Variant report
Variant | nsv880452 |
---|---|
Chromosome Location | chr4:187916497-188492766 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:1487)
- CpG islands (count:3726)
- Chromatin interactive region (count:51)
- LncRNA region (count:69)
- 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 | chr4:188172278-188172408 | HepG2 | liver: | n/a | n/a |
2 | BACH1 | chr4:188009756-188009863 | H1-hESC | embryonic stem cell: | n/a | n/a |
3 | BACH1 | chr4:188413248-188413433 | K562 | blood: | n/a | chr4:188413338-188413352 |
4 | BACH1 | chr4:187938365-187938620 | H1-hESC | embryonic stem cell: | n/a | n/a |
5 | BACH1 | chr4:188008250-188008420 | K562 | blood: | n/a | n/a |
6 | BACH1 | chr4:188129816-188130163 | H1-hESC | embryonic stem cell: | n/a | n/a |
7 | BACH1 | chr4:188068202-188068264 | K562 | blood: | n/a | n/a |
8 | BACH1 | chr4:188129825-188130039 | K562 | blood: | n/a | n/a |
9 | BCL3 | chr4:188193059-188193371 | GM12878 | blood: | n/a | n/a |
10 | BHLHE40 | chr4:188343966-188344142 | K562 | blood: | n/a | n/a |
11 | BHLHE40 | chr4:188078752-188079118 | K562 | blood: | n/a | n/a |
12 | BHLHE40 | chr4:188162982-188163057 | A549 | lung: | n/a | n/a |
13 | CBX3 | chr4:188301159-188301792 | HCT-116 | colon: | n/a | n/a |
14 | CEBPB | chr4:188100977-188101137 | H1-hESC | embryonic stem cell: | n/a | n/a |
15 | CEBPB | chr4:188254340-188254476 | A549 | lung: | n/a | chr4:188254404-188254415 |
16 | CEBPB | chr4:188146498-188146805 | IMR90 | lung: | n/a | n/a |
17 | CEBPB | chr4:188337413-188337766 | Hela-S3 | cervix: | n/a | chr4:188337610-188337621 chr4:188337669-188337677 |
18 | CEBPB | chr4:188148708-188148996 | IMR90 | lung: | n/a | n/a |
19 | CEBPB | chr4:188317722-188317931 | HepG2 | liver: | n/a | chr4:188317842-188317853 chr4:188317842-188317855 chr4:188317839-188317856 |
20 | CEBPB | chr4:188337419-188337771 | IMR90 | lung: | n/a | chr4:188337610-188337621 chr4:188337669-188337677 |
21 | CEBPB | chr4:188152008-188152230 | K562 | blood: | n/a | chr4:188152090-188152101 chr4:188152090-188152103 chr4:188152092-188152103 chr4:188152092-188152101 |
22 | CEBPB | chr4:187923422-187923659 | HepG2 | liver: | n/a | chr4:187923465-187923476 |
23 | CEBPB | chr4:188158510-188158761 | A549 | lung: | n/a | n/a |
24 | CEBPB | chr4:188153348-188153608 | IMR90 | lung: | n/a | n/a |
25 | CEBPB | chr4:188223685-188224011 | IMR90 | lung: | n/a | n/a |
26 | CEBPB | chr4:188026988-188027296 | A549 | lung: | n/a | chr4:188027103-188027114 |
27 | CEBPB | chr4:188405764-188405895 | H1-hESC | embryonic stem cell: | n/a | chr4:188405878-188405889 chr4:188405877-188405890 |
28 | CEBPB | chr4:188492567-188492769 | HepG2 | liver: | n/a | chr4:188492666-188492677 |
29 | CEBPB | chr4:188399632-188400363 | IMR90 | lung: | n/a | n/a |
30 | CEBPB | chr4:188151952-188152262 | HepG2 | liver: | n/a | chr4:188152090-188152101 chr4:188152090-188152103 chr4:188152092-188152103 chr4:188152230-188152243 chr4:188152092-188152101 |
31 | CEBPB | chr4:187949036-187949236 | HepG2 | liver: | n/a | n/a |
32 | CEBPB | chr4:188190202-188190454 | HepG2 | liver: | n/a | n/a |
33 | CEBPB | chr4:188440459-188440698 | IMR90 | lung: | n/a | n/a |
34 | CEBPB | chr4:188158488-188158792 | HepG2 | liver: | n/a | n/a |
35 | CEBPB | chr4:188406167-188406450 | A549 | lung: | n/a | n/a |
36 | CEBPB | chr4:188440289-188440620 | HepG2 | liver: | n/a | n/a |
37 | CEBPB | chr4:188309832-188310058 | IMR90 | lung: | n/a | chr4:188309977-188309986 |
38 | CEBPB | chr4:188063266-188063464 | H1-hESC | embryonic stem cell: | n/a | n/a |
39 | CEBPB | chr4:187923364-187923655 | A549 | lung: | n/a | chr4:187923465-187923476 |
40 | CEBPB | chr4:188492564-188492757 | K562 | blood: | n/a | chr4:188492666-188492677 |
41 | CEBPB | chr4:187923457-187923475 | K562 | blood: | n/a | n/a |
42 | CEBPB | chr4:188405573-188406437 | IMR90 | lung: | n/a | chr4:188405878-188405889 chr4:188405683-188405696 chr4:188405685-188405696 chr4:188405877-188405890 |
43 | CEBPB | chr4:188026960-188027208 | K562 | blood: | n/a | chr4:188027103-188027114 |
44 | CEBPB | chr4:188337469-188337769 | A549 | lung: | n/a | chr4:188337610-188337621 chr4:188337669-188337677 |
45 | CEBPB | chr4:188263083-188263269 | HepG2 | liver: | n/a | n/a |
46 | CEBPB | chr4:188018970-188019044 | HepG2 | liver: | n/a | chr4:188018994-188019005 |
47 | CEBPB | chr4:187996652-187996971 | IMR90 | lung: | n/a | n/a |
48 | CEBPB | chr4:188349162-188349196 | H1-hESC | embryonic stem cell: | n/a | chr4:188349183-188349194 |
49 | CEBPB | chr4:188254417-188254534 | K562 | blood: | n/a | n/a |
50 | CEBPB | chr4:187967672-187967719 | HepG2 | liver: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr4:188462685-188462735 | PANC-1 | pancreas: | n/a |
2 | chr4:188097774-188097824 | GM06990 | blood: | n/a |
3 | chr4:187998952-187999002 | HEEpiC | esophagus: | n/a |
4 | chr4:187984718-187984768 | H1-hESC | embryonic stem cell: | embryo |
5 | chr4:188131622-188131672 | Hela-S3 | cervix: | n/a |
6 | chr4:188462685-188462735 | PANC-1 | pancreas: | n/a |
7 | chr4:188097774-188097824 | GM06990 | blood: | n/a |
8 | chr4:187998952-187999002 | HEEpiC | esophagus: | n/a |
9 | chr4:187984718-187984768 | H1-hESC | embryonic stem cell: | embryo |
10 | chr4:188131622-188131672 | Hela-S3 | cervix: | n/a |
11 | chr4:188046350-188046400 | HEK293 | kidney: | embryo |
12 | chr4:187988456-187988506 | U87 | brain: | n/a |
13 | chr4:188097683-188097733 | LNCaP | prostate: | n/a |
14 | chr4:188256637-188256687 | HIPEpiC | eye: | n/a |
15 | chr4:188045689-188045739 | GM12878 | blood: | n/a |
16 | chr4:187982852-187982902 | Jurkat | blood: | n/a |
17 | chr4:188139877-188139927 | T-47D | breast: | n/a |
18 | chr4:188256708-188256758 | BJ | skin: | n/a |
19 | chr4:188097774-188097824 | HUVEC | blood vessel: | n/a |
20 | chr4:188104526-188104576 | HRPEpiC | eye: | n/a |
21 | chr4:187927166-187927216 | Caco-2 | colon: | n/a |
22 | chr4:188045495-188045545 | HUVEC | blood vessel: | n/a |
23 | chr4:187927166-187927216 | Hepatocyte | liver: | n/a |
24 | chr4:188462685-188462735 | HPAEpiC | pulmonary alveolar: | n/a |
25 | chr4:187984958-187985008 | NHBE | bronchial: | n/a |
26 | chr4:188045368-188045418 | ECC-1 | luminal epithelium: | n/a |
27 | chr4:187987293-187987343 | SKMC | muscle: | n/a |
28 | chr4:188045495-188045545 | NHDF-neo | bronchial: | n/a |
29 | chr4:188078670-188078720 | K562 | blood: | n/a |
30 | chr4:188426437-188426487 | HMEC | breast: | n/a |
31 | chr4:188427966-188428016 | HNPCEpiC | eye: | n/a |
32 | chr4:187984958-187985008 | AG10803 | skin: | n/a |
33 | chr4:187984958-187985008 | SAEC | small airway: | n/a |
34 | chr4:188256637-188256687 | SK-N-SH_RA | brain: | n/a |
35 | chr4:188391387-188391437 | ECC-1 | luminal epithelium: | n/a |
36 | chr4:188047315-188047365 | ProgFib | skin: | n/a |
37 | chr4:188139877-188139927 | AG10803 | skin: | n/a |
38 | chr4:188009477-188009527 | Caco-2 | colon: | n/a |
39 | chr4:188190184-188190234 | AoSMC | blood vessel: | n/a |
40 | chr4:188398437-188398487 | SK-N-SH | brain: | n/a |
41 | chr4:187984633-187984683 | NB4 | blood: | n/a |
42 | chr4:187984718-187984768 | NB4 | blood: | n/a |
43 | chr4:188149410-188149460 | HCPEpiC | choroid plexus: | n/a |
44 | chr4:188190184-188190234 | HRCEpiC | kidney: | n/a |
45 | chr4:187988456-187988506 | HAEpiC | amniotic membrane: | n/a |
46 | chr4:188208070-188208120 | ProgFib | skin: | n/a |
47 | chr4:187984506-187984556 | Jurkat | blood: | n/a |
48 | chr4:188078670-188078720 | HRE | kidney: | n/a |
49 | chr4:188401038-188401088 | PANC-1 | pancreas: | n/a |
50 | chr4:188097683-188097733 | HRE | kidney: | n/a |
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr4:188169327..188171194-chr4:188181076..188182965,2 | K562 | blood: | |
2 | chr4:188361387..188363227-chr4:188363317..188365027,2 | K562 | blood: | |
3 | chr4:187910556..187913594-chr4:187916872..187920065,3 | K562 | blood: | |
4 | chr4:187939165..187941494-chr4:187941726..187943652,2 | K562 | blood: | |
5 | chr4:188379432..188382221-chr4:188385756..188387515,2 | K562 | blood: | |
6 | chr4:188136808..188139497-chr4:188168223..188169981,2 | K562 | blood: | |
7 | chr4:188056141..188059135-chr4:188062494..188064650,2 | K562 | blood: | |
8 | chr4:187647654..187649416-chr4:188063013..188065311,2 | MCF-7 | breast: | |
9 | chr4:188343831..188346613-chr4:188349550..188352474,2 | K562 | blood: | |
10 | chr4:188390078..188391598-chr8:43091410..43092931,3 | MCF-7 | breast: | |
11 | chr4:188261472..188262979-chr4:188266588..188269425,2 | K562 | blood: | |
12 | chr4:188278385..188280812-chr4:188281318..188282901,2 | K562 | blood: | |
13 | chr4:188083083..188085833-chr4:188087348..188090241,2 | MCF-7 | breast: | |
14 | chr4:188424251..188426259-chr4:188431828..188433769,2 | MCF-7 | breast: | |
15 | chr4:188360438..188363227-chr4:188363317..188366717,3 | K562 | blood: | |
16 | chr4:188016055..188017615-chr4:188020801..188022830,2 | MCF-7 | breast: | |
17 | chr4:188278385..188280812-chr4:188281318..188282901,2 | K562 | blood: | |
18 | chr4:188127890..188130779-chr4:188137377..188140053,2 | K562 | blood: | |
19 | chr4:188082742..188084382-chr4:188084801..188086705,2 | K562 | blood: | |
20 | chr4:188169327..188171194-chr4:188181076..188182965,2 | K562 | blood: | |
21 | chr4:188177128..188179488-chr4:188187474..188190252,2 | MCF-7 | breast: | |
22 | chr4:188021348..188024236-chr4:188025948..188027821,2 | K562 | blood: | |
23 | chr4:187645367..187647070-chr4:188073656..188075512,2 | K562 | blood: | |
24 | chr4:188379432..188382221-chr4:188385756..188387515,2 | K562 | blood: | |
25 | chr4:187987739..187989795-chr4:187999500..188002033,2 | MCF-7 | breast: | |
26 | chr4:188361387..188363227-chr4:188363317..188365027,2 | K562 | blood: | |
27 | chr4:188056141..188059135-chr4:188062494..188064650,2 | K562 | blood: | |
28 | chr4:187646533..187648100-chr4:188156626..188159035,2 | MCF-7 | breast: | |
29 | chr4:188021348..188024236-chr4:188025948..188027821,2 | K562 | blood: | |
30 | chr4:188100330..188101980-chr4:188105667..188107214,2 | K562 | blood: | |
31 | chr4:188177128..188179488-chr4:188187474..188190252,2 | MCF-7 | breast: | |
32 | chr4:188391078..188391578-chr8:43092429..43092931,2 | MCF-7 | breast: | |
33 | chr4:188127890..188131303-chr4:188136198..188140053,3 | K562 | blood: | |
34 | chr4:188127890..188131303-chr4:188136198..188140053,3 | K562 | blood: | |
35 | chr4:188016055..188017615-chr4:188020801..188022830,2 | MCF-7 | breast: | |
36 | chr4:188261472..188262979-chr4:188266588..188269425,2 | K562 | blood: | |
37 | chr4:187987739..187989795-chr4:187999500..188002033,2 | MCF-7 | breast: | |
38 | chr4:188218935..188220617-chr4:188223273..188225640,2 | K562 | blood: | |
39 | chr4:188077660..188079789-chr4:188085671..188087696,2 | K562 | blood: | |
40 | chr4:188082742..188084382-chr4:188084801..188086705,2 | K562 | blood: | |
41 | chr4:188083083..188085833-chr4:188087348..188090241,2 | MCF-7 | breast: | |
42 | chr4:188424251..188426259-chr4:188431828..188433769,2 | MCF-7 | breast: | |
43 | chr4:188077660..188079789-chr4:188085671..188087696,2 | K562 | blood: | |
44 | chr4:188343831..188346613-chr4:188349550..188352474,2 | K562 | blood: | |
45 | chr4:188127890..188130779-chr4:188137377..188140053,2 | K562 | blood: | |
46 | chr4:188066477..188068496-chr4:188071988..188074466,2 | K562 | blood: | |
47 | chr4:188426813..188429681-chrX:150150480..150152156,2 | MCF-7 | breast: | |
48 | chr4:188100330..188101980-chr4:188105667..188107214,2 | K562 | blood: | |
49 | chr4:188136808..188139497-chr4:188168223..188169981,2 | K562 | blood: | |
50 | chr4:188218935..188220617-chr4:188223273..188225640,2 | K562 | blood: |
No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-F11-3 | chr4:187980530-187980856 | XLOC_003823 |
2 | lnc-F11-3 | chr4:187980278-187980644 | NONHSAT099680 |
3 | lnc-ZFP42-5 | chr4:188336464-188337128 | NONHSAT099694 |
4 | lnc-ZFP42-12 | chr4:188370524-188371133 | l_2817_chr4:188360138-188372335_testes |
5 | lnc-ZFP42-4 | chr4:188351216-188351539 | XLOC_003828 |
6 | lnc-FAT1-1 | chr4:187917410-187917592 | XLOC_004215 |
7 | lnc-TRIML2-4 | chr4:188476930-188477058 | ENSG00000250590 |
8 | lnc-TRIML2-12 | chr4:188364017-188364135 | NONHSAT099697 |
9 | lnc-F11-3 | chr4:187981829-187982019 | NONHSAT099680 |
10 | lnc-ZFP42-7 | chr4:188133530-188134139 | XLOC_003825 |
11 | lnc-ZFP42-7 | chr4:188123187-188123296 | XLOC_003825 |
12 | lnc-F11-3 | chr4:187980348-187980402 | XLOC_003823 |
13 | lnc-TRIML2-12 | chr4:188364965-188365452 | NONHSAT099697 |
14 | lnc-ZFP42-13 | chr4:188252448-188253478 | NONHSAT099691 |
15 | lnc-ZFP42-7 | chr4:188130341-188130500 | XLOC_003825 |
16 | lnc-ZFP42-13 | chr4:188251486-188251546 | NONHSAT099691 |
17 | lnc-ZFP42-13 | chr4:188228509-188228694 | NONHSAT099691 |
18 | lnc-F11-4 | chr4:187981829-187982084 | XLOC_003824 |
19 | lnc-ZFP42-13 | chr4:188237423-188237596 | NONHSAT099691 |
20 | lnc-ZFP42-7 | chr4:188134283-188135298 | XLOC_003825 |
21 | lnc-TRIML2-4 | chr4:188454036-188454357 | ENSG00000250590 |
22 | lnc-ZFP42-7 | chr4:188123140-188123296 | XLOC_003825 |
23 | lnc-TRIML2-5 | chr4:188437307-188437878 | XLOC_004219 |
24 | lnc-ZFP42-12 | chr4:188371277-188372335 | l_2817_chr4:188360138-188372335_testes |
25 | lnc-F11-4 | chr4:187981253-187981417 | XLOC_003824 |
26 | lnc-ZFP42-7 | chr4:188123217-188123296 | XLOC_003825 |
27 | lnc-TRIML2-4 | chr4:188479231-188479418 | ENSG00000250590 |
28 | lnc-FAT1-3 | chr4:188228260-188228423 | XLOC_004217 |
29 | lnc-TRIML2-4 | chr4:188454032-188454357 | ENSG00000250590 |
30 | lnc-ZFP42-5 | chr4:188334718-188334865 | ENSG00000250620 |
31 | lnc-ZFP42-6 | chr4:188292449-188292580 | XLOC_003826 |
32 | lnc-TRIML2-12 | chr4:188362831-188363446 | NONHSAT099697 |
33 | lnc-ZFP42-6 | chr4:188292838-188293075 | XLOC_003826 |
34 | lnc-FAT1-1 | chr4:187943080-187943127 | XLOC_004215 |
35 | lnc-ZFP42-7 | chr4:188129941-188130201 | XLOC_003825 |
36 | lnc-ZFP42-7 | chr4:188134283-188134753 | NONHSAT099688 |
37 | lnc-TRIML2-4 | chr4:188454032-188454357 | ENSG00000250590 |
38 | lnc-ZFP42-4 | chr4:188343853-188344622 | NONHSAT099695 |
39 | lnc-ZFP42-6 | chr4:188291802-188291929 | XLOC_003826 |
40 | lnc-ZFP42-5 | chr4:188336464-188336851 | ENSG00000250620 |
41 | lnc-FAT1-3 | chr4:188225237-188225621 | XLOC_004217 |
42 | lnc-ZFP42-11 | chr4:188419171-188419708 | NONHSAT099698 |
43 | lnc-ZFP42-7 | chr4:188133530-188133630 | XLOC_003825 |
44 | lnc-F11-3 | chr4:187981371-187981417 | NONHSAT099680 |
45 | lnc-FAT1-2 | chr4:188122781-188123084 | XLOC_004216 |
46 | lnc-ZFP42-5 | chr4:188329695-188330053 | NONHSAT099694 |
47 | lnc-TRIML2-4 | chr4:188479391-188479418 | NONHSAT099704 |
48 | lnc-ZFP42-5 | chr4:188334716-188334865 | NONHSAT099694 |
49 | lnc-ZFP42-4 | chr4:188344049-188344151 | XLOC_003828 |
50 | lnc-TRIML2-4 | chr4:188478901-188479074 | ENSG00000250590 |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000251490 | TF binding region |
ENSG00000251643 | TF binding region |
ENSG00000250620 | TF binding region |
ENSG00000250042 | TF binding region |
ENSG00000250590 | TF binding region |
ENSG00000249747 | TF binding region |
ENSG00000250971 | TF binding region |
ENSG00000249742 | TF binding region |
ENSG00000250658 | TF binding region |
ENSG00000251490 | CpG island |
ENSG00000251643 | CpG island |
ENSG00000250620 | CpG island |
ENSG00000250042 | CpG island |
ENSG00000250590 | CpG island |
ENSG00000249747 | CpG island |
ENSG00000250971 | CpG island |
ENSG00000249742 | CpG island |
ENSG00000250658 | CpG island |
ENSG00000249742 | chromatin interactions |
ENSG00000083857 | chromatin interactions |
ENSG00000029993 | chromatin interactions |
ENSG00000251643 | chromatin interactions |
ANKRD57 | miRNA target sites |
LMNB1 | miRNA target sites |
CCND1 | miRNA target sites |
ANTXR1 | miRNA target sites |
UBXN1 | miRNA target sites |
ZFYVE26 | miRNA target sites |
ANP32E | miRNA target sites |
OSBPL1A | miRNA target sites |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs10026367 | chr4:187916497-187916498 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
2 | rs111518987 | chr4:187916529-187916530 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs11935239 | chr4:187916576-187916577 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
4 | rs139978588 | chr4:187916590-187916591 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs79067349 | chr4:187916622-187916623 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs572565083 | chr4:187916651-187916652 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs34008460 | chr4:187916705-187916706 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
8 | rs112384809 | chr4:187916716-187916717 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs188054617 | chr4:187916757-187916758 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs371023536 | chr4:187916780-187916781 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs193076909 | chr4:187916798-187916799 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs563409116 | chr4:187916801-187916802 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs547061015 | chr4:187916812-187916813 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs575071856 | chr4:187916822-187916823 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs57189138 | chr4:187916904-187916905 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
16 | rs149363661 | chr4:187916909-187916910 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs559302716 | chr4:187916928-187916929 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs146303732 | chr4:187916929-187916930 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs551431121 | chr4:187916966-187916967 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs115011813 | chr4:187917009-187917010 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs370801203 | chr4:187917010-187917011 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs3796649 | chr4:187917030-187917031 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
23 | rs113699239 | chr4:187917077-187917078 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs535592319 | chr4:187917078-187917079 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs112768585 | chr4:187917118-187917119 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs182970966 | chr4:187917125-187917126 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs187515835 | chr4:187917165-187917166 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs144312516 | chr4:187917194-187917195 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs192947590 | chr4:187917251-187917252 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs578246406 | chr4:187917274-187917275 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs376496113 | chr4:187917280-187917281 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs74758721 | chr4:187917284-187917285 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs539664961 | chr4:187917285-187917286 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs139934769 | chr4:187917322-187917323 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs142160457 | chr4:187917347-187917348 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs542370142 | chr4:187917454-187917455 | Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
37 | rs559393654 | chr4:187917465-187917466 | Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
38 | rs572991778 | chr4:187917471-187917472 | Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
39 | rs73873994 | chr4:187917472-187917473 | Weak transcription | lncRNA | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
40 | rs564861873 | chr4:187917498-187917499 | Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
41 | rs573208741 | chr4:187917499-187917500 | Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
42 | rs77783266 | chr4:187917509-187917510 | Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
43 | rs74759148 | chr4:187917536-187917537 | Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
44 | rs373805876 | chr4:187917549-187917550 | Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
45 | rs563350594 | chr4:187917598-187917599 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs529240874 | chr4:187917654-187917655 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs140394496 | chr4:187917656-187917657 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs566156186 | chr4:187917668-187917669 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs113392217 | chr4:187917680-187917681 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs112481617 | chr4:187917767-187917768 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Acute lymphoblastic leukemia | 22237106 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Chordoma | 21602918 | CNVD |
HIV/AIDS | 22032296 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Neuroblastoma | 18923191 | CNVD |
Breast cancer | 21858162 | CNVD |
Small bowel adenocarcinoma | 21586687 | CNVD |
Gastric cancer | 21586687 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Malignant mesothelioma | 18160781 | CNVD |
Medulloblastoma | 18056178 | CNVD |
Multiple myeloma | 17077331 | CNVD |
Pleural malignant mesothelioma | 18160781 | CNVD |
Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
Oral squamous cell carcinoma | 17134496 | CNVD |
4q-syndrome | 17576883 | CNVD |
Cancer | 21637783 | CNVD |
Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
Colorectal cancer | 20709793 | CNVD |
Muscular dystrophy | 21149563 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Breast cancer | 21264507 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Glioblastoma multiforme | 17387387 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Liposarcoma | 21253554 | CNVD |
Oligodendroglial tumors | 17285580 | CNVD |
Cervical cancer | 21062161 | CNVD |
Breast cancer | 16608533 | CNVD |
Wilms tumour | 21544195 | CNVD |
Lung cancer | 18438408 | CNVD |
Cancer | 22429812 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Breast cancer | 16272173 | CNVD |
Breast cancer | 17133270 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Congenital anomalies of the kidney and urinary tract | 20505237 | CNVD |
Testicular germ cell tumor | 18059402 | CNVD |
Ovarian cancer | 22174824 | CNVD |
Olfactory neuroblastoma | 18408657 | CNVD |
Breast cancer | 21785460 | CNVD |
Hodgkin''s lymphoma | 18641027 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
small cell lung cancer | 20016488 | CNVD |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Breast cancer | 21633010 | CNVD |
Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Cancer | 20581869 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
abnormal development | 18461090 | CNVD |
Neuroblastoma | 16790693 | CNVD |
Colorectal cancer | 16774939 | CNVD |
Congenital anomalies of the kidney and urinary tract | 18316590 | CNVD |
Basal cell lymphoma | 17053054 | CNVD |
Facioscapulohumeral muscular dystrophy | 21829175 | CNVD |
Disorders of sex development | 21048976 | CNVD |
Ovarian cancer | 20844748 | CNVD |
Autism | 18414403 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Cancer | 20164920 | CNVD |
Cancer | 20164919 | CNVD |
Breast cancer | 20409316 | CNVD |
Rhabdomyosarcoma | 16790082 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Schizophrenia | 21399695 | CNVD |
Developmental delay | 22127048 | CNVD |
Acute lymphoblastic leukemia | 21098271 | CNVD |
Cervical cancer | 21063398 | CNVD |
Oral cancer | 21386901 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Oral cancer | 17325662 | CNVD |
Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
Autism | 20808228 | CNVD |
Cognitive impairment | 21505072 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr4:187911800-187942600 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
2 | chr4:187919800-187920000 | Enhancers | H1 Derived Mesenchymal Stem Cells | ES cell derived |
3 | chr4:187920800-187921200 | Enhancers | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
4 | chr4:187920800-187921200 | Enhancers | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
5 | chr4:187920800-187921200 | Enhancers | NHLF | lung |
6 | chr4:187920800-187921400 | Enhancers | Breast Myoepithelial Primary Cells | Breast |
7 | chr4:187924000-187925400 | Enhancers | Breast Myoepithelial Primary Cells | Breast |
8 | chr4:187925400-187927000 | Weak transcription | Breast Myoepithelial Primary Cells | Breast |
9 | chr4:187926000-187928200 | Enhancers | Fetal Kidney | kidney |
10 | chr4:187926400-187927800 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
11 | chr4:187926400-187928200 | Enhancers | Foreskin Keratinocyte Primary Cells skin03 | Skin |
12 | chr4:187927000-187927400 | Enhancers | HMEC | breast |
13 | chr4:187927000-187927800 | Enhancers | Fetal Stomach | stomach |
14 | chr4:187927000-187928200 | Enhancers | Breast Myoepithelial Primary Cells | Breast |
15 | chr4:187927000-187928200 | Enhancers | Fetal Lung | lung |
16 | chr4:187927000-187928400 | Enhancers | NHEK | skin |
17 | chr4:187927000-187928800 | Enhancers | Foreskin Keratinocyte Primary Cells skin02 | Skin |
18 | chr4:187927200-187927800 | Enhancers | Rectal Smooth Muscle | rectum |
19 | chr4:187927200-187928000 | Enhancers | Osteobl | bone |
20 | chr4:187927200-187928200 | Enhancers | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
21 | chr4:187927400-187927800 | Flanking Active TSS | HMEC | breast |
22 | chr4:187927600-187928200 | Enhancers | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
23 | chr4:187927800-187928400 | Enhancers | HMEC | breast |
24 | chr4:187928000-187931200 | Weak transcription | Osteobl | bone |
25 | chr4:187928200-187931000 | Weak transcription | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
26 | chr4:187931000-187931800 | Enhancers | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
27 | chr4:187931200-187932000 | Enhancers | Fetal Adrenal Gland | Adrenal Gland |
28 | chr4:187931200-187932000 | Enhancers | Osteobl | bone |
29 | chr4:187938000-187938600 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
30 | chr4:187938200-187938600 | Enhancers | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
31 | chr4:187938200-187938600 | Enhancers | HUES48 Cell Line | embryonic stem cell |
32 | chr4:187938200-187938600 | Enhancers | HUES6 Cell Line | embryonic stem cell |
33 | chr4:187938200-187938800 | Enhancers | HUES64 Cell Line | embryonic stem cell |
34 | chr4:187938200-187939000 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
35 | chr4:187938400-187938600 | Enhancers | H1 Cell Line | embryonic stem cell |
36 | chr4:187938400-187938600 | Enhancers | hESC Derived CD56+ Mesoderm Cultured Cells | ES cell derived |
37 | chr4:187938400-187938600 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
38 | chr4:187938600-187939000 | Enhancers | Fetal Kidney | kidney |
39 | chr4:187938600-187941000 | Weak transcription | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
40 | chr4:187938600-187941000 | Weak transcription | HUES6 Cell Line | embryonic stem cell |
41 | chr4:187938800-187940800 | Weak transcription | HUES64 Cell Line | embryonic stem cell |
42 | chr4:187939000-187941000 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
43 | chr4:187939000-187942600 | Weak transcription | Fetal Kidney | kidney |
44 | chr4:187940800-187941200 | Enhancers | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
45 | chr4:187940800-187941600 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
46 | chr4:187940800-187941600 | Enhancers | HUES64 Cell Line | embryonic stem cell |
47 | chr4:187941000-187941400 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
48 | chr4:187941000-187941400 | Enhancers | H9 Cell Line | embryonic stem cell |
49 | chr4:187941000-187941400 | Enhancers | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
50 | chr4:187941000-187941400 | Enhancers | iPS-15b Cell Line | embryonic stem cell |