Variant report
Variant | nsv537660 |
---|---|
Chromosome Location | chr5:12049731-12778382 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:2336)
- CpG islands (count:1101)
- Chromatin interactive region (count:157)
- LncRNA region (count:24)
- 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 | chr5:12625817-12626175 | K562 | blood: | n/a | n/a |
2 | ARID3A | chr5:12605684-12605760 | HepG2 | liver: | n/a | n/a |
3 | ARID3A | chr5:12573954-12574062 | K562 | blood: | n/a | n/a |
4 | ARID3A | chr5:12645737-12645937 | K562 | blood: | n/a | n/a |
5 | ARID3A | chr5:12629284-12629314 | K562 | blood: | n/a | n/a |
6 | ARID3A | chr5:12587530-12587610 | K562 | blood: | n/a | n/a |
7 | ARID3A | chr5:12611278-12611564 | K562 | blood: | n/a | n/a |
8 | ARID3A | chr5:12772446-12772684 | K562 | blood: | n/a | n/a |
9 | ARID3A | chr5:12615141-12616053 | K562 | blood: | n/a | n/a |
10 | ATF1 | chr5:12434123-12434173 | K562 | blood: | n/a | n/a |
11 | ATF1 | chr5:12777500-12777758 | K562 | blood: | n/a | n/a |
12 | ATF1 | chr5:12772433-12772741 | K562 | blood: | n/a | n/a |
13 | ATF1 | chr5:12611394-12611564 | K562 | blood: | n/a | n/a |
14 | ATF1 | chr5:12636538-12636665 | K562 | blood: | n/a | n/a |
15 | ATF1 | chr5:12625855-12626127 | K562 | blood: | n/a | n/a |
16 | ATF1 | chr5:12406373-12406469 | K562 | blood: | n/a | n/a |
17 | ATF1 | chr5:12612014-12612205 | K562 | blood: | n/a | n/a |
18 | ATF1 | chr5:12599710-12599720 | K562 | blood: | n/a | n/a |
19 | ATF1 | chr5:12615012-12615715 | K562 | blood: | n/a | n/a |
20 | ATF2 | chr5:12323639-12324247 | H1-hESC | embryonic stem cell: | n/a | n/a |
21 | ATF2 | chr5:12668042-12668298 | H1-hESC | embryonic stem cell: | n/a | n/a |
22 | ATF2 | chr5:12662712-12663504 | H1-hESC | embryonic stem cell: | n/a | n/a |
23 | ATF2 | chr5:12657998-12658420 | 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 | chr5:12330948-12331626 | H1-hESC | embryonic stem cell: | n/a | n/a |
26 | ATF2 | chr5:12667909-12668201 | H1-hESC | embryonic stem cell: | n/a | n/a |
27 | ATF2 | chr5:12623287-12624095 | H1-hESC | embryonic stem cell: | n/a | n/a |
28 | ATF2 | chr5:12658521-12660660 | H1-hESC | embryonic stem cell: | n/a | n/a |
29 | ATF2 | chr5:12323694-12324233 | H1-hESC | embryonic stem cell: | n/a | n/a |
30 | ATF2 | chr5:12331018-12331533 | H1-hESC | embryonic stem cell: | n/a | n/a |
31 | ATF2 | chr5:12648499-12649011 | H1-hESC | embryonic stem cell: | n/a | n/a |
32 | ATF2 | chr5:12662664-12663813 | H1-hESC | embryonic stem cell: | n/a | n/a |
33 | ATF3 | chr5:12772414-12772810 | K562 | blood: | n/a | n/a |
34 | ATF3 | chr5:12772509-12772655 | K562 | blood: | n/a | n/a |
35 | BACH1 | chr5:12243241-12243564 | H1-hESC | embryonic stem cell: | n/a | n/a |
36 | BACH1 | chr5:12772460-12772773 | K562 | blood: | n/a | n/a |
37 | BACH1 | chr5:12615423-12615929 | K562 | blood: | n/a | n/a |
38 | BACH1 | chr5:12627636-12627648 | K562 | blood: | n/a | n/a |
39 | BACH1 | chr5:12627924-12628106 | K562 | blood: | n/a | n/a |
40 | BATF | chr5:12265561-12265794 | GM12878 | blood: | n/a | n/a |
41 | BATF | chr5:12265560-12265791 | GM12878 | blood: | n/a | n/a |
42 | BCL11A | chr5:12323772-12323999 | H1-hESC | embryonic stem cell: | n/a | n/a |
43 | BCL11A | chr5:12332656-12332919 | H1-hESC | embryonic stem cell: | n/a | n/a |
44 | BCL11A | chr5:12505213-12505415 | H1-hESC | embryonic stem cell: | n/a | n/a |
45 | BCLAF1 | chr5:12615205-12615584 | K562 | blood: | n/a | n/a |
46 | BHLHE40 | chr5:12238302-12238498 | GM12878 | blood: | n/a | n/a |
47 | BHLHE40 | chr5:12772578-12772678 | K562 | blood: | n/a | n/a |
48 | BHLHE40 | chr5:12574678-12575143 | K562 | blood: | n/a | n/a |
49 | BHLHE40 | chr5:12616429-12616837 | K562 | blood: | n/a | n/a |
50 | BHLHE40 | chr5:12614798-12616107 | K562 | blood: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr5:12669584-12669634 | SK-N-SH | brain: | n/a |
2 | chr5:12615428-12615478 | HCF | heart: | n/a |
3 | chr5:12230982-12231032 | AG04449 | skin: | fetal |
4 | chr5:12669584-12669634 | SK-N-SH | brain: | n/a |
5 | chr5:12615428-12615478 | HCF | heart: | n/a |
6 | chr5:12230982-12231032 | AG04449 | skin: | fetal |
7 | chr5:12414368-12414418 | H1-hESC | embryonic stem cell: | embryo |
8 | chr5:12623177-12623227 | HEK293 | kidney: | embryo |
9 | chr5:12661875-12661925 | HNPCEpiC | eye: | n/a |
10 | chr5:12176144-12176194 | GM06990 | blood: | n/a |
11 | chr5:12414368-12414418 | HCF | heart: | n/a |
12 | chr5:12238327-12238377 | SK-N-SH | brain: | n/a |
13 | chr5:12331647-12331697 | HCPEpiC | choroid plexus: | n/a |
14 | chr5:12414368-12414418 | HEEpiC | esophagus: | n/a |
15 | chr5:12414368-12414418 | AoSMC | blood vessel: | n/a |
16 | chr5:12665869-12665919 | BE2_C | brain: | n/a |
17 | chr5:12324174-12324224 | NT2-D1 | testis: | n/a |
18 | chr5:12217373-12217423 | Jurkat | blood: | n/a |
19 | chr5:12665869-12665919 | HCT-116 | colon: | n/a |
20 | chr5:12663018-12663068 | BJ | skin: | n/a |
21 | chr5:12669584-12669634 | HepG2 | liver: | n/a |
22 | chr5:12623177-12623227 | IMR90 | lung: | fetal |
23 | chr5:12230982-12231032 | MCF-7 | breast: | n/a |
24 | chr5:12324174-12324224 | HNPCEpiC | eye: | n/a |
25 | chr5:12623177-12623227 | GM06990 | blood: | n/a |
26 | chr5:12230982-12231032 | Hepatocyte | liver: | n/a |
27 | chr5:12238327-12238377 | HCF | heart: | n/a |
28 | chr5:12217373-12217423 | HAEpiC | amniotic membrane: | n/a |
29 | chr5:12230982-12231032 | LNCaP | prostate: | n/a |
30 | chr5:12230982-12231032 | U87 | brain: | n/a |
31 | chr5:12665869-12665919 | HUVEC | blood vessel: | n/a |
32 | chr5:12355075-12355125 | AoSMC | blood vessel: | n/a |
33 | chr5:12176144-12176194 | SKMC | muscle: | n/a |
34 | chr5:12636281-12636331 | HAEpiC | amniotic membrane: | n/a |
35 | chr5:12324174-12324224 | HEEpiC | esophagus: | n/a |
36 | chr5:12574872-12574922 | AG04449 | skin: | fetal |
37 | chr5:12663018-12663068 | AG09309 | skin: | n/a |
38 | chr5:12615428-12615478 | NHBE | bronchial: | n/a |
39 | chr5:12669584-12669634 | HCM | heart: | n/a |
40 | chr5:12355075-12355125 | HCT-116 | colon: | n/a |
41 | chr5:12230982-12231032 | HEEpiC | esophagus: | n/a |
42 | chr5:12324174-12324224 | HPAEpiC | pulmonary alveolar: | n/a |
43 | chr5:12230982-12231032 | AG09309 | skin: | n/a |
44 | chr5:12230982-12231032 | HCF | heart: | n/a |
45 | chr5:12574688-12574738 | GM06990 | blood: | n/a |
46 | chr5:12414368-12414418 | SK-N-SH | brain: | n/a |
47 | chr5:12663018-12663068 | HCT-116 | colon: | n/a |
48 | chr5:12230982-12231032 | NHBE | bronchial: | n/a |
49 | chr5:12230982-12231032 | HEK293 | kidney: | embryo |
50 | chr5:12574872-12574922 | HIPEpiC | eye: | n/a |
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr5:12569399..12571855-chr5:12571987..12574855,2 | K562 | blood: | |
2 | chr5:12562087..12563881-chr5:12566086..12568996,3 | K562 | blood: | |
3 | chr5:12474522..12476679-chr5:12488826..12490778,2 | MCF-7 | breast: | |
4 | chr5:12139069..12142068-chr5:12143748..12145946,2 | MCF-7 | breast: | |
5 | chr5:11267350..11268062-chr5:12272245..12273088,2 | MCF-7 | breast: | |
6 | chr5:12614374..12617488-chr5:12617619..12619777,3 | K562 | blood: | |
7 | chr5:12235722..12238452-chr5:12260022..12262420,2 | MCF-7 | breast: | |
8 | chr5:5813548..5816477-chr5:12215345..12217101,2 | MCF-7 | breast: | |
9 | chr5:12174934..12177905-chr5:12178923..12181158,2 | MCF-7 | breast: | |
10 | chr5:12572879..12575641-chr5:12583464..12586142,3 | K562 | blood: | |
11 | chr5:12647069..12649041-chr5:12653810..12656965,3 | K562 | blood: | |
12 | chr5:12099951..12101118-chr5:12272149..12273158,7 | MCF-7 | breast: | |
13 | chr5:12652370..12654399-chr5:12657778..12661483,4 | K562 | blood: | |
14 | chr5:12237914..12240147-chr5:12240749..12242616,3 | MCF-7 | breast: | |
15 | chr5:12579463..12582015-chr5:12766907..12769227,3 | K562 | blood: | |
16 | chr5:12653349..12655490-chr5:12663314..12666064,2 | K562 | blood: | |
17 | chr5:12163951..12166758-chr5:12177328..12180114,2 | MCF-7 | breast: | |
18 | chr5:12299671..12303215-chr5:12303508..12306059,3 | MCF-7 | breast: | |
19 | chr5:12292464..12293235-chr5:12598697..12599332,3 | MCF-7 | breast: | |
20 | chr5:12703528..12705046-chr5:12710595..12712392,2 | K562 | blood: | |
21 | chr5:12379706..12381246-chr5:12382895..12385623,2 | MCF-7 | breast: | |
22 | chr5:12562087..12563726-chr5:12565679..12568553,2 | K562 | blood: | |
23 | chr5:12174934..12177905-chr5:12178923..12181158,2 | MCF-7 | breast: | |
24 | chr5:12768829..12771225-chr5:12773503..12776685,3 | K562 | blood: | |
25 | chr5:12710496..12712610-chr5:12713708..12716321,2 | MCF-7 | breast: | |
26 | chr5:12583560..12586029-chr5:12586598..12589035,2 | K562 | blood: | |
27 | chr5:12652956..12655094-chr5:12656361..12658712,2 | MCF-7 | breast: | |
28 | chr5:12572185..12574233-chr5:12590584..12592577,2 | K562 | blood: | |
29 | chr5:12743681..12745562-chr5:12760278..12762840,2 | K562 | blood: | |
30 | chr5:12612602..12617488-chr5:12617661..12622972,6 | K562 | blood: | |
31 | chr5:12579405..12581985-chr5:12616959..12619800,2 | K562 | blood: | |
32 | chr5:12099951..12101118-chr5:12272149..12273158,7 | MCF-7 | breast: | |
33 | chr5:12292436..12293333-chr5:13478862..13479446,3 | MCF-7 | breast: | |
34 | chr5:12537002..12539656-chr5:12586201..12588814,2 | K562 | blood: | |
35 | chr5:12757621..12760058-chr5:12760754..12763671,2 | K562 | blood: | |
36 | chr5:12542323..12544151-chr5:12547320..12550095,2 | K562 | blood: | |
37 | chr5:12652956..12655094-chr5:12656361..12658712,2 | MCF-7 | breast: | |
38 | chr5:12679944..12681930-chr5:12685116..12688736,4 | K562 | blood: | |
39 | chr5:12608674..12611130-chr5:12636501..12638880,2 | K562 | blood: | |
40 | chr5:12573778..12576984-chr5:12577746..12580874,3 | K562 | blood: | |
41 | chr10:129226745..129228474-chr5:12214762..12216262,2 | MCF-7 | breast: | |
42 | chr5:12292464..12293235-chr5:12598697..12599332,3 | MCF-7 | breast: | |
43 | chr5:12063386..12065560-chr5:12066303..12068049,2 | MCF-7 | breast: | |
44 | chr5:12139069..12142068-chr5:12143748..12145946,2 | MCF-7 | breast: | |
45 | chr5:12588618..12591381-chr5:12596169..12597807,2 | K562 | blood: | |
46 | chr5:12573179..12575899-chr5:12592386..12594967,2 | K562 | blood: | |
47 | chr5:12679944..12681930-chr5:12685116..12688736,4 | K562 | blood: | |
48 | chr5:12647069..12649041-chr5:12653810..12656965,3 | K562 | blood: | |
49 | chr5:12542323..12544151-chr5:12547320..12550095,2 | K562 | blood: | |
50 | chr5:12560874..12562617-chr5:12573988..12576942,2 | K562 | blood: |
(count:24 , 50 per page) page:
1
No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-TRIO-9 | chr5:12707759-12708641 | l_2878_chr5:12648870-12708792_testes |
2 | lnc-TRIO-4 | chr5:12711310-12711411 | ENSG00000248131 |
3 | lnc-CTNND2-3 | chr5:12663441-12664022 | NONHSAT100517 |
4 | lnc-CTNND2-3 | chr5:12659546-12660157 | NONHSAT100517 |
5 | lnc-TRIO-4 | chr5:12711310-12711411 | ENSG00000248131 |
6 | lnc-CTNND2-3 | chr5:12723669-12723939 | NONHSAT100517 |
7 | lnc-TRIO-4 | chr5:12574969-12575164 | NONHSAT100511 |
8 | lnc-TRIO-4 | chr5:12711310-12711411 | NONHSAT100514 |
9 | lnc-TRIO-4 | chr5:12595809-12595890 | ENSG00000248131 |
10 | lnc-TRIO-4 | chr5:12595809-12595890 | ENSG00000248131 |
11 | lnc-TRIO-4 | chr5:12711310-12711411 | NONHSAT100511 |
12 | lnc-TRIO-4 | chr5:12654759-12655799 | ENSG00000248131 |
13 | lnc-TRIO-9 | chr5:12648871-12648890 | l_2878_chr5:12648870-12708792_testes |
14 | lnc-TRIO-4 | chr5:12574969-12575164 | NONHSAT100514 |
15 | lnc-CTNND2-3 | chr5:12653170-12654688 | NONHSAT100517 |
16 | lnc-TRIO-4 | chr5:12574969-12575164 | ENSG00000248131 |
17 | lnc-CTNND2-3 | chr5:12657511-12658227 | NONHSAT100517 |
18 | lnc-TRIO-4 | chr5:12595809-12595890 | NONHSAT100514 |
19 | lnc-TRIO-4 | chr5:12574969-12575164 | ENSG00000248131 |
20 | lnc-TRIO-9 | chr5:12708650-12708792 | l_2878_chr5:12648870-12708792_testes |
21 | lnc-TRIO-4 | chr5:12574969-12575164 | ENSG00000248131 |
22 | lnc-TRIO-4 | chr5:12759471-12759760 | ENSG00000248131 |
23 | lnc-CTNND2-3 | chr5:12737810-12737969 | NONHSAT100517 |
24 | lnc-TRIO-4 | chr5:12595809-12595890 | ENSG00000248131 |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000248783 | TF binding region |
CT49 | TF binding region |
ENSG00000264921 | TF binding region |
RNU6-679P | TF binding region |
ENSG00000248783 | CpG island |
CT49 | CpG island |
ENSG00000264921 | CpG island |
RNU6-679P | CpG island |
ENSG00000248131 | chromatin interactions |
ENSG00000231188 | chromatin interactions |
ENSG00000248783 | chromatin interactions |
ENSG00000099194 | chromatin interactions |
BMPR2 | miRNA target sites |
ABL2 | miRNA target sites |
CITED2 | miRNA target sites |
FAM171A1 | miRNA target sites |
PURA | miRNA target sites |
NIN | miRNA target sites |
MLL2 | miRNA target sites |
PSMD7 | miRNA target sites |
TRIM44 | miRNA target sites |
ARHGEF7 | miRNA target sites |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs184023053 | chr5:12056632-12056633 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
2 | rs142631129 | chr5:12056679-12056680 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
3 | rs188524189 | chr5:12056723-12056724 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
4 | rs151005573 | chr5:12056737-12056738 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
5 | rs7732848 | chr5:12056739-12056740 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
6 | rs570729089 | chr5:12056749-12056750 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
7 | rs538533617 | chr5:12056754-12056755 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
8 | rs532749465 | chr5:12056776-12056777 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
9 | rs34120980 | chr5:12056784-12056785 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
10 | rs115019078 | chr5:12056801-12056802 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs13185447 | chr5:12056802-12056803 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
12 | rs13185612 | chr5:12056837-12056838 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
13 | rs193071453 | chr5:12056890-12056891 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs55813664 | chr5:12056923-12056924 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
15 | rs150086359 | chr5:12056926-12056927 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs576725025 | chr5:12056954-12056955 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs113619479 | chr5:12056957-12056958 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs76312698 | chr5:12056963-12056964 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs138600508 | chr5:12056997-12056998 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs74962734 | chr5:12057005-12057006 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs75435355 | chr5:12057011-12057012 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs76079765 | chr5:12057018-12057019 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs562689039 | chr5:12057023-12057024 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs76933510 | chr5:12057027-12057028 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs74419756 | chr5:12057043-12057044 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs112820424 | chr5:12057057-12057058 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs371710034 | chr5:12057063-12057064 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs183310200 | chr5:12057074-12057075 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs56253242 | chr5:12057075-12057076 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs574764054 | chr5:12057077-12057078 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs35889218 | chr5:12057082-12057083 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs75334449 | chr5:12057101-12057102 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs80330519 | chr5:12057102-12057103 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs71599592 | chr5:12057124-12057125 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs71599594 | chr5:12057136-12057137 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs71599591 | chr5:12057139-12057140 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs546272293 | chr5:12057149-12057150 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs71599600 | chr5:12057165-12057166 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs71599593 | chr5:12057171-12057172 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs71599602 | chr5:12057178-12057179 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs74339791 | chr5:12057197-12057198 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs71599596 | chr5:12057200-12057201 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs549943920 | chr5:12070432-12070433 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
44 | rs576946944 | chr5:12070442-12070443 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
45 | rs568624437 | chr5:12070646-12070647 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs541104553 | chr5:12070664-12070665 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs536316658 | chr5:12070672-12070673 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs547879734 | chr5:12070673-12070674 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs149674196 | chr5:12070678-12070679 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs533543739 | chr5:12070711-12070712 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
renal disease | 17924346 | CNVD |
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 |
Melanoma | 22183965 | 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 | 17122850 | CNVD |
Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
Bipolar disorder | 19114987 | CNVD |
Glioma | 20126413 | CNVD |
Schizophrenia | 21346763 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr5:12056600-12056800 | ZNF genes & repeats | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
2 | chr5:12056800-12057200 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
3 | chr5:12070400-12070600 | Enhancers | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
4 | chr5:12070600-12078600 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
5 | chr5:12071800-12072600 | Enhancers | HUES48 Cell Line | embryonic stem cell |
6 | chr5:12072200-12073000 | Enhancers | HUES64 Cell Line | embryonic stem cell |
7 | chr5:12072600-12073000 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
8 | chr5:12072600-12073000 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
9 | chr5:12072600-12073000 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
10 | chr5:12073000-12074000 | Enhancers | Pancreatic Islets | Pancreatic Islet |
11 | chr5:12078400-12079000 | Active TSS | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
12 | chr5:12078600-12078800 | Enhancers | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
13 | chr5:12081200-12081600 | ZNF genes & repeats | H1 Derived Mesenchymal Stem Cells | ES cell derived |
14 | chr5:12095600-12096200 | Enhancers | Cortex derived primary cultured neurospheres | brain |
15 | chr5:12099400-12099600 | Bivalent/Poised TSS | Breast Myoepithelial Primary Cells | Breast |
16 | chr5:12099600-12099800 | Active TSS | Breast Myoepithelial Primary Cells | Breast |
17 | chr5:12102000-12102400 | Enhancers | Fetal Intestine Large | intestine |
18 | chr5:12102600-12103000 | Enhancers | Fetal Brain Male | brain |
19 | chr5:12108600-12112800 | Enhancers | Fetal Intestine Large | intestine |
20 | chr5:12109200-12111000 | Enhancers | Liver | Liver |
21 | chr5:12109200-12111600 | Enhancers | Fetal Intestine Small | intestine |
22 | chr5:12109400-12109600 | Enhancers | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
23 | chr5:12109400-12109800 | Enhancers | Sigmoid Colon | Sigmoid Colon |
24 | chr5:12109600-12109800 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
25 | chr5:12110400-12110800 | Enhancers | Rectal Mucosa Donor 29 | rectum |
26 | chr5:12110400-12111200 | Enhancers | Pancreas | Pancrea |
27 | chr5:12110400-12111200 | Enhancers | Rectal Mucosa Donor 31 | rectum |
28 | chr5:12110800-12111000 | Flanking Active TSS | Rectal Mucosa Donor 29 | rectum |
29 | chr5:12111000-12111400 | Active TSS | Rectal Mucosa Donor 29 | rectum |
30 | chr5:12111600-12112000 | Weak transcription | Fetal Intestine Small | intestine |
31 | chr5:12112000-12112600 | Enhancers | Fetal Intestine Small | intestine |
32 | chr5:12153200-12154000 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |
33 | chr5:12170000-12170600 | Enhancers | Fetal Brain Female | brain |
34 | chr5:12172400-12172600 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
35 | chr5:12172400-12176800 | Enhancers | HUES64 Cell Line | embryonic stem cell |
36 | chr5:12172600-12174400 | Enhancers | HUES48 Cell Line | embryonic stem cell |
37 | chr5:12173400-12173600 | Enhancers | iPS DF 6.9 Cell Line | embryonic stem cell |
38 | chr5:12173600-12175000 | Enhancers | H9 Cell Line | embryonic stem cell |
39 | chr5:12173600-12175600 | Weak transcription | iPS DF 6.9 Cell Line | embryonic stem cell |
40 | chr5:12173600-12176600 | Enhancers | HUES6 Cell Line | embryonic stem cell |
41 | chr5:12173600-12177000 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
42 | chr5:12174000-12174200 | Active TSS | iPS-20b Cell Line | embryonic stem cell |
43 | chr5:12174000-12175600 | Enhancers | H1 Cell Line | embryonic stem cell |
44 | chr5:12174000-12176400 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
45 | chr5:12174000-12177000 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
46 | chr5:12174200-12176200 | Enhancers | ES-WA7 Cell Line | embryonic stem cell |
47 | chr5:12174200-12176400 | Flanking Active TSS | iPS-20b Cell Line | embryonic stem cell |
48 | chr5:12174200-12177000 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
49 | chr5:12174400-12174800 | Flanking Active TSS | HUES48 Cell Line | embryonic stem cell |
50 | chr5:12174800-12175600 | Enhancers | HUES48 Cell Line | embryonic stem cell |