Variant report
Variant | nsv971304 |
---|---|
Chromosome Location | chr8:47695933-47777473 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:400)
- CpG islands (count:305)
- Chromatin interactive region (count:0)
- LncRNA region (count:87)
- 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 | BACH1 | chr8:47770297-47770313 | H1-hESC | embryonic stem cell: | n/a | n/a |
2 | BACH1 | chr8:47750627-47750683 | H1-hESC | embryonic stem cell: | n/a | n/a |
3 | BATF | chr8:47741055-47741204 | GM12878 | blood: | n/a | n/a |
4 | BATF | chr8:47742552-47742702 | GM12878 | blood: | n/a | n/a |
5 | BATF | chr8:47742058-47742352 | GM12878 | blood: | n/a | n/a |
6 | BATF | chr8:47742543-47742780 | GM12878 | blood: | n/a | n/a |
7 | BATF | chr8:47738438-47738681 | GM12878 | blood: | n/a | chr8:47738534-47738545 |
8 | BATF | chr8:47742166-47742315 | GM12878 | blood: | n/a | n/a |
9 | BCL11A | chr8:47742011-47742327 | GM12878 | blood: | n/a | n/a |
10 | BCL11A | chr8:47742173-47742308 | GM12878 | blood: | n/a | n/a |
11 | BCL11A | chr8:47742493-47742715 | GM12878 | blood: | n/a | n/a |
12 | BCL11A | chr8:47741045-47741214 | GM12878 | blood: | n/a | n/a |
13 | BCL11A | chr8:47741063-47741196 | GM12878 | blood: | n/a | n/a |
14 | BCL11A | chr8:47742558-47742696 | GM12878 | blood: | n/a | n/a |
15 | BHLHE40 | chr8:47741998-47742438 | HepG2 | liver: | n/a | n/a |
16 | BHLHE40 | chr8:47742538-47742866 | HepG2 | liver: | n/a | n/a |
17 | BHLHE40 | chr8:47741043-47741216 | HepG2 | liver: | n/a | n/a |
18 | CEBPB | chr8:47760294-47760574 | HepG2 | liver: | n/a | chr8:47760422-47760435 chr8:47760424-47760433 chr8:47760423-47760434 chr8:47760424-47760433 chr8:47760424-47760433 chr8:47760424-47760433 chr8:47760422-47760435 chr8:47760422-47760433 chr8:47760422-47760435 chr8:47760422-47760433 |
19 | CEBPB | chr8:47733759-47733964 | A549 | lung: | n/a | n/a |
20 | CEBPB | chr8:47750868-47751216 | HepG2 | liver: | n/a | chr8:47751033-47751044 |
21 | CEBPB | chr8:47726150-47726880 | HepG2 | liver: | n/a | n/a |
22 | CEBPB | chr8:47729582-47729782 | IMR90 | lung: | n/a | chr8:47729734-47729745 |
23 | CEBPB | chr8:47754786-47755004 | H1-hESC | embryonic stem cell: | n/a | n/a |
24 | CEBPB | chr8:47766294-47766573 | K562 | blood: | n/a | chr8:47766390-47766401 |
25 | CEBPB | chr8:47770756-47771098 | HepG2 | liver: | n/a | chr8:47770927-47770938 |
26 | CEBPB | chr8:47767015-47767397 | IMR90 | lung: | n/a | chr8:47767152-47767163 |
27 | CEBPB | chr8:47771800-47772967 | A549 | lung: | n/a | chr8:47771968-47771977 chr8:47771966-47771979 chr8:47771966-47771977 chr8:47771968-47771977 chr8:47771966-47771977 chr8:47771968-47771977 chr8:47771967-47771978 chr8:47771966-47771979 chr8:47771966-47771979 chr8:47771968-47771977 |
28 | CEBPB | chr8:47772797-47772971 | HepG2 | liver: | n/a | n/a |
29 | CEBPB | chr8:47731371-47731837 | HepG2 | liver: | n/a | n/a |
30 | CEBPB | chr8:47750894-47751193 | IMR90 | lung: | n/a | chr8:47751033-47751044 |
31 | CEBPB | chr8:47726143-47726477 | MCF-7 | breast: | n/a | n/a |
32 | CEBPB | chr8:47730627-47730869 | A549 | lung: | n/a | n/a |
33 | CEBPB | chr8:47773608-47774441 | A549 | lung: | n/a | n/a |
34 | CEBPB | chr8:47771804-47772479 | IMR90 | lung: | n/a | chr8:47771968-47771977 chr8:47771966-47771979 chr8:47771966-47771977 chr8:47771968-47771977 chr8:47771966-47771977 chr8:47771968-47771977 chr8:47771967-47771978 chr8:47771966-47771979 chr8:47771966-47771979 chr8:47771968-47771977 |
35 | CEBPB | chr8:47760261-47760601 | IMR90 | lung: | n/a | chr8:47760422-47760435 chr8:47760424-47760433 chr8:47760423-47760434 chr8:47760424-47760433 chr8:47760424-47760433 chr8:47760424-47760433 chr8:47760422-47760435 chr8:47760422-47760433 chr8:47760422-47760435 chr8:47760422-47760433 |
36 | CEBPB | chr8:47753754-47755047 | HepG2 | liver: | n/a | n/a |
37 | CEBPB | chr8:47754666-47755099 | MCF-7 | breast: | n/a | n/a |
38 | CEBPB | chr8:47775705-47775883 | A549 | lung: | n/a | n/a |
39 | CEBPB | chr8:47771800-47772449 | HepG2 | liver: | n/a | chr8:47771968-47771977 chr8:47771966-47771979 chr8:47771966-47771977 chr8:47771968-47771977 chr8:47771966-47771977 chr8:47771968-47771977 chr8:47771967-47771978 chr8:47771966-47771979 chr8:47771966-47771979 chr8:47771968-47771977 |
40 | CEBPB | chr8:47766223-47766564 | HepG2 | liver: | n/a | chr8:47766390-47766401 |
41 | CEBPB | chr8:47752270-47752699 | IMR90 | lung: | n/a | n/a |
42 | CEBPB | chr8:47755769-47755984 | A549 | lung: | n/a | n/a |
43 | CEBPB | chr8:47726092-47726550 | MCF-7 | breast: | n/a | n/a |
44 | CEBPB | chr8:47773617-47773955 | IMR90 | lung: | n/a | n/a |
45 | CEBPB | chr8:47750993-47751208 | A549 | lung: | n/a | chr8:47751033-47751044 |
46 | CEBPB | chr8:47767862-47768307 | A549 | lung: | n/a | n/a |
47 | CEBPB | chr8:47752236-47752796 | HepG2 | liver: | n/a | n/a |
48 | CEBPB | chr8:47732078-47732422 | A549 | lung: | n/a | chr8:47732251-47732262 |
49 | CEBPB | chr8:47730645-47730867 | HepG2 | liver: | n/a | n/a |
50 | CEBPB | chr8:47760272-47760591 | A549 | lung: | n/a | chr8:47760422-47760435 chr8:47760424-47760433 chr8:47760423-47760434 chr8:47760424-47760433 chr8:47760424-47760433 chr8:47760424-47760433 chr8:47760422-47760435 chr8:47760422-47760433 chr8:47760422-47760435 chr8:47760422-47760433 |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr8:47751953-47752003 | Caco-2 | colon: | n/a |
2 | chr8:47751953-47752003 | PrEC | prostate: | n/a |
3 | chr8:47751494-47751544 | AG04450 | lung: | fetal |
4 | chr8:47751623-47751673 | Jurkat | blood: | n/a |
5 | chr8:47751953-47752003 | U87 | brain: | n/a |
6 | chr8:47751953-47752003 | HUVEC | blood vessel: | n/a |
7 | chr8:47751494-47751544 | Hepatocyte | liver: | n/a |
8 | chr8:47751494-47751544 | HepG2 | liver: | n/a |
9 | chr8:47751953-47752003 | Hepatocyte | liver: | n/a |
10 | chr8:47761906-47761956 | HepG2 | liver: | n/a |
11 | chr8:47751953-47752003 | GM12892 | blood: | n/a |
12 | chr8:47751494-47751544 | GM19239 | blood: | n/a |
13 | chr8:47751494-47751544 | Hela-S3 | cervix: | n/a |
14 | chr8:47751953-47752003 | AG04450 | lung: | fetal |
15 | chr8:47751494-47751544 | A549 | lung: | n/a |
16 | chr8:47751623-47751673 | HRCEpiC | kidney: | n/a |
17 | chr8:47751623-47751673 | HCM | heart: | n/a |
18 | chr8:47751623-47751673 | RPTEC | kidney: | n/a |
19 | chr8:47748435-47748485 | ECC-1 | luminal epithelium: | n/a |
20 | chr8:47748435-47748485 | SKMC | muscle: | n/a |
21 | chr8:47751494-47751544 | HCT-116 | colon: | n/a |
22 | chr8:47751953-47752003 | HPAEpiC | pulmonary alveolar: | n/a |
23 | chr8:47751623-47751673 | MCF-7 | breast: | n/a |
24 | chr8:47751494-47751544 | IMR90 | lung: | fetal |
25 | chr8:47751623-47751673 | AG09309 | skin: | n/a |
26 | chr8:47748435-47748485 | MCF10A-Er-Src | breast: | n/a |
27 | chr8:47751953-47752003 | PANC-1 | pancreas: | n/a |
28 | chr8:47748435-47748485 | NB4 | blood: | n/a |
29 | chr8:47751494-47751544 | HL-60 | blood: | n/a |
30 | chr8:47751494-47751544 | AG09319 | gingival: | n/a |
31 | chr8:47751953-47752003 | SK-N-MC | brain: | n/a |
32 | chr8:47761906-47761956 | A549 | lung: | n/a |
33 | chr8:47751494-47751544 | HIPEpiC | eye: | n/a |
34 | chr8:47751623-47751673 | HUVEC | blood vessel: | n/a |
35 | chr8:47751494-47751544 | GM12878 | blood: | n/a |
36 | chr8:47751953-47752003 | AG04449 | skin: | fetal |
37 | chr8:47748435-47748485 | H1-hESC | embryonic stem cell: | embryo |
38 | chr8:47751623-47751673 | PrEC | prostate: | n/a |
39 | chr8:47751953-47752003 | NHBE | bronchial: | n/a |
40 | chr8:47761906-47761956 | HCF | heart: | n/a |
41 | chr8:47751953-47752003 | NHDF-neo | bronchial: | n/a |
42 | chr8:47761906-47761956 | SKMC | muscle: | n/a |
43 | chr8:47751494-47751544 | HCF | heart: | n/a |
44 | chr8:47751953-47752003 | HRPEpiC | eye: | n/a |
45 | chr8:47751623-47751673 | BE2_C | brain: | n/a |
46 | chr8:47761906-47761956 | RPTEC | kidney: | n/a |
47 | chr8:47751953-47752003 | GM06990 | blood: | n/a |
48 | chr8:47751494-47751544 | U87 | brain: | n/a |
49 | chr8:47751494-47751544 | HEEpiC | esophagus: | n/a |
50 | chr8:47751953-47752003 | AG09319 | gingival: | n/a |
No data |
No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-RP11-1134I14.8.1-3 | chr8:47760406-47761815 | NONHSAT126419 |
2 | lnc-RP11-1134I14.8.1-3 | chr8:47760406-47761152 | ENSG00000253314.1 |
3 | lnc-RP11-1134I14.8.1-3 | chr8:47759598-47759631 | ENSG00000253314.1 |
4 | lnc-RP11-1134I14.8.1-3 | chr8:47762290-47762365 | ENSG00000253314.1 |
5 | lnc-RP11-1134I14.8.1-3 | chr8:47765729-47765833 | ENSG00000253314.1 |
6 | lnc-RP11-1134I14.8.1-3 | chr8:47754972-47755048 | NONHSAT126421 |
7 | lnc-RP11-1134I14.8.1-3 | chr8:47752667-47752748 | ENSG00000253314.1 |
8 | lnc-RP11-1134I14.8.1-3 | chr8:47754972-47755048 | ENSG00000253314.1 |
9 | lnc-RP11-1134I14.8.1-3 | chr8:47753899-47753974 | NONHSAT126421 |
10 | lnc-LINC00293-2 | chr8:47704231-47704686 | NONHSAT126410 |
11 | lnc-RP11-1134I14.8.1-3 | chr8:47754972-47755048 | NONHSAT126420 |
12 | lnc-RP11-1134I14.8.1-3 | chr8:47752517-47752557 | ENSG00000253314.1 |
13 | lnc-RP11-1134I14.8.1-3 | chr8:47762290-47762365 | NONHSAT126421 |
14 | lnc-RP11-1134I14.8.1-3 | chr8:47757651-47757703 | NR_027013 |
15 | lnc-RP11-350F16.2.1-2 | chr8:47722340-47723308 | XLOC_007078 |
16 | lnc-RP11-1134I14.8.1-3 | chr8:47759598-47759722 | NONHSAT126415 |
17 | lnc-RP11-1134I14.8.1-3 | chr8:47757651-47757703 | NONHSAT126420 |
18 | lnc-RP11-1134I14.8.1-3 | chr8:47754972-47755048 | ENSG00000253314.1 |
19 | lnc-RP11-1134I14.8.1-3 | chr8:47753899-47753974 | ENSG00000253314.1 |
20 | lnc-RP11-1134I14.8.1-3 | chr8:47752497-47752557 | ENSG00000253314.1 |
21 | lnc-RP11-350F16.2.1-2 | chr8:47730635-47730705 | XLOC_007078 |
22 | lnc-RP11-1134I14.8.1-8 | chr8:47750410-47750827 | NONHSAT126417 |
23 | lnc-RP11-1134I14.8.1-3 | chr8:47759598-47759722 | NONHSAT126420 |
24 | lnc-RP11-1134I14.8.1-3 | chr8:47765729-47765991 | NONHSAT126420 |
25 | lnc-RP11-1134I14.8.1-3 | chr8:47762290-47762365 | NONHSAT126420 |
26 | lnc-RP11-1134I14.8.1-3 | chr8:47753899-47753974 | ENSG00000253314.1 |
27 | lnc-RP11-1134I14.8.1-3 | chr8:47752667-47752748 | NONHSAT126415 |
28 | lnc-RP11-1134I14.8.1-3 | chr8:47760406-47761152 | NONHSAT126420 |
29 | lnc-RP11-1134I14.8.1-3 | chr8:47748371-47748420 | NONHSAT126415 |
30 | lnc-RP11-1134I14.8.1-3 | chr8:47759598-47759688 | ENSG00000253314.1 |
31 | lnc-RP11-1134I14.8.1-3 | chr8:47765729-47765991 | NONHSAT126424 |
32 | lnc-RP11-1134I14.8.1-3 | chr8:47762228-47762365 | NONHSAT126424 |
33 | lnc-RP11-1134I14.8.1-3 | chr8:47765729-47765929 | NR_027013 |
34 | lnc-RP11-1134I14.8.1-3 | chr8:47760406-47760523 | NONHSAT126415 |
35 | lnc-RP11-1134I14.8.1-3 | chr8:47752438-47752557 | ENSG00000253314.1 |
36 | lnc-RP11-1134I14.8.1-3 | chr8:47752667-47752748 | ENSG00000253314.1 |
37 | lnc-RP11-1134I14.8.1-3 | chr8:47761071-47761815 | NONHSAT126415 |
38 | lnc-RP11-1134I14.8.1-3 | chr8:47752667-47752748 | ENSG00000253314.1 |
39 | lnc-LINC00293-2 | chr8:47703687-47703942 | NONHSAT126410 |
40 | lnc-RP11-1134I14.8.1-3 | chr8:47762290-47762365 | NONHSAT126423 |
41 | lnc-RP11-1134I14.8.1-3 | chr8:47760896-47761152 | NONHSAT126423 |
42 | lnc-RP11-1134I14.8.1-3 | chr8:47752667-47752748 | NR_027013 |
43 | lnc-RP11-1134I14.8.1-3 | chr8:47766386-47766763 | NONHSAT126424 |
44 | lnc-RP11-1134I14.8.1-3 | chr8:47752667-47752748 | ENSG00000253314.1 |
45 | lnc-RP11-1134I14.8.1-3 | chr8:47755811-47755918 | ENSG00000253314.1 |
46 | lnc-RP11-1134I14.8.1-3 | chr8:47752508-47752557 | NR_027013 |
47 | lnc-RP11-1134I14.8.1-3 | chr8:47757651-47757703 | ENSG00000253314.1 |
48 | lnc-RP11-1134I14.8.1-3 | chr8:47748364-47748420 | ENSG00000253314.1 |
49 | lnc-RP11-1134I14.8.1-3 | chr8:47761071-47761152 | NONHSAT126421 |
50 | lnc-RP11-1134I14.8.1-3 | chr8:47752508-47752557 | NONHSAT126421 |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000228984 | TF binding region |
MTND6P20 | TF binding region |
TRIM60P15 | TF binding region |
LINC00293 | TF binding region |
RNU6-656P | TF binding region |
ENSG00000254118 | TF binding region |
MTND1P7 | TF binding region |
ENSG00000228984 | CpG island |
MTND6P20 | CpG island |
TRIM60P15 | CpG island |
LINC00293 | CpG island |
RNU6-656P | CpG island |
ENSG00000254118 | CpG island |
MTND1P7 | CpG island |
USO1 | miRNA target sites |
PPARGC1A | miRNA target sites |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs115312133 | chr8:47695971-47695972 | ZNF genes & repeats Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
2 | rs558265669 | chr8:47695976-47695977 | ZNF genes & repeats Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
3 | rs562015034 | chr8:47695993-47695994 | ZNF genes & repeats Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
4 | rs527998851 | chr8:47696015-47696016 | ZNF genes & repeats | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
5 | rs544168302 | chr8:47696024-47696025 | ZNF genes & repeats | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
6 | rs188594709 | chr8:47696039-47696040 | ZNF genes & repeats | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
7 | rs543614052 | chr8:47696053-47696054 | ZNF genes & repeats | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
8 | rs114056064 | chr8:47696054-47696055 | ZNF genes & repeats | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
9 | rs181386833 | chr8:47696076-47696077 | ZNF genes & repeats | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
10 | rs138797028 | chr8:47696079-47696080 | ZNF genes & repeats | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
11 | rs559874569 | chr8:47696084-47696085 | ZNF genes & repeats | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
12 | rs185281320 | chr8:47696102-47696103 | ZNF genes & repeats | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
13 | rs199967525 | chr8:47696140-47696141 | ZNF genes & repeats | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
14 | rs545573652 | chr8:47696144-47696145 | ZNF genes & repeats | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
15 | rs564250993 | chr8:47696164-47696165 | ZNF genes & repeats | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
16 | rs560970266 | chr8:47696216-47696217 | ZNF genes & repeats | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
17 | rs531357221 | chr8:47696302-47696303 | ZNF genes & repeats | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
18 | rs550008240 | chr8:47696406-47696407 | ZNF genes & repeats | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
19 | rs141476780 | chr8:47696408-47696409 | ZNF genes & repeats | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
20 | rs561928864 | chr8:47696420-47696421 | ZNF genes & repeats | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
21 | rs374588223 | chr8:47696447-47696448 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
22 | rs375073729 | chr8:47696455-47696456 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
23 | rs547741954 | chr8:47696463-47696464 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
24 | rs117703186 | chr8:47696500-47696501 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
25 | rs539869812 | chr8:47696538-47696539 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
26 | rs551537724 | chr8:47696543-47696544 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
27 | rs188097163 | chr8:47696549-47696550 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
28 | rs180892528 | chr8:47696561-47696562 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
29 | rs555565620 | chr8:47696579-47696580 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
30 | rs77421985 | chr8:47696671-47696672 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
31 | rs560727140 | chr8:47696760-47696761 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
32 | rs547794379 | chr8:47696766-47696767 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
33 | rs187242183 | chr8:47696774-47696775 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
34 | rs149354125 | chr8:47696781-47696782 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
35 | rs563983085 | chr8:47696824-47696825 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
36 | rs576218704 | chr8:47696878-47696879 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
37 | rs192034446 | chr8:47696917-47696918 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
38 | rs181708724 | chr8:47696961-47696962 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
39 | rs567761615 | chr8:47696970-47696971 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
40 | rs144710303 | chr8:47696983-47696984 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
41 | rs72503991 | chr8:47696984-47696985 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
42 | rs111670987 | chr8:47696991-47696992 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
43 | rs559602961 | chr8:47697003-47697004 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
44 | rs533134811 | chr8:47697014-47697015 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
45 | rs551768783 | chr8:47697016-47697017 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
46 | rs185991668 | chr8:47697020-47697021 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
47 | rs533553370 | chr8:47697030-47697031 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
48 | rs537128749 | chr8:47697032-47697033 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
49 | rs190061039 | chr8:47697052-47697053 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
50 | rs567514313 | chr8:47697058-47697059 | 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 |
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 | 20729466 | 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 |
Ewing''s sarcoma | 17952124 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Tetralogy of Fallot | 22912587 | CNVD |
Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
early-passage human iPS cells | 21368824 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr8:47695600-47696000 | Active TSS | Fetal Heart | heart |
2 | chr8:47695600-47696200 | ZNF genes & repeats | Adipose Nuclei | Adipose |
3 | chr8:47695800-47696800 | ZNF genes & repeats | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
4 | chr8:47696200-47697400 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
5 | chr8:47696600-47697400 | ZNF genes & repeats | iPS-20b Cell Line | embryonic stem cell |
6 | chr8:47698400-47699200 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
7 | chr8:47698600-47699000 | Weak transcription | Fetal Heart | heart |
8 | chr8:47698800-47700800 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |
9 | chr8:47698800-47700800 | ZNF genes & repeats | Adipose Nuclei | Adipose |
10 | chr8:47699000-47699800 | Active TSS | Fetal Heart | heart |
11 | chr8:47699200-47701600 | ZNF genes & repeats | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
12 | chr8:47699400-47700400 | ZNF genes & repeats | Lung | lung |
13 | chr8:47709000-47709400 | Active TSS | ES-I3 Cell Line | embryonic stem cell |
14 | chr8:47709000-47709400 | ZNF genes & repeats | HUES6 Cell Line | embryonic stem cell |
15 | chr8:47733800-47736400 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |
16 | chr8:47751400-47752000 | ZNF genes & repeats | iPS-18 Cell Line | embryonic stem cell |
17 | chr8:47751400-47753800 | Enhancers | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
18 | chr8:47753200-47753800 | ZNF genes & repeats | iPS-20b Cell Line | embryonic stem cell |
19 | chr8:47754000-47755000 | Enhancers | Placenta | Placenta |
20 | chr8:47755000-47757000 | Weak transcription | Placenta | Placenta |
21 | chr8:47757000-47758200 | Enhancers | Placenta | Placenta |
22 | chr8:47758200-47759400 | Weak transcription | Placenta | Placenta |
23 | chr8:47759200-47761400 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |
24 | chr8:47760000-47760400 | Active TSS | Fetal Heart | heart |
25 | chr8:47761400-47762000 | Weak transcription | Placenta | Placenta |
26 | chr8:47762000-47763400 | Enhancers | Placenta | Placenta |
27 | chr8:47763400-47767400 | Weak transcription | Placenta | Placenta |
28 | chr8:47764200-47764400 | Bivalent Enhancer | HUES6 Cell Line | embryonic stem cell |
29 | chr8:47765200-47765400 | Flanking Bivalent TSS/Enh | HUES6 Cell Line | embryonic stem cell |
30 | chr8:47767400-47767800 | Enhancers | Placenta | Placenta |