Variant report
Variant | nsv1028579 |
---|---|
Chromosome Location | chr8:131909872-132497149 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:2193)
- CpG islands (count:1708)
- Chromatin interactive region (count:51)
- LncRNA region (count:38)
- 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 | ATF2 | chr8:132054498-132054919 | H1-hESC | embryonic stem cell: | n/a | chr8:132054706-132054720 |
2 | ATF2 | chr8:132262328-132262736 | GM12878 | blood: | n/a | n/a |
3 | ATF2 | chr8:132054444-132054953 | H1-hESC | embryonic stem cell: | n/a | chr8:132054706-132054720 |
4 | ATF2 | chr8:132044588-132045050 | H1-hESC | embryonic stem cell: | n/a | n/a |
5 | ATF2 | chr8:132262389-132262714 | GM12878 | blood: | n/a | n/a |
6 | BACH1 | chr8:132493535-132493843 | H1-hESC | embryonic stem cell: | n/a | n/a |
7 | BACH1 | chr8:131996302-131996534 | H1-hESC | embryonic stem cell: | n/a | n/a |
8 | BACH1 | chr8:132445739-132446328 | H1-hESC | embryonic stem cell: | n/a | n/a |
9 | BACH1 | chr8:132054174-132054247 | H1-hESC | embryonic stem cell: | n/a | n/a |
10 | BACH1 | chr8:132200990-132201223 | H1-hESC | embryonic stem cell: | n/a | n/a |
11 | BACH1 | chr8:132060602-132060636 | K562 | blood: | n/a | n/a |
12 | BACH1 | chr8:132361824-132361893 | K562 | blood: | n/a | n/a |
13 | BACH1 | chr8:131997286-131997420 | H1-hESC | embryonic stem cell: | n/a | n/a |
14 | BACH1 | chr8:132044764-132044964 | H1-hESC | embryonic stem cell: | n/a | n/a |
15 | BACH1 | chr8:132041055-132041239 | H1-hESC | embryonic stem cell: | n/a | n/a |
16 | BACH1 | chr8:132490206-132490263 | H1-hESC | embryonic stem cell: | n/a | n/a |
17 | BACH1 | chr8:132493526-132493801 | K562 | blood: | n/a | n/a |
18 | BATF | chr8:132262405-132262881 | GM12878 | blood: | n/a | n/a |
19 | BATF | chr8:132262385-132262656 | GM12878 | blood: | n/a | n/a |
20 | BCL11A | chr8:132404832-132404978 | H1-hESC | embryonic stem cell: | n/a | n/a |
21 | BCL11A | chr8:132262386-132262712 | GM12878 | blood: | n/a | n/a |
22 | BCL11A | chr8:132044725-132044988 | H1-hESC | embryonic stem cell: | n/a | n/a |
23 | BCL11A | chr8:132404788-132404983 | H1-hESC | embryonic stem cell: | n/a | chr8:132404826-132404835 |
24 | BCL3 | chr8:131916815-131917059 | GM12878 | blood: | n/a | n/a |
25 | BHLHE40 | chr8:132291607-132291897 | HepG2 | liver: | n/a | n/a |
26 | BHLHE40 | chr8:132165657-132165768 | GM12878 | blood: | n/a | n/a |
27 | BHLHE40 | chr8:132262465-132262624 | GM12878 | blood: | n/a | n/a |
28 | BRCA1 | chr8:131954145-131954154 | Hela-S3 | cervix: | n/a | n/a |
29 | BRCA1 | chr8:132049092-132049560 | Hela-S3 | cervix: | n/a | n/a |
30 | BRCA1 | chr8:132041031-132041307 | H1-hESC | embryonic stem cell: | n/a | n/a |
31 | CBX3 | chr8:132230266-132231361 | HCT-116 | colon: | n/a | n/a |
32 | CBX3 | chr8:132230630-132231369 | HCT-116 | colon: | n/a | n/a |
33 | CBX3 | chr8:132200727-132201374 | HCT-116 | colon: | n/a | n/a |
34 | CBX3 | chr8:132369426-132370023 | HCT-116 | colon: | n/a | n/a |
35 | CBX3 | chr8:132200657-132201446 | HCT-116 | colon: | n/a | n/a |
36 | CEBPB | chr8:132239808-132240014 | A549 | lung: | n/a | n/a |
37 | CEBPB | chr8:132477575-132477842 | HepG2 | liver: | n/a | chr8:132477754-132477765 |
38 | CEBPB | chr8:132393980-132394331 | MCF-7 | breast: | n/a | n/a |
39 | CEBPB | chr8:132287688-132287964 | A549 | lung: | n/a | chr8:132287801-132287812 |
40 | CEBPB | chr8:132024902-132025192 | A549 | lung: | n/a | chr8:132025058-132025069 |
41 | CEBPB | chr8:132215894-132216274 | HepG2 | liver: | n/a | n/a |
42 | CEBPB | chr8:131989780-131989801 | HepG2 | liver: | n/a | n/a |
43 | CEBPB | chr8:132200751-132201466 | HCT-116 | colon: | n/a | n/a |
44 | CEBPB | chr8:131989757-131990303 | A549 | lung: | n/a | chr8:131990177-131990188 chr8:131989778-131989789 chr8:131989776-131989787 |
45 | CEBPB | chr8:132287668-132287976 | HepG2 | liver: | n/a | chr8:132287801-132287812 |
46 | CEBPB | chr8:132480192-132480486 | A549 | lung: | n/a | chr8:132480341-132480352 chr8:132480223-132480236 |
47 | CEBPB | chr8:132068058-132068391 | HepG2 | liver: | n/a | chr8:132068257-132068268 |
48 | CEBPB | chr8:131918758-131919221 | IMR90 | lung: | n/a | n/a |
49 | CEBPB | chr8:132394919-132395191 | HepG2 | liver: | n/a | n/a |
50 | CEBPB | chr8:132240419-132240581 | H1-hESC | embryonic stem cell: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr8:132329846-132329896 | BE2_C | brain: | n/a |
2 | chr8:132404163-132404213 | HEK293 | kidney: | embryo |
3 | chr8:132052870-132052920 | MCF-7 | breast: | n/a |
4 | chr8:132052942-132052992 | NT2-D1 | testis: | n/a |
5 | chr8:132329846-132329896 | HEK293 | kidney: | embryo |
6 | chr8:131961479-131961529 | GM12878 | blood: | n/a |
7 | chr8:132056802-132056852 | A549 | lung: | n/a |
8 | chr8:131961143-131961193 | PANC-1 | pancreas: | n/a |
9 | chr8:131961479-131961529 | SKMC | muscle: | n/a |
10 | chr8:132053262-132053312 | MCF10A-Er-Src | breast: | n/a |
11 | chr8:132052779-132052829 | GM12892 | blood: | n/a |
12 | chr8:132053823-132053873 | HEK293 | kidney: | embryo |
13 | chr8:132053773-132053823 | A549 | lung: | n/a |
14 | chr8:132052843-132052893 | Caco-2 | colon: | n/a |
15 | chr8:132049389-132049439 | HMEC | breast: | n/a |
16 | chr8:132201183-132201233 | IMR90 | lung: | fetal |
17 | chr8:131914037-131914087 | SKMC | muscle: | n/a |
18 | chr8:131961316-131961366 | HCF | heart: | n/a |
19 | chr8:132052942-132052992 | CMK | blood: | n/a |
20 | chr8:132321917-132321967 | NT2-D1 | testis: | n/a |
21 | chr8:132056802-132056852 | SK-N-MC | brain: | n/a |
22 | chr8:132052702-132052752 | Hela-S3 | cervix: | n/a |
23 | chr8:132313141-132313191 | NHDF-neo | bronchial: | n/a |
24 | chr8:131961143-131961193 | HEEpiC | esophagus: | n/a |
25 | chr8:132052870-132052920 | LNCaP | prostate: | n/a |
26 | chr8:132404163-132404213 | HCF | heart: | n/a |
27 | chr8:132053262-132053312 | HNPCEpiC | eye: | n/a |
28 | chr8:131961143-131961193 | Hela-S3 | cervix: | n/a |
29 | chr8:132201183-132201233 | T-47D | breast: | n/a |
30 | chr8:131974587-131974637 | RPTEC | kidney: | n/a |
31 | chr8:132051228-132051278 | ovcar-3 | ovarian: | n/a |
32 | chr8:132054713-132054763 | HCPEpiC | choroid plexus: | n/a |
33 | chr8:131961479-131961529 | ECC-1 | luminal epithelium: | n/a |
34 | chr8:132051228-132051278 | GM12891 | blood: | n/a |
35 | chr8:132052702-132052752 | HepG2 | liver: | n/a |
36 | chr8:132054713-132054763 | GM12891 | blood: | n/a |
37 | chr8:132052702-132052752 | NHBE | bronchial: | n/a |
38 | chr8:132052870-132052920 | BJ | skin: | n/a |
39 | chr8:131961479-131961529 | Hela-S3 | cervix: | n/a |
40 | chr8:132052942-132052992 | AoSMC | blood vessel: | n/a |
41 | chr8:131914037-131914087 | GM12892 | blood: | n/a |
42 | chr8:132053823-132053873 | NHBE | bronchial: | n/a |
43 | chr8:132055481-132055531 | GM19239 | blood: | n/a |
44 | chr8:132053780-132053830 | CMK | blood: | n/a |
45 | chr8:131914037-131914087 | PFSK-1 | brain: | n/a |
46 | chr8:131961143-131961193 | HIPEpiC | eye: | n/a |
47 | chr8:131914037-131914087 | HRPEpiC | eye: | n/a |
48 | chr8:132052779-132052829 | HCPEpiC | choroid plexus: | n/a |
49 | chr8:131961143-131961193 | ProgFib | skin: | n/a |
50 | chr8:132052942-132052992 | NHBE | bronchial: | n/a |
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr8:132009393..132011188-chr8:132013044..132014770,2 | K562 | blood: | |
2 | chr8:132048919..132049858-chr8:132816258..132817314,6 | MCF-7 | breast: | |
3 | chr8:132373579..132375787-chr8:132380639..132382699,2 | K562 | blood: | |
4 | chr8:132048898..132049548-chr8:133063847..133064406,2 | K562 | blood: | |
5 | chr8:132373579..132375787-chr8:132380639..132382699,2 | K562 | blood: | |
6 | chr8:132012132..132016586-chr8:132017205..132020663,4 | K562 | blood: | |
7 | chr8:132257100..132257721-chr8:132812114..132812872,2 | MCF-7 | breast: | |
8 | chr20:46012590..46013197-chr8:132049013..132049814,2 | MCF-7 | breast: | |
9 | chr8:131932469..131934359-chr8:131936156..131938409,2 | K562 | blood: | |
10 | chr8:132258327..132259215-chr8:132816586..132817090,2 | MCF-7 | breast: | |
11 | chr8:131949123..131951252-chr8:131953355..131955813,2 | K562 | blood: | |
12 | chr8:132060067..132062870-chr8:132063473..132067389,3 | K562 | blood: | |
13 | chr8:132455710..132458500-chr8:132459286..132461089,2 | K562 | blood: | |
14 | chr8:132427028..132428970-chr8:132430109..132432466,2 | MCF-7 | breast: | |
15 | chr8:132340219..132342032-chr8:132342254..132344469,2 | K562 | blood: | |
16 | chr8:132151006..132153588-chr8:132157450..132159845,2 | MCF-7 | breast: | |
17 | chr8:132048669..132049826-chr8:133063830..133064873,3 | MCF-7 | breast: | |
18 | chr8:132049076..132049806-chr8:133063761..133064807,3 | MCF-7 | breast: | |
19 | chr8:132049071..132049842-chr8:132202495..132203099,2 | MCF-7 | breast: | |
20 | chr8:132249911..132252163-chr8:132258560..132261164,2 | K562 | blood: | |
21 | chr8:132257743..132258760-chr8:132816151..132817060,6 | MCF-7 | breast: | |
22 | chr8:132455710..132458500-chr8:132459286..132461089,2 | K562 | blood: | |
23 | chr8:132151006..132153588-chr8:132157450..132159845,2 | MCF-7 | breast: | |
24 | chr8:131897056..131899466-chr8:131918188..131920007,2 | K562 | blood: | |
25 | chr8:132429765..132432393-chr8:132439264..132441024,2 | MCF-7 | breast: | |
26 | chr8:132049071..132049842-chr8:132202495..132203099,2 | MCF-7 | breast: | |
27 | chr8:132009393..132011188-chr8:132013044..132014770,2 | K562 | blood: | |
28 | chr8:132048840..132049867-chr8:132871229..132872874,7 | MCF-7 | breast: | |
29 | chr8:132012132..132016586-chr8:132017205..132020663,4 | K562 | blood: | |
30 | chr8:132340219..132342032-chr8:132342254..132344469,2 | K562 | blood: | |
31 | chr8:131932469..131934359-chr8:131936156..131938409,2 | K562 | blood: | |
32 | chr8:132249911..132252163-chr8:132258560..132261164,2 | K562 | blood: | |
33 | chr8:132055474..132057616-chr8:132060217..132062550,2 | K562 | blood: | |
34 | chr8:132060067..132062870-chr8:132064638..132067389,2 | K562 | blood: | |
35 | chr8:131894119..131894655-chr8:132048879..132049694,3 | MCF-7 | breast: | |
36 | chr8:131949123..131951252-chr8:131953355..131955813,2 | K562 | blood: | |
37 | chr8:132427028..132428970-chr8:132430109..132432466,2 | MCF-7 | breast: | |
38 | chr8:131893656..131894441-chr8:132040407..132041207,2 | MCF-7 | breast: | |
39 | chr8:132424867..132427717-chr8:132500372..132502387,2 | K562 | blood: | |
40 | chr8:131761631..131762444-chr8:132048554..132049484,4 | MCF-7 | breast: | |
41 | chr8:132060067..132062870-chr8:132064638..132067389,2 | K562 | blood: | |
42 | chr8:132429765..132432393-chr8:132439264..132441024,2 | MCF-7 | breast: | |
43 | chr6:137397421..137398328-chr8:132040674..132041613,2 | MCF-7 | breast: | |
44 | chr8:132048704..132049701-chr8:132872992..132873612,3 | MCF-7 | breast: | |
45 | chr8:132452566..132454651-chr8:132455679..132457297,2 | K562 | blood: | |
46 | chr8:132377291..132379585-chr8:133057541..133060013,2 | MCF-7 | breast: | |
47 | chr8:132452566..132454651-chr8:132455679..132457297,2 | K562 | blood: | |
48 | chr8:132055474..132057616-chr8:132060217..132062550,2 | K562 | blood: | |
49 | chr8:132048835..132049652-chr8:132816237..132817113,7 | MCF-7 | breast: | |
50 | chr8:132049131..132049716-chr8:132872945..132873740,2 | MCF-7 | breast: |
(count:38 , 50 per page) page:
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-EFR3A-1 | chr8:132328007-132328130 | ENSG00000253507 |
2 | lnc-ADCY8-1 | chr8:132142635-132142935 | ENSG00000253407 |
3 | lnc-EFR3A-1 | chr8:132329581-132329830 | ENSG00000253507 |
4 | lnc-EFR3A-2 | chr8:132142125-132142145 | NONHSAT129164 |
5 | lnc-EFR3A-8 | chr8:132397226-132397312 | l_3690_chr8:132397225-132399319_76bGuttman_hES |
6 | lnc-EFR3A-1 | chr8:132322800-132323052 | NONHSAT129170 |
7 | lnc-EFR3A-8 | chr8:132398763-132399319 | l_3690_chr8:132397225-132399319_76bGuttman_hES |
8 | lnc-EFR3A-1 | chr8:132329581-132329879 | ENSG00000253507 |
9 | lnc-EFR3A-2 | chr8:132065846-132066028 | XLOC_006928 |
10 | lnc-EFR3A-1 | chr8:132328007-132328130 | ENSG00000253507 |
11 | lnc-EFR3A-2 | chr8:132065845-132066028 | NONHSAT129164 |
12 | lnc-EFR3A-1 | chr8:132329581-132329753 | ENSG00000253507 |
13 | lnc-EFR3A-1 | chr8:132328007-132328130 | ENSG00000253507 |
14 | lnc-EFR3A-3 | chr8:131955551-131955674 | ENSG00000253992.1 |
15 | lnc-EFR3A-1 | chr8:132322719-132322959 | ENSG00000253507 |
16 | lnc-EFR3A-1 | chr8:132320762-132320918 | NONHSAT129170 |
17 | lnc-EFR3A-2 | chr8:132089367-132089479 | NONHSAT129164 |
18 | lnc-EFR3A-1 | chr8:132324803-132324976 | ENSG00000253507 |
19 | lnc-EFR3A-1 | chr8:132324803-132324995 | ENSG00000253507 |
20 | lnc-EFR3A-3 | chr8:131961755-131961911 | ENSG00000253992.1 |
21 | lnc-EFR3A-1 | chr8:132322800-132322959 | ENSG00000253507 |
22 | lnc-ADCY8-1 | chr8:132157081-132157128 | ENSG00000253407 |
23 | lnc-EFR3A-3 | chr8:131947655-131947784 | ENSG00000253992.1 |
24 | lnc-EFR3A-1 | chr8:132322800-132322959 | ENSG00000253507 |
25 | lnc-EFR3A-2 | chr8:132142126-132142145 | XLOC_006928 |
26 | lnc-EFR3A-1 | chr8:132327084-132327225 | NONHSAT129174 |
27 | lnc-EFR3A-1 | chr8:132324624-132325013 | NONHSAT129174 |
28 | lnc-EFR3A-2 | chr8:132065959-132066028 | XLOC_006928 |
29 | lnc-EFR3A-1 | chr8:132329581-132330809 | NONHSAT129174 |
30 | lnc-EFR3A-2 | chr8:132101582-132101711 | XLOC_006928 |
31 | lnc-EFR3A-2 | chr8:132089368-132089479 | XLOC_006928 |
32 | lnc-EFR3A-2 | chr8:132089368-132089479 | XLOC_006928 |
33 | lnc-EFR3A-1 | chr8:132320792-132320918 | ENSG00000253507 |
34 | lnc-EFR3A-2 | chr8:132101581-132101711 | NONHSAT129164 |
35 | lnc-ADCY8-1 | chr8:132143323-132143464 | ENSG00000253407 |
36 | lnc-EFR3A-1 | chr8:132324803-132324995 | ENSG00000253507 |
37 | lnc-EFR3A-1 | chr8:132327256-132328130 | NONHSAT129174 |
38 | lnc-EFR3A-1 | chr8:132320792-132320918 | ENSG00000253507 |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000253259 | TF binding region |
ENSG00000252158 | TF binding region |
ENSG00000253507 | TF binding region |
ADCY8 | TF binding region |
ENSG00000253992 | TF binding region |
ENSG00000253407 | TF binding region |
ENSG00000253259 | CpG island |
ENSG00000252158 | CpG island |
ENSG00000253507 | CpG island |
ADCY8 | CpG island |
ENSG00000253992 | CpG island |
ENSG00000253407 | CpG island |
WASF3 | miRNA target sites |
WASL | miRNA target sites |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs370738314 | chr8:131909923-131909924 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs149986498 | chr8:131909925-131909926 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs201638652 | chr8:131909929-131909930 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs377472522 | chr8:131909931-131909932 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs370796491 | chr8:131909932-131909933 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs72714429 | chr8:131909934-131909935 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs113422793 | chr8:131909935-131909936 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs371123330 | chr8:131909936-131909937 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs375182996 | chr8:131909937-131909938 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs374510107 | chr8:131909941-131909942 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs377620443 | chr8:131909944-131909945 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs370865099 | chr8:131909949-131909950 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs375283053 | chr8:131909952-131909953 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs78517304 | chr8:131909954-131909955 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs368011621 | chr8:131909955-131909956 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs370893486 | chr8:131909958-131909959 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs373713591 | chr8:131909962-131909963 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs140675350 | chr8:131909966-131909967 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs367705371 | chr8:131909967-131909968 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs74705754 | chr8:131909968-131909969 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs138685013 | chr8:131909973-131909974 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs370616119 | chr8:131909977-131909978 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs372099270 | chr8:131909978-131909979 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs375460642 | chr8:131909980-131909981 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs371952425 | chr8:131909985-131909986 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs376595859 | chr8:131909986-131909987 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs373780874 | chr8:131909989-131909990 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs373748069 | chr8:131909995-131909996 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs367583553 | chr8:131909999-131910000 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs143636404 | chr8:131910002-131910003 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs372323543 | chr8:131910003-131910004 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs376414297 | chr8:131910004-131910005 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs374485577 | chr8:131910012-131910013 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs368860443 | chr8:131910016-131910017 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs117510739 | chr8:131910017-131910018 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs117880670 | chr8:131910020-131910021 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs368460935 | chr8:131910028-131910029 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs371962613 | chr8:131910031-131910032 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs374360454 | chr8:131910032-131910033 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs373839608 | chr8:131910034-131910035 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs376328239 | chr8:131910042-131910043 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs376904030 | chr8:131910046-131910047 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs369301356 | chr8:131910055-131910056 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs372005703 | chr8:131910059-131910060 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs575325581 | chr8:131910070-131910071 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs367841123 | chr8:131910105-131910106 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs201746078 | chr8:131910107-131910108 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs200089374 | chr8:131910112-131910113 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs572946279 | chr8:131910118-131910119 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs540457255 | chr8:131910130-131910131 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Medulloblastoma | 21979893 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Autism | 19415332 | CNVD |
Malaria | 21533027 | CNVD |
Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
Esophageal cancer | 21851588 | CNVD |
Gastric cancer | 17908304 | CNVD |
Acute promyelocytic leukemia | 19109227 | CNVD |
Breast cancer | 21245420 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Liver carcinoma | 19366792 | CNVD |
Seminomas | 18059402 | CNVD |
Acute lymphoblastic leukemia | 21390130 | CNVD |
Pancreatic cancer | 21811587 | CNVD |
Thyroid cancer | 19087340 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Testicular cancer | 18059402 | CNVD |
Breast cancer | 17133270 | CNVD |
Breast cancer | 21509527 | CNVD |
Breast cancer | 21858162 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Acute lymphoblastic leukemia | 21248843 | CNVD |
abnormal development | 18461090 | CNVD |
Oral cancer | 21386901 | CNVD |
Uveal melanoma | 21693616 | CNVD |
Langer-Giedion syndrome | 22283845 | CNVD |
Cancer | 21637783 | CNVD |
Splenic marginal zone lymphoma | 21957467 | CNVD |
Breast cancer | 20632083 | CNVD |
Breast cancer | 17603634 | CNVD |
Breast cancer | 19602461 | CNVD |
Cancer | 22429812 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Oral cancer | 19627613 | CNVD |
Prostate cancer | 21088497 | CNVD |
colon cancer | 17210682 | CNVD |
Breast cancer | 21264507 | CNVD |
Breast cancer | 22028636 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Cancer | 16751803 | CNVD |
Esophageal squamous carcinoma | 18350619 | CNVD |
Gastric cancer | 17167181 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Breast cancer | 16461572 | CNVD |
Human rectal carcinomas | 16397240 | CNVD |
Medulloblastoma | 16968546 | CNVD |
head and neck squamous cell carcinoma | 18028549 | CNVD |
Breast cancer | 17001317 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Lung cancer | 18438408 | CNVD |
Breast cancer | 16608533 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Hepatocellular carcinoma | 18803288 | CNVD |
Prostate cancer | 18632612 | CNVD |
Ovarian cancer | 22174824 | CNVD |
Prostate cancer | 16573809 | CNVD |
Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
Adenocarcinoma | 21044232 | CNVD |
Squamous cell cancer | 20885788 | CNVD |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
Prostate cancer | 16461572 | CNVD |
Breast cancer | 21399628 | CNVD |
High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
Acute lymphoblastic leukemia | 17690704 | CNVD |
Breast cancer | 17393978 | CNVD |
Burkitt''s lymphoma | 18698080 | CNVD |
Non-syndromic sensorineural hearing loss | 20606397 | CNVD |
Breast cancer | 17899364 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Developmental delay | 21147756 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Congenital diaphragmatic hernia | 21525063 | CNVD |
Non-small cell lung cancer | 19010865 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Papillary thyroid cancer | 17515504 | CNVD |
Basal cell lymphoma | 17053054 | CNVD |
Gastric cancer | 21528007 | CNVD |
Breast cancer | 22532251 | CNVD |
Cervical cancer | 21062161 | CNVD |
Cancer | 21129771 | CNVD |
benign familial neonatal convulsions | 18472482 | CNVD |
Breast cancer | 16417655 | CNVD |
Astrocytoma | 17387387 | CNVD |
Cancer | 21183584 | CNVD |
Follicular lymphoma | 20505157 | CNVD |
T-cell lymphomas | 19863542 | CNVD |
Colorectal cancer | 20709793 | CNVD |
Medulloblastoma | 20607354 | CNVD |
Breast cancer | 20814816 | CNVD |
Colorectal cancer | 22486879 | CNVD |
Breast cancer | 17908964 | CNVD |
Colorectal cancer | 20031965 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Ovarian cancer | 17908964 | CNVD |
Ovarian cancer | 20031965 | CNVD |
Prostate cancer | 20031965 | CNVD |
Non-small cell lung cancer | 17643093 | CNVD |
Prostate cancer | 19242612 | CNVD |
Colorectal cancer | 16774939 | CNVD |
Malignant melanoma | 17260012 | CNVD |
Esophageal squamous carcinoma | 18405350 | CNVD |
Chronic lymphocytic leukemia | 20421269 | CNVD |
low-grade B-cell lymphoma tumor | 18367492 | CNVD |
Sezary syndrome | 18413736 | CNVD |
Chordoma | 18071362 | CNVD |
Breast cancer | 17850661 | CNVD |
head and neck squamous cell carcinoma | 16740747 | CNVD |
Gastric cancer | 22539939 | CNVD |
Breast cancer | 16272173 | CNVD |
Uveal melanoma | 20484589 | CNVD |
Ovarian cancer | 20844748 | CNVD |
Multiple myeloma | 16616336 | CNVD |
Acute lymphoblastic leukemia | 21098271 | CNVD |
Acute lymphoblastic leukemia | 18458336 | CNVD |
Breast cancer | 21364760 | CNVD |
Breast cancer | 21611746 | CNVD |
Esophageal adenocarcinoma | 18519675 | CNVD |
Gastrointestinal stromal cancer | 20818650 | CNVD |
Colorectal cancer | 21645411 | CNVD |
Glioblastoma multiforme | 22286061 | CNVD |
Gastric cancer | 16891809 | CNVD |
Colorectal cancer | 19455253 | CNVD |
Pregnancies with abnormal ultrasound findings | 21110858 | CNVD |
Breast cancer | 19181860 | CNVD |
Brain cancer | 19584924 | CNVD |
Medulloblastoma | 19584924 | CNVD |
Follicular lymphoma | 17699855 | CNVD |
Acute lymphoblastic leukemia | 21339820 | CNVD |
Prostate cancer | 22341455 | CNVD |
Cancer | 20164919 | CNVD |
T-cell lymphomas | 22341440 | CNVD |
Breast cancer | 22522925 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Non-syndromic sensorineural hearing loss | 19587683 | CNVD |
Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
Renal cell carcinoma | 21215367 | CNVD |
Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr8:131895800-131914600 | Weak transcription | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
2 | chr8:131911200-131911400 | Enhancers | HSMM | muscle |
3 | chr8:131912200-131915200 | Weak transcription | HSMM | muscle |
4 | chr8:131912400-131912600 | Bivalent Enhancer | Esophagus | oesophagus |
5 | chr8:131912400-131917400 | Weak transcription | Brain Inferior Temporal Lobe | brain |
6 | chr8:131913600-131913800 | Enhancers | IMR90 fetal lung fibroblasts Cell Line | lung |
7 | chr8:131913600-131913800 | Enhancers | Foreskin Fibroblast Primary Cells skin02 | Skin |
8 | chr8:131913600-131914200 | Enhancers | H9 Cell Line | embryonic stem cell |
9 | chr8:131913600-131914800 | Enhancers | H1 Cell Line | embryonic stem cell |
10 | chr8:131913600-131914800 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
11 | chr8:131913600-131920800 | Enhancers | NHDF-Ad | bronchial |
12 | chr8:131913800-131914000 | Enhancers | Foreskin Fibroblast Primary Cells skin01 | Skin |
13 | chr8:131913800-131914600 | Weak transcription | IMR90 fetal lung fibroblasts Cell Line | lung |
14 | chr8:131913800-131914600 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
15 | chr8:131913800-131915200 | Weak transcription | Foreskin Fibroblast Primary Cells skin02 | Skin |
16 | chr8:131914000-131915400 | Weak transcription | Foreskin Fibroblast Primary Cells skin01 | Skin |
17 | chr8:131914200-131914400 | Enhancers | HUES48 Cell Line | embryonic stem cell |
18 | chr8:131914200-131915800 | Weak transcription | H9 Cell Line | embryonic stem cell |
19 | chr8:131914200-131915800 | Enhancers | HUVEC | blood vessel |
20 | chr8:131914200-131916600 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
21 | chr8:131914400-131914800 | Enhancers | NHEK | skin |
22 | chr8:131914400-131917600 | Enhancers | hESC Derived CD56+ Mesoderm Cultured Cells | ES cell derived |
23 | chr8:131914400-131920600 | Enhancers | Foreskin Keratinocyte Primary Cells skin02 | Skin |
24 | chr8:131914600-131914800 | Enhancers | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
25 | chr8:131914600-131915000 | Enhancers | IMR90 fetal lung fibroblasts Cell Line | lung |
26 | chr8:131914600-131915800 | Enhancers | HSMMtube | muscle |
27 | chr8:131914800-131915200 | Weak transcription | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
28 | chr8:131914800-131915200 | Weak transcription | NHEK | skin |
29 | chr8:131914800-131916000 | Weak transcription | iPS-20b Cell Line | embryonic stem cell |
30 | chr8:131914800-131916200 | Weak transcription | H1 Cell Line | embryonic stem cell |
31 | chr8:131915000-131915200 | Weak transcription | IMR90 fetal lung fibroblasts Cell Line | lung |
32 | chr8:131915000-131916000 | Weak transcription | HUES48 Cell Line | embryonic stem cell |
33 | chr8:131915200-131915400 | Enhancers | Breast Myoepithelial Primary Cells | Breast |
34 | chr8:131915200-131916200 | Enhancers | NHEK | skin |
35 | chr8:131915200-131917200 | Enhancers | Muscle Satellite Cultured Cells | -- |
36 | chr8:131915200-131917800 | Enhancers | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
37 | chr8:131915200-131918000 | Enhancers | Foreskin Fibroblast Primary Cells skin02 | Skin |
38 | chr8:131915200-131918400 | Enhancers | IMR90 fetal lung fibroblasts Cell Line | lung |
39 | chr8:131915200-131919800 | Enhancers | NHLF | lung |
40 | chr8:131915200-131920400 | Enhancers | HMEC | breast |
41 | chr8:131915200-131920400 | Enhancers | HSMM | muscle |
42 | chr8:131915200-131921200 | Enhancers | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
43 | chr8:131915400-131915800 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
44 | chr8:131915400-131917800 | Enhancers | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
45 | chr8:131915400-131920200 | Enhancers | Osteobl | bone |
46 | chr8:131915400-131920600 | Enhancers | Foreskin Fibroblast Primary Cells skin01 | Skin |
47 | chr8:131915600-131916400 | Enhancers | Fetal Heart | heart |
48 | chr8:131915600-131917600 | Enhancers | Fetal Adrenal Gland | Adrenal Gland |
49 | chr8:131915800-131916200 | Enhancers | H9 Cell Line | embryonic stem cell |
50 | chr8:131915800-131916200 | Flanking Active TSS | HUVEC | blood vessel |