Variant report
Variant | esv2752018 |
---|---|
Chromosome Location | chr3:75393730-75776083 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:7267)
- CpG islands (count:5740)
- Chromatin interactive region (count:16)
- LncRNA region (count:43)
- Mature miRNA region (count: 1)
- miRNA target sites (count:0)
No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | ARID3A | chr3:75736701-75737480 | K562 | blood: | n/a | n/a |
2 | ARID3A | chr3:75693851-75694060 | K562 | blood: | n/a | n/a |
3 | ARID3A | chr3:75691908-75692517 | K562 | blood: | n/a | n/a |
4 | ARID3A | chr3:75710659-75710674 | K562 | blood: | n/a | n/a |
5 | ARID3A | chr3:75739156-75739286 | K562 | blood: | n/a | n/a |
6 | ARID3A | chr3:75754843-75755270 | K562 | blood: | n/a | n/a |
7 | ARID3A | chr3:75717896-75719229 | K562 | blood: | n/a | n/a |
8 | ARID3A | chr3:75718141-75718928 | HepG2 | liver: | n/a | n/a |
9 | ARID3A | chr3:75710663-75710916 | HepG2 | liver: | n/a | n/a |
10 | ARID3A | chr3:75693043-75693065 | K562 | blood: | n/a | n/a |
11 | ARID3A | chr3:75601426-75601483 | K562 | blood: | n/a | n/a |
12 | ARID3A | chr3:75482025-75482381 | HepG2 | liver: | n/a | n/a |
13 | ARID3A | chr3:75719697-75719867 | HepG2 | liver: | n/a | n/a |
14 | ARID3A | chr3:75770122-75770154 | HepG2 | liver: | n/a | n/a |
15 | ATF1 | chr3:75736867-75738707 | K562 | blood: | n/a | n/a |
16 | ATF1 | chr3:75743644-75744222 | K562 | blood: | n/a | n/a |
17 | ATF1 | chr3:75482136-75482245 | K562 | blood: | n/a | n/a |
18 | ATF1 | chr3:75726782-75726783 | K562 | blood: | n/a | n/a |
19 | ATF1 | chr3:75685926-75686418 | K562 | blood: | n/a | n/a |
20 | ATF1 | chr3:75740338-75740804 | K562 | blood: | n/a | n/a |
21 | ATF1 | chr3:75769325-75769986 | K562 | blood: | n/a | n/a |
22 | ATF1 | chr3:75689319-75689814 | K562 | blood: | n/a | n/a |
23 | ATF1 | chr3:75762715-75762961 | K562 | blood: | n/a | n/a |
24 | ATF1 | chr3:75734703-75734852 | K562 | blood: | n/a | n/a |
25 | ATF1 | chr3:75765400-75768808 | K562 | blood: | n/a | n/a |
26 | ATF1 | chr3:75484451-75484710 | K562 | blood: | n/a | n/a |
27 | ATF1 | chr3:75710744-75710785 | K562 | blood: | n/a | n/a |
28 | ATF1 | chr3:75730688-75730845 | K562 | blood: | n/a | n/a |
29 | ATF1 | chr3:75746545-75746765 | K562 | blood: | n/a | n/a |
30 | ATF1 | chr3:75745544-75745744 | K562 | blood: | n/a | n/a |
31 | ATF1 | chr3:75750030-75750205 | K562 | blood: | n/a | n/a |
32 | ATF1 | chr3:75695108-75700001 | K562 | blood: | n/a | n/a |
33 | ATF1 | chr3:75735197-75735394 | K562 | blood: | n/a | n/a |
34 | ATF1 | chr3:75747229-75747380 | K562 | blood: | n/a | n/a |
35 | ATF1 | chr3:75760657-75761408 | K562 | blood: | n/a | n/a |
36 | ATF1 | chr3:75693870-75694088 | K562 | blood: | n/a | n/a |
37 | ATF1 | chr3:75759504-75760427 | K562 | blood: | n/a | n/a |
38 | ATF1 | chr3:75679956-75680482 | K562 | blood: | n/a | n/a |
39 | ATF1 | chr3:75728107-75728162 | K562 | blood: | n/a | n/a |
40 | ATF1 | chr3:75690145-75690820 | K562 | blood: | n/a | n/a |
41 | ATF1 | chr3:75442553-75442767 | K562 | blood: | n/a | n/a |
42 | ATF1 | chr3:75755512-75756182 | K562 | blood: | n/a | n/a |
43 | ATF1 | chr3:75735948-75736287 | K562 | blood: | n/a | n/a |
44 | ATF1 | chr3:75754856-75755222 | K562 | blood: | n/a | n/a |
45 | ATF1 | chr3:75703512-75703565 | K562 | blood: | n/a | n/a |
46 | ATF1 | chr3:75761625-75762259 | K562 | blood: | n/a | n/a |
47 | ATF1 | chr3:75728521-75728535 | K562 | blood: | n/a | n/a |
48 | ATF1 | chr3:75733400-75734148 | K562 | blood: | n/a | n/a |
49 | ATF1 | chr3:75771441-75772260 | K562 | blood: | n/a | n/a |
50 | ATF1 | chr3:75691118-75692520 | K562 | blood: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr3:75412866-75412916 | Jurkat | blood: | n/a |
2 | chr3:75415526-75415576 | HIPEpiC | eye: | n/a |
3 | chr3:75668369-75668419 | U87 | brain: | n/a |
4 | chr3:75666392-75666442 | SK-N-MC | brain: | n/a |
5 | chr3:75719158-75719208 | HEEpiC | esophagus: | n/a |
6 | chr3:75411038-75411088 | AG04450 | lung: | fetal |
7 | chr3:75412866-75412916 | Jurkat | blood: | n/a |
8 | chr3:75415526-75415576 | HIPEpiC | eye: | n/a |
9 | chr3:75668369-75668419 | U87 | brain: | n/a |
10 | chr3:75666392-75666442 | SK-N-MC | brain: | n/a |
11 | chr3:75719158-75719208 | HEEpiC | esophagus: | n/a |
12 | chr3:75411038-75411088 | AG04450 | lung: | fetal |
13 | chr3:75659629-75659679 | HRCEpiC | kidney: | n/a |
14 | chr3:75717248-75717298 | T-47D | breast: | n/a |
15 | chr3:75704951-75705001 | Hepatocyte | liver: | n/a |
16 | chr3:75628932-75628982 | MCF10A-Er-Src | breast: | n/a |
17 | chr3:75658490-75658540 | HCF | heart: | n/a |
18 | chr3:75445738-75445788 | HCT-116 | colon: | n/a |
19 | chr3:75441804-75441854 | HNPCEpiC | eye: | n/a |
20 | chr3:75441804-75441854 | PANC-1 | pancreas: | n/a |
21 | chr3:75482182-75482232 | GM12892 | blood: | n/a |
22 | chr3:75658410-75658460 | RPTEC | kidney: | n/a |
23 | chr3:75705108-75705158 | AG10803 | skin: | n/a |
24 | chr3:75708197-75708247 | NHBE | bronchial: | n/a |
25 | chr3:75712695-75712745 | Jurkat | blood: | n/a |
26 | chr3:75721434-75721484 | PFSK-1 | brain: | n/a |
27 | chr3:75669109-75669159 | ProgFib | skin: | n/a |
28 | chr3:75553294-75553344 | SK-N-SH_RA | brain: | n/a |
29 | chr3:75719158-75719208 | CMK | blood: | n/a |
30 | chr3:75671115-75671165 | SK-N-SH | brain: | n/a |
31 | chr3:75721888-75721938 | HCM | heart: | n/a |
32 | chr3:75484209-75484259 | HCF | heart: | n/a |
33 | chr3:75628932-75628982 | PrEC | prostate: | n/a |
34 | chr3:75661206-75661256 | HCPEpiC | choroid plexus: | n/a |
35 | chr3:75487529-75487579 | IMR90 | lung: | fetal |
36 | chr3:75720876-75720926 | AG04450 | lung: | fetal |
37 | chr3:75484440-75484490 | Hepatocyte | liver: | n/a |
38 | chr3:75717453-75717503 | NT2-D1 | testis: | n/a |
39 | chr3:75658735-75658785 | HNPCEpiC | eye: | n/a |
40 | chr3:75487529-75487579 | NH-A | brain: | n/a |
41 | chr3:75632533-75632583 | HPAEpiC | pulmonary alveolar: | n/a |
42 | chr3:75701993-75702043 | LNCaP | prostate: | n/a |
43 | chr3:75653319-75653369 | HRPEpiC | eye: | n/a |
44 | chr3:75555938-75555988 | GM06990 | blood: | n/a |
45 | chr3:75659629-75659679 | SAEC | small airway: | n/a |
46 | chr3:75721577-75721627 | HCT-116 | colon: | n/a |
47 | chr3:75668369-75668419 | NHDF-neo | bronchial: | n/a |
48 | chr3:75671793-75671843 | RPTEC | kidney: | n/a |
49 | chr3:75721888-75721938 | HAEpiC | amniotic membrane: | n/a |
50 | chr3:75411421-75411471 | HCPEpiC | choroid plexus: | n/a |
(count:16 , 50 per page) page:
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr3:75466672..75467412-chr3:129812592..129813394,2 | NB4 | blood: | |
2 | chr3:75390707..75391392-chr3:75471007..75471537,3 | MCF-7 | breast: | |
3 | chr3:75343239..75343917-chr3:75478470..75479360,2 | MCF-7 | breast: | |
4 | chr19:22025273..22026773-chr3:75695462..75697658,2 | MCF-7 | breast: | |
5 | chr3:75484863..75485638-chr6:26156199..26156944,2 | HCT-116 | colon: | |
6 | chr3:75343035..75343810-chr3:75470999..75471871,7 | MCF-7 | breast: | |
7 | chr3:75717548..75719836-chr9:68411784..68414340,4 | MCF-7 | breast: | |
8 | chr3:75692090..75692596-chr7:138578273..138578773,2 | K562 | blood: | |
9 | chr3:75718137..75719895-chr9:68411990..68414461,3 | MCF-7 | breast: | |
10 | chr11:71498107..71498639-chr3:75483883..75484386,2 | Hela-S3 | cervix: | |
11 | chr3:75343397..75343923-chr3:75600934..75601577,2 | MCF-7 | breast: | |
12 | chr3:75693392..75694000-chr5:103852101..103852601,2 | MCF-7 | breast: | |
13 | chr16:33943186..33943816-chr3:75719164..75719883,2 | MCF-7 | breast: | |
14 | chr3:75343052..75344300-chr3:75470848..75471840,6 | MCF-7 | breast: | |
15 | chr16:436504..437180-chr3:75674246..75674764,2 | MCF-7 | breast: | |
16 | chr17:56709052..56711813-chr3:75770362..75772517,2 | MCF-7 | breast: |
(count:43 , 50 per page) page:
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-FRG2C-3 | chr3:75488905-75488988 | XLOC_002710 |
2 | lnc-FRG2C-3 | chr3:75501683-75501802 | ENSG00000272690.1 |
3 | lnc-FRG2C-10 | chr3:75694930-75696049 | NONHSAT090542 |
4 | lnc-ZNF717-1 | chr3:75721121-75721241 | NONHSAT090545 |
5 | lnc-FRG2C-7 | chr3:75714277-75714354 | NR_037925 |
6 | lnc-CNTN3-1 | chr3:75762167-75762465 | NONHSAT090550 |
7 | lnc-FRG2C-3 | chr3:75500361-75500553 | ENSG00000272690.1 |
8 | lnc-FRG2C-3 | chr3:75500361-75500553 | ENSG00000272690.1 |
9 | lnc-FRG2C-3 | chr3:75501683-75501794 | NONHSAT090533 |
10 | lnc-FRG2C-3 | chr3:75485367-75485503 | XLOC_002710 |
11 | lnc-FRG2C-3 | chr3:75497520-75500553 | NONHSAT090533 |
12 | lnc-FRG2C-3 | chr3:75505768-75506637 | ENSG00000272690.1 |
13 | lnc-FRG2C-7 | chr3:75714678-75716368 | NR_037925 |
14 | lnc-ZNF717-1 | chr3:75679231-75679352 | NONHSAT090540 |
15 | lnc-FRG2C-11 | chr3:75570954-75571163 | NONHSAT090534 |
16 | lnc-FRG2C-2 | chr3:75606223-75606260 | XLOC_002712 |
17 | lnc-FRG2C-2 | chr3:75608026-75608398 | XLOC_002712 |
18 | lnc-FRG2C-7 | chr3:75713970-75714047 | NR_037925 |
19 | lnc-FRG2C-7 | chr3:75713481-75713708 | NR_037925 |
20 | lnc-ZNF717-1 | chr3:75719171-75719204 | NONHSAT090540 |
21 | lnc-FRG2C-3 | chr3:75492659-75492797 | ENSG00000272690.1 |
22 | lnc-ZNF717-3 | chr3:75629129-75629150 | ENSG00000272710.1 |
23 | lnc-FRG2C-10 | chr3:75687750-75688507 | NONHSAT090542 |
24 | lnc-FRG2C-3 | chr3:75484499-75484564 | ENSG00000272690.1 |
25 | lnc-ZNF717-1 | chr3:75716700-75717742 | NONHSAT090545 |
26 | lnc-ZNF717-1 | chr3:75716700-75717742 | ENSG00000234317 |
27 | lnc-ZNF717-1 | chr3:75719171-75721030 | NONHSAT090545 |
28 | lnc-FRG2C-3 | chr3:75486207-75486426 | XLOC_002710 |
29 | lnc-ZNF717-3 | chr3:75589200-75589378 | ENSG00000272710.1 |
30 | lnc-FRG2C-1 | chr3:75725119-75725776 | ENSG00000242516 |
31 | lnc-FRG2C-3 | chr3:75492659-75492775 | XLOC_002710 |
32 | lnc-FRG2C-3 | chr3:75501348-75501809 | ENSG00000272690.1 |
33 | lnc-FRG2C-1 | chr3:75723564-75725031 | ENSG00000242516 |
34 | lnc-FRG2C-3 | chr3:75488905-75488997 | XLOC_002710 |
35 | lnc-FRG2C-3 | chr3:75485928-75486426 | XLOC_002710 |
36 | lnc-FRG2C-2 | chr3:75606117-75606146 | XLOC_002712 |
37 | lnc-FRG2C-2 | chr3:75608026-75608433 | XLOC_002712 |
38 | lnc-FRG2C-3 | chr3:75496316-75496447 | ENSG00000272690.1 |
39 | lnc-ZNF717-2 | chr3:75695572-75695597 | XLOC_003164 |
40 | lnc-ZNF717-1 | chr3:75674122-75674304 | NONHSAT090540 |
41 | lnc-ZNF717-1 | chr3:75719171-75721122 | ENSG00000234317 |
42 | lnc-FRG2C-10 | chr3:75691156-75691895 | NONHSAT090542 |
43 | lnc-ZNF717-2 | chr3:75691158-75691575 | XLOC_003164 |
miRNA name | Chromosome Location | mirBase accession |
---|---|---|
hsa-miR-1324 | chr3:75679974-75679997 | MIMAT0005956 |
No data |
Variant related genes | Relation type |
---|---|
UNC93B3 | TF binding region |
FRG2C | TF binding region |
ENSG00000243422 | TF binding region |
ENSG00000239383 | TF binding region |
OR7E66P | TF binding region |
LINC00960 | TF binding region |
RPS3AP15 | TF binding region |
ENSG00000243794 | TF binding region |
OR7E121P | TF binding region |
RARRES2P1 | TF binding region |
ENSG00000272690 | TF binding region |
FAM86DP | TF binding region |
ENSG00000266685 | TF binding region |
ENSG00000242953 | TF binding region |
OR7E55P | TF binding region |
ENSG00000221602 | TF binding region |
AGGF1P3 | TF binding region |
OR7E22P | TF binding region |
LSP1P2 | TF binding region |
RN7SL92P | TF binding region |
ENSG00000263782 | TF binding region |
ENPP7P2 | TF binding region |
ALG1L6P | TF binding region |
ENSG00000236138 | TF binding region |
ENSG00000244699 | TF binding region |
ENSG00000272710 | TF binding region |
MIR1324 | TF binding region |
UNC93B3 | CpG island |
FRG2C | CpG island |
ENSG00000243422 | CpG island |
ENSG00000239383 | CpG island |
OR7E66P | CpG island |
LINC00960 | CpG island |
RPS3AP15 | CpG island |
ENSG00000243794 | CpG island |
OR7E121P | CpG island |
RARRES2P1 | CpG island |
ENSG00000272690 | CpG island |
FAM86DP | CpG island |
ENSG00000266685 | CpG island |
ENSG00000242953 | CpG island |
OR7E55P | CpG island |
ENSG00000221602 | CpG island |
AGGF1P3 | CpG island |
OR7E22P | CpG island |
LSP1P2 | CpG island |
RN7SL92P | CpG island |
ENSG00000263782 | CpG island |
ENPP7P2 | CpG island |
ALG1L6P | CpG island |
ENSG00000236138 | CpG island |
ENSG00000244699 | CpG island |
ENSG00000272710 | CpG island |
MIR1324 | CpG island |
ENSG00000251287 | chromatin interactions |
ENSG00000158483 | chromatin interactions |
ENSG00000212195 | chromatin interactions |
ENSG00000232815 | chromatin interactions |
ENSG00000168298 | chromatin interactions |
ENSG00000236829 | chromatin interactions |
ENSG00000129925 | chromatin interactions |
ENSG00000248243 | chromatin interactions |
ITGB1 | miRNA target sites |
SFRS5 | miRNA target sites |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs41533345 | chr3:75393730-75393731 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
2 | rs926069 | chr3:75393755-75393756 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs556573796 | chr3:75393788-75393789 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs79022375 | chr3:75393805-75393806 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs537589808 | chr3:75393813-75393814 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs577842378 | chr3:75393814-75393815 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs370162797 | chr3:75393819-75393820 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs557029798 | chr3:75393830-75393831 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs186440219 | chr3:75393833-75393834 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs75510685 | chr3:75393835-75393836 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs542314814 | chr3:75393844-75393845 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs560951321 | chr3:75393850-75393851 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs531198928 | chr3:75393858-75393859 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs142785405 | chr3:75393889-75393890 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs1811802 | chr3:75393916-75393917 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
16 | rs532383444 | chr3:75393943-75393944 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs191740327 | chr3:75393953-75393954 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs565832312 | chr3:75393967-75393968 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs1811801 | chr3:75393969-75393970 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
20 | rs147406585 | chr3:75393979-75393980 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs137960134 | chr3:75393982-75393983 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs370659442 | chr3:75394071-75394072 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs141706116 | chr3:75394093-75394094 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs577930699 | chr3:75394109-75394110 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs540929955 | chr3:75394139-75394140 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs7429077 | chr3:75394168-75394169 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
27 | rs553951371 | chr3:75394194-75394195 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs139480326 | chr3:75394223-75394224 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs368365611 | chr3:75394245-75394246 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs12496616 | chr3:75394265-75394266 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
31 | rs527854415 | chr3:75394319-75394320 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs183654402 | chr3:75394337-75394338 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs112479934 | chr3:75394346-75394347 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs187183403 | chr3:75394347-75394348 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs190861858 | chr3:75394413-75394414 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs559627492 | chr3:75394439-75394440 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs182380467 | chr3:75394451-75394452 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs549480959 | chr3:75394462-75394463 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs567636135 | chr3:75394487-75394488 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs186912380 | chr3:75394507-75394508 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs149845685 | chr3:75394516-75394517 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs571263059 | chr3:75394572-75394573 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs191373146 | chr3:75394577-75394578 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs554037108 | chr3:75394581-75394582 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs371699361 | chr3:75394617-75394618 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs375770850 | chr3:75394623-75394624 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs536424192 | chr3:75394636-75394637 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs367626713 | chr3:75394642-75394643 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs183199649 | chr3:75394648-75394649 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs188255939 | chr3:75394654-75394655 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Acute myeloid leukemia | 20729466 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Melanoma | 18172304 | CNVD |
head and neck squamous cell carcinoma | 17671120 | CNVD |
Insulin resistance | 16721378 | CNVD |
Neuroblastoma | 18664255 | CNVD |
Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
Multiple myeloma | 17077331 | CNVD |
Oral squamous cell carcinoma | 17134496 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Neuroblastoma | 21484798 | CNVD |
Non-small cell lung cancer | 21044232 | CNVD |
Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
Oral cancer | 19627613 | CNVD |
Renal cell carcinoma | 19461508 | CNVD |
Epithelial cancer | 22065749 | CNVD |
Acute lymphoblastic leukemia | 21390130 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Liposarcoma | 21253554 | CNVD |
Basal cell lymphoma | 21115979 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Pancreatic endocrine tumor | 20981439 | CNVD |
Astrocytoma | 17387387 | CNVD |
Breast cancer | 21264507 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 17387387 | CNVD |
Oral cancer | 21386901 | CNVD |
Cutaneous squamous cell carcinomas | 19131950 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Basal cell lymphoma | 17053054 | CNVD |
Esophageal cancer | 21851588 | CNVD |
Uveal melanoma | 21693616 | CNVD |
Retinoblastoma | 21504564 | CNVD |
Renal cell carcinoma | 21668985 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Lung cancer | 18438408 | CNVD |
Intellectual disability | 22102821 | CNVD |
Breast cancer | 17603634 | CNVD |
Esophageal cancer | 20955586 | CNVD |
Uveal melanoma | 20484589 | CNVD |
Autism | 22495311 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
Hirschsprung''s Disease | 21712996 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Cancer | 21183584 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Bipolar disorder | 20877625 | CNVD |
Bipolar disorder | 21956041 | CNVD |
Bipolar disorder | 22241247 | CNVD |
Biliary cancer | 18923514 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Prostate cancer | 21965145 | CNVD |
Cancer | 21129771 | CNVD |
Congenital diaphragmatic hernia | 21085971 | CNVD |
Cervical cancer | 21062161 | CNVD |
Squamous cell cancer | 20885788 | CNVD |
Autism | 22102821 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Acute lymphoblastic leukemia | 18458336 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Cancer | 20164919 | CNVD |
Acute lymphoblastic leukemia | 21339820 | CNVD |
Prostate cancer | 18632612 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Bipolar disorder | 18458673 | CNVD |
Breast cancer | 22032731 | CNVD |
Wilms tumour | 21544195 | CNVD |
Breast cancer | 21509527 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Schizophrenia | 21399695 | CNVD |
Splenic marginal zone lymphoma | 21957467 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
Soft tissue tumor | 16732325 | CNVD |
Chronic lymphocytic leukemia | 20421269 | CNVD |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
Ovarian cancer | 21720365 | CNVD |
Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
Breast cancer | 22522925 | CNVD |
Schizophrenia | 20967226 | CNVD |
early-passage human iPS cells | 21368824 | CNVD |
Williams Syndrome | 20824207 | CNVD |
Melanoma | 20877625 | CNVD |
Ollier disease | 21235737 | CNVD |
Non-syndromic sensorineural hearing loss | 22297974 | CNVD |
Ovarian clear cell carcinoma | 21343371 | CNVD |
Breast cancer | 21858162 | CNVD |
Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
Non-syndromic sensorineural hearing loss | 19587683 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr3:75391000-75400600 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
2 | chr3:75393200-75395000 | Enhancers | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
3 | chr3:75394400-75394600 | Enhancers | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
4 | chr3:75399400-75400800 | Enhancers | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
5 | chr3:75400600-75400800 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
6 | chr3:75400800-75401800 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
7 | chr3:75403200-75403600 | Enhancers | Stomach Mucosa | stomach |
8 | chr3:75411000-75411400 | Enhancers | Breast Myoepithelial Primary Cells | Breast |
9 | chr3:75411000-75412000 | Enhancers | Rectal Mucosa Donor 31 | rectum |
10 | chr3:75411000-75412200 | Enhancers | Pancreas | Pancrea |
11 | chr3:75411000-75413400 | Enhancers | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
12 | chr3:75411200-75411600 | Enhancers | H1 Cell Line | embryonic stem cell |
13 | chr3:75411200-75411600 | Enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |
14 | chr3:75411600-75412400 | Enhancers | Placenta | Placenta |
15 | chr3:75411600-75412800 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
16 | chr3:75411800-75412200 | Enhancers | H1 Cell Line | embryonic stem cell |
17 | chr3:75412000-75413400 | Enhancers | Stomach Mucosa | stomach |
18 | chr3:75413000-75413200 | Enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |
19 | chr3:75420200-75421800 | Enhancers | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
20 | chr3:75421400-75423000 | Enhancers | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
21 | chr3:75421800-75422600 | Active TSS | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
22 | chr3:75422000-75422200 | Flanking Active TSS | Osteobl | bone |
23 | chr3:75422000-75422400 | Enhancers | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
24 | chr3:75422000-75422400 | Active TSS | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
25 | chr3:75422000-75423000 | Enhancers | Foreskin Fibroblast Primary Cells skin01 | Skin |
26 | chr3:75422200-75422800 | Enhancers | Osteobl | bone |
27 | chr3:75422600-75423000 | Flanking Active TSS | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
28 | chr3:75423000-75423600 | Enhancers | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
29 | chr3:75427600-75427800 | Enhancers | Fetal Lung | lung |
30 | chr3:75427800-75428000 | Enhancers | Fetal Heart | heart |
31 | chr3:75427800-75428200 | Enhancers | Fetal Muscle Leg | muscle |
32 | chr3:75427800-75429000 | Weak transcription | Fetal Lung | lung |
33 | chr3:75428000-75429000 | Weak transcription | Fetal Heart | heart |
34 | chr3:75429000-75429200 | Enhancers | Fetal Lung | lung |
35 | chr3:75429000-75429600 | Enhancers | Fetal Heart | heart |
36 | chr3:75429000-75429600 | Enhancers | Gastric | stomach |
37 | chr3:75429000-75429800 | ZNF genes & repeats | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
38 | chr3:75429000-75429800 | ZNF genes & repeats | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
39 | chr3:75429000-75429800 | ZNF genes & repeats | Fetal Kidney | kidney |
40 | chr3:75429000-75429800 | Enhancers | Pancreas | Pancrea |
41 | chr3:75429200-75429800 | ZNF genes & repeats | H1 Derived Mesenchymal Stem Cells | ES cell derived |
42 | chr3:75429200-75429800 | ZNF genes & repeats | iPS DF 6.9 Cell Line | embryonic stem cell |
43 | chr3:75429200-75429800 | Active TSS | Fetal Lung | lung |
44 | chr3:75429200-75429800 | ZNF genes & repeats | Dnd41 | blood |
45 | chr3:75429400-75429800 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
46 | chr3:75429600-75429800 | Bivalent Enhancer | Foreskin Melanocyte Primary Cells skin01 | Skin |
47 | chr3:75429800-75430200 | Weak transcription | iPS DF 6.9 Cell Line | embryonic stem cell |
48 | chr3:75429800-75445600 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
49 | chr3:75430000-75430200 | Weak transcription | Fetal Kidney | kidney |
50 | chr3:75431600-75431800 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |