Variant report
Variant | nsv1032747 |
---|---|
Chromosome Location | chr4:187851202-188435238 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:2109)
- CpG islands (count:5067)
- Chromatin interactive region (count:69)
- LncRNA region (count:57)
- 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 | chr4:187861751-187861928 | HepG2 | liver: | n/a | n/a |
2 | ARID3A | chr4:187857788-187858659 | HepG2 | liver: | n/a | n/a |
3 | ARID3A | chr4:187853628-187853802 | HepG2 | liver: | n/a | n/a |
4 | ARID3A | chr4:187868629-187868925 | HepG2 | liver: | n/a | n/a |
5 | ARID3A | chr4:187867829-187868202 | HepG2 | liver: | n/a | n/a |
6 | ARID3A | chr4:188172278-188172408 | HepG2 | liver: | n/a | n/a |
7 | ATF1 | chr4:187861013-187861279 | K562 | blood: | n/a | n/a |
8 | BACH1 | chr4:188413248-188413433 | K562 | blood: | n/a | chr4:188413338-188413352 |
9 | BACH1 | chr4:188068202-188068264 | K562 | blood: | n/a | n/a |
10 | BACH1 | chr4:188008250-188008420 | K562 | blood: | n/a | n/a |
11 | BACH1 | chr4:187938365-187938620 | H1-hESC | embryonic stem cell: | n/a | n/a |
12 | BACH1 | chr4:187870229-187870474 | H1-hESC | embryonic stem cell: | n/a | n/a |
13 | BACH1 | chr4:188009756-188009863 | H1-hESC | embryonic stem cell: | n/a | n/a |
14 | BACH1 | chr4:188129816-188130163 | H1-hESC | embryonic stem cell: | n/a | n/a |
15 | BACH1 | chr4:188129825-188130039 | K562 | blood: | n/a | n/a |
16 | BCL3 | chr4:188193059-188193371 | GM12878 | blood: | n/a | n/a |
17 | BHLHE40 | chr4:187867852-187868124 | HepG2 | liver: | n/a | n/a |
18 | BHLHE40 | chr4:188078752-188079118 | K562 | blood: | n/a | n/a |
19 | BHLHE40 | chr4:188162982-188163057 | A549 | lung: | n/a | n/a |
20 | BHLHE40 | chr4:188343966-188344142 | K562 | blood: | n/a | n/a |
21 | CBX3 | chr4:187853152-187854568 | HCT-116 | colon: | n/a | n/a |
22 | CBX3 | chr4:188301159-188301792 | HCT-116 | colon: | n/a | n/a |
23 | CBX3 | chr4:187857745-187858737 | HCT-116 | colon: | n/a | n/a |
24 | CBX3 | chr4:187853176-187854694 | HCT-116 | colon: | n/a | n/a |
25 | CEBPB | chr4:188399632-188400363 | IMR90 | lung: | n/a | n/a |
26 | CEBPB | chr4:188026962-188027291 | HepG2 | liver: | n/a | chr4:188027103-188027114 |
27 | CEBPB | chr4:187857692-187858706 | HCT-116 | colon: | n/a | n/a |
28 | CEBPB | chr4:187863864-187864222 | Hela-S3 | cervix: | n/a | chr4:187864080-187864091 |
29 | CEBPB | chr4:187861713-187861987 | HepG2 | liver: | n/a | n/a |
30 | CEBPB | chr4:187858205-187858555 | A549 | lung: | n/a | n/a |
31 | CEBPB | chr4:188295952-188296114 | HepG2 | liver: | n/a | chr4:188296003-188296014 chr4:188296003-188296016 |
32 | CEBPB | chr4:188254254-188254599 | IMR90 | lung: | n/a | chr4:188254404-188254415 |
33 | CEBPB | chr4:188337413-188337766 | Hela-S3 | cervix: | n/a | chr4:188337610-188337621 chr4:188337669-188337677 |
34 | CEBPB | chr4:187923364-187923655 | A549 | lung: | n/a | chr4:187923465-187923476 |
35 | CEBPB | chr4:188263083-188263269 | HepG2 | liver: | n/a | n/a |
36 | CEBPB | chr4:187927557-187927886 | IMR90 | lung: | n/a | chr4:187927733-187927746 |
37 | CEBPB | chr4:187951805-187952024 | A549 | lung: | n/a | chr4:187951939-187951950 |
38 | CEBPB | chr4:187951890-187952101 | K562 | blood: | n/a | chr4:187951939-187951950 |
39 | CEBPB | chr4:188167859-188168183 | HepG2 | liver: | n/a | chr4:188168001-188168012 chr4:188168002-188168013 chr4:188168052-188168065 |
40 | CEBPB | chr4:188183122-188183182 | H1-hESC | embryonic stem cell: | n/a | n/a |
41 | CEBPB | chr4:187923410-187923599 | H1-hESC | embryonic stem cell: | n/a | chr4:187923465-187923476 |
42 | CEBPB | chr4:187852609-187855078 | HCT-116 | colon: | n/a | chr4:187854661-187854674 chr4:187852912-187852923 chr4:187853362-187853379 chr4:187852911-187852922 chr4:187854661-187854672 chr4:187854661-187854674 |
43 | CEBPB | chr4:188158514-188158784 | H1-hESC | embryonic stem cell: | n/a | n/a |
44 | CEBPB | chr4:188405573-188406437 | IMR90 | lung: | n/a | chr4:188405878-188405889 chr4:188405683-188405696 chr4:188405685-188405696 chr4:188405877-188405890 |
45 | CEBPB | chr4:187856204-187856429 | HepG2 | liver: | n/a | chr4:187856291-187856302 |
46 | CEBPB | chr4:188152011-188152233 | IMR90 | lung: | n/a | chr4:188152090-188152101 chr4:188152090-188152103 chr4:188152092-188152103 chr4:188152092-188152101 |
47 | CEBPB | chr4:187863984-187864144 | HepG2 | liver: | n/a | chr4:187864080-187864091 |
48 | CEBPB | chr4:188184825-188185024 | IMR90 | lung: | n/a | n/a |
49 | CEBPB | chr4:187858200-187858563 | HepG2 | liver: | n/a | n/a |
50 | CEBPB | chr4:188317704-188317987 | IMR90 | lung: | n/a | chr4:188317842-188317853 chr4:188317842-188317855 chr4:188317839-188317856 |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr4:187880263-187880313 | Hepatocyte | liver: | n/a |
2 | chr4:187851418-187851468 | GM19239 | blood: | n/a |
3 | chr4:188046350-188046400 | AG04449 | skin: | fetal |
4 | chr4:188423066-188423116 | AG04450 | lung: | fetal |
5 | chr4:187880263-187880313 | Hepatocyte | liver: | n/a |
6 | chr4:187851418-187851468 | GM19239 | blood: | n/a |
7 | chr4:188046350-188046400 | AG04449 | skin: | fetal |
8 | chr4:188423066-188423116 | AG04450 | lung: | fetal |
9 | chr4:188140291-188140341 | NH-A | brain: | n/a |
10 | chr4:188045689-188045739 | NH-A | brain: | n/a |
11 | chr4:188256637-188256687 | HL-60 | blood: | n/a |
12 | chr4:188156675-188156725 | MCF-7 | breast: | n/a |
13 | chr4:187884817-187884867 | HIPEpiC | eye: | n/a |
14 | chr4:188223108-188223158 | Hela-S3 | cervix: | n/a |
15 | chr4:188078789-188078839 | NH-A | brain: | n/a |
16 | chr4:188208070-188208120 | GM19239 | blood: | n/a |
17 | chr4:187893119-187893169 | LNCaP | prostate: | n/a |
18 | chr4:188078670-188078720 | NH-A | brain: | n/a |
19 | chr4:188047315-188047365 | GM19239 | blood: | n/a |
20 | chr4:188426437-188426487 | HCF | heart: | n/a |
21 | chr4:187864009-187864059 | AG09309 | skin: | n/a |
22 | chr4:187891568-187891618 | HCPEpiC | choroid plexus: | n/a |
23 | chr4:187881888-187881938 | K562 | blood: | n/a |
24 | chr4:188009477-188009527 | HRE | kidney: | n/a |
25 | chr4:188045495-188045545 | GM12878 | blood: | n/a |
26 | chr4:188045495-188045545 | HEK293 | kidney: | embryo |
27 | chr4:188078670-188078720 | RPTEC | kidney: | n/a |
28 | chr4:188230390-188230440 | HRE | kidney: | n/a |
29 | chr4:188097774-188097824 | SAEC | small airway: | n/a |
30 | chr4:187959224-187959274 | HCT-116 | colon: | n/a |
31 | chr4:187985253-187985303 | HEK293 | kidney: | embryo |
32 | chr4:188156703-188156753 | MCF10A-Er-Src | breast: | n/a |
33 | chr4:188101115-188101165 | HIPEpiC | eye: | n/a |
34 | chr4:188078670-188078720 | GM06990 | blood: | n/a |
35 | chr4:187985253-187985303 | AG10803 | skin: | n/a |
36 | chr4:187984633-187984683 | HPAEpiC | pulmonary alveolar: | n/a |
37 | chr4:187984412-187984462 | HEEpiC | esophagus: | n/a |
38 | chr4:187884817-187884867 | HNPCEpiC | eye: | n/a |
39 | chr4:188078789-188078839 | Jurkat | blood: | n/a |
40 | chr4:188009477-188009527 | NHBE | bronchial: | n/a |
41 | chr4:188046444-188046494 | HCF | heart: | n/a |
42 | chr4:187984958-187985008 | NHBE | bronchial: | n/a |
43 | chr4:188078670-188078720 | NHBE | bronchial: | n/a |
44 | chr4:188427966-188428016 | NH-A | brain: | n/a |
45 | chr4:187891568-187891618 | Hela-S3 | cervix: | n/a |
46 | chr4:188223108-188223158 | LNCaP | prostate: | n/a |
47 | chr4:188157167-188157217 | CMK | blood: | n/a |
48 | chr4:187985377-187985427 | Jurkat | blood: | n/a |
49 | chr4:187988456-187988506 | HepG2 | liver: | n/a |
50 | chr4:187892539-187892589 | GM19239 | blood: | n/a |
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr4:188379432..188382221-chr4:188385756..188387515,2 | K562 | blood: | |
2 | chr4:187848247..187850848-chr4:187854272..187856829,2 | K562 | blood: | |
3 | chr4:188391078..188391578-chr8:43092429..43092931,2 | MCF-7 | breast: | |
4 | chr4:188169327..188171194-chr4:188181076..188182965,2 | K562 | blood: | |
5 | chr4:187646857..187647583-chr4:187867241..187868105,3 | MCF-7 | breast: | |
6 | chr4:188361387..188363227-chr4:188363317..188365027,2 | K562 | blood: | |
7 | chr4:188361387..188363227-chr4:188363317..188365027,2 | K562 | blood: | |
8 | chr4:188424251..188426259-chr4:188431828..188433769,2 | MCF-7 | breast: | |
9 | chr4:188016055..188017615-chr4:188020801..188022830,2 | MCF-7 | breast: | |
10 | chr4:187910556..187913594-chr4:187916872..187920065,3 | K562 | blood: | |
11 | chr4:188021348..188024236-chr4:188025948..188027821,2 | K562 | blood: | |
12 | chr4:188056141..188059135-chr4:188062494..188064650,2 | K562 | blood: | |
13 | chr4:188169327..188171194-chr4:188181076..188182965,2 | K562 | blood: | |
14 | chr4:188261472..188262979-chr4:188266588..188269425,2 | K562 | blood: | |
15 | chr4:187644629..187648780-chr4:187865976..187870182,7 | MCF-7 | breast: | |
16 | chr4:188077660..188079789-chr4:188085671..188087696,2 | K562 | blood: | |
17 | chr4:188100330..188101980-chr4:188105667..188107214,2 | K562 | blood: | |
18 | chr4:187647203..187650083-chr4:187858614..187861044,2 | MCF-7 | breast: | |
19 | chr4:188066477..188068496-chr4:188071988..188074466,2 | K562 | blood: | |
20 | chr4:188177128..188179488-chr4:188187474..188190252,2 | MCF-7 | breast: | |
21 | chr4:188136808..188139497-chr4:188168223..188169981,2 | K562 | blood: | |
22 | chr4:187641888..187650885-chr4:187865376..187870322,9 | MCF-7 | breast: | |
23 | chr4:188360438..188363227-chr4:188363317..188366717,3 | K562 | blood: | |
24 | chr4:188136808..188139497-chr4:188168223..188169981,2 | K562 | blood: | |
25 | chr4:187987739..187989795-chr4:187999500..188002033,2 | MCF-7 | breast: | |
26 | chr4:187759553..187761639-chr4:187893343..187896166,2 | K562 | blood: | |
27 | chr4:188021348..188024236-chr4:188025948..188027821,2 | K562 | blood: | |
28 | chr4:187867875..187869719-chr4:187871363..187873618,2 | MCF-7 | breast: | |
29 | chr4:188083083..188085833-chr4:188087348..188090241,2 | MCF-7 | breast: | |
30 | chr4:187645367..187647070-chr4:188073656..188075512,2 | K562 | blood: | |
31 | chr4:188426813..188429681-chrX:150150480..150152156,2 | MCF-7 | breast: | |
32 | chr4:188343831..188346613-chr4:188349550..188352474,2 | K562 | blood: | |
33 | chr4:187658603..187659281-chr4:187867789..187868472,2 | MCF-7 | breast: | |
34 | chr4:188127890..188131303-chr4:188136198..188140053,3 | K562 | blood: | |
35 | chr4:187867684..187870026-chr4:187872421..187875152,2 | MCF-7 | breast: | |
36 | chr4:188379432..188382221-chr4:188385756..188387515,2 | K562 | blood: | |
37 | chr4:187702948..187705032-chr4:187853740..187855963,2 | K562 | blood: | |
38 | chr4:188218935..188220617-chr4:188223273..188225640,2 | K562 | blood: | |
39 | chr4:187645972..187647664-chr4:187867143..187868450,8 | MCF-7 | breast: | |
40 | chr4:187987739..187989795-chr4:187999500..188002033,2 | MCF-7 | breast: | |
41 | chr4:187646533..187648100-chr4:188156626..188159035,2 | MCF-7 | breast: | |
42 | chr4:188077660..188079789-chr4:188085671..188087696,2 | K562 | blood: | |
43 | chr4:188082742..188084382-chr4:188084801..188086705,2 | K562 | blood: | |
44 | chr4:187867875..187869719-chr4:187871363..187873618,2 | MCF-7 | breast: | |
45 | chr4:188278385..188280812-chr4:188281318..188282901,2 | K562 | blood: | |
46 | chr4:187939165..187941494-chr4:187941726..187943652,2 | K562 | blood: | |
47 | chr4:188056141..188059135-chr4:188062494..188064650,2 | K562 | blood: | |
48 | chr4:187648031..187648672-chr4:187867515..187868384,2 | MCF-7 | breast: | |
49 | chr4:188083083..188085833-chr4:188087348..188090241,2 | MCF-7 | breast: | |
50 | chr4:188390078..188391598-chr8:43091410..43092931,3 | MCF-7 | breast: |
No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-FAT1-3 | chr4:188225792-188226855 | XLOC_004217 |
2 | lnc-ZFP42-4 | chr4:188351216-188351539 | XLOC_003828 |
3 | lnc-FAT1-3 | chr4:188225237-188225621 | XLOC_004217 |
4 | lnc-FAT1-3 | chr4:188228260-188228423 | XLOC_004217 |
5 | lnc-ZFP42-11 | chr4:188419753-188420210 | NONHSAT099698 |
6 | lnc-FAT1-1 | chr4:187943080-187943127 | XLOC_004215 |
7 | lnc-ZFP42-12 | chr4:188371277-188372335 | l_2817_chr4:188360138-188372335_testes |
8 | lnc-ZFP42-6 | chr4:188292449-188292580 | XLOC_003826 |
9 | lnc-ZFP42-5 | chr4:188336464-188336851 | ENSG00000250620 |
10 | lnc-ZFP42-13 | chr4:188252448-188253478 | NONHSAT099691 |
11 | lnc-ZFP42-7 | chr4:188123187-188123296 | XLOC_003825 |
12 | lnc-FAT1-1 | chr4:187917410-187917592 | XLOC_004215 |
13 | lnc-FAT1-1 | chr4:187900644-187900886 | XLOC_004215 |
14 | lnc-TRIML2-12 | chr4:188362831-188363446 | NONHSAT099697 |
15 | lnc-ZFP42-4 | chr4:188344049-188344151 | XLOC_003828 |
16 | lnc-ZFP42-11 | chr4:188419171-188419708 | NONHSAT099698 |
17 | lnc-ZFP42-7 | chr4:188129941-188130201 | XLOC_003825 |
18 | lnc-ZFP42-7 | chr4:188133530-188134139 | XLOC_003825 |
19 | lnc-ZFP42-12 | chr4:188370524-188371133 | l_2817_chr4:188360138-188372335_testes |
20 | lnc-ZFP42-5 | chr4:188329695-188330053 | NONHSAT099694 |
21 | lnc-ZFP42-7 | chr4:188123145-188123296 | XLOC_003825 |
22 | lnc-ZFP42-7 | chr4:188130341-188130500 | XLOC_003825 |
23 | lnc-F11-3 | chr4:187980530-187980856 | XLOC_003823 |
24 | lnc-ZFP42-7 | chr4:188129941-188130201 | XLOC_003825 |
25 | lnc-ZFP42-7 | chr4:188123178-188123296 | XLOC_003825 |
26 | lnc-F11-3 | chr4:187981371-187981417 | NONHSAT099680 |
27 | lnc-F11-3 | chr4:187981829-187982019 | NONHSAT099680 |
28 | lnc-ZFP42-7 | chr4:188134283-188134810 | XLOC_003825 |
29 | lnc-ZFP42-6 | chr4:188291802-188291929 | XLOC_003826 |
30 | lnc-ZFP42-12 | chr4:188360139-188360290 | l_2817_chr4:188360138-188372335_testes |
31 | lnc-ZFP42-6 | chr4:188292838-188293075 | XLOC_003826 |
32 | lnc-ZFP42-4 | chr4:188351172-188352018 | NONHSAT099695 |
33 | lnc-ZFP42-7 | chr4:188123140-188123296 | XLOC_003825 |
34 | lnc-ZFP42-7 | chr4:188133530-188134139 | XLOC_003825 |
35 | lnc-ZFP42-5 | chr4:188334718-188334865 | ENSG00000250620 |
36 | lnc-ZFP42-4 | chr4:188343853-188344622 | NONHSAT099695 |
37 | lnc-FAT1-2 | chr4:188122781-188123084 | XLOC_004216 |
38 | lnc-ZFP42-7 | chr4:188123217-188123296 | XLOC_003825 |
39 | lnc-TRIML2-12 | chr4:188364017-188364135 | NONHSAT099697 |
40 | lnc-F11-3 | chr4:187980278-187980644 | NONHSAT099680 |
41 | lnc-ZFP42-7 | chr4:188133499-188133581 | NONHSAT099688 |
42 | lnc-F11-3 | chr4:187980348-187980402 | XLOC_003823 |
43 | lnc-ZFP42-7 | chr4:188134283-188135298 | XLOC_003825 |
44 | lnc-ZFP42-7 | chr4:188133530-188133630 | XLOC_003825 |
45 | lnc-ZFP42-13 | chr4:188251486-188251546 | NONHSAT099691 |
46 | lnc-ZFP42-5 | chr4:188334716-188334865 | NONHSAT099694 |
47 | lnc-ZFP42-13 | chr4:188228509-188228694 | NONHSAT099691 |
48 | lnc-ZFP42-13 | chr4:188237423-188237596 | NONHSAT099691 |
49 | lnc-ZFP42-5 | chr4:188336464-188337128 | NONHSAT099694 |
50 | lnc-ZFP42-7 | chr4:188124136-188124768 | XLOC_003825 |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000251643 | TF binding region |
ENSG00000250620 | TF binding region |
ENSG00000250042 | TF binding region |
ENSG00000249747 | TF binding region |
ENSG00000250971 | TF binding region |
ENSG00000249742 | TF binding region |
ENSG00000250658 | TF binding region |
ENSG00000251643 | CpG island |
ENSG00000250620 | CpG island |
ENSG00000250042 | CpG island |
ENSG00000249747 | CpG island |
ENSG00000250971 | CpG island |
ENSG00000249742 | CpG island |
ENSG00000250658 | CpG island |
ENSG00000083857 | chromatin interactions |
ENSG00000029993 | chromatin interactions |
ENSG00000249742 | chromatin interactions |
ENSG00000251643 | chromatin interactions |
UBXN1 | miRNA target sites |
LMNB1 | miRNA target sites |
ZFYVE26 | miRNA target sites |
OSBPL1A | miRNA target sites |
ANKRD57 | miRNA target sites |
CCND1 | miRNA target sites |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs564524541 | chr4:187851224-187851225 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs202211987 | chr4:187851252-187851253 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs149111671 | chr4:187851272-187851273 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs569188620 | chr4:187851278-187851279 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs7682123 | chr4:187851288-187851289 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | mRNA abundance |
6 | rs112422464 | chr4:187851326-187851327 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs7657521 | chr4:187851352-187851353 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs183864422 | chr4:187851356-187851357 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs566799592 | chr4:187851365-187851366 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs538919266 | chr4:187851400-187851401 | ZNF genes & repeats Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs188982597 | chr4:187851404-187851405 | ZNF genes & repeats Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs577954066 | chr4:187851413-187851414 | ZNF genes & repeats Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs537553409 | chr4:187851423-187851424 | ZNF genes & repeats Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs557132946 | chr4:187851434-187851435 | ZNF genes & repeats Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs574196097 | chr4:187851435-187851436 | ZNF genes & repeats Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs143161458 | chr4:187851438-187851439 | ZNF genes & repeats Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs374849040 | chr4:187851439-187851440 | ZNF genes & repeats Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs559502319 | chr4:187851466-187851467 | ZNF genes & repeats Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs573237391 | chr4:187851471-187851472 | ZNF genes & repeats Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs369503980 | chr4:187851482-187851483 | ZNF genes & repeats Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs545287582 | chr4:187851491-187851492 | ZNF genes & repeats Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs564941675 | chr4:187851494-187851495 | ZNF genes & repeats Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs181617516 | chr4:187851498-187851499 | ZNF genes & repeats Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs148195334 | chr4:187851513-187851514 | ZNF genes & repeats Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs372800369 | chr4:187851586-187851587 | ZNF genes & repeats Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs78397544 | chr4:187851609-187851610 | ZNF genes & repeats Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs546850300 | chr4:187851626-187851627 | ZNF genes & repeats Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs540419989 | chr4:187851640-187851641 | ZNF genes & repeats Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs79160322 | chr4:187851645-187851646 | ZNF genes & repeats Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs78588115 | chr4:187851743-187851744 | ZNF genes & repeats Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs185162813 | chr4:187851766-187851767 | ZNF genes & repeats Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs142677469 | chr4:187851792-187851793 | ZNF genes & repeats Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs537019359 | chr4:187851847-187851848 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs557452372 | chr4:187851872-187851873 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs386683594 | chr4:187851901-187851902 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs7663572 | chr4:187851903-187851904 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
37 | rs369944546 | chr4:187851946-187851947 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
38 | rs190800805 | chr4:187851989-187851990 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
39 | rs556108135 | chr4:187852058-187852059 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
40 | rs137987263 | chr4:187852065-187852066 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
41 | rs371172925 | chr4:187852082-187852083 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
42 | rs76914214 | chr4:187852091-187852092 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
43 | rs558946835 | chr4:187852108-187852109 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
44 | rs575216374 | chr4:187852126-187852127 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
45 | rs143247174 | chr4:187852148-187852149 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
46 | rs560922848 | chr4:187852158-187852159 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
47 | rs533449390 | chr4:187852205-187852206 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
48 | rs150875157 | chr4:187852247-187852248 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
49 | rs13134134 | chr4:187852339-187852340 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
50 | rs182037518 | chr4:187852345-187852346 | Weak transcription Enhancers | 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 |
Breast cancer | 22522925 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
Oral cancer | 17325662 | 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 | chr4:187840000-187853400 | Weak transcription | Fetal Kidney | kidney |
3 | chr4:187842000-187852400 | Weak transcription | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
4 | chr4:187842600-187852200 | Weak transcription | HMEC | breast |
5 | chr4:187846200-187851400 | Weak transcription | Foreskin Fibroblast Primary Cells skin01 | Skin |
6 | chr4:187846200-187851800 | Weak transcription | Osteobl | bone |
7 | chr4:187846400-187853400 | Weak transcription | IMR90 fetal lung fibroblasts Cell Line | lung |
8 | chr4:187849000-187852000 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
9 | chr4:187850400-187852200 | Weak transcription | Foreskin Fibroblast Primary Cells skin02 | Skin |
10 | chr4:187850600-187851800 | Weak transcription | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
11 | chr4:187850600-187852000 | Weak transcription | NHDF-Ad | bronchial |
12 | chr4:187850800-187852200 | Weak transcription | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
13 | chr4:187850800-187852200 | Weak transcription | Muscle Satellite Cultured Cells | -- |
14 | chr4:187851200-187851400 | ZNF genes & repeats | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
15 | chr4:187851200-187851800 | ZNF genes & repeats | H1 Derived Mesenchymal Stem Cells | ES cell derived |
16 | chr4:187851200-187851800 | ZNF genes & repeats | Foreskin Keratinocyte Primary Cells skin03 | Skin |
17 | chr4:187851400-187854000 | Enhancers | Foreskin Fibroblast Primary Cells skin01 | Skin |
18 | chr4:187851800-187853000 | Enhancers | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
19 | chr4:187851800-187853400 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
20 | chr4:187851800-187855800 | Weak transcription | Foreskin Keratinocyte Primary Cells skin03 | Skin |
21 | chr4:187851800-187857800 | Enhancers | Osteobl | bone |
22 | chr4:187852000-187853000 | Enhancers | NHDF-Ad | bronchial |
23 | chr4:187852000-187854200 | Enhancers | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
24 | chr4:187852000-187854400 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
25 | chr4:187852000-187855000 | Enhancers | HSMM | muscle |
26 | chr4:187852200-187853000 | Enhancers | Muscle Satellite Cultured Cells | -- |
27 | chr4:187852200-187853800 | Enhancers | Foreskin Fibroblast Primary Cells skin02 | Skin |
28 | chr4:187852200-187854400 | Enhancers | HMEC | breast |
29 | chr4:187852200-187854600 | Enhancers | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
30 | chr4:187852400-187853400 | Enhancers | NHLF | lung |
31 | chr4:187852400-187855000 | Enhancers | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
32 | chr4:187852800-187854400 | Enhancers | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
33 | chr4:187853000-187853200 | Flanking Active TSS | NHDF-Ad | bronchial |
34 | chr4:187853000-187853200 | Enhancers | NHEK | skin |
35 | chr4:187853000-187853400 | Enhancers | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
36 | chr4:187853000-187853600 | Flanking Active TSS | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
37 | chr4:187853000-187853600 | Flanking Active TSS | Muscle Satellite Cultured Cells | -- |
38 | chr4:187853000-187854200 | Enhancers | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
39 | chr4:187853000-187854600 | Enhancers | HepG2 | liver |
40 | chr4:187853000-187856600 | Enhancers | Foreskin Keratinocyte Primary Cells skin02 | Skin |
41 | chr4:187853200-187853400 | Enhancers | NHDF-Ad | bronchial |
42 | chr4:187853200-187854000 | Weak transcription | NHEK | skin |
43 | chr4:187853200-187855200 | Enhancers | Rectal Mucosa Donor 29 | rectum |
44 | chr4:187853200-187858400 | Enhancers | Fetal Lung | lung |
45 | chr4:187853400-187853600 | Enhancers | H1 Derived Mesenchymal Stem Cells | ES cell derived |
46 | chr4:187853400-187853600 | Flanking Active TSS | NHDF-Ad | bronchial |
47 | chr4:187853400-187853600 | Flanking Active TSS | NHLF | lung |
48 | chr4:187853400-187854200 | Enhancers | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
49 | chr4:187853400-187854200 | Enhancers | Sigmoid Colon | Sigmoid Colon |
50 | chr4:187853400-187854400 | Enhancers | HSMMtube | muscle |