Variant report
Variant | nsv1064239 |
---|---|
Chromosome Location | chr16:32872263-33375872 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:4043)
- CpG islands (count:2135)
- Chromatin interactive region (count:8)
- LncRNA region (count:38)
- 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 | chr16:33293788-33294209 | HepG2 | liver: | n/a | n/a |
2 | ARID3A | chr16:32876710-32876890 | HepG2 | liver: | n/a | n/a |
3 | ATF1 | chr16:32873309-32873509 | K562 | blood: | n/a | n/a |
4 | ATF3 | chr16:32909214-32909368 | K562 | blood: | n/a | n/a |
5 | ATF3 | chr16:33240952-33241267 | HepG2 | liver: | n/a | n/a |
6 | ATF3 | chr16:33293710-33294426 | HepG2 | liver: | n/a | n/a |
7 | ATF3 | chr16:32876765-32876921 | K562 | blood: | n/a | n/a |
8 | ATF3 | chr16:32993758-32993903 | K562 | blood: | n/a | n/a |
9 | BACH1 | chr16:33293845-33294023 | K562 | blood: | n/a | n/a |
10 | BATF | chr16:33092972-33093212 | GM12878 | blood: | n/a | n/a |
11 | BATF | chr16:33369625-33369914 | GM12878 | blood: | n/a | n/a |
12 | BATF | chr16:33046042-33046353 | GM12878 | blood: | n/a | n/a |
13 | BATF | chr16:33002452-33002671 | GM12878 | blood: | n/a | n/a |
14 | BATF | chr16:33087692-33087910 | GM12878 | blood: | n/a | n/a |
15 | BATF | chr16:33364185-33364651 | GM12878 | blood: | n/a | chr16:33364440-33364451 |
16 | BATF | chr16:32909165-32909547 | GM12878 | blood: | n/a | n/a |
17 | BATF | chr16:33091390-33091661 | GM12878 | blood: | n/a | n/a |
18 | BATF | chr16:33052317-33052590 | GM12878 | blood: | n/a | n/a |
19 | BATF | chr16:33082292-33082557 | GM12878 | blood: | n/a | n/a |
20 | BATF | chr16:33365611-33366045 | GM12878 | blood: | n/a | n/a |
21 | BATF | chr16:33048704-33048907 | GM12878 | blood: | n/a | n/a |
22 | BATF | chr16:33165745-33165958 | GM12878 | blood: | n/a | n/a |
23 | BATF | chr16:33358267-33358522 | GM12878 | blood: | n/a | n/a |
24 | BATF | chr16:33087718-33087908 | GM12878 | blood: | n/a | n/a |
25 | BATF | chr16:33365688-33366003 | GM12878 | blood: | n/a | n/a |
26 | BATF | chr16:33042432-33043800 | GM12878 | blood: | n/a | n/a |
27 | BATF | chr16:33328184-33328483 | GM12878 | blood: | n/a | chr16:33328300-33328311 |
28 | BATF | chr16:33041862-33042137 | GM12878 | blood: | n/a | n/a |
29 | BATF | chr16:33331077-33331251 | GM12878 | blood: | n/a | n/a |
30 | BATF | chr16:33044491-33044914 | GM12878 | blood: | n/a | chr16:33044727-33044738 |
31 | BATF | chr16:33046034-33046402 | GM12878 | blood: | n/a | n/a |
32 | BATF | chr16:33044181-33044885 | GM12878 | blood: | n/a | chr16:33044727-33044738 |
33 | BATF | chr16:33052311-33052561 | GM12878 | blood: | n/a | n/a |
34 | BATF | chr16:33042934-33043504 | GM12878 | blood: | n/a | n/a |
35 | BATF | chr16:33077153-33077342 | GM12878 | blood: | n/a | n/a |
36 | BATF | chr16:32944783-32945170 | GM12878 | blood: | n/a | n/a |
37 | BATF | chr16:33042313-33042791 | GM12878 | blood: | n/a | n/a |
38 | BATF | chr16:33051517-33051717 | GM12878 | blood: | n/a | n/a |
39 | BATF | chr16:33043855-33044053 | GM12878 | blood: | n/a | n/a |
40 | BATF | chr16:32993933-32994319 | GM12878 | blood: | n/a | n/a |
41 | BATF | chr16:33020846-33021096 | GM12878 | blood: | n/a | n/a |
42 | BATF | chr16:33370078-33370545 | GM12878 | blood: | n/a | n/a |
43 | BATF | chr16:32951300-32951515 | GM12878 | blood: | n/a | chr16:32951446-32951457 |
44 | BATF | chr16:33002463-33002715 | GM12878 | blood: | n/a | n/a |
45 | BATF | chr16:33051640-33051829 | GM12878 | blood: | n/a | n/a |
46 | BCL11A | chr16:33359781-33360055 | GM12878 | blood: | n/a | n/a |
47 | BCL11A | chr16:33329783-33329955 | GM12878 | blood: | n/a | n/a |
48 | BCL11A | chr16:33091379-33091698 | GM12878 | blood: | n/a | n/a |
49 | BCL11A | chr16:33040538-33040783 | GM12878 | blood: | n/a | chr16:33040559-33040572 chr16:33040559-33040572 |
50 | BCL11A | chr16:33052308-33052584 | GM12878 | blood: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr16:33356843-33356893 | Hepatocyte | liver: | n/a |
2 | chr16:33006163-33006213 | HCF | heart: | n/a |
3 | chr16:33318910-33318960 | HCT-116 | colon: | n/a |
4 | chr16:33298952-33299002 | GM06990 | blood: | n/a |
5 | chr16:33357426-33357476 | SKMC | muscle: | n/a |
6 | chr16:33071657-33071707 | Hela-S3 | cervix: | n/a |
7 | chr16:33374131-33374181 | HRPEpiC | eye: | n/a |
8 | chr16:32898433-32898483 | AG10803 | skin: | n/a |
9 | chr16:33038922-33038972 | AoSMC | blood vessel: | n/a |
10 | chr16:33039897-33039947 | Caco-2 | colon: | n/a |
11 | chr16:33044270-33044320 | SAEC | small airway: | n/a |
12 | chr16:33356843-33356893 | HCT-116 | colon: | n/a |
13 | chr16:33357151-33357201 | K562 | blood: | n/a |
14 | chr16:33374161-33374211 | GM19239 | blood: | n/a |
15 | chr16:32895392-32895442 | GM12892 | blood: | n/a |
16 | chr16:33358227-33358277 | BE2_C | brain: | n/a |
17 | chr16:32937057-32937107 | NH-A | brain: | n/a |
18 | chr16:33357151-33357201 | ECC-1 | luminal epithelium: | n/a |
19 | chr16:33038922-33038972 | HEK293 | kidney: | embryo |
20 | chr16:33038657-33038707 | GM12891 | blood: | n/a |
21 | chr16:33356843-33356893 | Caco-2 | colon: | n/a |
22 | chr16:32940983-32941033 | HCT-116 | colon: | n/a |
23 | chr16:33319362-33319412 | CMK | blood: | n/a |
24 | chr16:33318910-33318960 | HL-60 | blood: | n/a |
25 | chr16:33374028-33374078 | HCPEpiC | choroid plexus: | n/a |
26 | chr16:33319362-33319412 | AG09309 | skin: | n/a |
27 | chr16:32936895-32936945 | SK-N-SH | brain: | n/a |
28 | chr16:33318910-33318960 | SK-N-SH_RA | brain: | n/a |
29 | chr16:33302523-33302573 | HIPEpiC | eye: | n/a |
30 | chr16:33317852-33317902 | HCPEpiC | choroid plexus: | n/a |
31 | chr16:33319610-33319660 | HRE | kidney: | n/a |
32 | chr16:32934020-32934070 | PrEC | prostate: | n/a |
33 | chr16:33006163-33006213 | Hela-S3 | cervix: | n/a |
34 | chr16:33038657-33038707 | HRCEpiC | kidney: | n/a |
35 | chr16:33374131-33374181 | IMR90 | lung: | fetal |
36 | chr16:33259538-33259588 | AoSMC | blood vessel: | n/a |
37 | chr16:33302523-33302573 | AoSMC | blood vessel: | n/a |
38 | chr16:33297688-33297738 | AG09319 | gingival: | n/a |
39 | chr16:32937057-32937107 | NHDF-neo | bronchial: | n/a |
40 | chr16:33318910-33318960 | T-47D | breast: | n/a |
41 | chr16:33319353-33319403 | SKMC | muscle: | n/a |
42 | chr16:33040275-33040325 | MCF-7 | breast: | n/a |
43 | chr16:32936895-32936945 | HCPEpiC | choroid plexus: | n/a |
44 | chr16:33038657-33038707 | AG09319 | gingival: | n/a |
45 | chr16:32936664-32936714 | NB4 | blood: | n/a |
46 | chr16:33038657-33038707 | NHBE | bronchial: | n/a |
47 | chr16:33374131-33374181 | HPAEpiC | pulmonary alveolar: | n/a |
48 | chr16:33040275-33040325 | HEK293 | kidney: | embryo |
49 | chr16:33319610-33319660 | SKMC | muscle: | n/a |
50 | chr16:33070632-33070682 | AoSMC | blood vessel: | n/a |
(count:8 , 50 per page) page:
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr16:32876653..32877208-chr16:33618895..33619446,2 | MCF-7 | breast: | |
2 | chr16:32993835..32994354-chr16:33619041..33619624,2 | MCF-7 | breast: | |
3 | chr16:33357445..33357965-chrX:123093937..123094556,2 | MCF-7 | breast: | |
4 | chr16:33374454..33377112-chr16:33390580..33392185,2 | MCF-7 | breast: | |
5 | chr16:33362493..33363428-chr3:73095698..73096500,2 | MCF-7 | breast: | |
6 | chr16:32951293..32951850-chr16:33618657..33619267,2 | MCF-7 | breast: | |
7 | chr16:32876380..32877212-chr16:32951315..32951834,2 | MCF-7 | breast: | |
8 | chr16:32876380..32877212-chr16:32951315..32951834,2 | MCF-7 | breast: |
(count:38 , 50 per page) page:
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-AC136428.1.1-6 | chr16:33217752-33218127 | ENSG00000261507.1 |
2 | lnc-RP11-1277H1.1.1-11 | chr16:32926395-32926440 | NONHSAT142052 |
3 | lnc-RP11-1277H1.1.1-4 | chr16:32897547-32898093 | ENSG00000214614.2 |
4 | lnc-CTD-2144E22.5.1-37 | chr16:33262848-33262894 | NONHSAT142077 |
5 | lnc-RP11-1277H1.1.1-4 | chr16:32899139-32900195 | ENSG00000214614.2 |
6 | lnc-AC136428.1.1-7 | chr16:33206606-33206675 | ENSG00000260419.1 |
7 | lnc-AC136428.1.1-4 | chr16:33337232-33337443 | ENSG00000260626.1 |
8 | lnc-RP11-1277H1.1.1-2 | chr16:33342943-33343609 | XLOC_011696 |
9 | lnc-RP11-1277H1.1.1-4 | chr16:32898658-32899949 | ENSG00000214614.2 |
10 | lnc-AC136428.1.1-5 | chr16:33271714-33272098 | ENSG00000261009.1 |
11 | lnc-AC136428.1.1-6 | chr16:33231506-33231583 | ENSG00000261507.1 |
12 | lnc-RP11-1277H1.1.1-4 | chr16:32897778-32897912 | ENSG00000214614.2 |
13 | lnc-RP11-1277H1.1.1-1 | chr16:33145040-33145820 | ENSG00000261682.1 |
14 | lnc-RP11-1277H1.1.1-11 | chr16:32926544-32926857 | NONHSAT142052 |
15 | lnc-TP53TG3-17 | chr16:32943089-32943890 | NONHSAT142053 |
16 | lnc-TP53TG3-5 | chr16:33102620-33102910 | ENSG00000260141.1 |
17 | lnc-AC136428.1.1-6 | chr16:33216015-33216055 | ENSG00000260827.1 |
18 | lnc-RP11-1277H1.1.1-4 | chr16:32896515-32896578 | ENSG00000214614.2 |
19 | lnc-RP11-1277H1.1.1-9 | chr16:32989910-32990212 | NONHSAT142058 |
20 | lnc-AC136428.1.1-7 | chr16:33202882-33203073 | ENSG00000260419.1 |
21 | lnc-AC136428.1.1-4 | chr16:33336283-33336630 | ENSG00000260626.1 |
22 | lnc-CTD-2144E22.5.1-37 | chr16:33263182-33263470 | NONHSAT142077 |
23 | lnc-AC136428.1.1-5 | chr16:33272554-33272594 | ENSG00000261009.1 |
24 | lnc-RP11-1277H1.1.1-3 | chr16:33006858-33006938 | ENSG00000260921.1 |
25 | lnc-RP11-1277H1.1.1-7 | chr16:33141556-33141763 | NONHSAT142067 |
26 | lnc-RP11-1277H1.1.1-9 | chr16:32989782-32989827 | NONHSAT142058 |
27 | lnc-RP11-1277H1.1.1-4 | chr16:32897796-32898008 | ENSG00000214614.2 |
28 | lnc-AC136428.1.1-6 | chr16:33215175-33215559 | ENSG00000260827.1 |
29 | lnc-TP53TG3-5 | chr16:33054930-33055459 | ENSG00000260141.1 |
30 | lnc-AC136428.1.1-6 | chr16:33231324-33231409 | ENSG00000261507.1 |
31 | lnc-RP11-1277H1.1.1-4 | chr16:32898658-32898880 | ENSG00000214614.2 |
32 | lnc-RP11-1277H1.1.1-3 | chr16:33007112-33007188 | ENSG00000260921.1 |
33 | lnc-RP11-1277H1.1.1-2 | chr16:33340193-33341795 | XLOC_011696 |
34 | lnc-RP11-1277H1.1.1-4 | chr16:32898371-32898495 | ENSG00000214614.2 |
35 | lnc-RP11-1277H1.1.1-4 | chr16:32898658-32898850 | ENSG00000214614.2 |
36 | lnc-CTD-2144E22.5.1-37 | chr16:33263683-33264006 | NONHSAT142077 |
37 | lnc-RP11-1277H1.1.1-1 | chr16:33140637-33140721 | ENSG00000261682.1 |
38 | lnc-RP11-1277H1.1.1-3 | chr16:33007600-33008091 | ENSG00000260921.1 |
No data |
No data |
Variant related genes | Relation type |
---|---|
IGHV3OR16-8 | TF binding region |
ENSG00000260414 | TF binding region |
ENSG00000263277 | TF binding region |
ENSG00000261682 | TF binding region |
ENSG00000261466 | TF binding region |
ENSG00000261405 | TF binding region |
ENSG00000261507 | TF binding region |
ENSG00000260610 | TF binding region |
IGHV3OR16-15 | TF binding region |
ENSG00000261009 | TF binding region |
TP53TG3C | TF binding region |
ENSG00000263337 | TF binding region |
ENSG00000260419 | TF binding region |
ENSG00000262090 | TF binding region |
ENSG00000214614 | TF binding region |
IGHV3OR16-10 | TF binding region |
ENSG00000260047 | TF binding region |
ENSG00000260827 | TF binding region |
SLC6A10P | TF binding region |
ENSG00000261259 | TF binding region |
ENSG00000260626 | TF binding region |
IGHV1OR16-2 | TF binding region |
TP53TG3B | TF binding region |
ENSG00000263204 | TF binding region |
ENSG00000261536 | TF binding region |
IGHV3OR16-6 | TF binding region |
ENSG00000261200 | TF binding region |
ENSG00000260141 | TF binding region |
ENSG00000260921 | TF binding region |
ENSG00000260900 | TF binding region |
ENSG00000259800 | TF binding region |
IGHV1OR16-4 | TF binding region |
HERC2P8 | TF binding region |
IGHV3OR16-8 | CpG island |
ENSG00000260414 | CpG island |
ENSG00000263277 | CpG island |
ENSG00000261682 | CpG island |
ENSG00000261466 | CpG island |
ENSG00000261405 | CpG island |
ENSG00000261507 | CpG island |
ENSG00000260610 | CpG island |
IGHV3OR16-15 | CpG island |
ENSG00000261009 | CpG island |
TP53TG3C | CpG island |
ENSG00000263337 | CpG island |
ENSG00000260419 | CpG island |
ENSG00000262090 | CpG island |
ENSG00000214614 | CpG island |
IGHV3OR16-10 | CpG island |
ENSG00000260047 | CpG island |
ENSG00000260827 | CpG island |
SLC6A10P | CpG island |
ENSG00000261259 | CpG island |
ENSG00000260626 | CpG island |
IGHV1OR16-2 | CpG island |
TP53TG3B | CpG island |
ENSG00000263204 | CpG island |
ENSG00000261536 | CpG island |
IGHV3OR16-6 | CpG island |
ENSG00000261200 | CpG island |
ENSG00000260141 | CpG island |
ENSG00000260921 | CpG island |
ENSG00000260900 | CpG island |
ENSG00000259800 | CpG island |
IGHV1OR16-4 | CpG island |
HERC2P8 | CpG island |
ENSG00000101972 | chromatin interactions |
UHMK1 | miRNA target sites |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs558586481 | chr16:32876601-32876602 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
2 | rs1651608 | chr16:32876656-32876657 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
3 | rs576927644 | chr16:32876704-32876705 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
4 | rs191615604 | chr16:32876794-32876795 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
5 | rs3097301 | chr16:32876795-32876796 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
6 | rs3094331 | chr16:32876811-32876812 | ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
7 | rs3097302 | chr16:32876828-32876829 | ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
8 | rs575009382 | chr16:32876834-32876835 | ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
9 | rs542135163 | chr16:32876850-32876851 | ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
10 | rs183473680 | chr16:32876852-32876853 | ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
11 | rs527244532 | chr16:32876870-32876871 | ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
12 | rs188851544 | chr16:32876873-32876874 | ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
13 | rs564119647 | chr16:32876898-32876899 | ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
14 | rs116810617 | chr16:32876899-32876900 | ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
15 | rs201969105 | chr16:32876966-32876967 | ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
16 | rs568140224 | chr16:32877011-32877012 | Weak transcription Flanking Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
17 | rs529107996 | chr16:32877027-32877028 | Weak transcription Flanking Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
18 | rs547340685 | chr16:32877028-32877029 | Weak transcription Flanking Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
19 | rs78041799 | chr16:32877041-32877042 | Weak transcription Flanking Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
20 | rs565647352 | chr16:32877078-32877079 | Weak transcription Flanking Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
21 | rs533886515 | chr16:32877096-32877097 | Weak transcription Flanking Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
22 | rs558525447 | chr16:32877122-32877123 | Weak transcription Flanking Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
23 | rs570551302 | chr16:32877139-32877140 | Weak transcription Flanking Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
24 | rs2905124 | chr16:32877165-32877166 | Weak transcription Flanking Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
25 | rs144312071 | chr16:32877208-32877209 | Weak transcription Flanking Active TSS Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
26 | rs148453648 | chr16:32877251-32877252 | Weak transcription Flanking Active TSS Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
27 | rs1820207 | chr16:32877271-32877272 | Weak transcription Flanking Active TSS Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
28 | rs556644122 | chr16:32877292-32877293 | Weak transcription Flanking Active TSS Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
29 | rs113579091 | chr16:32877360-32877361 | Weak transcription Flanking Active TSS Active TSS | n/a | n/a | Overlapped CNVs | n/a |
30 | rs201718499 | chr16:32877363-32877364 | Weak transcription Flanking Active TSS Active TSS | n/a | n/a | Overlapped CNVs | n/a |
31 | rs11860281 | chr16:32877387-32877388 | Weak transcription Flanking Active TSS Active TSS | n/a | n/a | Overlapped CNVs | n/a |
32 | rs1989495 | chr16:32877390-32877391 | Weak transcription Flanking Active TSS Active TSS | n/a | n/a | Overlapped CNVs | n/a |
33 | rs150985109 | chr16:32877426-32877427 | Weak transcription Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
34 | rs542422673 | chr16:32877435-32877436 | Weak transcription Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
35 | rs1820772 | chr16:32877436-32877437 | Weak transcription Enhancers Flanking Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
36 | rs683980 | chr16:32877457-32877458 | Weak transcription Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
37 | rs554463055 | chr16:32877478-32877479 | Weak transcription Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
38 | rs572776713 | chr16:32877484-32877485 | Weak transcription Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
39 | rs1794032 | chr16:32877488-32877489 | Weak transcription Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
40 | rs564057930 | chr16:32877501-32877502 | Weak transcription Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
41 | rs374348342 | chr16:32877536-32877537 | Weak transcription Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
42 | rs544862473 | chr16:32877537-32877538 | Weak transcription Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
43 | rs1794031 | chr16:32877540-32877541 | Weak transcription Enhancers Flanking Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
44 | rs193216934 | chr16:32877549-32877550 | Weak transcription Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
45 | rs561838735 | chr16:32877593-32877594 | Weak transcription Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
46 | rs529039686 | chr16:32877605-32877606 | Weak transcription Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
47 | rs587210 | chr16:32877629-32877630 | Weak transcription Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
48 | rs1651609 | chr16:32877630-32877631 | Weak transcription Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
49 | rs565584578 | chr16:32877658-32877659 | Weak transcription Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
50 | rs1651610 | chr16:32877668-32877669 | Weak transcription Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Hodgkin''s lymphoma | 20651079 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Melanoma | 18172304 | CNVD |
Breast cancer | 16608533 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Breast cancer | 17133270 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Adenoid cystic carcinoma | 17372589 | CNVD |
Lung adenocarcinoma | 17086460 | CNVD |
Lung cancer | 17086460 | CNVD |
Autism | 22566537 | CNVD |
Intellectual disability | 22566537 | CNVD |
Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Astrocytoma | 17387387 | CNVD |
Breast cancer | 17603634 | CNVD |
Breast cancer | 21264507 | CNVD |
Cervical cancer | 21063398 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Acute lymphoblastic leukemia | 17690704 | CNVD |
Autism | 19415332 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
Schizophrenia | 22958593 | CNVD |
Ductal carcinoma | 22052326 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Autism | 22495311 | CNVD |
Breast cancer | 20668451 | CNVD |
Cancer | 20668451 | CNVD |
Lung cancer | 20668451 | CNVD |
Ovarian cancer | 20668451 | CNVD |
Pancreas cancer | 20668451 | CNVD |
Prostate cancer | 20668451 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Breast cancer | 21858162 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Mental retardation | 19951919 | CNVD |
Colorectal cancer | 16272173 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Breast cancer | 21785460 | CNVD |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
Breast cancer | 21990379 | CNVD |
Astrocytoma | 22246337 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Epilepsy | 22499536 | CNVD |
Attention deficit hyperactivity disorder | 21324949 | CNVD |
Austim spectrum disorder | 21302340 | CNVD |
Autism | 22513405 | CNVD |
Autism | 22958593 | CNVD |
Autism | 18184952 | CNVD |
Autism | 19966786 | CNVD |
Autism | 21394203 | CNVD |
Autism | 21969575 | CNVD |
Autism | 22241247 | CNVD |
Autism | 20970697 | CNVD |
Autism | 20942916 | CNVD |
Epilepsy | 20970697 | CNVD |
Intellectual disability | 22045946 | CNVD |
Mental retardation | 19966786 | CNVD |
Developmental delay | 20808231 | CNVD |
Obesity | 20808231 | CNVD |
Autism | 18923514 | CNVD |
Obesity | 21881559 | CNVD |
Obesity | 21956041 | CNVD |
Autism | 20659124 | CNVD |
Mental retardation | 21062444 | CNVD |
Schizophrenia | 20587603 | CNVD |
Schizophrenia | 21285140 | CNVD |
Schizophrenia | 22885689 | CNVD |
Schizophrenia | 20553308 | CNVD |
Schizophrenia | 20970697 | CNVD |
Schizophrenia | 20433910 | CNVD |
Schizophrenia | 22241247 | CNVD |
Autism | 19242545 | CNVD |
Primary central nervous system lymphoma | 21088137 | CNVD |
Intracranial ependymoma | 16609018 | CNVD |
Schizophrenia | 21399695 | CNVD |
Autism | 21956041 | CNVD |
Disorders of sex development | 21048976 | CNVD |
Autism | 22067053 | CNVD |
Autism | 18156158 | CNVD |
Mental retardation | 20152051 | CNVD |
Autism | 19218893 | CNVD |
Autism | 21289514 | CNVD |
Schizophrenia | 19855392 | CNVD |
neurodevelopmental Syndrome | 20503337 | CNVD |
Benign familial neonatal-infantile seizures | 21060786 | CNVD |
Low-grade fibromyxoid sarcoma | 0 | CNVD |
Cancer | 21183584 | CNVD |
Low-grade fibromyxoid sarcoma | 21536545 | CNVD |
Breast cancer | 21045282 | CNVD |
Neuroblastoma | 20406844 | CNVD |
Autism | 19050728 | CNVD |
Epilepsy | 20923578 | CNVD |
Psychiatric disorder | 19050728 | CNVD |
Schizophrenia | 19348701 | CNVD |
Attention deficit hyperactivity disorder | 19097825 | CNVD |
Autism | 20964600 | CNVD |
Schizophrenia | 19955444 | CNVD |
Schizophrenia | 18990708 | CNVD |
Schizophrenia | 19571808 | CNVD |
Breast cancer | 20409316 | CNVD |
Severe combined immunodeficiency | 19097825 | CNVD |
Esophageal squamous carcinoma | 18350619 | CNVD |
Autism | 18522746 | CNVD |
Sezary syndrome | 18413736 | CNVD |
Wilms tumour | 21544195 | CNVD |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
Cancer | 20164920 | CNVD |
Autism | 19287141 | CNVD |
Schizophrenia | 20967226 | CNVD |
Breast cancer | 17142309 | CNVD |
Cancer | 20164919 | CNVD |
Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
Non-syndromic sensorineural hearing loss | 22297974 | CNVD |
Lung cancer | 18438408 | CNVD |
Autism | 21865298 | CNVD |
Breast cancer | 21509527 | CNVD |
early-passage human iPS cells | 21368824 | CNVD |
Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
Breast cancer | 22522925 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
Melanoma | 20877625 | CNVD |
Breast cancer | 21364760 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr16:32876600-32876800 | Enhancers | Skeletal Muscle Female | skeletal muscle |
2 | chr16:32876800-32877000 | ZNF genes & repeats | H1 Derived Mesenchymal Stem Cells | ES cell derived |
3 | chr16:32876800-32877000 | Enhancers | Skeletal Muscle Male | skeletal muscle |
4 | chr16:32876800-32877200 | Flanking Active TSS | Skeletal Muscle Female | skeletal muscle |
5 | chr16:32876800-32881000 | Weak transcription | Breast Myoepithelial Primary Cells | Breast |
6 | chr16:32877000-32877400 | Flanking Active TSS | Skeletal Muscle Male | skeletal muscle |
7 | chr16:32877200-32877400 | Active TSS | Skeletal Muscle Female | skeletal muscle |
8 | chr16:32877400-32877600 | Flanking Active TSS | Skeletal Muscle Female | skeletal muscle |
9 | chr16:32877400-32877800 | Enhancers | Skeletal Muscle Male | skeletal muscle |
10 | chr16:32877600-32877800 | Active TSS | Skeletal Muscle Female | skeletal muscle |
11 | chr16:32877800-32878000 | Flanking Active TSS | Skeletal Muscle Female | skeletal muscle |
12 | chr16:32877800-32878200 | Flanking Active TSS | Skeletal Muscle Male | skeletal muscle |
13 | chr16:32878000-32878200 | Active TSS | Skeletal Muscle Female | skeletal muscle |
14 | chr16:32878200-32878600 | Flanking Active TSS | Skeletal Muscle Female | skeletal muscle |
15 | chr16:32878200-32880000 | Active TSS | Skeletal Muscle Male | skeletal muscle |
16 | chr16:32878600-32879400 | Active TSS | Skeletal Muscle Female | skeletal muscle |
17 | chr16:32879400-32879800 | Flanking Active TSS | Skeletal Muscle Female | skeletal muscle |
18 | chr16:32879800-32880200 | Enhancers | Left Ventricle | heart |
19 | chr16:32879800-32881000 | Enhancers | Skeletal Muscle Female | skeletal muscle |
20 | chr16:32880000-32880800 | Enhancers | Skeletal Muscle Male | skeletal muscle |
21 | chr16:32880800-32883800 | Weak transcription | Skeletal Muscle Male | skeletal muscle |
22 | chr16:32881000-32881800 | Enhancers | Breast Myoepithelial Primary Cells | Breast |
23 | chr16:32881000-32886000 | Weak transcription | Skeletal Muscle Female | skeletal muscle |
24 | chr16:32883800-32884200 | Enhancers | Skeletal Muscle Male | skeletal muscle |
25 | chr16:32884200-32885400 | Weak transcription | Skeletal Muscle Male | skeletal muscle |
26 | chr16:32885400-32887600 | Enhancers | Skeletal Muscle Male | skeletal muscle |
27 | chr16:32886000-32887400 | Enhancers | Skeletal Muscle Female | skeletal muscle |
28 | chr16:32890600-32891000 | Active TSS | HSMM | muscle |
29 | chr16:32957400-32957800 | ZNF genes & repeats | Foreskin Melanocyte Primary Cells skin01 | Skin |
30 | chr16:33006000-33007200 | Enhancers | Dnd41 | blood |
31 | chr16:33039600-33040000 | Bivalent Enhancer | Placenta | Placenta |
32 | chr16:33039600-33040800 | Active TSS | K562 | blood |
33 | chr16:33040000-33040400 | Flanking Bivalent TSS/Enh | Placenta | Placenta |
34 | chr16:33040400-33040800 | Bivalent Enhancer | Placenta | Placenta |
35 | chr16:33070400-33071000 | Bivalent Enhancer | Placenta | Placenta |
36 | chr16:33070600-33071000 | Active TSS | Psoas Muscle | Psoas |
37 | chr16:33070800-33071000 | Bivalent/Poised TSS | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
38 | chr16:33071400-33071600 | Enhancers | Right Ventricle | heart |
39 | chr16:33140000-33140400 | Active TSS | HSMM | muscle |
40 | chr16:33140200-33140400 | Enhancers | Primary hematopoietic stem cells short term culture | blood |
41 | chr16:33140200-33140400 | Enhancers | Brain Inferior Temporal Lobe | brain |
42 | chr16:33236400-33241000 | Weak transcription | iPS DF 6.9 Cell Line | embryonic stem cell |
43 | chr16:33236600-33241600 | Weak transcription | Fetal Lung | lung |
44 | chr16:33237400-33237600 | Bivalent Enhancer | Placenta | Placenta |
45 | chr16:33237400-33237600 | Enhancers | Right Ventricle | heart |
46 | chr16:33237400-33238000 | Active TSS | Primary T helper naive cells from peripheral blood | blood |
47 | chr16:33237400-33238000 | ZNF genes & repeats | Foreskin Melanocyte Primary Cells skin01 | Skin |
48 | chr16:33237400-33238200 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |
49 | chr16:33237400-33238200 | Active TSS | Primary T cells from cord blood | blood |
50 | chr16:33237400-33238200 | ZNF genes & repeats | Duodenum Smooth Muscle | Duodenum |