Variant report
Variant | nsv916550 |
---|---|
Chromosome Location | chr8:46942962-47863337 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:3201)
- CpG islands (count:5193)
- Chromatin interactive region (count:51)
- LncRNA region (count:98)
- 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 | chr8:47529231-47529761 | K562 | blood: | n/a | n/a |
2 | ATF1 | chr8:47049142-47049269 | K562 | blood: | n/a | n/a |
3 | ATF1 | chr8:47263663-47264034 | K562 | blood: | n/a | n/a |
4 | ATF1 | chr8:47368426-47368796 | K562 | blood: | n/a | n/a |
5 | ATF1 | chr8:46957931-46958134 | K562 | blood: | n/a | n/a |
6 | ATF1 | chr8:47548283-47548344 | K562 | blood: | n/a | n/a |
7 | ATF1 | chr8:47551373-47551428 | K562 | blood: | n/a | n/a |
8 | ATF2 | chr8:47829248-47829745 | GM12878 | blood: | n/a | n/a |
9 | ATF3 | chr8:47529101-47529363 | K562 | blood: | n/a | n/a |
10 | BACH1 | chr8:46947654-46948010 | K562 | blood: | n/a | n/a |
11 | BACH1 | chr8:47770297-47770313 | H1-hESC | embryonic stem cell: | n/a | n/a |
12 | BACH1 | chr8:47750627-47750683 | H1-hESC | embryonic stem cell: | n/a | n/a |
13 | BACH1 | chr8:47536608-47536724 | K562 | blood: | n/a | n/a |
14 | BATF | chr8:47742166-47742315 | GM12878 | blood: | n/a | n/a |
15 | BATF | chr8:47742552-47742702 | GM12878 | blood: | n/a | n/a |
16 | BATF | chr8:47829329-47829717 | GM12878 | blood: | n/a | n/a |
17 | BATF | chr8:47742058-47742352 | GM12878 | blood: | n/a | n/a |
18 | BATF | chr8:47742543-47742780 | GM12878 | blood: | n/a | n/a |
19 | BATF | chr8:47738438-47738681 | GM12878 | blood: | n/a | chr8:47738534-47738545 |
20 | BATF | chr8:47741055-47741204 | GM12878 | blood: | n/a | n/a |
21 | BCL11A | chr8:47742011-47742327 | GM12878 | blood: | n/a | n/a |
22 | BCL11A | chr8:47742558-47742696 | GM12878 | blood: | n/a | n/a |
23 | BCL11A | chr8:46951900-46952080 | GM12878 | blood: | n/a | n/a |
24 | BCL11A | chr8:47829368-47829677 | GM12878 | blood: | n/a | chr8:47829442-47829455 chr8:47829439-47829452 chr8:47829438-47829451 |
25 | BCL11A | chr8:47742493-47742715 | GM12878 | blood: | n/a | n/a |
26 | BCL11A | chr8:47741063-47741196 | GM12878 | blood: | n/a | n/a |
27 | BCL11A | chr8:47742173-47742308 | GM12878 | blood: | n/a | n/a |
28 | BCL11A | chr8:47829333-47829579 | GM12878 | blood: | n/a | chr8:47829442-47829455 chr8:47829439-47829452 chr8:47829438-47829451 |
29 | BCL11A | chr8:47741045-47741214 | GM12878 | blood: | n/a | n/a |
30 | BCLAF1 | chr8:47829316-47829770 | GM12878 | blood: | n/a | chr8:47829442-47829455 chr8:47829439-47829452 chr8:47829438-47829451 |
31 | BCLAF1 | chr8:47829262-47829615 | GM12878 | blood: | n/a | chr8:47829442-47829455 chr8:47829439-47829452 chr8:47829438-47829451 |
32 | BHLHE40 | chr8:47484595-47485045 | K562 | blood: | n/a | n/a |
33 | BHLHE40 | chr8:47010522-47010548 | GM12878 | blood: | n/a | n/a |
34 | BHLHE40 | chr8:47829225-47829768 | GM12878 | blood: | n/a | chr8:47829733-47829749 chr8:47829460-47829476 |
35 | BHLHE40 | chr8:47741998-47742438 | HepG2 | liver: | n/a | n/a |
36 | BHLHE40 | chr8:46947643-46947854 | K562 | blood: | n/a | n/a |
37 | BHLHE40 | chr8:47741043-47741216 | HepG2 | liver: | n/a | n/a |
38 | BHLHE40 | chr8:47829373-47829808 | K562 | blood: | n/a | chr8:47829733-47829749 chr8:47829460-47829476 |
39 | BHLHE40 | chr8:47570504-47570636 | K562 | blood: | n/a | n/a |
40 | BHLHE40 | chr8:47742538-47742866 | HepG2 | liver: | n/a | n/a |
41 | BHLHE40 | chr8:46943192-46943391 | K562 | blood: | n/a | n/a |
42 | BHLHE40 | chr8:47528443-47529576 | K562 | blood: | n/a | chr8:47528874-47528890 chr8:47529336-47529352 |
43 | BHLHE40 | chr8:47047525-47047640 | K562 | blood: | n/a | n/a |
44 | BHLHE40 | chr8:47424515-47424559 | GM12878 | blood: | n/a | n/a |
45 | BRCA1 | chr8:46947645-46948018 | GM12878 | blood: | n/a | n/a |
46 | BRCA1 | chr8:47128832-47128850 | HepG2 | liver: | n/a | n/a |
47 | BRCA1 | chr8:47213331-47213535 | GM12878 | blood: | n/a | n/a |
48 | BRCA1 | chr8:47829618-47829709 | GM12878 | blood: | n/a | n/a |
49 | BRCA1 | chr8:47829448-47829509 | HepG2 | liver: | n/a | n/a |
50 | BRCA1 | chr8:47828421-47828499 | GM12878 | blood: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr8:47318883-47318933 | SKMC | muscle: | n/a |
2 | chr8:47347811-47347861 | HPAEpiC | pulmonary alveolar: | n/a |
3 | chr8:47751494-47751544 | H1-hESC | embryonic stem cell: | embryo |
4 | chr8:47119035-47119085 | ECC-1 | luminal epithelium: | n/a |
5 | chr8:47015665-47015715 | T-47D | breast: | n/a |
6 | chr8:47109311-47109361 | AG10803 | skin: | n/a |
7 | chr8:47040066-47040116 | AG09319 | gingival: | n/a |
8 | chr8:47120767-47120817 | SAEC | small airway: | n/a |
9 | chr8:47318883-47318933 | SKMC | muscle: | n/a |
10 | chr8:47347811-47347861 | HPAEpiC | pulmonary alveolar: | n/a |
11 | chr8:47751494-47751544 | H1-hESC | embryonic stem cell: | embryo |
12 | chr8:47119035-47119085 | ECC-1 | luminal epithelium: | n/a |
13 | chr8:47015665-47015715 | T-47D | breast: | n/a |
14 | chr8:47109311-47109361 | AG10803 | skin: | n/a |
15 | chr8:47040066-47040116 | AG09319 | gingival: | n/a |
16 | chr8:47120767-47120817 | SAEC | small airway: | n/a |
17 | chr8:47112230-47112280 | GM12892 | blood: | n/a |
18 | chr8:47751953-47752003 | GM12891 | blood: | n/a |
19 | chr8:47529545-47529595 | MCF10A-Er-Src | breast: | n/a |
20 | chr8:47046101-47046151 | MCF10A-Er-Src | breast: | n/a |
21 | chr8:47112230-47112280 | SAEC | small airway: | n/a |
22 | chr8:47092995-47093045 | T-47D | breast: | n/a |
23 | chr8:47015868-47015918 | GM12892 | blood: | n/a |
24 | chr8:47171826-47171876 | HMEC | breast: | n/a |
25 | chr8:47527657-47527707 | HRCEpiC | kidney: | n/a |
26 | chr8:47112438-47112488 | SK-N-SH | brain: | n/a |
27 | chr8:47318907-47318957 | HRPEpiC | eye: | n/a |
28 | chr8:47329505-47329555 | NHBE | bronchial: | n/a |
29 | chr8:47046101-47046151 | NT2-D1 | testis: | n/a |
30 | chr8:46951404-46951454 | HEK293 | kidney: | embryo |
31 | chr8:47318832-47318882 | BJ | skin: | n/a |
32 | chr8:47318649-47318699 | CMK | blood: | n/a |
33 | chr8:47108770-47108820 | U87 | brain: | n/a |
34 | chr8:47120476-47120526 | GM06990 | blood: | n/a |
35 | chr8:47045969-47046019 | K562 | blood: | n/a |
36 | chr8:47318649-47318699 | HIPEpiC | eye: | n/a |
37 | chr8:47108992-47109042 | AG04450 | lung: | fetal |
38 | chr8:47016653-47016703 | GM19239 | blood: | n/a |
39 | chr8:47347811-47347861 | HRCEpiC | kidney: | n/a |
40 | chr8:47109311-47109361 | MCF-7 | breast: | n/a |
41 | chr8:47748435-47748485 | HCT-116 | colon: | n/a |
42 | chr8:47092995-47093045 | U87 | brain: | n/a |
43 | chr8:47145556-47145606 | HCPEpiC | choroid plexus: | n/a |
44 | chr8:47318698-47318748 | SK-N-SH | brain: | n/a |
45 | chr8:47527657-47527707 | AG09309 | skin: | n/a |
46 | chr8:47015854-47015904 | CMK | blood: | n/a |
47 | chr8:47174057-47174107 | U87 | brain: | n/a |
48 | chr8:47529545-47529595 | HRPEpiC | eye: | n/a |
49 | chr8:47761906-47761956 | HRE | kidney: | n/a |
50 | chr8:47040066-47040116 | GM12892 | blood: | n/a |
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr8:47618289..47619061-chr8:47868266..47869014,2 | MCF-7 | breast: | |
2 | chr8:46940855..46941726-chr8:47130252..47130754,2 | K562 | blood: | |
3 | chr8:47515437..47518605-chr8:47528973..47530959,3 | K562 | blood: | |
4 | chr8:47827930..47830534-chr8:47872091..47874048,2 | K562 | blood: | |
5 | chr8:47512649..47514644-chr8:47529072..47530746,2 | K562 | blood: | |
6 | chr8:47491632..47493538-chr8:47505350..47507971,2 | K562 | blood: | |
7 | chr8:47517410..47521817-chr8:47524226..47528650,6 | K562 | blood: | |
8 | chr8:47152207..47152786-chr8:47399264..47399945,2 | MCF-7 | breast: | |
9 | chr8:47848954..47851708-chr8:48172110..48173812,2 | MCF-7 | breast: | |
10 | chr8:46948914..46951388-chr8:46959571..46961840,2 | K562 | blood: | |
11 | chr8:47103663..47106274-chr8:47108285..47110930,2 | K562 | blood: | |
12 | chr8:47515437..47518605-chr8:47528973..47530959,3 | K562 | blood: | |
13 | chr8:47524927..47529861-chr8:47530508..47536088,6 | K562 | blood: | |
14 | chr8:47487702..47490248-chr8:47515594..47517867,2 | K562 | blood: | |
15 | chr8:47144016..47144925-chr8:47484500..47485152,3 | MCF-7 | breast: | |
16 | chr8:47828970..47829945-chr8:47868388..47869115,3 | MCF-7 | breast: | |
17 | chr8:47168205..47168775-chr8:47479656..47480472,2 | MCF-7 | breast: | |
18 | chr8:47828029..47830858-chr8:47832591..47835013,2 | MCF-7 | breast: | |
19 | chr8:47512649..47514644-chr8:47529072..47530746,2 | K562 | blood: | |
20 | chr8:46940678..46941746-chr8:47130003..47131748,8 | MCF-7 | breast: | |
21 | chr8:47619682..47620259-chr8:47831736..47832439,2 | MCF-7 | breast: | |
22 | chr8:47619682..47620259-chr8:47831736..47832439,2 | MCF-7 | breast: | |
23 | chr8:47059851..47061946-chr8:47064644..47066356,2 | MCF-7 | breast: | |
24 | chr8:47168205..47168775-chr8:47479656..47480472,2 | MCF-7 | breast: | |
25 | chr8:46948914..46951388-chr8:46959571..46961840,2 | K562 | blood: | |
26 | chr8:47144016..47144925-chr8:47484500..47485152,3 | MCF-7 | breast: | |
27 | chr8:47487702..47490248-chr8:47515594..47517867,2 | K562 | blood: | |
28 | chr8:47152207..47152786-chr8:47399264..47399945,2 | MCF-7 | breast: | |
29 | chr8:47528106..47530039-chr8:47536064..47537656,2 | MCF-7 | breast: | |
30 | chr7:97501587..97502366-chr8:47529051..47529557,3 | HCT-116 | colon: | |
31 | chr8:47506585..47508657-chr8:47510206..47513067,2 | K562 | blood: | |
32 | chr8:47491632..47493538-chr8:47505350..47507971,2 | K562 | blood: | |
33 | chr8:47619331..47620431-chr8:47868217..47869326,4 | MCF-7 | breast: | |
34 | chr19:35614212..35616054-chr8:47337776..47339296,2 | MCF-7 | breast: | |
35 | chr8:47519082..47521588-chr8:47524616..47530066,4 | K562 | blood: | |
36 | chr8:47103663..47106274-chr8:47108285..47110930,2 | K562 | blood: | |
37 | chr7:97495363..97496869-chr8:47517938..47519464,2 | K562 | blood: | |
38 | chr8:47059851..47061946-chr8:47064644..47066356,2 | MCF-7 | breast: | |
39 | chr8:46850638..46851140-chr8:47405865..47406365,2 | MCF-7 | breast: | |
40 | chr8:47827930..47831126-chr8:47870805..47874048,3 | K562 | blood: | |
41 | chr2:86830620..86831120-chr8:47284541..47285069,2 | MCF-7 | breast: | |
42 | chr2:133016687..133017416-chr8:46947342..46948320,4 | MCF-7 | breast: | |
43 | chr8:47619541..47620262-chr8:47868295..47869178,3 | MCF-7 | breast: | |
44 | chr8:47829182..47829917-chr8:47868447..47869168,4 | MCF-7 | breast: | |
45 | chr8:47829086..47829943-chr8:47868391..47869236,3 | K562 | blood: | |
46 | chr8:47506585..47508657-chr8:47510206..47513067,2 | K562 | blood: | |
47 | chr8:47484279..47485112-chr8:47579488..47580411,3 | MCF-7 | breast: | |
48 | chr8:47618307..47619237-chr8:47916938..47917469,2 | MCF-7 | breast: | |
49 | chr8:47528106..47530039-chr8:47536064..47537656,2 | MCF-7 | breast: | |
50 | chr8:47484279..47485112-chr8:47579488..47580411,3 | MCF-7 | breast: |
No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-RP11-1134I14.8.1-3 | chr8:47748371-47748420 | NONHSAT126415 |
2 | lnc-RP11-1134I14.8.1-3 | chr8:47757651-47757703 | NR_027013 |
3 | lnc-RP11-1134I14.8.1-3 | chr8:47752508-47752557 | NONHSAT126421 |
4 | lnc-RP11-350F16.2.1-2 | chr8:47722340-47723308 | XLOC_007078 |
5 | lnc-RP11-1134I14.8.1-3 | chr8:47753899-47753974 | ENSG00000253314.1 |
6 | lnc-RP11-350F16.2.1-3 | chr8:47862330-47862558 | NONHSAT126427 |
7 | lnc-RP11-1134I14.8.1-3 | chr8:47765729-47765833 | ENSG00000253314.1 |
8 | lnc-RP11-1134I14.8.1-3 | chr8:47754972-47755048 | NONHSAT126415 |
9 | lnc-RP11-1134I14.8.1-3 | chr8:47759598-47759722 | ENSG00000253314.1 |
10 | lnc-RP11-1134I14.8.1-3 | chr8:47752508-47752557 | NR_027013 |
11 | lnc-RP11-1134I14.8.1-3 | chr8:47752497-47752557 | ENSG00000253314.1 |
12 | lnc-RP11-1134I14.8.1-3 | chr8:47752517-47752557 | ENSG00000253314.1 |
13 | lnc-LINC00293-4 | chr8:47462233-47462424 | NONHSAT126406 |
14 | lnc-RP11-350F16.2.1-4 | chr8:47749200-47750328 | NONHSAT126416 |
15 | lnc-RP11-1134I14.8.1-3 | chr8:47759598-47759722 | NONHSAT126419 |
16 | lnc-RP11-1134I14.8.1-3 | chr8:47753899-47753974 | ENSG00000253314.1 |
17 | lnc-RP11-1134I14.8.1-3 | chr8:47752667-47752748 | NONHSAT126419 |
18 | lnc-LINC00293-4 | chr8:47460711-47460990 | NONHSAT126406 |
19 | lnc-RP11-1134I14.8.1-3 | chr8:47762290-47762365 | NONHSAT126420 |
20 | lnc-RP11-1134I14.8.1-3 | chr8:47752667-47752748 | ENSG00000253314.1 |
21 | lnc-RP11-1134I14.8.1-3 | chr8:47759598-47759722 | NR_027013 |
22 | lnc-RP11-1134I14.8.1-3 | chr8:47760406-47761815 | NONHSAT126419 |
23 | lnc-RP11-1134I14.8.1-3 | chr8:47752438-47752557 | ENSG00000253314.1 |
24 | lnc-RP11-1134I14.8.1-3 | chr8:47752667-47752748 | NONHSAT126421 |
25 | lnc-RP11-1134I14.8.1-3 | chr8:47754972-47755048 | ENSG00000253314.1 |
26 | lnc-RP11-1134I14.8.1-3 | chr8:47753899-47753974 | ENSG00000253314.1 |
27 | lnc-RP11-350F16.2.1-5 | chr8:47738850-47740031 | NONHSAT126413 |
28 | lnc-RP11-1134I14.8.1-3 | chr8:47759598-47759722 | ENSG00000253314.1 |
29 | lnc-RP11-1134I14.8.1-3 | chr8:47754972-47755048 | NR_027013 |
30 | lnc-RP11-1134I14.8.1-3 | chr8:47754972-47755048 | NONHSAT126420 |
31 | lnc-RP11-350F16.2.1-3 | chr8:47863285-47863520 | NONHSAT126427 |
32 | lnc-RP11-1134I14.8.1-3 | chr8:47760406-47760523 | ENSG00000253314.1 |
33 | lnc-RP11-1134I14.8.1-3 | chr8:47753899-47753974 | NONHSAT126421 |
34 | lnc-RP11-1134I14.8.1-3 | chr8:47754972-47755048 | ENSG00000253314.1 |
35 | lnc-LINC00293-2 | chr8:47704231-47704686 | NONHSAT126410 |
36 | lnc-RP11-1134I14.8.1-3 | chr8:47766092-47766216 | NONHSAT126424 |
37 | lnc-RP11-1134I14.8.1-3 | chr8:47752667-47752748 | NONHSAT126420 |
38 | lnc-RP11-1134I14.8.1-3 | chr8:47761071-47761152 | ENSG00000253314.1 |
39 | lnc-RP11-1134I14.8.1-3 | chr8:47762290-47762365 | ENSG00000253314.1 |
40 | lnc-LINC00293-1 | chr8:47840258-47840454 | ENSG00000253745.1 |
41 | lnc-RP11-1134I14.8.1-3 | chr8:47752508-47752557 | NONHSAT126420 |
42 | lnc-RP11-1134I14.8.1-3 | chr8:47759598-47759688 | ENSG00000253314.1 |
43 | lnc-RP11-1134I14.8.1-3 | chr8:47759598-47759722 | NONHSAT126420 |
44 | lnc-RP11-1134I14.8.1-3 | chr8:47765729-47765991 | NONHSAT126423 |
45 | lnc-RP11-350F16.2.1-1 | chr8:47845800-47846068 | ENSG00000253782.1 |
46 | lnc-RP11-1134I14.8.1-3 | chr8:47755811-47755918 | ENSG00000253314.1 |
47 | lnc-RP11-1134I14.8.1-3 | chr8:47765729-47765991 | NONHSAT126420 |
48 | lnc-RP11-1134I14.8.1-3 | chr8:47760406-47760523 | NONHSAT126415 |
49 | lnc-LINC00293-2 | chr8:47703687-47703942 | NONHSAT126410 |
50 | lnc-RP11-350F16.2.1-2 | chr8:47730635-47730705 | XLOC_007078 |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000228984 | TF binding region |
ENSG00000253803 | TF binding region |
MTND6P20 | TF binding region |
ENSG00000253782 | TF binding region |
TRIM60P15 | TF binding region |
LINC00293 | TF binding region |
ENSG00000253745 | TF binding region |
RNU6-656P | TF binding region |
ASNSP4 | TF binding region |
ENSG00000254118 | TF binding region |
ENSG00000255915 | TF binding region |
HSPA8P13 | TF binding region |
ENSG00000254070 | TF binding region |
ASNSP1 | TF binding region |
MTND1P7 | TF binding region |
ENSG00000228984 | CpG island |
ENSG00000253803 | CpG island |
MTND6P20 | CpG island |
ENSG00000253782 | CpG island |
TRIM60P15 | CpG island |
LINC00293 | CpG island |
ENSG00000253745 | CpG island |
RNU6-656P | CpG island |
ASNSP4 | CpG island |
ENSG00000254118 | CpG island |
ENSG00000255915 | CpG island |
HSPA8P13 | CpG island |
ENSG00000254070 | CpG island |
ASNSP1 | CpG island |
MTND1P7 | CpG island |
ENSG00000164808 | chromatin interactions |
ENSG00000070669 | chromatin interactions |
ENSG00000253745 | chromatin interactions |
ENSG00000248498 | chromatin interactions |
PPARGC1A | miRNA target sites |
USO1 | miRNA target sites |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs529778418 | chr8:46943603-46943604 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
2 | rs564635486 | chr8:46943667-46943668 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
3 | rs575841623 | chr8:46943683-46943684 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
4 | rs137871006 | chr8:46943705-46943706 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
5 | rs548280047 | chr8:46943716-46943717 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
6 | rs529384064 | chr8:46943717-46943718 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
7 | rs375763372 | chr8:46943726-46943727 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
8 | rs62501955 | chr8:46943738-46943739 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
9 | rs569308583 | chr8:46943805-46943806 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
10 | rs193263736 | chr8:46943807-46943808 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
11 | rs182724414 | chr8:46943813-46943814 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
12 | rs571489320 | chr8:46943836-46943837 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
13 | rs534073833 | chr8:46943848-46943849 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
14 | rs142284235 | chr8:46943851-46943852 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
15 | rs367937878 | chr8:46943854-46943855 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
16 | rs567255320 | chr8:46943883-46943884 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
17 | rs187530530 | chr8:46943893-46943894 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
18 | rs556006560 | chr8:46943907-46943908 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
19 | rs370794679 | chr8:46943908-46943909 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
20 | rs576039730 | chr8:46943922-46943923 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
21 | rs114829220 | chr8:46943930-46943931 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
22 | rs558329154 | chr8:46943945-46943946 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
23 | rs199808523 | chr8:46943949-46943950 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
24 | rs11992281 | chr8:46943953-46943954 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
25 | rs560382120 | chr8:46943961-46943962 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
26 | rs200157313 | chr8:46943982-46943983 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
27 | rs573722552 | chr8:46943984-46943985 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
28 | rs150076227 | chr8:46946205-46946206 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
29 | rs566331813 | chr8:46946260-46946261 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
30 | rs138332849 | chr8:46946270-46946271 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
31 | rs548283112 | chr8:46946282-46946283 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
32 | rs377614575 | chr8:46946311-46946312 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
33 | rs568590589 | chr8:46946325-46946326 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
34 | rs189228601 | chr8:46946351-46946352 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
35 | rs557151982 | chr8:46946362-46946363 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
36 | rs149638118 | chr8:46946399-46946400 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
37 | rs539217670 | chr8:46946430-46946431 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
38 | rs112466793 | chr8:46946436-46946437 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
39 | rs117111775 | chr8:46946444-46946445 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
40 | rs181200812 | chr8:46946445-46946446 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
41 | rs17061620 | chr8:46946464-46946465 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
42 | rs575331526 | chr8:46946490-46946491 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
43 | rs144363073 | chr8:46946510-46946511 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
44 | rs186477608 | chr8:46946544-46946545 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
45 | rs115749848 | chr8:46946545-46946546 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
46 | rs532756523 | chr8:46946552-46946553 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
47 | rs546380647 | chr8:46946588-46946589 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
48 | rs80209561 | chr8:46946596-46946597 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
49 | rs77583023 | chr8:46946626-46946627 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
50 | rs191487978 | chr8:46946627-46946628 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Cancer | 16751803 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Wilms tumour | 21544195 | CNVD |
Gastric cancer | 17908304 | CNVD |
Melanoma | 18172304 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Autism | 19415332 | CNVD |
Malaria | 21533027 | CNVD |
Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
Esophageal cancer | 21851588 | CNVD |
Acute promyelocytic leukemia | 19109227 | CNVD |
Breast cancer | 21245420 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Oral cancer | 21386901 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Liver carcinoma | 19366792 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Seminomas | 18059402 | CNVD |
Autism | 22495311 | CNVD |
Acute lymphoblastic leukemia | 21390130 | CNVD |
Lung cancer | 18438408 | CNVD |
Pancreatic cancer | 21811587 | CNVD |
Multiple myeloma | 16461302 | CNVD |
Developmental delay | 21373258 | CNVD |
Thyroid cancer | 19087340 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Breast cancer | 17603634 | CNVD |
Pancreatic endocrine tumor | 17639061 | CNVD |
Disorders of sex development | 21048976 | CNVD |
Testicular cancer | 18059402 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Salivary gland tumor | 18059337 | CNVD |
Breast cancer | 17133270 | CNVD |
Breast cancer | 21509527 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
Breast cancer | 21858162 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Acute lymphoblastic leukemia | 21248843 | CNVD |
Cancer | 20164919 | CNVD |
primary effusion lymphomas | 17116491 | CNVD |
Esophageal cancer | 20955586 | CNVD |
abnormal development | 18461090 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Cancer | 20164920 | CNVD |
low-grade B-cell lymphoma tumor | 18367492 | CNVD |
Medulloblastoma | 20607354 | CNVD |
Uveal melanoma | 21693616 | CNVD |
Langer-Giedion syndrome | 22283845 | CNVD |
Cancer | 21637783 | CNVD |
Splenic marginal zone lymphoma | 21957467 | CNVD |
Breast cancer | 20632083 | CNVD |
Breast cancer | 19602461 | CNVD |
Cancer | 22429812 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Oral cancer | 19627613 | CNVD |
Prostate cancer | 21088497 | CNVD |
colon cancer | 17210682 | CNVD |
Breast cancer | 21264507 | CNVD |
Breast cancer | 22028636 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Breast cancer | 20409316 | CNVD |
Esophageal squamous carcinoma | 18350619 | CNVD |
Gastric cancer | 17167181 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Breast cancer | 16461572 | CNVD |
Human rectal carcinomas | 16397240 | CNVD |
Medulloblastoma | 16968546 | CNVD |
head and neck squamous cell carcinoma | 18028549 | CNVD |
Breast cancer | 17001317 | CNVD |
Schizophrenia | 20967226 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Breast cancer | 22522925 | CNVD |
Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
Autism | 20841430 | CNVD |
Tetralogy of Fallot | 22912587 | CNVD |
Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
Congenital anomalies of the kidney and urinary tract | 18316590 | CNVD |
early-passage human iPS cells | 21368824 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr8:46943600-46944000 | ZNF genes & repeats | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
2 | chr8:46946200-46949000 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |
3 | chr8:46947000-46951000 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
4 | chr8:46947200-46951000 | ZNF genes & repeats | HUES64 Cell Line | embryonic stem cell |
5 | chr8:46947400-46948000 | ZNF genes & repeats | iPS DF 6.9 Cell Line | embryonic stem cell |
6 | chr8:46947400-46948400 | ZNF genes & repeats | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
7 | chr8:46947600-46947800 | Bivalent Enhancer | Brain Dorsolateral Prefrontal Cortex | brain |
8 | chr8:46947600-46948000 | ZNF genes & repeats | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
9 | chr8:46947600-46948000 | ZNF genes & repeats | H1 Derived Mesenchymal Stem Cells | ES cell derived |
10 | chr8:46947600-46948000 | ZNF genes & repeats | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
11 | chr8:46947600-46948000 | ZNF genes & repeats | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
12 | chr8:46947600-46948000 | ZNF genes & repeats | iPS-15b Cell Line | embryonic stem cell |
13 | chr8:46947600-46948000 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
14 | chr8:46947600-46948000 | ZNF genes & repeats | Primary T cells from cord blood | blood |
15 | chr8:46947600-46948000 | ZNF genes & repeats | Primary hematopoietic stem cells short term culture | blood |
16 | chr8:46947600-46948000 | ZNF genes & repeats | Primary T helper naive cells fromperipheralblood | blood |
17 | chr8:46947600-46948000 | ZNF genes & repeats | Primary T helper cells PMA-I stimulated | -- |
18 | chr8:46947600-46948000 | Bivalent/Poised TSS | Brain Inferior Temporal Lobe | brain |
19 | chr8:46947600-46948000 | ZNF genes & repeats | Colonic Mucosa | Colon |
20 | chr8:46947600-46948000 | ZNF genes & repeats | Colon Smooth Muscle | Colon |
21 | chr8:46947600-46948000 | ZNF genes & repeats | Duodenum Mucosa | Duodenum |
22 | chr8:46947600-46948000 | ZNF genes & repeats | Esophagus | oesophagus |
23 | chr8:46947600-46948000 | ZNF genes & repeats | Fetal Lung | lung |
24 | chr8:46947600-46948000 | Flanking Bivalent TSS/Enh | Gastric | stomach |
25 | chr8:46947600-46948000 | Flanking Bivalent TSS/Enh | Pancreas | Pancrea |
26 | chr8:46947600-46948000 | ZNF genes & repeats | Right Atrium | heart |
27 | chr8:46947600-46948000 | ZNF genes & repeats | Sigmoid Colon | Sigmoid Colon |
28 | chr8:46947600-46948000 | ZNF genes & repeats | Skeletal Muscle Female | skeletal muscle |
29 | chr8:46947600-46948000 | ZNF genes & repeats | Spleen | Spleen |
30 | chr8:46947600-46948000 | ZNF genes & repeats | Hela-S3 | cervix |
31 | chr8:46947600-46948000 | ZNF genes & repeats | NHEK | skin |
32 | chr8:46947600-46948200 | ZNF genes & repeats | H1 Cell Line | embryonic stem cell |
33 | chr8:46947600-46948200 | ZNF genes & repeats | H9 Cell Line | embryonic stem cell |
34 | chr8:46947600-46948200 | ZNF genes & repeats | HUES6 Cell Line | embryonic stem cell |
35 | chr8:46947800-46948000 | ZNF genes & repeats | Adipose Nuclei | Adipose |
36 | chr8:46947800-46948000 | Bivalent/Poised TSS | Brain Hippocampus Middle | brain |
37 | chr8:46947800-46948000 | ZNF genes & repeats | Brain Dorsolateral Prefrontal Cortex | brain |
38 | chr8:46947800-46948000 | ZNF genes & repeats | Duodenum Smooth Muscle | Duodenum |
39 | chr8:46947800-46948000 | ZNF genes & repeats | NHLF | lung |
40 | chr8:46948000-46949400 | Weak transcription | Right Atrium | heart |
41 | chr8:46948000-46950200 | Weak transcription | Primary T cells from cord blood | blood |
42 | chr8:46948000-46950400 | Weak transcription | Primary T helper cells PMA-I stimulated | -- |
43 | chr8:46948000-46950400 | Weak transcription | Hela-S3 | cervix |
44 | chr8:46948000-46950600 | Weak transcription | Colon Smooth Muscle | Colon |
45 | chr8:46949400-46949600 | Enhancers | Primary T helper naive cells from peripheral blood | blood |
46 | chr8:46949600-46950400 | Weak transcription | Primary T helper naive cells from peripheral blood | blood |
47 | chr8:46950000-46952200 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
48 | chr8:46950000-46952200 | ZNF genes & repeats | Monocytes-CD14+_RO01746 | blood |
49 | chr8:46950200-46950400 | Flanking Active TSS | Primary hematopoietic stem cells | blood |
50 | chr8:46950200-46950400 | Weak transcription | Right Atrium | heart |