Variant report
Variant | nsv532746 |
---|---|
Chromosome Location | chr4:187857833-188573656 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:2604)
- CpG islands (count:5498)
- Chromatin interactive region (count:68)
- LncRNA region (count:93)
- 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 | chr4:187857788-187858659 | HepG2 | liver: | n/a | n/a |
2 | ARID3A | chr4:188172278-188172408 | HepG2 | liver: | n/a | n/a |
3 | ARID3A | chr4:188527707-188527965 | HepG2 | liver: | n/a | n/a |
4 | ARID3A | chr4:187868629-187868925 | HepG2 | liver: | n/a | n/a |
5 | ARID3A | chr4:187861751-187861928 | HepG2 | liver: | n/a | n/a |
6 | ARID3A | chr4:187867829-187868202 | HepG2 | liver: | n/a | n/a |
7 | ATF1 | chr4:188538300-188538599 | K562 | blood: | n/a | n/a |
8 | ATF1 | chr4:187861013-187861279 | K562 | blood: | n/a | n/a |
9 | ATF3 | chr4:188527774-188527903 | K562 | blood: | n/a | n/a |
10 | BACH1 | chr4:187938365-187938620 | H1-hESC | embryonic stem cell: | n/a | n/a |
11 | BACH1 | chr4:188068202-188068264 | K562 | blood: | n/a | n/a |
12 | BACH1 | chr4:188009756-188009863 | H1-hESC | embryonic stem cell: | n/a | n/a |
13 | BACH1 | chr4:188413248-188413433 | K562 | blood: | n/a | chr4:188413338-188413352 |
14 | BACH1 | chr4:187870229-187870474 | H1-hESC | embryonic stem cell: | n/a | n/a |
15 | BACH1 | chr4:188008250-188008420 | K562 | blood: | n/a | n/a |
16 | BACH1 | chr4:188129825-188130039 | K562 | blood: | n/a | n/a |
17 | BACH1 | chr4:188129816-188130163 | H1-hESC | embryonic stem cell: | n/a | n/a |
18 | BCL3 | chr4:188193059-188193371 | GM12878 | blood: | n/a | n/a |
19 | BHLHE40 | chr4:188343966-188344142 | K562 | blood: | n/a | n/a |
20 | BHLHE40 | chr4:188527838-188527964 | K562 | blood: | n/a | n/a |
21 | BHLHE40 | chr4:188162982-188163057 | A549 | lung: | n/a | n/a |
22 | BHLHE40 | chr4:187867852-187868124 | HepG2 | liver: | n/a | n/a |
23 | BHLHE40 | chr4:188538740-188538867 | K562 | blood: | n/a | n/a |
24 | BHLHE40 | chr4:188519650-188519830 | GM12878 | blood: | n/a | n/a |
25 | BHLHE40 | chr4:188534744-188534930 | K562 | blood: | n/a | n/a |
26 | BHLHE40 | chr4:188078752-188079118 | K562 | blood: | n/a | n/a |
27 | BHLHE40 | chr4:188533400-188533687 | K562 | blood: | n/a | n/a |
28 | BRCA1 | chr4:188570315-188570361 | GM12878 | blood: | n/a | n/a |
29 | CBX3 | chr4:188507537-188508612 | HCT-116 | colon: | n/a | n/a |
30 | CBX3 | chr4:188301159-188301792 | HCT-116 | colon: | n/a | n/a |
31 | CBX3 | chr4:187857745-187858737 | HCT-116 | colon: | n/a | n/a |
32 | CEBPB | chr4:188474103-188474183 | K562 | blood: | n/a | n/a |
33 | CEBPB | chr4:187863846-187864263 | HepG2 | liver: | n/a | chr4:187864080-187864091 |
34 | CEBPB | chr4:188529058-188529739 | IMR90 | lung: | n/a | n/a |
35 | CEBPB | chr4:187948947-187949293 | IMR90 | lung: | n/a | n/a |
36 | CEBPB | chr4:188301254-188301599 | MCF-7 | breast: | n/a | n/a |
37 | CEBPB | chr4:188538314-188538633 | A549 | lung: | n/a | chr4:188538447-188538458 chr4:188538481-188538492 |
38 | CEBPB | chr4:188152008-188152230 | K562 | blood: | n/a | chr4:188152090-188152101 chr4:188152090-188152103 chr4:188152092-188152103 chr4:188152092-188152101 |
39 | CEBPB | chr4:188572787-188573018 | HepG2 | liver: | n/a | chr4:188572900-188572911 |
40 | CEBPB | chr4:188026969-188027265 | IMR90 | lung: | n/a | chr4:188027103-188027114 |
41 | CEBPB | chr4:188183122-188183182 | H1-hESC | embryonic stem cell: | n/a | n/a |
42 | CEBPB | chr4:188520953-188521275 | IMR90 | lung: | n/a | chr4:188521110-188521121 |
43 | CEBPB | chr4:188309832-188310058 | IMR90 | lung: | n/a | chr4:188309977-188309986 |
44 | CEBPB | chr4:188100977-188101137 | H1-hESC | embryonic stem cell: | n/a | n/a |
45 | CEBPB | chr4:188349162-188349196 | H1-hESC | embryonic stem cell: | n/a | chr4:188349183-188349194 |
46 | CEBPB | chr4:188492567-188492769 | HepG2 | liver: | n/a | chr4:188492666-188492677 |
47 | CEBPB | chr4:188234147-188234350 | IMR90 | lung: | n/a | n/a |
48 | CEBPB | chr4:188538086-188538843 | HCT-116 | colon: | n/a | chr4:188538447-188538458 chr4:188538481-188538492 |
49 | CEBPB | chr4:188570745-188571038 | IMR90 | lung: | n/a | chr4:188570868-188570879 |
50 | CEBPB | chr4:188376676-188376735 | HepG2 | liver: | n/a | chr4:188376676-188376689 chr4:188376676-188376687 chr4:188376678-188376689 |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr4:188045368-188045418 | HIPEpiC | eye: | n/a |
2 | chr4:188078724-188078774 | SK-N-MC | brain: | n/a |
3 | chr4:187892539-187892589 | MCF-7 | breast: | n/a |
4 | chr4:188156675-188156725 | RPTEC | kidney: | n/a |
5 | chr4:188078724-188078774 | Hela-S3 | cervix: | n/a |
6 | chr4:187987206-187987256 | A549 | lung: | n/a |
7 | chr4:188534448-188534498 | ProgFib | skin: | n/a |
8 | chr4:188401038-188401088 | ovcar-3 | ovarian: | n/a |
9 | chr4:188045368-188045418 | HIPEpiC | eye: | n/a |
10 | chr4:188078724-188078774 | SK-N-MC | brain: | n/a |
11 | chr4:187892539-187892589 | MCF-7 | breast: | n/a |
12 | chr4:188156675-188156725 | RPTEC | kidney: | n/a |
13 | chr4:188078724-188078774 | Hela-S3 | cervix: | n/a |
14 | chr4:187987206-187987256 | A549 | lung: | n/a |
15 | chr4:188534448-188534498 | ProgFib | skin: | n/a |
16 | chr4:188401038-188401088 | ovcar-3 | ovarian: | n/a |
17 | chr4:188046444-188046494 | GM12878 | blood: | n/a |
18 | chr4:188538807-188538857 | SK-N-SH | brain: | n/a |
19 | chr4:187998952-187999002 | AG04449 | skin: | fetal |
20 | chr4:187988456-187988506 | SK-N-MC | brain: | n/a |
21 | chr4:188256765-188256815 | NH-A | brain: | n/a |
22 | chr4:188046520-188046570 | GM12891 | blood: | n/a |
23 | chr4:188530842-188530892 | BJ | skin: | n/a |
24 | chr4:187882934-187882984 | GM12892 | blood: | n/a |
25 | chr4:188156703-188156753 | HRCEpiC | kidney: | n/a |
26 | chr4:187981566-187981616 | Hepatocyte | liver: | n/a |
27 | chr4:188078789-188078839 | PFSK-1 | brain: | n/a |
28 | chr4:188097683-188097733 | HCM | heart: | n/a |
29 | chr4:187882934-187882984 | HL-60 | blood: | n/a |
30 | chr4:187927166-187927216 | HUVEC | blood vessel: | n/a |
31 | chr4:188427966-188428016 | HNPCEpiC | eye: | n/a |
32 | chr4:188428637-188428687 | HAEpiC | amniotic membrane: | n/a |
33 | chr4:187982852-187982902 | HIPEpiC | eye: | n/a |
34 | chr4:187985253-187985303 | NH-A | brain: | n/a |
35 | chr4:188101115-188101165 | ProgFib | skin: | n/a |
36 | chr4:188140291-188140341 | ProgFib | skin: | n/a |
37 | chr4:187869873-187869923 | MCF-7 | breast: | n/a |
38 | chr4:188131622-188131672 | HNPCEpiC | eye: | n/a |
39 | chr4:188045368-188045418 | GM12892 | blood: | n/a |
40 | chr4:188230390-188230440 | HRPEpiC | eye: | n/a |
41 | chr4:188045689-188045739 | PFSK-1 | brain: | n/a |
42 | chr4:188426437-188426487 | HEK293 | kidney: | embryo |
43 | chr4:187880263-187880313 | HNPCEpiC | eye: | n/a |
44 | chr4:187877218-187877268 | ProgFib | skin: | n/a |
45 | chr4:188530842-188530892 | SK-N-MC | brain: | n/a |
46 | chr4:187985472-187985522 | NHBE | bronchial: | n/a |
47 | chr4:188534693-188534743 | SKMC | muscle: | n/a |
48 | chr4:187884817-187884867 | IMR90 | lung: | fetal |
49 | chr4:187864009-187864059 | Jurkat | blood: | n/a |
50 | chr4:188256765-188256815 | AG04450 | lung: | fetal |
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr4:188426813..188429681-chrX:150150480..150152156,2 | MCF-7 | breast: | |
2 | chr4:187867684..187870026-chr4:187872421..187875152,2 | MCF-7 | breast: | |
3 | chr4:188021348..188024236-chr4:188025948..188027821,2 | K562 | blood: | |
4 | chr4:187939165..187941494-chr4:187941726..187943652,2 | K562 | blood: | |
5 | chr4:188016055..188017615-chr4:188020801..188022830,2 | MCF-7 | breast: | |
6 | chr4:188066477..188068496-chr4:188071988..188074466,2 | K562 | blood: | |
7 | chr4:187641888..187650885-chr4:187865376..187870322,9 | MCF-7 | breast: | |
8 | chr4:188169327..188171194-chr4:188181076..188182965,2 | K562 | blood: | |
9 | chr4:188261472..188262979-chr4:188266588..188269425,2 | K562 | blood: | |
10 | chr4:188527128..188528286-chr4:189293970..189294660,4 | MCF-7 | breast: | |
11 | chr4:188527681..188530400-chr4:188530916..188532601,2 | K562 | blood: | |
12 | chr4:188100330..188101980-chr4:188105667..188107214,2 | K562 | blood: | |
13 | chr4:188379432..188382221-chr4:188385756..188387515,2 | K562 | blood: | |
14 | chr4:187910556..187913594-chr4:187916872..187920065,3 | K562 | blood: | |
15 | chr4:188077660..188079789-chr4:188085671..188087696,2 | K562 | blood: | |
16 | chr4:188361387..188363227-chr4:188363317..188365027,2 | K562 | blood: | |
17 | chr4:188083083..188085833-chr4:188087348..188090241,2 | MCF-7 | breast: | |
18 | chr4:188021348..188024236-chr4:188025948..188027821,2 | K562 | blood: | |
19 | chr4:188379432..188382221-chr4:188385756..188387515,2 | K562 | blood: | |
20 | chr4:188278385..188280812-chr4:188281318..188282901,2 | K562 | blood: | |
21 | chr4:188016055..188017615-chr4:188020801..188022830,2 | MCF-7 | breast: | |
22 | chr4:188390078..188391598-chr8:43091410..43092931,3 | MCF-7 | breast: | |
23 | chr4:188360438..188363227-chr4:188363317..188366717,3 | K562 | blood: | |
24 | chr4:188056141..188059135-chr4:188062494..188064650,2 | K562 | blood: | |
25 | chr4:188177128..188179488-chr4:188187474..188190252,2 | MCF-7 | breast: | |
26 | chr4:188100330..188101980-chr4:188105667..188107214,2 | K562 | blood: | |
27 | chr4:187647654..187649416-chr4:188063013..188065311,2 | MCF-7 | breast: | |
28 | chr4:187646857..187647583-chr4:187867241..187868105,3 | MCF-7 | breast: | |
29 | chr4:187645367..187647070-chr4:188073656..188075512,2 | K562 | blood: | |
30 | chr4:187759553..187761639-chr4:187893343..187896166,2 | K562 | blood: | |
31 | chr4:188278385..188280812-chr4:188281318..188282901,2 | K562 | blood: | |
32 | chr4:188361387..188363227-chr4:188363317..188365027,2 | K562 | blood: | |
33 | chr4:187648031..187648672-chr4:187867515..187868384,2 | MCF-7 | breast: | |
34 | chr4:188136808..188139497-chr4:188168223..188169981,2 | K562 | blood: | |
35 | chr4:187987739..187989795-chr4:187999500..188002033,2 | MCF-7 | breast: | |
36 | chr4:188066477..188068496-chr4:188071988..188074466,2 | K562 | blood: | |
37 | chr4:188082742..188084382-chr4:188084801..188086705,2 | K562 | blood: | |
38 | chr4:187644629..187648780-chr4:187865976..187870182,7 | MCF-7 | breast: | |
39 | chr4:188127890..188130779-chr4:188137377..188140053,2 | K562 | blood: | |
40 | chr4:188136808..188139497-chr4:188168223..188169981,2 | K562 | blood: | |
41 | chr4:188218935..188220617-chr4:188223273..188225640,2 | K562 | blood: | |
42 | chr4:187646533..187648100-chr4:188156626..188159035,2 | MCF-7 | breast: | |
43 | chr4:188083083..188085833-chr4:188087348..188090241,2 | MCF-7 | breast: | |
44 | chr4:188127890..188130779-chr4:188137377..188140053,2 | K562 | blood: | |
45 | chr4:188169327..188171194-chr4:188181076..188182965,2 | K562 | blood: | |
46 | chr4:188077660..188079789-chr4:188085671..188087696,2 | K562 | blood: | |
47 | chr4:187647203..187650083-chr4:187858614..187861044,2 | MCF-7 | breast: | |
48 | chr4:188343831..188346613-chr4:188349550..188352474,2 | K562 | blood: | |
49 | chr4:187867684..187870026-chr4:187872421..187875152,2 | MCF-7 | breast: | |
50 | chr4:188261472..188262979-chr4:188266588..188269425,2 | K562 | blood: |
No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-ZFP42-11 | chr4:188419171-188419708 | NONHSAT099698 |
2 | lnc-ZFP42-12 | chr4:188370524-188371133 | l_2817_chr4:188360138-188372335_testes |
3 | lnc-FAT1-3 | chr4:188230336-188230836 | XLOC_004217 |
4 | lnc-ZFP42-7 | chr4:188123178-188123296 | XLOC_003825 |
5 | lnc-FAT1-3 | chr4:188228260-188228423 | XLOC_004217 |
6 | lnc-TRIML2-4 | chr4:188454036-188454357 | ENSG00000250590 |
7 | lnc-F11-4 | chr4:187981253-187981417 | XLOC_003824 |
8 | lnc-TRIML2-12 | chr4:188364017-188364135 | NONHSAT099697 |
9 | lnc-TRIML2-4 | chr4:188454032-188454357 | ENSG00000250590 |
10 | lnc-ZFP42-2 | chr4:188534800-188535153 | XLOC_003829 |
11 | lnc-FAT1-2 | chr4:188122781-188123084 | XLOC_004216 |
12 | lnc-ZFP42-6 | chr4:188292838-188293075 | XLOC_003826 |
13 | lnc-TRIML2-4 | chr4:188503575-188503684 | ENSG00000250590 |
14 | lnc-ZFP42-7 | chr4:188133984-188134139 | NONHSAT099688 |
15 | lnc-ZFP42-12 | chr4:188371277-188372335 | l_2817_chr4:188360138-188372335_testes |
16 | lnc-ZFP42-2 | chr4:188553805-188553988 | XLOC_003829 |
17 | lnc-ZFP42-7 | chr4:188134283-188134753 | NONHSAT099688 |
18 | lnc-ZFP42-7 | chr4:188123217-188123296 | XLOC_003825 |
19 | lnc-ZFP42-2 | chr4:188534919-188535153 | XLOC_003829 |
20 | lnc-TRIML2-4 | chr4:188477065-188477112 | ENSG00000250590 |
21 | lnc-ZFP42-13 | chr4:188237423-188237596 | NONHSAT099691 |
22 | lnc-FAT1-3 | chr4:188225792-188226855 | XLOC_004217 |
23 | lnc-TRIML2-4 | chr4:188479231-188479418 | ENSG00000250590 |
24 | lnc-TRIML2-4 | chr4:188513797-188514081 | NONHSAT099706 |
25 | lnc-TRIML2-3 | chr4:188534050-188534499 | XLOC_004221 |
26 | lnc-TRIML2-4 | chr4:188478901-188479074 | ENSG00000250590 |
27 | lnc-F11-3 | chr4:187980348-187980402 | XLOC_003823 |
28 | lnc-ZFP42-2 | chr4:188543796-188543894 | XLOC_003829 |
29 | lnc-ZFP42-7 | chr4:188123187-188123296 | XLOC_003825 |
30 | lnc-ZFP42-2 | chr4:188554100-188554300 | XLOC_003829 |
31 | lnc-ZFP42-5 | chr4:188336464-188337128 | NONHSAT099694 |
32 | lnc-F11-4 | chr4:187981829-187982084 | XLOC_003824 |
33 | lnc-ZFP42-2 | chr4:188571621-188571815 | XLOC_003829 |
34 | lnc-TRIML2-12 | chr4:188364965-188365452 | NONHSAT099697 |
35 | lnc-ZFP42-7 | chr4:188134283-188135298 | XLOC_003825 |
36 | lnc-F11-3 | chr4:187980530-187980856 | XLOC_003823 |
37 | lnc-ZFP42-4 | chr4:188343853-188344622 | NONHSAT099695 |
38 | lnc-ZFP42-6 | chr4:188292449-188292580 | XLOC_003826 |
39 | lnc-ZFP42-7 | chr4:188133530-188133630 | XLOC_003825 |
40 | lnc-F11-3 | chr4:187980278-187980644 | NONHSAT099680 |
41 | lnc-TRIML2-4 | chr4:188479391-188479418 | NONHSAT099704 |
42 | lnc-TRIML2-11 | chr4:188532415-188533775 | l_2818_chr4:188532414-188535272_placenta |
43 | lnc-ZFP42-13 | chr4:188252448-188253478 | NONHSAT099691 |
44 | lnc-ZFP42-10 | chr4:188501769-188501890 | NONHSAT099705 |
45 | lnc-ZFP42-13 | chr4:188251486-188251546 | NONHSAT099691 |
46 | lnc-ZFP42-10 | chr4:188493477-188493987 | NONHSAT099705 |
47 | lnc-ZFP42-7 | chr4:188129941-188130201 | XLOC_003825 |
48 | lnc-TRIML2-4 | chr4:188476215-188476298 | ENSG00000250590 |
49 | lnc-ZFP42-2 | chr4:188571727-188571815 | XLOC_003829 |
50 | lnc-ZFP42-2 | chr4:188534086-188535153 | XLOC_003829 |
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 |
ENSG00000249642 | 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 |
ENSG00000249642 | CpG island |
ENSG00000250590 | CpG island |
ENSG00000249747 | CpG island |
ENSG00000250971 | CpG island |
ENSG00000249742 | CpG island |
ENSG00000250658 | CpG island |
ENSG00000029993 | chromatin interactions |
ENSG00000251643 | chromatin interactions |
ENSG00000249742 | chromatin interactions |
ENSG00000083857 | chromatin interactions |
KLF12 | miRNA target sites |
ANTXR1 | miRNA target sites |
ANP32E | miRNA target sites |
MCL1 | miRNA target sites |
CDC42 | miRNA target sites |
TIMP3 | miRNA target sites |
OSBPL1A | miRNA target sites |
NDP | miRNA target sites |
ZFYVE26 | miRNA target sites |
LMNB1 | miRNA target sites |
CCND1 | miRNA target sites |
FSCN1 | miRNA target sites |
ANKRD57 | miRNA target sites |
UBXN1 | miRNA target sites |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs139617937 | chr4:187857833-187857834 | Enhancers Weak transcription Active TSS Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
2 | rs114460728 | chr4:187857834-187857835 | Enhancers Weak transcription Active TSS Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
3 | rs544337712 | chr4:187857892-187857893 | Enhancers Weak transcription Active TSS Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
4 | rs560934498 | chr4:187857925-187857926 | Enhancers Weak transcription Active TSS Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
5 | rs574560592 | chr4:187857947-187857948 | Enhancers Weak transcription Active TSS Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
6 | rs540468102 | chr4:187857951-187857952 | Enhancers Weak transcription Active TSS Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
7 | rs77594855 | chr4:187858028-187858029 | Weak transcription Enhancers Active TSS Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
8 | rs377000424 | chr4:187858075-187858076 | Weak transcription Enhancers Active TSS Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
9 | rs145302081 | chr4:187858100-187858101 | Weak transcription Enhancers Active TSS Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
10 | rs552399803 | chr4:187858133-187858134 | Weak transcription Enhancers Active TSS Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
11 | rs80047930 | chr4:187858143-187858144 | Weak transcription Enhancers Active TSS Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
12 | rs530901693 | chr4:187858170-187858171 | Weak transcription Enhancers Active TSS Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
13 | rs200485026 | chr4:187858181-187858182 | Weak transcription Enhancers Active TSS Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
14 | rs5865020 | chr4:187858183-187858184 | Weak transcription Enhancers Active TSS Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
15 | rs397996591 | chr4:187858184-187858185 | Weak transcription Enhancers Active TSS Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
16 | rs550684516 | chr4:187858187-187858188 | Weak transcription Enhancers Active TSS Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
17 | rs567369928 | chr4:187858204-187858205 | Weak transcription Active TSS Flanking Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs143827726 | chr4:187858226-187858227 | Weak transcription Active TSS Flanking Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs531672723 | chr4:187858254-187858255 | Weak transcription Active TSS Flanking Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs75371081 | chr4:187858261-187858262 | Weak transcription Active TSS Flanking Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs567449554 | chr4:187858304-187858305 | Weak transcription Active TSS Flanking Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs114512060 | chr4:187858340-187858341 | Weak transcription Active TSS Flanking Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs546833357 | chr4:187858341-187858342 | Weak transcription Active TSS Flanking Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs191456008 | chr4:187858371-187858372 | Weak transcription Active TSS Flanking Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs115590844 | chr4:187858404-187858405 | Weak transcription Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
26 | rs559168813 | chr4:187858446-187858447 | Weak transcription Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
27 | rs575152189 | chr4:187858476-187858477 | Weak transcription Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
28 | rs147632343 | chr4:187858552-187858553 | Weak transcription Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
29 | rs554585901 | chr4:187858594-187858595 | Weak transcription Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
30 | rs574625943 | chr4:187858685-187858686 | Weak transcription Enhancers Flanking Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
31 | rs549896621 | chr4:187858710-187858711 | Weak transcription Enhancers Flanking Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
32 | rs560092148 | chr4:187858718-187858719 | Weak transcription Enhancers Flanking Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
33 | rs183280654 | chr4:187858738-187858739 | Weak transcription Enhancers Flanking Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
34 | rs57727322 | chr4:187858747-187858748 | Weak transcription Enhancers Flanking Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
35 | rs143018299 | chr4:187858751-187858752 | Weak transcription Enhancers Flanking Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
36 | rs531482121 | chr4:187858773-187858774 | Weak transcription Enhancers Flanking Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
37 | rs538818366 | chr4:187858779-187858780 | Weak transcription Enhancers Flanking Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
38 | rs151179812 | chr4:187858813-187858814 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
39 | rs560939622 | chr4:187858885-187858886 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
40 | rs530181577 | chr4:187858920-187858921 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
41 | rs547026210 | chr4:187858930-187858931 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
42 | rs140192752 | chr4:187858975-187858976 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
43 | rs186081470 | chr4:187858993-187858994 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
44 | rs554345821 | chr4:187858995-187858996 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
45 | rs552470319 | chr4:187859003-187859004 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
46 | rs569565979 | chr4:187859027-187859028 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
47 | rs538529109 | chr4:187859097-187859098 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
48 | rs566198899 | chr4:187859142-187859143 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
49 | rs75803004 | chr4:187859145-187859146 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
50 | rs574438377 | chr4:187859191-187859192 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | 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 |
Breast cancer | 22522925 | CNVD |
Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Oral cancer | 17325662 | CNVD |
Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
Autism | 20808228 | CNVD |
Cognitive impairment | 21505072 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr4:187837200-187863800 | Weak transcription | Right Atrium | heart |
2 | chr4:187853200-187858400 | Enhancers | Fetal Lung | lung |
3 | chr4:187854200-187858400 | Enhancers | NHDF-Ad | bronchial |
4 | chr4:187855000-187864000 | Weak transcription | HSMMtube | muscle |
5 | chr4:187855200-187863600 | Weak transcription | Fetal Heart | heart |
6 | chr4:187855600-187858200 | Enhancers | Breast Myoepithelial Primary Cells | Breast |
7 | chr4:187855600-187858600 | Weak transcription | Lung | lung |
8 | chr4:187855800-187858800 | Enhancers | HMEC | breast |
9 | chr4:187856000-187858200 | Enhancers | hESC Derived CD56+ Mesoderm Cultured Cells | ES cell derived |
10 | chr4:187856400-187860000 | Weak transcription | iPS DF 6.9 Cell Line | embryonic stem cell |
11 | chr4:187856600-187858000 | Weak transcription | Foreskin Keratinocyte Primary Cells skin03 | Skin |
12 | chr4:187857200-187858200 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
13 | chr4:187857200-187864000 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
14 | chr4:187857400-187858600 | Enhancers | NHLF | lung |
15 | chr4:187857400-187863800 | Weak transcription | Pancreas | Pancrea |
16 | chr4:187857400-187863800 | Weak transcription | Sigmoid Colon | Sigmoid Colon |
17 | chr4:187857400-187864200 | Weak transcription | Colonic Mucosa | Colon |
18 | chr4:187857600-187858000 | Flanking Active TSS | A549 | lung |
19 | chr4:187857600-187858200 | Flanking Active TSS | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
20 | chr4:187857600-187858200 | Active TSS | Fetal Intestine Large | intestine |
21 | chr4:187857600-187858200 | Flanking Active TSS | Rectal Mucosa Donor 31 | rectum |
22 | chr4:187857600-187858600 | Enhancers | Muscle Satellite Cultured Cells | -- |
23 | chr4:187857600-187858600 | Active TSS | Rectal Mucosa Donor 29 | rectum |
24 | chr4:187857600-187858600 | Enhancers | NHEK | skin |
25 | chr4:187857600-187858800 | Enhancers | NH-A | brain |
26 | chr4:187857800-187858000 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
27 | chr4:187857800-187858000 | Active TSS | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
28 | chr4:187857800-187858000 | Flanking Active TSS | Duodenum Smooth Muscle | Duodenum |
29 | chr4:187857800-187858000 | Enhancers | Fetal Intestine Small | intestine |
30 | chr4:187857800-187858000 | Enhancers | Rectal Smooth Muscle | rectum |
31 | chr4:187857800-187858200 | Flanking Active TSS | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
32 | chr4:187857800-187858200 | Active TSS | Aorta | Aorta |
33 | chr4:187857800-187858200 | Flanking Active TSS | Colon Smooth Muscle | Colon |
34 | chr4:187857800-187858200 | Flanking Active TSS | Fetal Kidney | kidney |
35 | chr4:187857800-187858200 | Active TSS | Stomach Mucosa | stomach |
36 | chr4:187857800-187858200 | Flanking Active TSS | HUVEC | blood vessel |
37 | chr4:187857800-187858200 | Flanking Active TSS | Osteobl | bone |
38 | chr4:187857800-187858400 | Active TSS | IMR90 fetal lung fibroblasts Cell Line | lung |
39 | chr4:187857800-187858400 | Flanking Active TSS | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
40 | chr4:187857800-187858400 | Active TSS | Duodenum Mucosa | Duodenum |
41 | chr4:187857800-187858400 | Active TSS | Stomach Smooth Muscle | stomach |
42 | chr4:187857800-187858400 | Flanking Active TSS | HepG2 | liver |
43 | chr4:187857800-187858600 | Enhancers | Foreskin Keratinocyte Primary Cells skin02 | Skin |
44 | chr4:187857800-187858600 | Enhancers | HSMM | muscle |
45 | chr4:187858000-187858200 | Flanking Active TSS | Fetal Intestine Small | intestine |
46 | chr4:187858000-187858200 | Flanking Active TSS | Rectal Smooth Muscle | rectum |
47 | chr4:187858000-187858400 | Flanking Active TSS | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
48 | chr4:187858000-187858400 | Enhancers | Liver | Liver |
49 | chr4:187858000-187858400 | Active TSS | Duodenum Smooth Muscle | Duodenum |
50 | chr4:187858000-187858400 | Active TSS | A549 | lung |