Variant report
Variant | nsv1034265 |
---|---|
Chromosome Location | chr8:20742935-21152545 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:1643)
- CpG islands (count:61)
- Chromatin interactive region (count:53)
- LncRNA region (count:90)
- 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 | chr8:20898739-20898891 | HepG2 | liver: | n/a | n/a |
2 | ARID3A | chr8:20898739-20898837 | K562 | blood: | n/a | n/a |
3 | ATF1 | chr8:20809628-20809937 | K562 | blood: | n/a | n/a |
4 | ATF2 | chr8:21039702-21040202 | GM12878 | blood: | n/a | n/a |
5 | ATF2 | chr8:21032011-21032389 | GM12878 | blood: | n/a | n/a |
6 | ATF2 | chr8:21039736-21040167 | GM12878 | blood: | n/a | n/a |
7 | ATF3 | chr8:20891514-20891728 | K562 | blood: | n/a | n/a |
8 | BACH1 | chr8:20813151-20813198 | H1-hESC | embryonic stem cell: | n/a | n/a |
9 | BACH1 | chr8:21110712-21110723 | H1-hESC | embryonic stem cell: | n/a | n/a |
10 | BACH1 | chr8:21035178-21035180 | K562 | blood: | n/a | n/a |
11 | BATF | chr8:20961550-20961882 | GM12878 | blood: | n/a | chr8:20961720-20961731 |
12 | BATF | chr8:21039838-21040187 | GM12878 | blood: | n/a | n/a |
13 | BATF | chr8:21039791-21040093 | GM12878 | blood: | n/a | n/a |
14 | BATF | chr8:20961526-20961830 | GM12878 | blood: | n/a | chr8:20961720-20961731 |
15 | BCL11A | chr8:21039822-21040106 | GM12878 | blood: | n/a | n/a |
16 | BCL11A | chr8:21032090-21032306 | GM12878 | blood: | n/a | n/a |
17 | BCL11A | chr8:21039777-21040139 | GM12878 | blood: | n/a | n/a |
18 | BCL3 | chr8:20871346-20871797 | GM12878 | blood: | n/a | n/a |
19 | BCL3 | chr8:20836598-20836879 | GM12878 | blood: | n/a | n/a |
20 | BCL3 | chr8:20871364-20871889 | GM12878 | blood: | n/a | n/a |
21 | BCL3 | chr8:21017339-21018243 | GM12878 | blood: | n/a | n/a |
22 | BCL3 | chr8:21000353-21000601 | GM12878 | blood: | n/a | chr8:21000463-21000472 chr8:21000464-21000473 |
23 | BCL3 | chr8:21017363-21018430 | GM12878 | blood: | n/a | n/a |
24 | BHLHE40 | chr8:21039870-21040070 | GM12878 | blood: | n/a | n/a |
25 | BHLHE40 | chr8:21147859-21148117 | GM12878 | blood: | n/a | n/a |
26 | BHLHE40 | chr8:20891661-20891672 | K562 | blood: | n/a | n/a |
27 | BHLHE40 | chr8:21096295-21096298 | K562 | blood: | n/a | n/a |
28 | BHLHE40 | chr8:20898617-20899322 | K562 | blood: | n/a | chr8:20898790-20898806 |
29 | BHLHE40 | chr8:21032073-21032327 | GM12878 | blood: | n/a | n/a |
30 | BHLHE40 | chr8:20898691-20898929 | GM12878 | blood: | n/a | chr8:20898790-20898806 |
31 | BRCA1 | chr8:21121799-21121925 | Hela-S3 | cervix: | n/a | n/a |
32 | BRCA1 | chr8:20871437-20871485 | GM12878 | blood: | n/a | n/a |
33 | BRCA1 | chr8:20898669-20898930 | H1-hESC | embryonic stem cell: | n/a | n/a |
34 | CCNT2 | chr8:20809452-20809864 | K562 | blood: | n/a | chr8:20809683-20809703 |
35 | CCNT2 | chr8:20875218-20875595 | K562 | blood: | n/a | n/a |
36 | CEBPB | chr8:21105229-21105433 | A549 | lung: | n/a | chr8:21105317-21105328 |
37 | CEBPB | chr8:20852958-20853147 | K562 | blood: | n/a | n/a |
38 | CEBPB | chr8:20830191-20830296 | H1-hESC | embryonic stem cell: | n/a | chr8:20830220-20830231 |
39 | CEBPB | chr8:20809083-20809266 | H1-hESC | embryonic stem cell: | n/a | n/a |
40 | CEBPB | chr8:20768496-20768814 | HepG2 | liver: | n/a | chr8:20768654-20768665 |
41 | CEBPB | chr8:20810943-20811214 | A549 | lung: | n/a | chr8:20811090-20811101 |
42 | CEBPB | chr8:21005690-21005742 | HepG2 | liver: | n/a | chr8:21005710-21005721 |
43 | CEBPB | chr8:20840086-20840263 | HepG2 | liver: | n/a | chr8:20840222-20840233 |
44 | CEBPB | chr8:20810677-20811262 | IMR90 | lung: | n/a | chr8:20811090-20811101 |
45 | CEBPB | chr8:20757415-20757431 | A549 | lung: | n/a | n/a |
46 | CEBPB | chr8:20768506-20768831 | A549 | lung: | n/a | chr8:20768654-20768665 |
47 | CEBPB | chr8:20810953-20811181 | K562 | blood: | n/a | chr8:20811090-20811101 |
48 | CEBPB | chr8:20768508-20768763 | K562 | blood: | n/a | chr8:20768654-20768665 |
49 | CEBPB | chr8:20925030-20925226 | Hela-S3 | cervix: | n/a | n/a |
50 | CEBPB | chr8:20852924-20853124 | HepG2 | liver: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr8:20899208-20899258 | NHDF-neo | bronchial: | n/a |
2 | chr8:20899208-20899258 | SK-N-SH_RA | brain: | n/a |
3 | chr8:20899208-20899258 | GM12878 | blood: | n/a |
4 | chr8:20899208-20899258 | NH-A | brain: | n/a |
5 | chr8:20899208-20899258 | SK-N-SH | brain: | n/a |
6 | chr8:20899208-20899258 | PANC-1 | pancreas: | n/a |
7 | chr8:20899208-20899258 | AG04450 | lung: | fetal |
8 | chr8:20899208-20899258 | NB4 | blood: | n/a |
9 | chr8:20899208-20899258 | IMR90 | lung: | fetal |
10 | chr8:20899208-20899258 | HEEpiC | esophagus: | n/a |
11 | chr8:20899208-20899258 | GM19239 | blood: | n/a |
12 | chr8:20899208-20899258 | HAEpiC | amniotic membrane: | n/a |
13 | chr8:20899208-20899258 | SAEC | small airway: | n/a |
14 | chr8:20899208-20899258 | BJ | skin: | n/a |
15 | chr8:20899208-20899258 | HCT-116 | colon: | n/a |
16 | chr8:20899208-20899258 | HCPEpiC | choroid plexus: | n/a |
17 | chr8:20899208-20899258 | AG10803 | skin: | n/a |
18 | chr8:20899208-20899258 | Hela-S3 | cervix: | n/a |
19 | chr8:20899208-20899258 | HMEC | breast: | n/a |
20 | chr8:20899208-20899258 | HepG2 | liver: | n/a |
21 | chr8:20899208-20899258 | BE2_C | brain: | n/a |
22 | chr8:20899208-20899258 | ovcar-3 | ovarian: | n/a |
23 | chr8:20899208-20899258 | ProgFib | skin: | n/a |
24 | chr8:20899208-20899258 | K562 | blood: | n/a |
25 | chr8:20899208-20899258 | HUVEC | blood vessel: | n/a |
26 | chr8:20899208-20899258 | GM12892 | blood: | n/a |
27 | chr8:20899208-20899258 | GM06990 | blood: | n/a |
28 | chr8:20899208-20899258 | NHBE | bronchial: | n/a |
29 | chr8:20899208-20899258 | HEK293 | kidney: | embryo |
30 | chr8:20899208-20899258 | A549 | lung: | n/a |
31 | chr8:20899208-20899258 | AG09319 | gingival: | n/a |
32 | chr8:20899208-20899258 | Jurkat | blood: | n/a |
33 | chr8:20899208-20899258 | Caco-2 | colon: | n/a |
34 | chr8:20899208-20899258 | ECC-1 | luminal epithelium: | n/a |
35 | chr8:20899208-20899258 | NT2-D1 | testis: | n/a |
36 | chr8:20899208-20899258 | HNPCEpiC | eye: | n/a |
37 | chr8:20899208-20899258 | MCF10A-Er-Src | breast: | n/a |
38 | chr8:20899208-20899258 | HIPEpiC | eye: | n/a |
39 | chr8:20899208-20899258 | HRCEpiC | kidney: | n/a |
40 | chr8:20899208-20899258 | U87 | brain: | n/a |
41 | chr8:20899208-20899258 | LNCaP | prostate: | n/a |
42 | chr8:20899208-20899258 | T-47D | breast: | n/a |
43 | chr8:20899208-20899258 | CMK | blood: | n/a |
44 | chr8:20899208-20899258 | SK-N-MC | brain: | n/a |
45 | chr8:20899208-20899258 | GM12891 | blood: | n/a |
46 | chr8:20899208-20899258 | AG04449 | skin: | fetal |
47 | chr8:20899208-20899258 | PrEC | prostate: | n/a |
48 | chr8:20899208-20899258 | HRPEpiC | eye: | n/a |
49 | chr8:20899208-20899258 | SKMC | muscle: | n/a |
50 | chr8:20899208-20899258 | Hepatocyte | liver: | n/a |
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr8:20984570..20986928-chr8:20991210..20994043,2 | K562 | blood: | |
2 | chr8:20750920..20753775-chr8:20759115..20761137,3 | K562 | blood: | |
3 | chr8:20920073..20922021-chr8:20924691..20926689,2 | K562 | blood: | |
4 | chr8:21015073..21016879-chr8:21019625..21021848,2 | K562 | blood: | |
5 | chr8:20400181..20400690-chr8:20854628..20855500,2 | MCF-7 | breast: | |
6 | chr8:20920073..20922021-chr8:20924691..20926689,2 | K562 | blood: | |
7 | chr8:21000646..21002417-chr8:21003581..21006297,2 | K562 | blood: | |
8 | chr8:20767548..20769104-chr8:20769526..20772463,2 | MCF-7 | breast: | |
9 | chr8:20986575..20987388-chr8:21641622..21642126,2 | MCF-7 | breast: | |
10 | chr20:55800391..55800924-chr8:20778716..20779696,2 | MCF-7 | breast: | |
11 | chr8:20292913..20293496-chr8:21104301..21104905,3 | MCF-7 | breast: | |
12 | chr8:21000646..21002417-chr8:21003581..21006297,2 | K562 | blood: | |
13 | chr8:20898532..20899166-chr8:21104084..21105006,2 | MCF-7 | breast: | |
14 | chr8:20737626..20740045-chr8:20787296..20789914,2 | K562 | blood: | |
15 | chr8:21121981..21124701-chr8:21143370..21145716,2 | MCF-7 | breast: | |
16 | chr8:21046396..21048432-chr8:21052883..21055018,2 | K562 | blood: | |
17 | chr8:20940533..20944455-chr8:21040696..21044387,3 | K562 | blood: | |
18 | chr8:20781724..20783659-chr8:20784151..20785678,2 | K562 | blood: | |
19 | chr8:20831135..20833950-chr8:20835824..20837842,2 | K562 | blood: | |
20 | chr8:20983096..20985679-chr8:20989458..20991827,2 | K562 | blood: | |
21 | chr8:20919649..20922445-chr8:20924691..20927492,3 | K562 | blood: | |
22 | chr8:20950968..20952803-chr8:20959075..20960715,2 | K562 | blood: | |
23 | chr8:20940533..20944455-chr8:21040696..21044387,3 | K562 | blood: | |
24 | chr8:21046396..21048432-chr8:21052883..21055018,2 | K562 | blood: | |
25 | chr8:20750920..20753775-chr8:20759115..20761137,3 | K562 | blood: | |
26 | chr8:20839365..20841858-chr8:20843930..20846390,2 | K562 | blood: | |
27 | chr8:21104851..21107287-chr8:21162749..21165665,2 | K562 | blood: | |
28 | chr8:20898532..20899166-chr8:21104084..21105006,2 | MCF-7 | breast: | |
29 | chr8:21000566..21002926-chr8:21006520..21008330,2 | K562 | blood: | |
30 | chr8:20767548..20769104-chr8:20769526..20772463,2 | MCF-7 | breast: | |
31 | chr8:20856229..20857904-chr8:20875184..20876772,2 | K562 | blood: | |
32 | chr8:21039519..21041986-chr8:21043567..21045082,2 | K562 | blood: | |
33 | chr8:21000566..21002926-chr8:21006520..21008330,2 | K562 | blood: | |
34 | chr8:20898154..20898861-chr8:21641597..21642547,2 | MCF-7 | breast: | |
35 | chr8:21085653..21087927-chr8:21091745..21093754,2 | K562 | blood: | |
36 | chr8:20893311..20895358-chr8:20895433..20897444,2 | K562 | blood: | |
37 | chr8:21113902..21115824-chr8:21182173..21184691,2 | MCF-7 | breast: | |
38 | chr8:21015073..21016879-chr8:21019625..21021848,2 | K562 | blood: | |
39 | chr8:20984570..20986928-chr8:20991210..20994043,2 | K562 | blood: | |
40 | chr8:21085653..21087927-chr8:21091745..21093754,2 | K562 | blood: | |
41 | chr8:20781724..20783659-chr8:20784151..20785678,2 | K562 | blood: | |
42 | chr8:20297170..20297886-chr8:20854968..20855533,2 | MCF-7 | breast: | |
43 | chr8:20806761..20808497-chr8:20810222..20812992,2 | K562 | blood: | |
44 | chr8:20919649..20922445-chr8:20924691..20927492,3 | K562 | blood: | |
45 | chr8:20856229..20857904-chr8:20875184..20876772,2 | K562 | blood: | |
46 | chr8:20839365..20841858-chr8:20843930..20846390,2 | K562 | blood: | |
47 | chr8:20893311..20895358-chr8:20895433..20897444,2 | K562 | blood: | |
48 | chr8:20897307..20899039-chr8:20900346..20903316,2 | K562 | blood: | |
49 | chr8:21121981..21124701-chr8:21143370..21145716,2 | MCF-7 | breast: | |
50 | chr8:20897307..20899039-chr8:20900346..20903316,2 | K562 | blood: |
No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-ATP6V1B2-5 | chr8:20811352-20811590 | ENSG00000253147 |
2 | lnc-LZTS1-2 | chr8:20810905-20811014 | XLOC_007018 |
3 | lnc-ATP6V1B2-5 | chr8:20813196-20813346 | XLOC_006734 |
4 | lnc-ATP6V1B2-4 | chr8:20800453-20800763 | ENSG00000254260 |
5 | lnc-ATP6V1B2-10 | chr8:20885248-20885897 | refGeneNc_4250_NR_033894 |
6 | lnc-ATP6V1B2-5 | chr8:20826298-20826415 | ENSG00000254026 |
7 | lnc-ATP6V1B2-5 | chr8:20826298-20826427 | XLOC_006734 |
8 | lnc-ATP6V1B2-5 | chr8:20820292-20820406 | ENSG00000253147 |
9 | lnc-ATP6V1B2-5 | chr8:20810638-20811204 | NONHSAT125407 |
10 | lnc-ATP6V1B2-5 | chr8:20813196-20813631 | XLOC_006734 |
11 | lnc-ATP6V1B2-5 | chr8:20820292-20820412 | XLOC_006734 |
12 | lnc-ATP6V1B2-5 | chr8:20820292-20820412 | XLOC_006734 |
13 | lnc-GFRA2-6 | chr8:20856446-20856535 | l_3557_chr8:20853997-20856467_brain |
14 | lnc-ATP6V1B2-5 | chr8:20811352-20811586 | XLOC_006734 |
15 | lnc-ATP6V1B2-5 | chr8:20831308-20832033 | ENSG00000253199 |
16 | lnc-ATP6V1B2-5 | chr8:20810937-20811204 | XLOC_006734 |
17 | lnc-ATP6V1B2-5 | chr8:20812165-20812283 | NONHSAT125407 |
18 | lnc-ATP6V1B2-5 | chr8:20813196-20813345 | ENSG00000253147 |
19 | lnc-ATP6V1B2-5 | chr8:20852291-20852334 | XLOC_006734 |
20 | lnc-ATP6V1B2-5 | chr8:20832315-20832540 | ENSG00000253199 |
21 | lnc-ATP6V1B2-5 | chr8:20811352-20811586 | XLOC_006734 |
22 | lnc-ATP6V1B2-5 | chr8:20832315-20832533 | XLOC_006734 |
23 | lnc-GFRA2-6 | chr8:20875524-20876313 | l_3557_chr8:20853997-20856467_brain |
24 | lnc-ATP6V1B2-5 | chr8:20831248-20831509 | XLOC_006734 |
25 | lnc-ATP6V1B2-5 | chr8:20820144-20820412 | NONHSAT125418 |
26 | lnc-ATP6V1B2-5 | chr8:20813196-20813345 | ENSG00000253147 |
27 | lnc-ATP6V1B2-9 | chr8:20864572-20864692 | l_3558_chr8:20855416-20870707_testes |
28 | lnc-ATP6V1B2-9 | chr8:20857476-20857627 | l_3558_chr8:20855416-20870707_testes |
29 | lnc-ATP6V1B2-6 | chr8:20886417-20886569 | ENSG00000254040 |
30 | lnc-ATP6V1B2-5 | chr8:20813196-20813347 | XLOC_006734 |
31 | lnc-ATP6V1B2-5 | chr8:20826298-20826415 | ENSG00000253147 |
32 | lnc-ATP6V1B2-5 | chr8:20813195-20813631 | NONHSAT125407 |
33 | lnc-ATP6V1B2-5 | chr8:20811154-20811204 | XLOC_006734 |
34 | lnc-ATP6V1B2-5 | chr8:20820292-20820412 | XLOC_006734 |
35 | lnc-ATP6V1B2-9 | chr8:20855632-20855866 | l_3558_chr8:20855416-20870707_testes |
36 | lnc-ATP6V1B2-5 | chr8:20831860-20832033 | XLOC_006734 |
37 | lnc-ATP6V1B2-5 | chr8:20811352-20811586 | ENSG00000253147 |
38 | lnc-ATP6V1B2-5 | chr8:20852540-20852630 | XLOC_006734 |
39 | lnc-ATP6V1B2-5 | chr8:20820076-20820412 | NONHSAT125407 |
40 | lnc-ATP6V1B2-5 | chr8:20840968-20841617 | XLOC_006734 |
41 | lnc-GFRA2-6 | chr8:20853998-20854707 | l_3557_chr8:20853997-20856467_brain |
42 | lnc-GFRA2-2 | chr8:20986395-20986642 | XLOC_007019 |
43 | lnc-ATP6V1B2-5 | chr8:20811153-20811204 | ENSG00000253147 |
44 | lnc-ATP6V1B2-5 | chr8:20811523-20811586 | ENSG00000254026 |
45 | lnc-ATP6V1B2-10 | chr8:20896820-20896910 | refGeneNc_4250_NR_033894 |
46 | lnc-ATP6V1B2-5 | chr8:20811352-20811590 | XLOC_006734 |
47 | lnc-ATP6V1B2-5 | chr8:20811154-20811204 | XLOC_006734 |
48 | lnc-LZTS1-2 | chr8:20810159-20810427 | XLOC_007018 |
49 | lnc-ATP6V1B2-4 | chr8:20806210-20806304 | ENSG00000254260 |
50 | lnc-ATP6V1B2-5 | chr8:20831497-20832164 | XLOC_006734 |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000254260 | TF binding region |
TMEM97P2 | TF binding region |
ENSG00000215945 | TF binding region |
ENSG00000254026 | TF binding region |
ENSG00000253147 | TF binding region |
ENSG00000253199 | TF binding region |
ENSG00000254334 | TF binding region |
ENSG00000254092 | TF binding region |
ENSG00000254040 | TF binding region |
ENSG00000254260 | CpG island |
TMEM97P2 | CpG island |
ENSG00000215945 | CpG island |
ENSG00000254026 | CpG island |
ENSG00000253147 | CpG island |
ENSG00000253199 | CpG island |
ENSG00000254334 | CpG island |
ENSG00000254092 | CpG island |
ENSG00000254040 | CpG island |
ENSG00000253199 | chromatin interactions |
ENSG00000254026 | chromatin interactions |
ENSG00000254092 | chromatin interactions |
ENSG00000253147 | chromatin interactions |
SCD | miRNA target sites |
HIF1AN | miRNA target sites |
SCARB1 | miRNA target sites |
LDLR | miRNA target sites |
BMPR2 | miRNA target sites |
CAB39 | miRNA target sites |
TP53 | miRNA target sites |
GRB2 | miRNA target sites |
RAB14 | miRNA target sites |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs115552497 | chr8:20742942-20742943 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs528735120 | chr8:20742943-20742944 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs149333398 | chr8:20742951-20742952 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs74610137 | chr8:20742984-20742985 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs145417516 | chr8:20742992-20742993 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs546532962 | chr8:20743000-20743001 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs571170465 | chr8:20743014-20743015 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs73668266 | chr8:20743055-20743056 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
9 | rs550489651 | chr8:20743059-20743060 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs114825882 | chr8:20743073-20743074 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs138051788 | chr8:20743111-20743112 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs554643869 | chr8:20743129-20743130 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs187919543 | chr8:20743143-20743144 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs191270191 | chr8:20743179-20743180 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs558882016 | chr8:20743263-20743264 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs532371130 | chr8:20743317-20743318 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs577194531 | chr8:20743320-20743321 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs184261926 | chr8:20743330-20743331 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs541282627 | chr8:20743334-20743335 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs369859722 | chr8:20743344-20743345 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs529742009 | chr8:20743351-20743352 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs550921758 | chr8:20743368-20743369 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs563213358 | chr8:20743386-20743387 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs6984780 | chr8:20743401-20743402 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
25 | rs79527690 | chr8:20743404-20743405 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs560529454 | chr8:20743439-20743440 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs150964823 | chr8:20743488-20743489 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs369696096 | chr8:20743508-20743509 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs528153691 | chr8:20743530-20743531 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs71512791 | chr8:20743540-20743541 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
31 | rs374364384 | chr8:20743541-20743542 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs372846642 | chr8:20743579-20743580 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs71512792 | chr8:20743621-20743622 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs564876866 | chr8:20743623-20743624 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs75706790 | chr8:20743632-20743633 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs189219569 | chr8:20743645-20743646 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs568862323 | chr8:20743676-20743677 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs528338413 | chr8:20743691-20743692 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs75674540 | chr8:20743693-20743694 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs201358937 | chr8:20743704-20743705 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs77460929 | chr8:20743738-20743739 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs566567633 | chr8:20743753-20743754 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs534276807 | chr8:20743853-20743854 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs76093513 | chr8:20743860-20743861 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs567115549 | chr8:20743915-20743916 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs138624579 | chr8:20743931-20743932 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs538287247 | chr8:20743948-20743949 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs181163486 | chr8:20743963-20743964 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs569301242 | chr8:20743975-20743976 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs532086829 | chr8:20743993-20743994 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Multiple myeloma | 16616336 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Heart disease | 21282601 | CNVD |
High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
Prostate cancer | 16573809 | 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 |
Prostate cancer | 21965145 | 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 |
Colorectal cancer | 16272173 | 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 |
Acute myeloid leukemia | 21251322 | CNVD |
Prostate cancer | 18632612 | CNVD |
Breast cancer | 21858162 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Liver carcinoma | 19366792 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Breast cancer | 16608533 | CNVD |
Seminomas | 18059402 | CNVD |
Lung cancer | 18438408 | CNVD |
Medulloblastoma | 16783165 | CNVD |
Non-syndromic sensorineural hearing loss | 20606397 | CNVD |
Gastrointestinal stromal cancer | 19259404 | CNVD |
Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
Myxofibrosarcoma | 16751306 | CNVD |
Immune disease | 21572526 | CNVD |
Non-small cell lung cancer | 21829676 | CNVD |
Ovarian neoplasms | 16753589 | CNVD |
Kallmann Syndrome 2 | 22470819 | CNVD |
Autism | 22495311 | CNVD |
Acute lymphoblastic leukemia | 21390130 | CNVD |
Ovarian clear cell carcinoma | 21343371 | CNVD |
Epilepsy | 22083797 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Prostate cancer | 16461572 | CNVD |
Breast cancer | 17603634 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Bladder cancer | 21909424 | CNVD |
Multiple myeloma | 17550852 | CNVD |
Pancreatic cancer | 21811587 | CNVD |
Multiple myeloma | 16461302 | CNVD |
Developmental delay | 21373258 | CNVD |
Thyroid cancer | 19087340 | CNVD |
Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
Acute lymphoblastic leukemia | 21339820 | CNVD |
Breast cancer | 21364760 | CNVD |
Pancreatic endocrine tumor | 17639061 | CNVD |
Cancer | 18840272 | CNVD |
Breast cancer | 19602461 | CNVD |
Osteosarcoma | 19286668 | CNVD |
Prostate cancer | 19242612 | CNVD |
Prostate cancer | 19258508 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Primary central nervous system lymphoma | 21088137 | CNVD |
Gastric adenocarcinoma | 19115996 | CNVD |
Colorectal cancer | 19455253 | CNVD |
Melanoma | 20688739 | CNVD |
Esophageal adenocarcinoma | 19417022 | CNVD |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
early-passage human iPS cells | 21368824 | CNVD |
Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
Chordoma | 21215367 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr8:20742800-20745200 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
2 | chr8:20745200-20745600 | Enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |
3 | chr8:20750800-20752200 | Enhancers | Fetal Adrenal Gland | Adrenal Gland |
4 | chr8:20760600-20761800 | Enhancers | Breast Myoepithelial Primary Cells | Breast |
5 | chr8:20760800-20761200 | Enhancers | Brain Inferior Temporal Lobe | brain |
6 | chr8:20761400-20764200 | Weak transcription | iPS DF 6.9 Cell Line | embryonic stem cell |
7 | chr8:20762400-20762600 | Enhancers | H9 Cell Line | embryonic stem cell |
8 | chr8:20763400-20763600 | Enhancers | H9 Cell Line | embryonic stem cell |
9 | chr8:20763400-20763800 | Enhancers | HUES6 Cell Line | embryonic stem cell |
10 | chr8:20764200-20765000 | Enhancers | iPS DF 6.9 Cell Line | embryonic stem cell |
11 | chr8:20765000-20765200 | Enhancers | H9 Cell Line | embryonic stem cell |
12 | chr8:20765200-20765400 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
13 | chr8:20765400-20774000 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
14 | chr8:20765600-20766000 | Enhancers | Rectal Mucosa Donor 29 | rectum |
15 | chr8:20766000-20766600 | Enhancers | Rectal Mucosa Donor 31 | rectum |
16 | chr8:20767600-20767800 | Enhancers | Left Ventricle | heart |
17 | chr8:20767800-20768200 | Enhancers | Fetal Heart | heart |
18 | chr8:20768000-20768400 | Enhancers | Brain Germinal Matrix | brain |
19 | chr8:20768200-20769800 | Weak transcription | Fetal Heart | heart |
20 | chr8:20769800-20771800 | Enhancers | Fetal Heart | heart |
21 | chr8:20770000-20771400 | Enhancers | Left Ventricle | heart |
22 | chr8:20772800-20773600 | Enhancers | Primary hematopoietic stem cells short term culture | blood |
23 | chr8:20772800-20773600 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
24 | chr8:20773000-20773600 | Enhancers | Monocytes-CD14+_RO01746 | blood |
25 | chr8:20773000-20773800 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Female | -- |
26 | chr8:20773000-20774600 | Enhancers | Primary monocytes fromperipheralblood | blood |
27 | chr8:20773000-20774800 | Enhancers | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
28 | chr8:20773400-20774200 | Bivalent Enhancer | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
29 | chr8:20774000-20774800 | Enhancers | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
30 | chr8:20774000-20774800 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
31 | chr8:20774000-20775000 | Enhancers | H1 Cell Line | embryonic stem cell |
32 | chr8:20774200-20774800 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
33 | chr8:20774200-20774800 | Enhancers | iPS DF 6.9 Cell Line | embryonic stem cell |
34 | chr8:20774200-20775000 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
35 | chr8:20774200-20775200 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
36 | chr8:20774400-20774800 | Enhancers | HUES64 Cell Line | embryonic stem cell |
37 | chr8:20774800-20777200 | Weak transcription | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
38 | chr8:20775200-20775600 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
39 | chr8:20775600-20775800 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
40 | chr8:20775800-20776400 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
41 | chr8:20776400-20777600 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
42 | chr8:20781600-20781800 | Enhancers | Primary hematopoietic stem cells | blood |
43 | chr8:20781600-20782400 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
44 | chr8:20781800-20782400 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Female | -- |
45 | chr8:20782400-20785400 | Weak transcription | Primary hematopoietic stem cells G-CSF-mobilized Female | -- |
46 | chr8:20782400-20785400 | Weak transcription | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
47 | chr8:20785400-20786600 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Female | -- |
48 | chr8:20785400-20786800 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
49 | chr8:20785600-20786400 | Enhancers | Primary hematopoietic stem cells | blood |
50 | chr8:20785800-20786200 | Enhancers | Primary hematopoietic stem cells short term culture | blood |