBPB | chr8:5883252-5883353 | A549 | lung: | n/a | n/a |
43 | CEBPB | chr8:5850953-5851324 | K562 | blood: | n/a | n/a |
44 | CEBPB | chr8:6148528-6148743 | HepG2 | liver: | n/a | chr8:6148625-6148638 chr8:6148625-6148638 chr8:6148626-6148637 chr8:6148625-6148636 |
45 | CEBPB | chr8:5743077-5743413 | HepG2 | liver: | n/a | chr8:5743238-5743249 chr8:5743236-5743247 chr8:5743238-5743247 chr8:5743236-5743249 |
46 | CEBPB | chr8:5766581-5766595 | A549 | lung: | n/a | n/a |
47 | CEBPB | chr8:6165750-6165950 | IMR90 | lung: | n/a | chr8:6165822-6165835 chr8:6165824-6165833 chr8:6165822-6165833 |
48 | CEBPB | chr8:6106985-6107104 | K562 | blood: | n/a | chr8:6107026-6107037 chr8:6107026-6107039 chr8:6107028-6107039 chr8:6107028-6107037 |
49 | CEBPB | chr8:6038057-6038393 | IMR90 | lung: | n/a | chr8:6038076-6038087 chr8:6038225-6038236 chr8:6038076-6038089 chr8:6038076-6038089 chr8:6038076-6038087 |
50 | CEBPB | chr8:5923564-5923858 | IMR90 | lung: | n/a | chr8:5923710-5923721 chr8:5923708-5923719 |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr8:5909945-5909995 | NHBE | bronchial: | n/a |
2 | chr8:6010288-6010338 | HAEpiC | amniotic membrane: | n/a |
3 | chr8:5909945-5909995 | HPAEpiC | pulmonary alveolar: | n/a |
4 | chr8:5909945-5909995 | NHBE | bronchial: | n/a |
5 | chr8:6010288-6010338 | HAEpiC | amniotic membrane: | n/a |
6 | chr8:5909945-5909995 | HPAEpiC | pulmonary alveolar: | n/a |
7 | chr8:6118526-6118576 | SAEC | small airway: | n/a |
8 | chr8:6118575-6118625 | Caco-2 | colon: | n/a |
9 | chr8:5909945-5909995 | SAEC | small airway: | n/a |
10 | chr8:5909880-5909930 | GM19239 | blood: | n/a |
11 | chr8:5910061-5910111 | ProgFib | skin: | n/a |
12 | chr8:6118526-6118576 | HMEC | breast: | n/a |
13 | chr8:6010288-6010338 | HIPEpiC | eye: | n/a |
14 | chr8:6118526-6118576 | NHBE | bronchial: | n/a |
15 | chr8:5910061-5910111 | HCF | heart: | n/a |
16 | chr8:5949290-5949340 | H1-hESC | embryonic stem cell: | embryo |
17 | chr8:5902873-5902923 | A549 | lung: | n/a |
18 | chr8:5992822-5992872 | Jurkat | blood: | n/a |
19 | chr8:6118526-6118576 | PrEC | prostate: | n/a |
20 | chr8:5910061-5910111 | ovcar-3 | ovarian: | n/a |
21 | chr8:5902873-5902923 | GM12892 | blood: | n/a |
22 | chr8:6010199-6010249 | NT2-D1 | testis: | n/a |
23 | chr8:6010199-6010249 | HEEpiC | esophagus: | n/a |
24 | chr8:5949290-5949340 | HNPCEpiC | eye: | n/a |
25 | chr8:5909880-5909930 | Caco-2 | colon: | n/a |
26 | chr8:6118526-6118576 | HUVEC | blood vessel: | n/a |
27 | chr8:5762990-5763040 | AG04449 | skin: | fetal |
28 | chr8:5909880-5909930 | AG04449 | skin: | fetal |
29 | chr8:5909945-5909995 | A549 | lung: | n/a |
30 | chr8:6189008-6189058 | NH-A | brain: | n/a |
31 | chr8:5910061-5910111 | Jurkat | blood: | n/a |
32 | chr8:5909945-5909995 | AG09319 | gingival: | n/a |
33 | chr8:6189008-6189058 | SAEC | small airway: | n/a |
34 | chr8:5949290-5949340 | HEEpiC | esophagus: | n/a |
35 | chr8:5902873-5902923 | SKMC | muscle: | n/a |
36 | chr8:6010288-6010338 | PrEC | prostate: | n/a |
37 | chr8:5910061-5910111 | SK-N-SH | brain: | n/a |
38 | chr8:5762990-5763040 | HEEpiC | esophagus: | n/a |
39 | chr8:5909880-5909930 | HRE | kidney: | n/a |
40 | chr8:5910061-5910111 | HPAEpiC | pulmonary alveolar: | n/a |
41 | chr8:5762990-5763040 | HCF | heart: | n/a |
42 | chr8:6118526-6118576 | AG04450 | lung: | fetal |
43 | chr8:6010199-6010249 | AG04450 | lung: | fetal |
44 | chr8:5902873-5902923 | CMK | blood: | n/a |
45 | chr8:5949290-5949340 | SK-N-SH | brain: | n/a |
46 | chr8:6189008-6189058 | HCM | heart: | n/a |
47 | chr8:5992822-5992872 | Hepatocyte | liver: | n/a |
48 | chr8:5902873-5902923 | AG09319 | gingival: | n/a |
49 | chr8:6010288-6010338 | AoSMC | blood vessel: | n/a |
50 | chr8:5902873-5902923 | Caco-2 | colon: | n/a |
(count:44 , 50 per page) page:
1
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr8:5797855..5798416-chr8:5934095..5934883,2 | MCF-7 | breast: | |
2 | chr8:6139049..6141857-chr8:6147372..6149538,2 | K562 | blood: | |
3 | chr8:6040393..6043249-chr8:6044843..6046899,2 | K562 | blood: | |
4 | chr8:6080157..6081666-chr8:6091415..6093477,2 | MCF-7 | breast: | |
5 | chr8:5905980..5908043-chr8:5909546..5912210,2 | K562 | blood: | |
6 | chr8:6115787..6116559-chr8:6229328..6229869,2 | MCF-7 | breast: | |
7 | chr8:5543604..5544126-chr8:5997197..5997756,2 | MCF-7 | breast: | |
8 | chr8:5933019..5936001-chr8:5936013..5938853,2 | K562 | blood: | |
9 | chr8:5933019..5936001-chr8:5936013..5938853,2 | K562 | blood: | |
10 | chr8:6178544..6180648-chr8:6180657..6183263,2 | K562 | blood: | |
11 | chr8:5917249..5917976-chr8:5997130..5997653,2 | MCF-7 | breast: | |
12 | chr8:6080157..6081666-chr8:6091415..6093477,2 | MCF-7 | breast: | |
13 | chr8:6084910..6087836-chr8:6095267..6098254,2 | K562 | blood: | |
14 | chr8:5745375..5747333-chr8:5749537..5752235,2 | K562 | blood: | |
15 | chr8:5933019..5935981-chr8:5937353..5939270,2 | K562 | blood: | |
16 | chr8:4919533..4920406-chr8:5997153..5998101,2 | MCF-7 | breast: | |
17 | chr8:5745375..5747333-chr8:5749537..5752235,2 | K562 | blood: | |
18 | chr8:6117190..6120021-chr8:6122326..6123985,2 | K562 | blood: | |
19 | chr8:6040393..6043249-chr8:6044843..6046899,2 | K562 | blood: | |
20 | chr8:4919838..4920394-chr8:5997449..5998189,2 | K562 | blood: | |
21 | chr8:5775799..5778570-chr8:6262790..6264825,2 | K562 | blood: | |
22 | chr8:6115678..6116241-chr8:6687345..6688278,2 | K562 | blood: | |
23 | chr8:6079332..6082540-chr8:6084426..6086508,3 | K562 | blood: | |
24 | chr8:5797855..5798416-chr8:5934095..5934883,2 | MCF-7 | breast: | |
25 | chr8:6084910..6087836-chr8:6095267..6098254,2 | K562 | blood: | |
26 | chr8:6116111..6116635-chr8:6188825..6189362,2 | MCF-7 | breast: | |
27 | chr8:5990205..5992800-chr8:5992973..5994775,2 | K562 | blood: | |
28 | chr8:6079332..6082540-chr8:6084426..6086508,3 | K562 | blood: | |
29 | chr8:6139049..6141857-chr8:6147372..6149538,2 | K562 | blood: | |
30 | chr8:5905980..5908043-chr8:5909546..5912210,2 | K562 | blood: | |
31 | chr8:5933019..5935981-chr8:5937353..5939270,2 | K562 | blood: | |
32 | chr8:6145627..6147844-chr8:6162410..6164202,2 | MCF-7 | breast: | |
33 | chr8:5707497..5710127-chr8:5711033..5712692,2 | K562 | blood: | |
34 | chr8:6175216..6177017-chr8:6178392..6180174,2 | K562 | blood: | |
35 | chr8:5917249..5917976-chr8:5997130..5997653,2 | MCF-7 | breast: | |
36 | chr8:6178544..6180648-chr8:6180657..6183263,2 | K562 | blood: | |
37 | chr8:5707497..5710127-chr8:5711033..5712692,2 | K562 | blood: | |
38 | chr8:6116111..6116635-chr8:6188825..6189362,2 | MCF-7 | breast: | |
39 | chr8:6145627..6147844-chr8:6162410..6164202,2 | MCF-7 | breast: | |
40 | chr8:5990205..5992800-chr8:5992973..5994775,2 | K562 | blood: | |
41 | chr10:132324298..132325038-chr8:6023084..6023812,2 | MCF-7 | breast: | |
42 | chr8:6175216..6177017-chr8:6178392..6180174,2 | K562 | blood: | |
43 | chr8:6117190..6120021-chr8:6122326..6123985,2 | K562 | blood: | |
44 | chr8:6106618..6108795-chr8:6113891..6116770,2 | K562 | blood: |
(count:22 , 50 per page) page:
1
No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-ANGPT2-12 | chr8:5768467-5768758 | NONHSAT124763 |
2 | lnc-ANGPT2-6 | chr8:5715806-5715922 | XLOC_006982 |
3 | lnc-ANGPT2-3 | chr8:5901875-5902047 | ENSG00000253880 |
4 | lnc-ANGPT2-6 | chr8:5751155-5751303 | XLOC_006982 |
5 | lnc-ANGPT2-3 | chr8:5957850-5957973 | ENSG00000253880 |
6 | lnc-ANGPT2-4 | chr8:5894372-5894496 | ENSG00000253189 |
7 | lnc-ANGPT2-3 | chr8:5923520-5923650 | XLOC_006984 |
8 | lnc-ANGPT2-3 | chr8:5916524-5916600 | ENSG00000253880 |
9 | lnc-ANGPT2-3 | chr8:5916524-5916659 | XLOC_006984 |
10 | lnc-ANGPT2-13 | chr8:5738563-5738710 | l_3534_chr8:5703213-5738710_testes |
11 | lnc-ANGPT2-3 | chr8:6114933-6115058 | ENSG00000253880 |
12 | lnc-ANGPT2-4 | chr8:5893955-5893990 | ENSG00000253189 |
13 | lnc-ANGPT2-4 | chr8:5894123-5894292 | ENSG00000253189 |
14 | lnc-ANGPT2-3 | chr8:5917266-5917339 | XLOC_006984 |
15 | lnc-ANGPT2-3 | chr8:5917266-5917339 | ENSG00000253880 |
16 | lnc-ANGPT2-13 | chr8:5703214-5703330 | l_3534_chr8:5703213-5738710_testes |
17 | lnc-MCPH1-4 | chr8:5706219-5707214 | NONHSAT124761 |
18 | lnc-ANGPT2-5 | chr8:5858959-5859084 | XLOC_006983 |
19 | lnc-ANGPT2-6 | chr8:5757144-5757253 | XLOC_006982 |
20 | lnc-ANGPT2-5 | chr8:5860524-5860623 | XLOC_006983 |
21 | lnc-ANGPT2-11 | chr8:6082847-6083064 | NONHSAT124769 |
22 | lnc-ANGPT2-3 | chr8:5916281-5916302 | XLOC_006984 |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000253571 | TF binding region |
ENSG00000253880 | TF binding region |
RN7SKP159 | TF binding region |
ENSG00000253189 | TF binding region |
ENSG00000253571 | CpG island |
ENSG00000253880 | CpG island |
RN7SKP159 | CpG island |
ENSG00000253189 | CpG island |
ENSG00000253880 | chromatin interactions |
ENSG00000147316 | chromatin interactions |
ENSG00000246089 | chromatin interactions |
ACVR2A | miRNA target sites |
ACVR1B | miRNA target sites |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs557971006 | chr8:5699682-5699683 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
2 | rs74861563 | chr8:5699685-5699686 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
3 | rs184931806 | chr8:5699692-5699693 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
4 | rs555182518 | chr8:5699699-5699700 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
5 | rs115629270 | chr8:5699704-5699705 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
6 | rs554464900 | chr8:5699720-5699721 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
7 | rs541049492 | chr8:5699728-5699729 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
8 | rs370570762 | chr8:5699729-5699730 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
9 | rs560745799 | chr8:5699730-5699731 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
10 | rs528026731 | chr8:5699732-5699733 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
11 | rs7814743 | chr8:5699736-5699737 | Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
12 | rs564654825 | chr8:5699738-5699739 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
13 | rs189451304 | chr8:5699761-5699762 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
14 | rs566466722 | chr8:5699771-5699772 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
15 | rs11784922 | chr8:5699778-5699779 | Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
16 | rs550213719 | chr8:5699781-5699782 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
17 | rs568235766 | chr8:5699799-5699800 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
18 | rs529225656 | chr8:5699806-5699807 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
19 | rs181042970 | chr8:5699820-5699821 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
20 | rs565626834 | chr8:5699829-5699830 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
21 | rs186461889 | chr8:5699832-5699833 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
22 | rs75665259 | chr8:5699840-5699841 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
23 | rs201273632 | chr8:5699841-5699842 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
24 | rs569794284 | chr8:5699854-5699855 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
25 | rs150240310 | chr8:5699857-5699858 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
26 | rs555413827 | chr8:5699859-5699860 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
27 | rs573808585 | chr8:5699879-5699880 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
28 | rs534585402 | chr8:5699881-5699882 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
29 | rs189716133 | chr8:5699903-5699904 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
30 | rs7813854 | chr8:5699904-5699905 | Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
31 | rs181241779 | chr8:5699908-5699909 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
32 | rs139035245 | chr8:5699912-5699913 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
33 | rs576550630 | chr8:5699932-5699933 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
34 | rs76033587 | chr8:5699933-5699934 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
35 | rs558038721 | chr8:5699944-5699945 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
36 | rs561827820 | chr8:5699971-5699972 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
37 | rs142238585 | chr8:5699989-5699990 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
38 | rs376763982 | chr8:5699992-5699993 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
39 | rs145529087 | chr8:5701707-5701708 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
40 | rs375382442 | chr8:5701722-5701723 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
41 | rs184144723 | chr8:5701724-5701725 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
42 | rs10110759 | chr8:5701730-5701731 | Inactive region | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
43 | rs373411915 | chr8:5701734-5701735 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
44 | rs565430417 | chr8:5701747-5701748 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
45 | rs551170945 | chr8:5701752-5701753 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
46 | rs377379050 | chr8:5701764-5701765 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
47 | rs532886708 | chr8:5701773-5701774 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
48 | rs188894890 | chr8:5701777-5701778 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
49 | rs569431233 | chr8:5701815-5701816 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
50 | rs148846923 | chr8:5701836-5701837 | Inactive region | TF binding region | 1 gene(s) | 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 |
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 |
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 |
Breast cancer | 21364760 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Lung cancer | 18438408 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Colorectal cancer | 16774939 | CNVD |
Lung squamous cell carcinoma | 22363434 | CNVD |
Cancer | 20164919 | CNVD |
Non-syndromic sensorineural hearing loss | 17289997 | CNVD |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
Chronic myeloid leukemia | 21384125 | CNVD |
Tetralogy of Fallot | 22912587 | CNVD |
Type 2 diabetes | 21526130 | CNVD |
Medulloblastoma | 16783165 | CNVD |
Schizophrenia | 20967226 | CNVD |
Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
Renal cell carcinoma | 21215367 | CNVD |
Non-syndromic sensorineural hearing loss | 19587683 | CNVD |
Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
Melanoma | 20688739 | CNVD |
Osteosarcoma | 21215367 | CNVD |
early-passage human iPS cells | 21368824 | CNVD |
Gastric cancer | 18160780 | CNVD |
Breast cancer | 21990379 | CNVD |
Psoriasis | 20403174 | CNVD |
Psoriasis | 20663923 | CNVD |
Crohn''s disease | 16909382 | CNVD |
Cancer | 21129771 | CNVD |
Congenital diaphragmatic hernia | 21085971 | CNVD |
Crohn''s disease | 20877625 | CNVD |
Inflammatory disorder | 20877625 | CNVD |
Cardiac defect | 21933911 | CNVD |
Psoriasis | 18059266 | CNVD |
Barrett''s adenocarcinoma | 18663352 | CNVD |
Psoriasis | 20877625 | CNVD |
Mental retardation | 17847001 | CNVD |
Schizophrenia | 21399695 | CNVD |
Colorectal cancer | 21128281 | CNVD |
Colorectal cancer | 19455253 | CNVD |
Psoriasis | 18848619 | CNVD |
Squamous cell cancer | 19047905 | CNVD |
Colorectal cancer | 17229543 | CNVD |
Gastrointestinal stromal cancer | 19259404 | CNVD |
Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr8:5699600-5700000 | Active TSS | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
2 | chr8:5732800-5735400 | Weak transcription | Fetal Heart | heart |
3 | chr8:5735400-5735600 | Enhancers | Fetal Heart | heart |
4 | chr8:5755000-5755400 | Active TSS | Hela-S3 | cervix |
5 | chr8:5759400-5759600 | Enhancers | HUES48 Cell Line | embryonic stem cell |
6 | chr8:5759400-5759600 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
7 | chr8:5759600-5760200 | Weak transcription | iPS-20b Cell Line | embryonic stem cell |
8 | chr8:5759800-5761000 | Weak transcription | HUES48 Cell Line | embryonic stem cell |
9 | chr8:5760200-5761600 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
10 | chr8:5760800-5761600 | Enhancers | H1 Cell Line | embryonic stem cell |
11 | chr8:5761000-5761400 | Enhancers | HUES48 Cell Line | embryonic stem cell |
12 | chr8:5761000-5761600 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
13 | chr8:5761400-5762000 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
14 | chr8:5761400-5763400 | Weak transcription | HUES48 Cell Line | embryonic stem cell |
15 | chr8:5761600-5762000 | Weak transcription | H1 Cell Line | embryonic stem cell |
16 | chr8:5761600-5763400 | Weak transcription | iPS-18 Cell Line | embryonic stem cell |
17 | chr8:5761600-5763400 | Weak transcription | iPS-20b Cell Line | embryonic stem cell |
18 | chr8:5762000-5762200 | Enhancers | H1 Cell Line | embryonic stem cell |
19 | chr8:5762000-5762200 | Genic enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |
20 | chr8:5762000-5762400 | Active TSS | H1 Derived Mesenchymal Stem Cells | ES cell derived |
21 | chr8:5762200-5764000 | Weak transcription | H1 Cell Line | embryonic stem cell |
22 | chr8:5762200-5764600 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
23 | chr8:5763400-5763600 | Enhancers | H9 Cell Line | embryonic stem cell |
24 | chr8:5763400-5764200 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
25 | chr8:5763400-5764600 | Enhancers | HUES48 Cell Line | embryonic stem cell |
26 | chr8:5763400-5765600 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
27 | chr8:5763400-5765800 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
28 | chr8:5763600-5764200 | Enhancers | HUES6 Cell Line | embryonic stem cell |
29 | chr8:5763600-5764600 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
30 | chr8:5763800-5764600 | Weak transcription | H9 Cell Line | embryonic stem cell |
31 | chr8:5764000-5764200 | Enhancers | iPS DF 6.9 Cell Line | embryonic stem cell |
32 | chr8:5764000-5764600 | Enhancers | H1 Cell Line | embryonic stem cell |
33 | chr8:5764600-5765000 | Weak transcription | H1 Cell Line | embryonic stem cell |
34 | chr8:5764600-5765400 | Enhancers | H9 Cell Line | embryonic stem cell |
35 | chr8:5764600-5765600 | Enhancers | HUES64 Cell Line | embryonic stem cell |
36 | chr8:5765000-5765600 | Enhancers | H1 Cell Line | embryonic stem cell |
37 | chr8:5772600-5774600 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
38 | chr8:5773000-5774800 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Female | -- |
39 | chr8:5792200-5794800 | Enhancers | Dnd41 | blood |
40 | chr8:5796200-5796600 | Enhancers | Fetal Heart | heart |
41 | chr8:5806600-5809600 | Weak transcription | Fetal Heart | heart |
42 | chr8:5809600-5810800 | Enhancers | Fetal Heart | heart |
43 | chr8:5815200-5816000 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Female | -- |
44 | chr8:5815400-5816000 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
45 | chr8:5815600-5815800 | Weak transcription | Fetal Heart | heart |
46 | chr8:5815800-5816000 | Enhancers | Fetal Heart | heart |
47 | chr8:5816000-5818600 | Weak transcription | Fetal Heart | heart |
48 | chr8:5816000-5819200 | Weak transcription | Primary hematopoietic stem cells G-CSF-mobilized Female | -- |
49 | chr8:5816000-5819400 | Weak transcription | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
50 | chr8:5818600-5820600 | Enhancers | Fetal Heart | heart |