Variant report
Variant | nsv915585 |
---|---|
Chromosome Location | chr5:12336874-12849583 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:1625)
- CpG islands (count:1164)
- Chromatin interactive region (count:123)
- LncRNA region (count:30)
- 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 | chr5:12772446-12772684 | K562 | blood: | n/a | n/a |
2 | ARID3A | chr5:12587530-12587610 | K562 | blood: | n/a | n/a |
3 | ARID3A | chr5:12645737-12645937 | K562 | blood: | n/a | n/a |
4 | ARID3A | chr5:12573954-12574062 | K562 | blood: | n/a | n/a |
5 | ARID3A | chr5:12845071-12845075 | K562 | blood: | n/a | n/a |
6 | ARID3A | chr5:12605684-12605760 | HepG2 | liver: | n/a | n/a |
7 | ARID3A | chr5:12611278-12611564 | K562 | blood: | n/a | n/a |
8 | ARID3A | chr5:12625817-12626175 | K562 | blood: | n/a | n/a |
9 | ARID3A | chr5:12615141-12616053 | K562 | blood: | n/a | n/a |
10 | ARID3A | chr5:12629284-12629314 | K562 | blood: | n/a | n/a |
11 | ATF1 | chr5:12625855-12626127 | K562 | blood: | n/a | n/a |
12 | ATF1 | chr5:12636538-12636665 | K562 | blood: | n/a | n/a |
13 | ATF1 | chr5:12611394-12611564 | K562 | blood: | n/a | n/a |
14 | ATF1 | chr5:12772433-12772741 | K562 | blood: | n/a | n/a |
15 | ATF1 | chr5:12777500-12777758 | K562 | blood: | n/a | n/a |
16 | ATF1 | chr5:12599710-12599720 | K562 | blood: | n/a | n/a |
17 | ATF1 | chr5:12406373-12406469 | K562 | blood: | n/a | n/a |
18 | ATF1 | chr5:12612014-12612205 | K562 | blood: | n/a | n/a |
19 | ATF1 | chr5:12434123-12434173 | K562 | blood: | n/a | n/a |
20 | ATF1 | chr5:12615012-12615715 | K562 | blood: | n/a | n/a |
21 | ATF2 | chr5:12662664-12663813 | H1-hESC | embryonic stem cell: | n/a | n/a |
22 | ATF2 | chr5:12668042-12668298 | H1-hESC | embryonic stem cell: | n/a | n/a |
23 | ATF2 | chr5:12662712-12663504 | H1-hESC | embryonic stem cell: | n/a | n/a |
24 | ATF2 | chr5:12660692-12662536 | H1-hESC | embryonic stem cell: | n/a | n/a |
25 | ATF2 | chr5:12667909-12668201 | H1-hESC | embryonic stem cell: | n/a | n/a |
26 | ATF2 | chr5:12648499-12649011 | H1-hESC | embryonic stem cell: | n/a | n/a |
27 | ATF2 | chr5:12657998-12658420 | H1-hESC | embryonic stem cell: | n/a | n/a |
28 | ATF2 | chr5:12623287-12624095 | H1-hESC | embryonic stem cell: | n/a | n/a |
29 | ATF2 | chr5:12658521-12660660 | H1-hESC | embryonic stem cell: | n/a | n/a |
30 | ATF3 | chr5:12772414-12772810 | K562 | blood: | n/a | n/a |
31 | ATF3 | chr5:12772509-12772655 | K562 | blood: | n/a | n/a |
32 | BACH1 | chr5:12615423-12615929 | K562 | blood: | n/a | n/a |
33 | BACH1 | chr5:12627636-12627648 | K562 | blood: | n/a | n/a |
34 | BACH1 | chr5:12627924-12628106 | K562 | blood: | n/a | n/a |
35 | BACH1 | chr5:12772460-12772773 | K562 | blood: | n/a | n/a |
36 | BATF | chr5:12791862-12792048 | GM12878 | blood: | n/a | n/a |
37 | BCL11A | chr5:12505213-12505415 | H1-hESC | embryonic stem cell: | n/a | n/a |
38 | BCLAF1 | chr5:12615205-12615584 | K562 | blood: | n/a | n/a |
39 | BHLHE40 | chr5:12772578-12772678 | K562 | blood: | n/a | n/a |
40 | BHLHE40 | chr5:12614798-12616107 | K562 | blood: | n/a | n/a |
41 | BHLHE40 | chr5:12616429-12616837 | K562 | blood: | n/a | n/a |
42 | BHLHE40 | chr5:12574678-12575143 | K562 | blood: | n/a | n/a |
43 | CBX3 | chr5:12615155-12615822 | K562 | blood: | n/a | n/a |
44 | CBX3 | chr5:12772417-12772891 | K562 | blood: | n/a | n/a |
45 | CBX3 | chr5:12574582-12575256 | K562 | blood: | n/a | n/a |
46 | CBX3 | chr5:12578931-12579331 | K562 | blood: | n/a | n/a |
47 | CBX3 | chr5:12662769-12663016 | K562 | blood: | n/a | n/a |
48 | CCNT2 | chr5:12574035-12574280 | K562 | blood: | n/a | n/a |
49 | CCNT2 | chr5:12808646-12808850 | K562 | blood: | n/a | n/a |
50 | CCNT2 | chr5:12574667-12575084 | K562 | blood: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr5:12795646-12795696 | HIPEpiC | eye: | n/a |
2 | chr5:12355075-12355125 | RPTEC | kidney: | n/a |
3 | chr5:12615428-12615478 | GM19239 | blood: | n/a |
4 | chr5:12661875-12661925 | K562 | blood: | n/a |
5 | chr5:12661875-12661925 | GM12878 | blood: | n/a |
6 | chr5:12795646-12795696 | HIPEpiC | eye: | n/a |
7 | chr5:12355075-12355125 | RPTEC | kidney: | n/a |
8 | chr5:12615428-12615478 | GM19239 | blood: | n/a |
9 | chr5:12661875-12661925 | K562 | blood: | n/a |
10 | chr5:12661875-12661925 | GM12878 | blood: | n/a |
11 | chr5:12669584-12669634 | HCM | heart: | n/a |
12 | chr5:12636281-12636331 | K562 | blood: | n/a |
13 | chr5:12414368-12414418 | Jurkat | blood: | n/a |
14 | chr5:12794310-12794360 | HCM | heart: | n/a |
15 | chr5:12636281-12636331 | A549 | lung: | n/a |
16 | chr5:12574872-12574922 | MCF10A-Er-Src | breast: | n/a |
17 | chr5:12663018-12663068 | HepG2 | liver: | n/a |
18 | chr5:12795646-12795696 | AG09309 | skin: | n/a |
19 | chr5:12665869-12665919 | Hepatocyte | liver: | n/a |
20 | chr5:12795646-12795696 | HCM | heart: | n/a |
21 | chr5:12669584-12669634 | HepG2 | liver: | n/a |
22 | chr5:12794800-12794850 | HCM | heart: | n/a |
23 | chr5:12414368-12414418 | NT2-D1 | testis: | n/a |
24 | chr5:12794800-12794850 | NH-A | brain: | n/a |
25 | chr5:12795705-12795755 | HAEpiC | amniotic membrane: | n/a |
26 | chr5:12795705-12795755 | NT2-D1 | testis: | n/a |
27 | chr5:12663018-12663068 | HAEpiC | amniotic membrane: | n/a |
28 | chr5:12355075-12355125 | LNCaP | prostate: | n/a |
29 | chr5:12795410-12795460 | NHDF-neo | bronchial: | n/a |
30 | chr5:12791029-12791079 | ECC-1 | luminal epithelium: | n/a |
31 | chr5:12661875-12661925 | A549 | lung: | n/a |
32 | chr5:12414368-12414418 | HMEC | breast: | n/a |
33 | chr5:12623177-12623227 | HCM | heart: | n/a |
34 | chr5:12574688-12574738 | HPAEpiC | pulmonary alveolar: | n/a |
35 | chr5:12660863-12660913 | AG09319 | gingival: | n/a |
36 | chr5:12623177-12623227 | AG09309 | skin: | n/a |
37 | chr5:12660863-12660913 | GM12892 | blood: | n/a |
38 | chr5:12669584-12669634 | SK-N-SH_RA | brain: | n/a |
39 | chr5:12636281-12636331 | HRE | kidney: | n/a |
40 | chr5:12795646-12795696 | NHBE | bronchial: | n/a |
41 | chr5:12795705-12795755 | PrEC | prostate: | n/a |
42 | chr5:12669584-12669634 | AG09309 | skin: | n/a |
43 | chr5:12574688-12574738 | HRE | kidney: | n/a |
44 | chr5:12660863-12660913 | ECC-1 | luminal epithelium: | n/a |
45 | chr5:12794800-12794850 | H1-hESC | embryonic stem cell: | embryo |
46 | chr5:12665869-12665919 | MCF-7 | breast: | n/a |
47 | chr5:12660863-12660913 | AoSMC | blood vessel: | n/a |
48 | chr5:12574872-12574922 | SK-N-SH_RA | brain: | n/a |
49 | chr5:12663018-12663068 | ovcar-3 | ovarian: | n/a |
50 | chr5:12574872-12574922 | Caco-2 | colon: | n/a |
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr5:12778478..12781516-chr5:12781802..12783481,3 | K562 | blood: | |
2 | chr5:12554220..12555829-chr5:12556078..12558191,2 | MCF-7 | breast: | |
3 | chr5:12581974..12583485-chr5:12585485..12587761,2 | K562 | blood: | |
4 | chr5:12589520..12591629-chr5:12614668..12616853,2 | K562 | blood: | |
5 | chr5:12572185..12574233-chr5:12590584..12592577,2 | K562 | blood: | |
6 | chr5:12608674..12611130-chr5:12636501..12638880,2 | K562 | blood: | |
7 | chr5:12579463..12582015-chr5:12766907..12769227,3 | K562 | blood: | |
8 | chr5:12569399..12571855-chr5:12571987..12574855,2 | K562 | blood: | |
9 | chr5:12652370..12654399-chr5:12657778..12661483,4 | K562 | blood: | |
10 | chr5:12557146..12558747-chr5:12560771..12562482,2 | K562 | blood: | |
11 | chr5:12577735..12580318-chr5:12581576..12583762,3 | K562 | blood: | |
12 | chr5:12815455..12818211-chr5:12818393..12820982,3 | MCF-7 | breast: | |
13 | chr1:153295251..153295999-chr5:12761269..12762010,2 | MCF-7 | breast: | |
14 | chr5:12588869..12590687-chr5:12605878..12607397,2 | K562 | blood: | |
15 | chr5:12743681..12745562-chr5:12760278..12762840,2 | K562 | blood: | |
16 | chr5:12702448..12704226-chr5:12718051..12720709,2 | K562 | blood: | |
17 | chr5:12576814..12579689-chr5:12594654..12596559,2 | K562 | blood: | |
18 | chr5:12387214..12389334-chr5:12391779..12393632,2 | K562 | blood: | |
19 | chr5:12654971..12655664-chr8:60884734..60885526,2 | MCF-7 | breast: | |
20 | chr5:12660866..12661403-chr5:12804029..12804604,2 | MCF-7 | breast: | |
21 | chr5:12542323..12544151-chr5:12547320..12550095,2 | K562 | blood: | |
22 | chr5:12815455..12818211-chr5:12818393..12820982,3 | MCF-7 | breast: | |
23 | chr5:12653349..12655490-chr5:12663314..12666064,2 | K562 | blood: | |
24 | chr5:12779777..12782009-chr5:12783141..12784661,2 | MCF-7 | breast: | |
25 | chr5:12652370..12654399-chr5:12657778..12661483,4 | K562 | blood: | |
26 | chr5:12588618..12591381-chr5:12596169..12597807,2 | K562 | blood: | |
27 | chr5:12546310..12548435-chr5:12549138..12551097,2 | K562 | blood: | |
28 | chr5:12839224..12841254-chr5:12844518..12846832,2 | MCF-7 | breast: | |
29 | chr5:12647069..12649041-chr5:12653810..12656965,3 | K562 | blood: | |
30 | chr5:12566855..12569678-chr5:12570834..12573967,4 | MCF-7 | breast: | |
31 | chr5:12579405..12581985-chr5:12616959..12619800,2 | K562 | blood: | |
32 | chr5:12757621..12760058-chr5:12760754..12763671,2 | K562 | blood: | |
33 | chr5:12579389..12581538-chr5:12592252..12594102,2 | K562 | blood: | |
34 | chr5:12810723..12813220-chr5:12814346..12816159,2 | MCF-7 | breast: | |
35 | chr5:12612602..12617488-chr5:12617661..12622972,6 | K562 | blood: | |
36 | chr5:12760900..12763053-chr5:12763056..12765696,2 | K562 | blood: | |
37 | chr5:12696352..12698473-chr5:12701723..12704711,2 | MCF-7 | breast: | |
38 | chr5:12780362..12783052-chr5:12785644..12787505,2 | K562 | blood: | |
39 | chr5:12588869..12590687-chr5:12605878..12607397,2 | K562 | blood: | |
40 | chr5:12794344..12796084-chr5:12809073..12810960,2 | MCF-7 | breast: | |
41 | chr5:12637921..12640108-chr5:12640320..12642573,2 | K562 | blood: | |
42 | chr2:127182543..127183530-chr5:12689783..12690762,2 | MCF-7 | breast: | |
43 | chr5:12571887..12574871-chr5:12612831..12615771,3 | K562 | blood: | |
44 | chr5:12387214..12389334-chr5:12391779..12393632,2 | K562 | blood: | |
45 | chr5:12660866..12661403-chr5:12804029..12804604,2 | MCF-7 | breast: | |
46 | chr5:12753835..12756890-chr5:12758646..12760837,3 | K562 | blood: | |
47 | chr5:12718842..12720474-chr5:12721962..12723532,2 | K562 | blood: | |
48 | chr5:12579389..12581538-chr5:12592252..12594102,2 | K562 | blood: | |
49 | chr5:12614374..12617488-chr5:12617619..12619777,3 | K562 | blood: | |
50 | chr5:12810723..12813220-chr5:12814346..12816159,2 | MCF-7 | breast: |
(count:30 , 50 per page) page:
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-TRIO-4 | chr5:12805052-12805295 | NONHSAT100511 |
2 | lnc-TRIO-4 | chr5:12574969-12575164 | NONHSAT100514 |
3 | lnc-TRIO-4 | chr5:12595809-12595890 | ENSG00000248131 |
4 | lnc-TRIO-4 | chr5:12574969-12575164 | ENSG00000248131 |
5 | lnc-TRIO-4 | chr5:12595809-12595890 | ENSG00000248131 |
6 | lnc-CTNND2-3 | chr5:12653170-12654688 | NONHSAT100517 |
7 | lnc-TRIO-4 | chr5:12805052-12805295 | NONHSAT100514 |
8 | lnc-TRIO-4 | chr5:12595809-12595890 | ENSG00000248131 |
9 | lnc-TRIO-4 | chr5:12654759-12655799 | ENSG00000248131 |
10 | lnc-TRIO-4 | chr5:12574969-12575164 | ENSG00000248131 |
11 | lnc-CTNND2-3 | chr5:12737810-12737969 | NONHSAT100517 |
12 | lnc-CTNND2-3 | chr5:12657511-12658227 | NONHSAT100517 |
13 | lnc-TRIO-4 | chr5:12595809-12595890 | NONHSAT100514 |
14 | lnc-TRIO-8 | chr5:12794843-12795634 | NONHSAT100519 |
15 | lnc-CTNND2-3 | chr5:12663441-12664022 | NONHSAT100517 |
16 | lnc-TRIO-9 | chr5:12707759-12708641 | l_2878_chr5:12648870-12708792_testes |
17 | lnc-CTNND2-3 | chr5:12723669-12723939 | NONHSAT100517 |
18 | lnc-TRIO-4 | chr5:12711310-12711411 | NONHSAT100511 |
19 | lnc-TRIO-4 | chr5:12574969-12575164 | NONHSAT100511 |
20 | lnc-TRIO-9 | chr5:12708650-12708792 | l_2878_chr5:12648870-12708792_testes |
21 | lnc-TRIO-4 | chr5:12759471-12759760 | ENSG00000248131 |
22 | lnc-TRIO-4 | chr5:12574969-12575164 | ENSG00000248131 |
23 | lnc-TRIO-4 | chr5:12711310-12711411 | ENSG00000248131 |
24 | lnc-DNAH5-2 | chr5:12837290-12837367 | XLOC_004737 |
25 | lnc-CTNND2-3 | chr5:12659546-12660157 | NONHSAT100517 |
26 | lnc-TRIO-4 | chr5:12711310-12711411 | ENSG00000248131 |
27 | lnc-CTNND2-4 | chr5:12794212-12794843 | NONHSAT100518 |
28 | lnc-TRIO-4 | chr5:12711310-12711411 | NONHSAT100514 |
29 | lnc-TRIO-4 | chr5:12804316-12804475 | ENSG00000248131 |
30 | lnc-TRIO-9 | chr5:12648871-12648890 | l_2878_chr5:12648870-12708792_testes |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000248783 | TF binding region |
CT49 | TF binding region |
ENSG00000264921 | TF binding region |
ENSG00000251112 | TF binding region |
ENSG00000249053 | TF binding region |
ENSG00000248783 | CpG island |
CT49 | CpG island |
ENSG00000264921 | CpG island |
ENSG00000251112 | CpG island |
ENSG00000249053 | CpG island |
ENSG00000249053 | chromatin interactions |
ENSG00000099194 | chromatin interactions |
ENSG00000248131 | chromatin interactions |
ENSG00000231188 | chromatin interactions |
ENSG00000248783 | chromatin interactions |
ARHGEF7 | miRNA target sites |
CITED2 | miRNA target sites |
ABL2 | miRNA target sites |
NIN | miRNA target sites |
ANKIB1 | miRNA target sites |
MLL2 | miRNA target sites |
FAM171A1 | miRNA target sites |
PURA | miRNA target sites |
BMPR2 | miRNA target sites |
PSMD7 | miRNA target sites |
TRIM44 | miRNA target sites |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs397881547 | chr5:12336877-12336878 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs552255071 | chr5:12336890-12336891 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs540031424 | chr5:12336914-12336915 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs540473141 | chr5:12336927-12336928 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs565130220 | chr5:12336948-12336949 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs532529324 | chr5:12336974-12336975 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs17789413 | chr5:12337137-12337138 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs1006242 | chr5:12337145-12337146 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
9 | rs534742194 | chr5:12337162-12337163 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs563209789 | chr5:12337177-12337178 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs553421273 | chr5:12337186-12337187 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs187368056 | chr5:12337196-12337197 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs10044869 | chr5:12337292-12337293 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs567578985 | chr5:12337293-12337294 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs528390786 | chr5:12337299-12337300 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs546856273 | chr5:12337402-12337403 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs191908633 | chr5:12337426-12337427 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs564774118 | chr5:12337461-12337462 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs141839886 | chr5:12337466-12337467 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs4701937 | chr5:12337573-12337574 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
21 | rs79729437 | chr5:12337614-12337615 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs575159448 | chr5:12337658-12337659 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs144648995 | chr5:12337673-12337674 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs554665589 | chr5:12337682-12337683 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs573524157 | chr5:12337701-12337702 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs534233177 | chr5:12337744-12337745 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs140062024 | chr5:12337766-12337767 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs116742172 | chr5:12337777-12337778 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs577046305 | chr5:12337809-12337810 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs114587186 | chr5:12337842-12337843 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs375652733 | chr5:12337849-12337850 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs6872012 | chr5:12337850-12337851 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
33 | rs139693462 | chr5:12337899-12337900 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs575227847 | chr5:12337902-12337903 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs542654352 | chr5:12338012-12338013 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs560711477 | chr5:12338103-12338104 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs184124962 | chr5:12338150-12338151 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs546917567 | chr5:12338161-12338162 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs6891532 | chr5:12338203-12338204 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
40 | rs148482369 | chr5:12338220-12338221 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs142488260 | chr5:12338237-12338238 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs569383642 | chr5:12338265-12338266 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs150935415 | chr5:12338333-12338334 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs140370822 | chr5:12338352-12338353 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs566531473 | chr5:12338379-12338380 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs16902154 | chr5:12338410-12338411 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs533906058 | chr5:12338420-12338421 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs532255512 | chr5:12338430-12338431 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs541473969 | chr5:12338439-12338440 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs144336211 | chr5:12338451-12338452 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Cervical squamous cell carcinoma | 21590768 | CNVD |
abnormal development | 18461090 | CNVD |
Lung cancer | 19547694 | CNVD |
Cri-du chat syndrome | 22283845 | CNVD |
Disorders of sex development | 21048976 | CNVD |
Non-small cell lung cancer | 20864512 | CNVD |
Cancer | 21183584 | CNVD |
Honadal dysgenesis | 21048976 | CNVD |
Cancer | 16751803 | CNVD |
Breast cancer | 17133270 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Salivary gland tumor | 18059337 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Kartagener syndrome | 16639409 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Myofibroblastic sarcoma | 19369631 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Medulloblastoma | 16783165 | CNVD |
Thyroid cancer | 19087340 | CNVD |
Liposarcoma | 21253554 | CNVD |
Pancreatic endocrine tumor | 17639061 | CNVD |
Cervical Cancer | 21857958 | CNVD |
Cervical cancer | 21062161 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Oral cancer | 21386901 | CNVD |
Astrocytoma | 17387387 | CNVD |
Breast cancer | 21264507 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Esophageal squamous carcinoma | 18350619 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Malignant mesothelioma | 18160781 | CNVD |
Pleural malignant mesothelioma | 18160781 | CNVD |
Cervical cancer | 18559093 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Acute lymphoblastic leukemia | 17690704 | CNVD |
Gastrointestinal stromal cancer | 16982739 | CNVD |
Phyllodes tumor | 17334353 | CNVD |
Malaria | 21533027 | CNVD |
Renal cell carcinoma | 19461508 | CNVD |
Colorectal cancer | 21645411 | CNVD |
Gastric cancer | 22152101 | CNVD |
Oesophago-gastric ulcer | 22152101 | CNVD |
Ovarian cancer | 21781307 | CNVD |
Breast cancer | 20668451 | CNVD |
Cancer | 20668451 | CNVD |
Lung cancer | 20668451 | CNVD |
Ovarian cancer | 20668451 | CNVD |
Pancreas cancer | 20668451 | CNVD |
Prostate cancer | 20668451 | CNVD |
Cancer | 20164919 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Multiple myeloma | 17550852 | CNVD |
prenatal diagnosis | 22389664 | CNVD |
Bladder cancer | 21909424 | CNVD |
DNA damage stimulus | 22844521 | CNVD |
DNA repair | 22844521 | CNVD |
Breast cancer | 21785460 | CNVD |
Spinal muscular atrophy | 22422766 | CNVD |
Spinal muscular atrophy | 22558076 | CNVD |
Spinal muscular atrophy | 21320981 | CNVD |
Spinal muscular atrophy | 21762474 | CNVD |
Breast cancer | 21858162 | CNVD |
Prostate cancer | 18632612 | CNVD |
Esophageal adenocarcinoma | 19417022 | CNVD |
Breast cancer | 21364760 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Lung cancer | 18438408 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Autism | 22495311 | CNVD |
Gastrointestinal stromal cancer | 20818650 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Breast cancer | 16608533 | CNVD |
Anaplastic large cell lymphoma | 18179710 | CNVD |
Ovarian clear cell carcinoma | 19293255 | CNVD |
Melanoma | 18172304 | CNVD |
Non-syndromic sensorineural hearing loss | 20606397 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Intellectual disability | 22102821 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Cri-du chat syndrome | 16773131 | CNVD |
Cryptorchidism | 21048976 | CNVD |
Glioblastoma multiforme | 22286061 | CNVD |
Cervical cancer | 16585170 | CNVD |
Mental retardation | 16773131 | CNVD |
Non-small cell lung cancer | 21829676 | CNVD |
Cri-du chat syndrome | 22470819 | CNVD |
sporadic birth defects | 19047251 | CNVD |
Non-small cell lung cancer | 17643093 | CNVD |
Renal cell carcinoma | 18765545 | CNVD |
Schizophrenia | 18940311 | CNVD |
Central neurocytomas | 17123091 | CNVD |
Mental retardation | 17847001 | CNVD |
Neurocytoma | 17123091 | CNVD |
Mental retardation | 19546859 | CNVD |
Pleomorphic liposarcoma | 18784837 | CNVD |
Williams Syndrome | 20824207 | CNVD |
Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
Bipolar disorder | 19114987 | CNVD |
Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
Glioma | 20126413 | CNVD |
Schizophrenia | 21346763 | CNVD |
Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
Stenocardia | 21860640 | CNVD |
Vasospasm | 21860640 | CNVD |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
Ovarian clear cell carcinoma | 21343371 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr5:12330800-12338000 | Weak transcription | H9 Cell Line | embryonic stem cell |
2 | chr5:12331400-12344600 | Weak transcription | iPS DF 6.9 Cell Line | embryonic stem cell |
3 | chr5:12335000-12337200 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
4 | chr5:12335000-12337400 | Enhancers | HUES64 Cell Line | embryonic stem cell |
5 | chr5:12335000-12339200 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
6 | chr5:12335200-12337000 | Enhancers | HUES6 Cell Line | embryonic stem cell |
7 | chr5:12335400-12337000 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
8 | chr5:12335400-12337200 | Enhancers | HUES48 Cell Line | embryonic stem cell |
9 | chr5:12335800-12337000 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
10 | chr5:12335800-12337200 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
11 | chr5:12335800-12337400 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
12 | chr5:12337000-12338000 | Weak transcription | HUES6 Cell Line | embryonic stem cell |
13 | chr5:12337200-12338400 | Weak transcription | iPS-18 Cell Line | embryonic stem cell |
14 | chr5:12337400-12337800 | Weak transcription | iPS-20b Cell Line | embryonic stem cell |
15 | chr5:12337800-12339200 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
16 | chr5:12338000-12338400 | Enhancers | HUES6 Cell Line | embryonic stem cell |
17 | chr5:12338000-12339200 | Enhancers | H9 Cell Line | embryonic stem cell |
18 | chr5:12338400-12338800 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
19 | chr5:12346400-12346600 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
20 | chr5:12349200-12349400 | ZNF genes & repeats | H1 Derived Mesenchymal Stem Cells | ES cell derived |
21 | chr5:12354800-12355200 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
22 | chr5:12354800-12355200 | Enhancers | HUES64 Cell Line | embryonic stem cell |
23 | chr5:12355000-12355200 | Enhancers | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
24 | chr5:12355000-12355400 | Enhancers | H9 Cell Line | embryonic stem cell |
25 | chr5:12355200-12387400 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
26 | chr5:12358200-12360000 | Enhancers | NH-A | brain |
27 | chr5:12363800-12364000 | Enhancers | iPS DF 6.9 Cell Line | embryonic stem cell |
28 | chr5:12364000-12364200 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
29 | chr5:12364000-12368800 | Weak transcription | iPS DF 6.9 Cell Line | embryonic stem cell |
30 | chr5:12368400-12369000 | Enhancers | H9 Cell Line | embryonic stem cell |
31 | chr5:12368600-12369000 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
32 | chr5:12368800-12369000 | Enhancers | iPS DF 6.9 Cell Line | embryonic stem cell |
33 | chr5:12372400-12372600 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
34 | chr5:12387200-12387800 | Enhancers | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
35 | chr5:12387400-12387800 | Enhancers | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
36 | chr5:12392600-12393000 | Enhancers | hESC Derived CD56+ Mesoderm Cultured Cells | ES cell derived |
37 | chr5:12399600-12400600 | Enhancers | Foreskin Keratinocyte Primary Cells skin02 | Skin |
38 | chr5:12399600-12400600 | Enhancers | Foreskin Keratinocyte Primary Cells skin03 | Skin |
39 | chr5:12400000-12400400 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
40 | chr5:12400000-12401000 | Enhancers | HMEC | breast |
41 | chr5:12411400-12413800 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
42 | chr5:12412400-12412600 | Enhancers | iPS DF 6.9 Cell Line | embryonic stem cell |
43 | chr5:12413000-12413800 | Enhancers | H1 Cell Line | embryonic stem cell |
44 | chr5:12413000-12414200 | Enhancers | HUES48 Cell Line | embryonic stem cell |
45 | chr5:12413000-12414600 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
46 | chr5:12413200-12413600 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
47 | chr5:12413200-12414000 | Enhancers | HUES6 Cell Line | embryonic stem cell |
48 | chr5:12413200-12414200 | Enhancers | ES-WA7 Cell Line | embryonic stem cell |
49 | chr5:12413200-12414200 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
50 | chr5:12413200-12414600 | Enhancers | HUES64 Cell Line | embryonic stem cell |