Variant report
Variant | nsv1017679 |
---|---|
Chromosome Location | chr5:12457731-13393269 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:3089)
- CpG islands (count:1221)
- Chromatin interactive region (count:190)
- LncRNA region (count:39)
- 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 | chr5:12573954-12574062 | K562 | blood: | n/a | n/a |
2 | ARID3A | chr5:12605684-12605760 | HepG2 | liver: | n/a | n/a |
3 | ARID3A | chr5:12772446-12772684 | K562 | blood: | n/a | n/a |
4 | ARID3A | chr5:12629284-12629314 | K562 | blood: | n/a | n/a |
5 | ARID3A | chr5:12587530-12587610 | K562 | blood: | n/a | n/a |
6 | ARID3A | chr5:13184282-13184319 | K562 | blood: | n/a | n/a |
7 | ARID3A | chr5:12845071-12845075 | K562 | blood: | n/a | n/a |
8 | ARID3A | chr5:12615141-12616053 | K562 | blood: | n/a | n/a |
9 | ARID3A | chr5:12611278-12611564 | K562 | blood: | n/a | n/a |
10 | ARID3A | chr5:12941977-12941988 | K562 | blood: | n/a | n/a |
11 | ARID3A | chr5:12625817-12626175 | K562 | blood: | n/a | n/a |
12 | ARID3A | chr5:12645737-12645937 | K562 | blood: | n/a | n/a |
13 | ATF1 | chr5:12599710-12599720 | K562 | blood: | n/a | n/a |
14 | ATF1 | chr5:12865632-12865696 | K562 | blood: | n/a | n/a |
15 | ATF1 | chr5:12612014-12612205 | K562 | blood: | n/a | n/a |
16 | ATF1 | chr5:12625855-12626127 | K562 | blood: | n/a | n/a |
17 | ATF1 | chr5:12772433-12772741 | K562 | blood: | n/a | n/a |
18 | ATF1 | chr5:13300542-13300614 | K562 | blood: | n/a | n/a |
19 | ATF1 | chr5:12636538-12636665 | K562 | blood: | n/a | n/a |
20 | ATF1 | chr5:12615012-12615715 | K562 | blood: | n/a | n/a |
21 | ATF1 | chr5:12611394-12611564 | K562 | blood: | n/a | n/a |
22 | ATF1 | chr5:12989705-12989784 | K562 | blood: | n/a | n/a |
23 | ATF1 | chr5:12777500-12777758 | K562 | blood: | n/a | n/a |
24 | ATF2 | chr5:12648499-12649011 | H1-hESC | embryonic stem cell: | n/a | n/a |
25 | ATF2 | chr5:12657998-12658420 | H1-hESC | embryonic stem cell: | n/a | n/a |
26 | ATF2 | chr5:12668042-12668298 | H1-hESC | embryonic stem cell: | n/a | n/a |
27 | ATF2 | chr5:12662664-12663813 | H1-hESC | embryonic stem cell: | n/a | n/a |
28 | ATF2 | chr5:12667909-12668201 | H1-hESC | embryonic stem cell: | n/a | n/a |
29 | ATF2 | chr5:12660692-12662536 | H1-hESC | embryonic stem cell: | n/a | n/a |
30 | ATF2 | chr5:12658521-12660660 | H1-hESC | embryonic stem cell: | n/a | n/a |
31 | ATF2 | chr5:12623287-12624095 | H1-hESC | embryonic stem cell: | n/a | n/a |
32 | ATF2 | chr5:12662712-12663504 | H1-hESC | embryonic stem cell: | n/a | n/a |
33 | ATF3 | chr5:12772509-12772655 | K562 | blood: | n/a | n/a |
34 | ATF3 | chr5:12772414-12772810 | K562 | blood: | n/a | n/a |
35 | BACH1 | chr5:12772460-12772773 | K562 | blood: | n/a | n/a |
36 | BACH1 | chr5:12627924-12628106 | K562 | blood: | n/a | n/a |
37 | BACH1 | chr5:12934907-12935156 | H1-hESC | embryonic stem cell: | n/a | n/a |
38 | BACH1 | chr5:12627636-12627648 | K562 | blood: | n/a | n/a |
39 | BACH1 | chr5:13251958-13252398 | H1-hESC | embryonic stem cell: | n/a | n/a |
40 | BACH1 | chr5:12615423-12615929 | K562 | blood: | n/a | n/a |
41 | BATF | chr5:12791862-12792048 | GM12878 | blood: | n/a | n/a |
42 | BCL11A | chr5:12505213-12505415 | H1-hESC | embryonic stem cell: | n/a | n/a |
43 | BCLAF1 | chr5:12615205-12615584 | K562 | blood: | n/a | n/a |
44 | BHLHE40 | chr5:12574678-12575143 | K562 | blood: | n/a | n/a |
45 | BHLHE40 | chr5:12772578-12772678 | K562 | blood: | n/a | n/a |
46 | BHLHE40 | chr5:12616429-12616837 | K562 | blood: | n/a | n/a |
47 | BHLHE40 | chr5:12614798-12616107 | K562 | blood: | n/a | n/a |
48 | BRCA1 | chr5:12945742-12945755 | H1-hESC | embryonic stem cell: | n/a | n/a |
49 | BRCA1 | chr5:13190003-13190070 | HepG2 | liver: | n/a | n/a |
50 | BRCA1 | chr5:13358186-13358855 | Hela-S3 | cervix: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr5:12794310-12794360 | NB4 | blood: | n/a |
2 | chr5:12794310-12794360 | NB4 | blood: | n/a |
3 | chr5:12795705-12795755 | SK-N-MC | brain: | n/a |
4 | chr5:12615428-12615478 | HEK293 | kidney: | embryo |
5 | chr5:12865512-12865562 | LNCaP | prostate: | n/a |
6 | chr5:12669584-12669634 | AG10803 | skin: | n/a |
7 | chr5:12574688-12574738 | K562 | blood: | n/a |
8 | chr5:12883715-12883765 | MCF-7 | breast: | n/a |
9 | chr5:12669584-12669634 | HEK293 | kidney: | embryo |
10 | chr5:13246929-13246979 | NT2-D1 | testis: | n/a |
11 | chr5:12794310-12794360 | HRE | kidney: | n/a |
12 | chr5:12794800-12794850 | PrEC | prostate: | n/a |
13 | chr5:12795183-12795233 | HCF | heart: | n/a |
14 | chr5:12660863-12660913 | PANC-1 | pancreas: | n/a |
15 | chr5:12795183-12795233 | U87 | brain: | n/a |
16 | chr5:12665869-12665919 | AoSMC | blood vessel: | n/a |
17 | chr5:13246929-13246979 | HRCEpiC | kidney: | n/a |
18 | chr5:12795410-12795460 | BE2_C | brain: | n/a |
19 | chr5:12794310-12794360 | LNCaP | prostate: | n/a |
20 | chr5:12574688-12574738 | AG10803 | skin: | n/a |
21 | chr5:12791029-12791079 | HRE | kidney: | n/a |
22 | chr5:12795705-12795755 | GM06990 | blood: | n/a |
23 | chr5:12795410-12795460 | HepG2 | liver: | n/a |
24 | chr5:12615428-12615478 | ProgFib | skin: | n/a |
25 | chr5:12794310-12794360 | Hepatocyte | liver: | n/a |
26 | chr5:12661875-12661925 | HMEC | breast: | n/a |
27 | chr5:12669584-12669634 | BJ | skin: | n/a |
28 | chr5:12665869-12665919 | GM19239 | blood: | n/a |
29 | chr5:12665869-12665919 | GM12892 | blood: | n/a |
30 | chr5:12574688-12574738 | NHBE | bronchial: | n/a |
31 | chr5:12794800-12794850 | HEK293 | kidney: | embryo |
32 | chr5:12665869-12665919 | NH-A | brain: | n/a |
33 | chr5:12623177-12623227 | HEK293 | kidney: | embryo |
34 | chr5:12660863-12660913 | GM12878 | blood: | n/a |
35 | chr5:12865512-12865562 | NHDF-neo | bronchial: | n/a |
36 | chr5:12865512-12865562 | HepG2 | liver: | n/a |
37 | chr5:12795705-12795755 | AG09319 | gingival: | n/a |
38 | chr5:12574872-12574922 | SAEC | small airway: | n/a |
39 | chr5:12795705-12795755 | CMK | blood: | n/a |
40 | chr5:12661875-12661925 | T-47D | breast: | n/a |
41 | chr5:12665869-12665919 | AG09309 | skin: | n/a |
42 | chr5:12865512-12865562 | GM19239 | blood: | n/a |
43 | chr5:12660863-12660913 | U87 | brain: | n/a |
44 | chr5:12883715-12883765 | RPTEC | kidney: | n/a |
45 | chr5:12794310-12794360 | HIPEpiC | eye: | n/a |
46 | chr5:12636281-12636331 | ovcar-3 | ovarian: | n/a |
47 | chr5:12574872-12574922 | AG10803 | skin: | n/a |
48 | chr5:12660863-12660913 | HIPEpiC | eye: | n/a |
49 | chr5:12865512-12865562 | HL-60 | blood: | n/a |
50 | chr5:12791029-12791079 | HNPCEpiC | eye: | n/a |
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr5:12583560..12586029-chr5:12586598..12589035,2 | K562 | blood: | |
2 | chr5:13103239..13105565-chr5:13106592..13108892,2 | K562 | blood: | |
3 | chr5:13103124..13105625-chr5:13106921..13109867,3 | MCF-7 | breast: | |
4 | chr5:12576814..12579689-chr5:12594654..12596559,2 | K562 | blood: | |
5 | chr5:12612602..12617488-chr5:12617661..12622972,6 | K562 | blood: | |
6 | chr5:12557146..12558747-chr5:12560771..12562482,2 | K562 | blood: | |
7 | chr5:13178054..13180506-chr5:13181113..13183041,2 | MCF-7 | breast: | |
8 | chr5:12579405..12581985-chr5:12616959..12619800,2 | K562 | blood: | |
9 | chr5:13218755..13219303-chr5:13326479..13326996,2 | MCF-7 | breast: | |
10 | chr5:13277531..13280283-chr5:13281265..13283998,2 | K562 | blood: | |
11 | chr5:12760900..12763053-chr5:12763056..12765696,2 | K562 | blood: | |
12 | chr5:12815455..12818211-chr5:12818393..12820982,3 | MCF-7 | breast: | |
13 | chr5:13005667..13007394-chr5:13011256..13013140,2 | MCF-7 | breast: | |
14 | chr5:12696352..12698473-chr5:12701723..12704711,2 | MCF-7 | breast: | |
15 | chr5:12869277..12872072-chr5:12892100..12894392,2 | K562 | blood: | |
16 | chr5:12780362..12783052-chr5:12785644..12787505,2 | K562 | blood: | |
17 | chr5:12637921..12640108-chr5:12640320..12642573,2 | K562 | blood: | |
18 | chr5:12572185..12574233-chr5:12590584..12592577,2 | K562 | blood: | |
19 | chr5:12566855..12569678-chr5:12570834..12573967,4 | MCF-7 | breast: | |
20 | chr5:12292464..12293235-chr5:12598697..12599332,3 | MCF-7 | breast: | |
21 | chr5:13218784..13219288-chr5:13272679..13273262,2 | MCF-7 | breast: | |
22 | chr5:12566855..12569678-chr5:12570834..12573967,4 | MCF-7 | breast: | |
23 | chr5:12608674..12611130-chr5:12636501..12638880,2 | K562 | blood: | |
24 | chr5:12573778..12576984-chr5:12577746..12580874,3 | K562 | blood: | |
25 | chr5:12905986..12907777-chr5:12907852..12910018,2 | MCF-7 | breast: | |
26 | chr5:12833534..12837794-chr5:12838880..12843037,3 | MCF-7 | breast: | |
27 | chr5:13022786..13025685-chr5:13031355..13034091,2 | MCF-7 | breast: | |
28 | chr5:12810723..12813220-chr5:12814346..12816159,2 | MCF-7 | breast: | |
29 | chr1:153295251..153295999-chr5:12761269..12762010,2 | MCF-7 | breast: | |
30 | chr5:13213588..13216365-chr5:13217197..13220687,4 | MCF-7 | breast: | |
31 | chr5:12790107..12792363-chr5:12800379..12802802,3 | MCF-7 | breast: | |
32 | chr5:12710496..12712610-chr5:12713708..12716321,2 | MCF-7 | breast: | |
33 | chr5:13218755..13219303-chr5:13326479..13326996,2 | MCF-7 | breast: | |
34 | chr5:12654971..12655664-chr8:60884734..60885526,2 | MCF-7 | breast: | |
35 | chr5:12614374..12617488-chr5:12617619..12619777,3 | K562 | blood: | |
36 | chr5:13058104..13059771-chr5:13061360..13063234,2 | K562 | blood: | |
37 | chr5:12562087..12563726-chr5:12565679..12568553,2 | K562 | blood: | |
38 | chr5:12853246..12855254-chr5:12857418..12860229,2 | MCF-7 | breast: | |
39 | chr5:12474403..12476609-chr5:12481266..12483137,2 | MCF-7 | breast: | |
40 | chr5:12869277..12872072-chr5:12892100..12894392,2 | K562 | blood: | |
41 | chr5:13182758..13186153-chr5:13186241..13189631,3 | MCF-7 | breast: | |
42 | chr5:13277531..13279609-chr5:13281265..13283466,2 | K562 | blood: | |
43 | chr5:12743681..12745562-chr5:12760278..12762840,2 | K562 | blood: | |
44 | chr2:127182543..127183530-chr5:12689783..12690762,2 | MCF-7 | breast: | |
45 | chr5:12780362..12783052-chr5:12785644..12787505,2 | K562 | blood: | |
46 | chr5:12757621..12760058-chr5:12760754..12763671,2 | K562 | blood: | |
47 | chr5:13058104..13059771-chr5:13061360..13063234,2 | K562 | blood: | |
48 | chr5:13384268..13385972-chr5:13389796..13392707,2 | K562 | blood: | |
49 | chr5:13277531..13280283-chr5:13281265..13283998,2 | K562 | blood: | |
50 | chr5:12998465..13001309-chr5:13002975..13005626,3 | MCF-7 | breast: |
(count:39 , 50 per page) page:
1
No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-TRIO-4 | chr5:12574969-12575164 | NONHSAT100514 |
2 | lnc-TRIO-4 | chr5:12595809-12595890 | ENSG00000248131 |
3 | lnc-DNAH5-8 | chr5:12902058-12902176 | NONHSAT100521 |
4 | lnc-DNAH5-8 | chr5:12888100-12888396 | NONHSAT100521 |
5 | lnc-DNAH5-7 | chr5:13250347-13250774 | NONHSAT100525 |
6 | lnc-DNAH5-2 | chr5:12837290-12837367 | XLOC_004737 |
7 | lnc-TRIO-4 | chr5:12805052-12805295 | NONHSAT100511 |
8 | lnc-TRIO-4 | chr5:12574969-12575164 | NONHSAT100511 |
9 | lnc-TRIO-4 | chr5:12711310-12711411 | NONHSAT100514 |
10 | lnc-TRIO-3 | chr5:13175958-13176099 | ENSG00000248145 |
11 | lnc-TRIO-4 | chr5:12595809-12595890 | ENSG00000248131 |
12 | lnc-TRIO-4 | chr5:12574969-12575164 | ENSG00000248131 |
13 | lnc-TRIO-4 | chr5:12711310-12711411 | ENSG00000248131 |
14 | lnc-TRIO-4 | chr5:12711310-12711411 | NONHSAT100511 |
15 | lnc-TRIO-8 | chr5:12794843-12795634 | NONHSAT100519 |
16 | lnc-CTNND2-3 | chr5:12737810-12737969 | NONHSAT100517 |
17 | lnc-TRIO-3 | chr5:13179578-13179684 | ENSG00000248145 |
18 | lnc-TRIO-9 | chr5:12707759-12708641 | l_2878_chr5:12648870-12708792_testes |
19 | lnc-CTNND2-3 | chr5:12723669-12723939 | NONHSAT100517 |
20 | lnc-CTNND2-3 | chr5:12663441-12664022 | NONHSAT100517 |
21 | lnc-TRIO-4 | chr5:12759471-12759760 | ENSG00000248131 |
22 | lnc-TRIO-9 | chr5:12648871-12648890 | l_2878_chr5:12648870-12708792_testes |
23 | lnc-TRIO-4 | chr5:12804316-12804475 | ENSG00000248131 |
24 | lnc-TRIO-4 | chr5:12654759-12655799 | ENSG00000248131 |
25 | lnc-TRIO-4 | chr5:12574969-12575164 | ENSG00000248131 |
26 | lnc-TRIO-4 | chr5:12595809-12595890 | ENSG00000248131 |
27 | lnc-CTNND2-3 | chr5:12653170-12654688 | NONHSAT100517 |
28 | lnc-TRIO-9 | chr5:12708650-12708792 | l_2878_chr5:12648870-12708792_testes |
29 | lnc-TRIO-4 | chr5:12805052-12805295 | NONHSAT100514 |
30 | lnc-CTNND2-3 | chr5:12657511-12658227 | NONHSAT100517 |
31 | lnc-DNAH5-1 | chr5:13032123-13032187 | XLOC_004738 |
32 | lnc-TRIO-4 | chr5:12595809-12595890 | NONHSAT100514 |
33 | lnc-DNAH5-1 | chr5:13032898-13032998 | XLOC_004738 |
34 | lnc-CTNND2-4 | chr5:12794212-12794843 | NONHSAT100518 |
35 | lnc-TRIO-4 | chr5:12711310-12711411 | ENSG00000248131 |
36 | lnc-TRIO-4 | chr5:12574969-12575164 | ENSG00000248131 |
37 | lnc-DNAH5-2 | chr5:12861970-12862122 | XLOC_004737 |
38 | lnc-DNAH5-1 | chr5:12914180-12914283 | XLOC_004738 |
39 | lnc-CTNND2-3 | chr5:12659546-12660157 | NONHSAT100517 |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000248783 | TF binding region |
ENSG00000248457 | TF binding region |
ENSG00000222717 | TF binding region |
CT49 | TF binding region |
ENSG00000248145 | TF binding region |
ENSG00000264921 | TF binding region |
ENSG00000251112 | TF binding region |
RPS23P5 | TF binding region |
ENSG00000249053 | TF binding region |
ENSG00000248783 | CpG island |
ENSG00000248457 | CpG island |
ENSG00000222717 | CpG island |
CT49 | CpG island |
ENSG00000248145 | CpG island |
ENSG00000264921 | CpG island |
ENSG00000251112 | CpG island |
RPS23P5 | CpG island |
ENSG00000249053 | CpG island |
ENSG00000248131 | chromatin interactions |
ENSG00000249053 | chromatin interactions |
ENSG00000271002 | chromatin interactions |
ENSG00000222717 | chromatin interactions |
ENSG00000231188 | chromatin interactions |
ENSG00000099194 | chromatin interactions |
ENSG00000248783 | chromatin interactions |
ENSG00000248457 | chromatin interactions |
PURA | miRNA target sites |
NIN | miRNA target sites |
ABL2 | miRNA target sites |
CITED2 | miRNA target sites |
ANKRD13B | miRNA target sites |
BMPR2 | miRNA target sites |
ANKIB1 | miRNA target sites |
MLL2 | miRNA target sites |
FAM171A1 | miRNA target sites |
TRIM44 | miRNA target sites |
PSMD7 | miRNA target sites |
ARHGEF7 | miRNA target sites |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs543140235 | chr5:12459206-12459207 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs149112998 | chr5:12459217-12459218 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs76527092 | chr5:12459218-12459219 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs374103719 | chr5:12459266-12459267 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs560052870 | chr5:12459269-12459270 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs146263294 | chr5:12459282-12459283 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs373295857 | chr5:12459283-12459284 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs551753188 | chr5:12459284-12459285 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs569941324 | chr5:12459345-12459346 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs32251 | chr5:12459370-12459371 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
11 | rs539502826 | chr5:12459377-12459378 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs549188139 | chr5:12459429-12459430 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs558333343 | chr5:12459472-12459473 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs567771038 | chr5:12459489-12459490 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs74714217 | chr5:12459495-12459496 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs538255327 | chr5:12459547-12459548 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs369031346 | chr5:12459553-12459554 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs146925930 | chr5:12459571-12459572 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs116013122 | chr5:12459581-12459582 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs557667723 | chr5:12459586-12459587 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs575929755 | chr5:12459659-12459660 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs376065885 | chr5:12459718-12459719 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs555139699 | chr5:12459758-12459759 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs75386385 | chr5:12459759-12459760 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs541596318 | chr5:12459766-12459767 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs138037327 | chr5:12459847-12459848 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs534014580 | chr5:12459866-12459867 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs372681982 | chr5:12459916-12459917 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs557606387 | chr5:12460250-12460251 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs569953214 | chr5:12460279-12460280 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs536607302 | chr5:12460289-12460290 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs555350688 | chr5:12460299-12460300 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs573608105 | chr5:12460331-12460332 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs377477235 | chr5:12460336-12460337 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs573823850 | chr5:12460382-12460383 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs541124882 | chr5:12460387-12460388 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs553138440 | chr5:12460412-12460413 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
38 | rs578200856 | chr5:12460430-12460431 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
39 | rs58282211 | chr5:12460431-12460432 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
40 | rs57704493 | chr5:12460440-12460441 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
41 | rs531244074 | chr5:12460501-12460502 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
42 | rs542606000 | chr5:12460619-12460620 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
43 | rs561328968 | chr5:12460664-12460665 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
44 | rs114487435 | chr5:12460731-12460732 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
45 | rs16902215 | chr5:12460751-12460752 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
46 | rs76445567 | chr5:12460762-12460763 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
47 | rs138858408 | chr5:12460778-12460779 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
48 | rs182945023 | chr5:12460893-12460894 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
49 | rs569811492 | chr5:12460905-12460906 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
50 | rs116857338 | chr5:12460906-12460907 | Enhancers | 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 |
Bipolar disorder | 19114987 | CNVD |
Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
Glioma | 20126413 | CNVD |
Schizophrenia | 21346763 | CNVD |
Non-syndromic sensorineural hearing loss | 18451855 | 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 |
early-passage human iPS cells | 21368824 | CNVD |
Non-syndromic sensorineural hearing loss | 19587683 | CNVD |
Breast cancer | 22522925 | CNVD |
Schizophrenia | 20967226 | CNVD |
Recurrent pregnancy loss | 19789632 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr5:12459200-12460000 | Enhancers | Fetal Brain Female | brain |
2 | chr5:12460200-12461400 | Enhancers | HMEC | breast |
3 | chr5:12462000-12469200 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
4 | chr5:12488200-12488400 | Enhancers | iPS DF 6.9 Cell Line | embryonic stem cell |
5 | chr5:12488200-12488600 | Enhancers | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
6 | chr5:12501600-12505600 | Weak transcription | H9 Cell Line | embryonic stem cell |
7 | chr5:12503400-12504600 | ZNF genes & repeats | ES-I3 Cell Line | embryonic stem cell |
8 | chr5:12504000-12505000 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
9 | chr5:12504200-12505000 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
10 | chr5:12504200-12507000 | Enhancers | HUES48 Cell Line | embryonic stem cell |
11 | chr5:12504400-12506200 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
12 | chr5:12504600-12505000 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
13 | chr5:12504600-12507400 | Enhancers | HUES64 Cell Line | embryonic stem cell |
14 | chr5:12505000-12505200 | Flanking Active TSS | iPS-18 Cell Line | embryonic stem cell |
15 | chr5:12505000-12505200 | Flanking Active TSS | iPS-20b Cell Line | embryonic stem cell |
16 | chr5:12505000-12506000 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
17 | chr5:12505200-12505400 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
18 | chr5:12505200-12505400 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
19 | chr5:12505400-12505600 | Flanking Active TSS | iPS-20b Cell Line | embryonic stem cell |
20 | chr5:12505400-12505800 | Flanking Active TSS | iPS-18 Cell Line | embryonic stem cell |
21 | chr5:12505600-12505800 | Enhancers | ES-WA7 Cell Line | embryonic stem cell |
22 | chr5:12505600-12506400 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
23 | chr5:12505800-12506000 | Enhancers | H9 Cell Line | embryonic stem cell |
24 | chr5:12505800-12506400 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
25 | chr5:12507200-12507400 | Weak transcription | HUES6 Cell Line | embryonic stem cell |
26 | chr5:12507600-12522400 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
27 | chr5:12509800-12511800 | Weak transcription | H1 Cell Line | embryonic stem cell |
28 | chr5:12532200-12532800 | ZNF genes & repeats | Pancreas | Pancrea |
29 | chr5:12535400-12535600 | Weak transcription | H9 Cell Line | embryonic stem cell |
30 | chr5:12535600-12535800 | Enhancers | H9 Cell Line | embryonic stem cell |
31 | chr5:12562600-12569200 | Weak transcription | Placenta | Placenta |
32 | chr5:12565600-12570400 | Weak transcription | K562 | blood |
33 | chr5:12567600-12568200 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
34 | chr5:12569200-12570800 | Strong transcription | Placenta | Placenta |
35 | chr5:12570400-12572400 | Strong transcription | K562 | blood |
36 | chr5:12570800-12573800 | Weak transcription | Placenta | Placenta |
37 | chr5:12572400-12573000 | Weak transcription | K562 | blood |
38 | chr5:12573000-12576200 | Active TSS | K562 | blood |
39 | chr5:12573800-12575400 | Active TSS | Placenta | Placenta |
40 | chr5:12576200-12577600 | Weak transcription | K562 | blood |
41 | chr5:12577800-12578000 | ZNF genes & repeats | K562 | blood |
42 | chr5:12578000-12581200 | Weak transcription | K562 | blood |
43 | chr5:12579800-12580800 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
44 | chr5:12579800-12581000 | Enhancers | HUES48 Cell Line | embryonic stem cell |
45 | chr5:12580200-12580800 | Enhancers | HUES64 Cell Line | embryonic stem cell |
46 | chr5:12580400-12580800 | Enhancers | HUES6 Cell Line | embryonic stem cell |
47 | chr5:12581200-12582000 | Strong transcription | K562 | blood |
48 | chr5:12582000-12596000 | Weak transcription | K562 | blood |
49 | chr5:12596000-12596400 | Strong transcription | K562 | blood |
50 | chr5:12596400-12597400 | Weak transcription | K562 | blood |