Variant report
Variant | nsv827914 |
---|---|
Chromosome Location | chr17:18278173-18424843 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:1133)
- CpG islands (count:1894)
- Chromatin interactive region (count:10)
- LncRNA region (count:43)
- 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 | chr17:18283094-18283294 | K562 | blood: | n/a | n/a |
2 | ATF2 | chr17:18314118-18314356 | H1-hESC | embryonic stem cell: | n/a | n/a |
3 | BACH1 | chr17:18362390-18362672 | H1-hESC | embryonic stem cell: | n/a | n/a |
4 | BACH1 | chr17:18355389-18355575 | H1-hESC | embryonic stem cell: | n/a | n/a |
5 | BATF | chr17:18396335-18396562 | GM12878 | blood: | n/a | chr17:18396479-18396490 |
6 | BATF | chr17:18301531-18301764 | GM12878 | blood: | n/a | n/a |
7 | BATF | chr17:18379787-18380078 | GM12878 | blood: | n/a | n/a |
8 | BATF | chr17:18379801-18380128 | GM12878 | blood: | n/a | n/a |
9 | BATF | chr17:18410950-18411370 | GM12878 | blood: | n/a | chr17:18411156-18411166 chr17:18411155-18411166 |
10 | BATF | chr17:18306836-18307314 | GM12878 | blood: | n/a | n/a |
11 | BATF | chr17:18396259-18396664 | GM12878 | blood: | n/a | chr17:18396479-18396490 |
12 | BATF | chr17:18306799-18307466 | GM12878 | blood: | n/a | n/a |
13 | BATF | chr17:18411051-18411300 | GM12878 | blood: | n/a | chr17:18411156-18411166 chr17:18411155-18411166 |
14 | BCL11A | chr17:18379825-18380074 | GM12878 | blood: | n/a | n/a |
15 | BCL11A | chr17:18379766-18380162 | GM12878 | blood: | n/a | n/a |
16 | BCL11A | chr17:18378052-18378384 | GM12878 | blood: | n/a | n/a |
17 | BCL11A | chr17:18424410-18424651 | GM12878 | blood: | n/a | n/a |
18 | BCL11A | chr17:18306873-18307246 | GM12878 | blood: | n/a | n/a |
19 | BCL11A | chr17:18306911-18307191 | GM12878 | blood: | n/a | n/a |
20 | BCL3 | chr17:18314773-18315245 | A549 | lung: | n/a | n/a |
21 | BHLHE40 | chr17:18280957-18281131 | GM12878 | blood: | n/a | n/a |
22 | BHLHE40 | chr17:18282904-18283115 | K562 | blood: | n/a | n/a |
23 | BHLHE40 | chr17:18424672-18424862 | GM12878 | blood: | n/a | n/a |
24 | BHLHE40 | chr17:18396537-18396565 | K562 | blood: | n/a | n/a |
25 | BHLHE40 | chr17:18284936-18285074 | K562 | blood: | n/a | n/a |
26 | BRCA1 | chr17:18281434-18281557 | Hela-S3 | cervix: | n/a | n/a |
27 | BRCA1 | chr17:18280767-18281046 | Hela-S3 | cervix: | n/a | n/a |
28 | CEBPB | chr17:18280773-18281113 | HepG2 | liver: | n/a | chr17:18280955-18280966 |
29 | CEBPB | chr17:18280887-18280990 | K562 | blood: | n/a | chr17:18280955-18280966 |
30 | CEBPB | chr17:18318052-18318134 | A549 | lung: | n/a | chr17:18318100-18318113 chr17:18318102-18318113 chr17:18318102-18318111 |
31 | CEBPB | chr17:18362210-18362602 | Hela-S3 | cervix: | n/a | chr17:18362363-18362376 |
32 | CEBPB | chr17:18322048-18322324 | K562 | blood: | n/a | n/a |
33 | CEBPB | chr17:18280844-18281067 | HepG2 | liver: | n/a | chr17:18280955-18280966 |
34 | CEBPB | chr17:18362356-18362662 | IMR90 | lung: | n/a | chr17:18362363-18362376 |
35 | CEBPB | chr17:18322037-18322380 | K562 | blood: | n/a | n/a |
36 | CEBPB | chr17:18280691-18281529 | Hela-S3 | cervix: | n/a | chr17:18280955-18280966 |
37 | CEBPB | chr17:18280775-18281332 | HepG2 | liver: | n/a | chr17:18280955-18280966 |
38 | CEBPB | chr17:18280669-18281257 | MCF-7 | breast: | n/a | chr17:18280955-18280966 |
39 | CEBPB | chr17:18280845-18281055 | IMR90 | lung: | n/a | chr17:18280955-18280966 |
40 | CEBPB | chr17:18322055-18322251 | K562 | blood: | n/a | n/a |
41 | CEBPB | chr17:18317946-18318165 | IMR90 | lung: | n/a | chr17:18318100-18318113 chr17:18318102-18318113 chr17:18318102-18318111 |
42 | CEBPB | chr17:18280654-18281216 | MCF-7 | breast: | n/a | chr17:18280955-18280966 |
43 | CEBPB | chr17:18282090-18282251 | IMR90 | lung: | n/a | n/a |
44 | CEBPD | chr17:18280821-18281038 | HepG2 | liver: | n/a | chr17:18280954-18280965 |
45 | CHD1 | chr17:18315013-18315207 | H1-hESC | embryonic stem cell: | n/a | n/a |
46 | CHD2 | chr17:18281147-18281265 | HepG2 | liver: | n/a | n/a |
47 | CHD2 | chr17:18280716-18281520 | Hela-S3 | cervix: | n/a | n/a |
48 | CHD2 | chr17:18314139-18314423 | H1-hESC | embryonic stem cell: | n/a | n/a |
49 | CHD2 | chr17:18285011-18285049 | H1-hESC | embryonic stem cell: | n/a | n/a |
50 | CTCF | chr17:18400494-18400671 | LNCaP | prostate: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr17:18286644-18286694 | HRPEpiC | eye: | n/a |
2 | chr17:18285810-18285860 | MCF-7 | breast: | n/a |
3 | chr17:18317909-18317959 | H1-hESC | embryonic stem cell: | embryo |
4 | chr17:18286644-18286694 | HRPEpiC | eye: | n/a |
5 | chr17:18285810-18285860 | MCF-7 | breast: | n/a |
6 | chr17:18317909-18317959 | H1-hESC | embryonic stem cell: | embryo |
7 | chr17:18380159-18380209 | BJ | skin: | n/a |
8 | chr17:18286412-18286462 | SK-N-MC | brain: | n/a |
9 | chr17:18317909-18317959 | LNCaP | prostate: | n/a |
10 | chr17:18295431-18295481 | PrEC | prostate: | n/a |
11 | chr17:18397849-18397899 | SK-N-MC | brain: | n/a |
12 | chr17:18325001-18325051 | Hela-S3 | cervix: | n/a |
13 | chr17:18283678-18283728 | HMEC | breast: | n/a |
14 | chr17:18295503-18295553 | HRCEpiC | kidney: | n/a |
15 | chr17:18287814-18287864 | NH-A | brain: | n/a |
16 | chr17:18313048-18313098 | HCT-116 | colon: | n/a |
17 | chr17:18324790-18324840 | GM06990 | blood: | n/a |
18 | chr17:18283586-18283636 | MCF10A-Er-Src | breast: | n/a |
19 | chr17:18295431-18295481 | AG10803 | skin: | n/a |
20 | chr17:18281021-18281071 | AG10803 | skin: | n/a |
21 | chr17:18283586-18283636 | SAEC | small airway: | n/a |
22 | chr17:18280011-18280061 | NT2-D1 | testis: | n/a |
23 | chr17:18302510-18302560 | BJ | skin: | n/a |
24 | chr17:18421335-18421385 | AoSMC | blood vessel: | n/a |
25 | chr17:18286412-18286462 | A549 | lung: | n/a |
26 | chr17:18305305-18305355 | AG09319 | gingival: | n/a |
27 | chr17:18313048-18313098 | HepG2 | liver: | n/a |
28 | chr17:18287814-18287864 | RPTEC | kidney: | n/a |
29 | chr17:18280849-18280899 | HAEpiC | amniotic membrane: | n/a |
30 | chr17:18280849-18280899 | RPTEC | kidney: | n/a |
31 | chr17:18280183-18280233 | T-47D | breast: | n/a |
32 | chr17:18317909-18317959 | SKMC | muscle: | n/a |
33 | chr17:18283586-18283636 | PrEC | prostate: | n/a |
34 | chr17:18281021-18281071 | T-47D | breast: | n/a |
35 | chr17:18313048-18313098 | K562 | blood: | n/a |
36 | chr17:18290668-18290718 | AG09319 | gingival: | n/a |
37 | chr17:18379129-18379179 | GM12878 | blood: | n/a |
38 | chr17:18280849-18280899 | HPAEpiC | pulmonary alveolar: | n/a |
39 | chr17:18317909-18317959 | PFSK-1 | brain: | n/a |
40 | chr17:18285838-18285888 | RPTEC | kidney: | n/a |
41 | chr17:18379129-18379179 | GM12891 | blood: | n/a |
42 | chr17:18302510-18302560 | Caco-2 | colon: | n/a |
43 | chr17:18421335-18421385 | Hela-S3 | cervix: | n/a |
44 | chr17:18326064-18326114 | GM12891 | blood: | n/a |
45 | chr17:18421335-18421385 | HCF | heart: | n/a |
46 | chr17:18283678-18283728 | GM12891 | blood: | n/a |
47 | chr17:18280011-18280061 | HL-60 | blood: | n/a |
48 | chr17:18286644-18286694 | HCM | heart: | n/a |
49 | chr17:18295431-18295481 | HIPEpiC | eye: | n/a |
50 | chr17:18285810-18285860 | SK-N-MC | brain: | n/a |
(count:10 , 50 per page) page:
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr17:18218839..18221214-chr17:18276166..18278374,2 | MCF-7 | breast: | |
2 | chr17:18271239..18274758-chr17:18277396..18280809,3 | MCF-7 | breast: | |
3 | chr17:18278481..18280376-chr17:18284493..18286607,2 | K562 | blood: | |
4 | chr13:111365369..111366036-chr17:18280882..18281427,2 | Hela-S3 | cervix: | |
5 | chr17:18278481..18280376-chr17:18284493..18286607,2 | K562 | blood: | |
6 | chr17:18266722..18268365-chr17:18275980..18278903,2 | MCF-7 | breast: | |
7 | chr17:18289123..18291183-chr17:20462480..20465308,2 | MCF-7 | breast: | |
8 | chr17:18271062..18274039-chr17:18283398..18285584,2 | MCF-7 | breast: | |
9 | chr17:18273227..18274953-chr17:18289917..18291736,2 | K562 | blood: | |
10 | chr17:18160932..18162896-chr17:18279447..18281125,2 | MCF-7 | breast: |
(count:43 , 50 per page) page:
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-AL353997.5.1-5 | chr17:18380114-18380207 | NONHSAT146376 |
2 | lnc-FAM106A-2 | chr17:18420604-18420787 | NONHSAT146381 |
3 | lnc-FAM106A-2 | chr17:18422796-18422988 | ENSG00000273018.1 |
4 | lnc-FAM106A-2 | chr17:18422796-18422988 | ENSG00000273018.1 |
5 | lnc-FAM106A-2 | chr17:18422796-18422988 | ENSG00000273018.1 |
6 | lnc-AL353997.5.1-2 | chr17:18315660-18315823 | XLOC_012131 |
7 | lnc-FAM106A-2 | chr17:18420696-18420787 | ENSG00000273018.1 |
8 | lnc-FAM106A-2 | chr17:18420696-18420787 | ENSG00000273018.1 |
9 | lnc-AL353997.5.1-1 | chr17:18328108-18328411 | ENSG00000205266.5 |
10 | lnc-FAM106A-2 | chr17:18420696-18420787 | ENSG00000273018.1 |
11 | lnc-AL353997.5.1-5 | chr17:18387189-18387649 | NONHSAT146376 |
12 | lnc-FAM106A-2 | chr17:18422796-18422988 | ENSG00000273018.1 |
13 | lnc-AL353997.1-1 | chr17:18291533-18291602 | NONHSAT146194 |
14 | lnc-AL353997.1-1 | chr17:18289718-18289778 | NONHSAT146194 |
15 | lnc-AL353997.5.1-2 | chr17:18317464-18317702 | XLOC_012131 |
16 | lnc-AL353997.5.1-4 | chr17:18343220-18343625 | NONHSAT146373 |
17 | lnc-AL353997.5.1-6 | chr17:18395939-18396053 | NONHSAT146378 |
18 | lnc-AL353997.5.1-2 | chr17:18315660-18315807 | XLOC_012131 |
19 | lnc-FAM106A-2 | chr17:18420604-18420787 | ENSG00000273018.1 |
20 | lnc-FAM106A-2 | chr17:18420696-18420787 | ENSG00000273018.1 |
21 | lnc-FAM106A-2 | chr17:18422796-18422988 | ENSG00000273018.1 |
22 | lnc-FAM106A-2 | chr17:18422796-18422988 | ENSG00000273018.1 |
23 | lnc-AL353997.5.1-2 | chr17:18317468-18317702 | XLOC_012131 |
24 | lnc-AL353997.5.1-6 | chr17:18395483-18395859 | NONHSAT146378 |
25 | lnc-FAM106A-2 | chr17:18422796-18422988 | ENSG00000273018.1 |
26 | lnc-AL353997.5.1-2 | chr17:18317464-18317623 | XLOC_012131 |
27 | lnc-AL353997.1-1 | chr17:18292171-18292691 | NONHSAT146194 |
28 | lnc-AL353997.5.1-1 | chr17:18327635-18327951 | ENSG00000205266.5 |
29 | lnc-AL353997.5.1-2 | chr17:18315789-18316112 | XLOC_012131 |
30 | lnc-FAM106A-2 | chr17:18420725-18420787 | ENSG00000273018.1 |
31 | lnc-FAM106A-2 | chr17:18424393-18424459 | ENSG00000273018.1 |
32 | lnc-FAM106A-2 | chr17:18422796-18422988 | ENSG00000273018.1 |
33 | lnc-FAM106A-2 | chr17:18420633-18420787 | NONHSAT146382 |
34 | lnc-FAM106A-2 | chr17:18422796-18422988 | ENSG00000273018.1 |
35 | lnc-FAM106A-2 | chr17:18422958-18422988 | ENSG00000273018.1 |
36 | lnc-FAM106A-2 | chr17:18422796-18422988 | NONHSAT146382 |
37 | lnc-FAM106A-2 | chr17:18420696-18420787 | ENSG00000273018.1 |
38 | lnc-AL353997.5.1-4 | chr17:18343740-18343831 | NONHSAT146373 |
39 | lnc-FAM106A-2 | chr17:18420696-18420787 | ENSG00000273018.1 |
40 | lnc-FAM106A-2 | chr17:18422796-18422988 | NONHSAT146381 |
41 | lnc-FAM106A-2 | chr17:18420696-18420787 | ENSG00000273018.1 |
42 | lnc-FAM106A-2 | chr17:18422796-18422988 | ENSG00000273018.1 |
43 | lnc-AL353997.5.1-4 | chr17:18344268-18344334 | NONHSAT146373 |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000205266 | TF binding region |
USP32P2 | TF binding region |
ENSG00000267492 | TF binding region |
KRT16P1 | TF binding region |
ENSG00000267441 | TF binding region |
YWHAEP2 | TF binding region |
EVPLL | TF binding region |
KRT17P2 | TF binding region |
NOS2P2 | TF binding region |
TBC1D3P4 | TF binding region |
ENSG00000264177 | TF binding region |
KRT16P4 | TF binding region |
LGALS9C | TF binding region |
ENSG00000227919 | TF binding region |
TNPO1P2 | TF binding region |
ENSG00000240279 | TF binding region |
ENSG00000220161 | TF binding region |
ENSG00000205266 | CpG island |
USP32P2 | CpG island |
ENSG00000267492 | CpG island |
KRT16P1 | CpG island |
ENSG00000267441 | CpG island |
YWHAEP2 | CpG island |
EVPLL | CpG island |
KRT17P2 | CpG island |
NOS2P2 | CpG island |
TBC1D3P4 | CpG island |
ENSG00000264177 | CpG island |
KRT16P4 | CpG island |
LGALS9C | CpG island |
ENSG00000227919 | CpG island |
TNPO1P2 | CpG island |
ENSG00000240279 | CpG island |
ENSG00000220161 | CpG island |
ENSG00000134905 | chromatin interactions |
ENSG00000153487 | chromatin interactions |
ENSG00000263946 | chromatin interactions |
ENSG00000176974 | chromatin interactions |
ENSG00000177731 | chromatin interactions |
KIAA0664 | miRNA target sites |
KIAA0528 | miRNA target sites |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs139617920 | chr17:18278174-18278175 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
2 | rs145246283 | chr17:18278226-18278227 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
3 | rs147632730 | chr17:18278243-18278244 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
4 | rs567250151 | chr17:18278315-18278316 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
5 | rs62074171 | chr17:18278327-18278328 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
6 | rs71355563 | chr17:18278328-18278329 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
7 | rs556019589 | chr17:18278329-18278330 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
8 | rs79402056 | chr17:18278330-18278331 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
9 | rs78916820 | chr17:18278331-18278332 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
10 | rs11455021 | chr17:18278346-18278347 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
11 | rs186974370 | chr17:18278372-18278373 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
12 | rs373265377 | chr17:18278378-18278379 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
13 | rs191420668 | chr17:18278390-18278391 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
14 | rs569128579 | chr17:18278416-18278417 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
15 | rs538101239 | chr17:18278440-18278441 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
16 | rs558038003 | chr17:18278480-18278481 | Weak transcription | TF binding regionChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
17 | rs577957714 | chr17:18278505-18278506 | Weak transcription | TF binding regionChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
18 | rs8080951 | chr17:18278517-18278518 | Weak transcription | TF binding regionChromatin interactive region | 2 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
19 | rs117724508 | chr17:18278521-18278522 | Weak transcription | TF binding regionChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
20 | rs574035276 | chr17:18278556-18278557 | Weak transcription | TF binding regionChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
21 | rs140586016 | chr17:18278573-18278574 | Weak transcription | TF binding regionChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
22 | rs551466130 | chr17:18278596-18278597 | Weak transcription | TF binding regionChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
23 | rs183549865 | chr17:18278598-18278599 | Weak transcription | TF binding regionChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
24 | rs576309146 | chr17:18278609-18278610 | Weak transcription | TF binding regionChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
25 | rs545284181 | chr17:18278620-18278621 | Weak transcription | TF binding regionChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
26 | rs565170071 | chr17:18278629-18278630 | Weak transcription | TF binding regionChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
27 | rs569448787 | chr17:18278630-18278631 | Weak transcription | TF binding regionChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
28 | rs144552144 | chr17:18278656-18278657 | Weak transcription | TF binding regionChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
29 | rs8082494 | chr17:18278684-18278685 | Weak transcription | TF binding regionChromatin interactive region | 2 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
30 | rs560951415 | chr17:18278728-18278729 | Weak transcription | TF binding regionChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
31 | rs187840803 | chr17:18278747-18278748 | Weak transcription | TF binding regionChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
32 | rs193218178 | chr17:18278761-18278762 | Weak transcription | TF binding regionChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
33 | rs71890195 | chr17:18278801-18278802 | Weak transcription ZNF genes & repeats | TF binding regionChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
34 | rs569067405 | chr17:18278830-18278831 | Weak transcription ZNF genes & repeats | TF binding regionChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
35 | rs540863848 | chr17:18278844-18278845 | Weak transcription ZNF genes & repeats | TF binding regionChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
36 | rs538037729 | chr17:18278856-18278857 | Weak transcription ZNF genes & repeats | TF binding regionChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
37 | rs145455561 | chr17:18278878-18278879 | Weak transcription ZNF genes & repeats | TF binding regionChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
38 | rs77500019 | chr17:18278917-18278918 | Weak transcription ZNF genes & repeats | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
39 | rs185204748 | chr17:18278930-18278931 | Weak transcription ZNF genes & repeats | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
40 | rs539265340 | chr17:18278980-18278981 | Weak transcription ZNF genes & repeats | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
41 | rs201986031 | chr17:18278987-18278988 | Weak transcription ZNF genes & repeats | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
42 | rs534542882 | chr17:18279021-18279022 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
43 | rs553846815 | chr17:18279031-18279032 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
44 | rs574001205 | chr17:18279036-18279037 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
45 | rs570703236 | chr17:18279061-18279062 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
46 | rs536302876 | chr17:18279100-18279101 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs148836488 | chr17:18279131-18279132 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs471346 | chr17:18279140-18279141 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs597690 | chr17:18279161-18279162 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs190045879 | chr17:18279220-18279221 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Chronic lymphocytic leukemia | 21546498 | CNVD |
Burkitt''s lymphoma | 19759907 | CNVD |
Wilms tumour | 21544195 | CNVD |
Esophageal adenocarcinoma | 18519675 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Acute lymphoblastic leukemia | 21390130 | CNVD |
Melanoma | 18172304 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Breast cancer | 16608533 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Chordoma | 21602918 | CNVD |
Miller-Dieker syndrome | 22283845 | CNVD |
Non-syndromic sensorineural hearing loss | 17457615 | CNVD |
Cancer | 22429812 | CNVD |
Chronic lymphocytic leukemia | 21795749 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Follicular lymphoma | 19010834 | CNVD |
Colorectal cancer | 20709793 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Paraganglioma | 21461997 | CNVD |
Pheochromocytoma | 21461997 | CNVD |
Breast cancer | 22028636 | CNVD |
Breast cancer | 20837533 | CNVD |
Astrocytoma | 17387387 | CNVD |
Breast cancer | 21264507 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Medulloblastoma | 21292688 | CNVD |
colon cancer | 17210682 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Basal cell lymphoma | 17053054 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Cancer | 16751803 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Embryonal rhabdomyosarcoma | 16790082 | CNVD |
Chronic lymphocytic leukemia | 17971485 | CNVD |
Basal cell lymphoma | 17170743 | CNVD |
Breast cancer | 16461572 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Follicular lymphoma | 17170743 | CNVD |
Human rectal carcinomas | 16397240 | CNVD |
Oral squamous cell carcinoma | 17134496 | CNVD |
Breast cancer | 17133270 | CNVD |
Chronic lymphocytic leukemia | 18922857 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Ovarian cancer | 22174824 | CNVD |
Moyamoya disease | 22323933 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Acute promyelocytic leukemia | 19109227 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
Myelodysplastic syndrome | 21251322 | CNVD |
Cancer | 20164919 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Acute myeloid leukemia | 20724749 | CNVD |
Non-syndromic sensorineural hearing loss | 21030649 | CNVD |
Acute myeloid leukemia | 17237825 | CNVD |
Colorectal cancer | 21645411 | CNVD |
HIV/AIDS | 22844521 | CNVD |
Psoriasis | 22844521 | CNVD |
Rheumatoid arthritis | 22844521 | CNVD |
Sclerosis systemic | 22844521 | CNVD |
Systemic lupus erythematosus | 22844521 | CNVD |
HIV/AIDS | 17953491 | CNVD |
HIV/AIDS | 20877625 | CNVD |
Immune disease | 21076436 | CNVD |
Rheumatoid arthritis | 17953491 | CNVD |
Type 1 diabetes | 17953491 | CNVD |
HIV/AIDS | 15637236 | CNVD |
Prostate cancer | 18632612 | CNVD |
Lung cancer | 18438408 | CNVD |
Ovarian cancer | 21781307 | 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 |
Neurofibromatosis | 18196300 | CNVD |
Adenoid cystic carcinoma | 18332873 | CNVD |
Colorectal cancer | 16774939 | CNVD |
Breast cancer | 17001317 | CNVD |
Rhabdomyosarcoma | 16790082 | CNVD |
Charcot-marie-tooth disease | 16463004 | CNVD |
Osteosarcoma | 22292074 | CNVD |
Breast cancer | 17603634 | CNVD |
Charcot | 16760730 | CNVD |
Mental retardation | 17901693 | CNVD |
Malignant fibrous histiocytomas | 21085701 | CNVD |
ovarian endometriomas | 16273235 | CNVD |
Ovarian cancer | 21720365 | CNVD |
Acute lymphoblastic leukemia | 21339820 | CNVD |
Smith-Magenis syndrome | 18923513 | CNVD |
Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Breast cancer | 16272173 | CNVD |
Austim spectrum disorder | 21302340 | CNVD |
Autism | 22492990 | CNVD |
Congenital abnormalities | 21549014 | CNVD |
Developmental delay | 18414209 | CNVD |
Developmental delay | 21549014 | CNVD |
Epilepsy | 20970697 | CNVD |
Mental retardation | 18414209 | CNVD |
Mental retardation | 21549014 | CNVD |
Smith-Magenis syndrome | 21981782 | CNVD |
Smith-Magenis syndrome | 20188345 | CNVD |
Smith-Magenis syndrome | 16775514 | CNVD |
Smith-Magenis syndrome | 22585170 | CNVD |
Smith-Magenis syndrome | 22241247 | CNVD |
Autism | 20970697 | CNVD |
Mental retardation | 19951919 | CNVD |
Potocki-Lupski syndrome | 21271655 | CNVD |
Potocki-lupski syndrome | 17357070 | CNVD |
Potocki-lupski syndrome | 20110824 | CNVD |
Potocki-lupski syndrome | 18923514 | CNVD |
Potocki-lupski syndrome | 22241247 | CNVD |
Potocki-lupski syndrome | 20188345 | CNVD |
Schizophrenia | 21399695 | CNVD |
Mental retardation | 16773131 | CNVD |
Adenocarcinoma | 19607727 | CNVD |
Squamous cell cancer | 19607727 | CNVD |
Non-small cell lung cancer | 21829676 | CNVD |
Glioblastoma multiforme | 17002787 | CNVD |
Charcot-marie-tooth disease | 22470819 | CNVD |
Neurofibromatosis | 22470819 | CNVD |
Neuropathy | 22470819 | CNVD |
Smith-Magenis syndrome | 18301319 | CNVD |
Smith-Magenis syndrome | 17357070 | CNVD |
Smith-Magenis syndrome | 18469339 | CNVD |
Smith-Magenis syndrome | 22241097 | CNVD |
Smith-Magenis syndrome | 22470819 | CNVD |
Tourette syndrome | 18923514 | CNVD |
Type 1 diabetes | 22470819 | CNVD |
Potocki-lupski syndrome | 18469339 | CNVD |
Follicular lymphoma | 20505157 | CNVD |
T-cell lymphomas | 19863542 | CNVD |
Neuropathy | 17597781 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Neurodevelopmental disorder | 17015230 | CNVD |
Smith-Magenis syndrome | 17597781 | CNVD |
Potocki-lupski syndrome | 18059269 | CNVD |
Potocki-lupski syndrome | 17597781 | CNVD |
Mental retardation | 17847001 | CNVD |
Multiple myeloma | 16616336 | CNVD |
Breast cancer | 20409316 | CNVD |
Non-syndromic sensorineural hearing loss | 18496225 | CNVD |
Autism | 22543975 | CNVD |
Ovarian cancer | 22355333 | CNVD |
Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
Sezary syndrome | 18413736 | CNVD |
Medulloblastoma | 16783165 | CNVD |
Recurrent pregnancy loss | 19789632 | CNVD |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
early-passage human iPS cells | 21368824 | CNVD |
Breast cancer | 21509527 | CNVD |
Breast cancer | 22522925 | CNVD |
Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
Tetralogy of Fallot | 22912587 | CNVD |
Ovarian clear cell carcinoma | 21343371 | CNVD |
Autism | 21865298 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Non-syndromic sensorineural hearing loss | 19212409 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr17:18267200-18288200 | Weak transcription | Right Atrium | heart |
2 | chr17:18275000-18280200 | Weak transcription | NHEK | skin |
3 | chr17:18277800-18280600 | Weak transcription | Hela-S3 | cervix |
4 | chr17:18277800-18281000 | Weak transcription | A549 | lung |
5 | chr17:18278400-18278800 | Weak transcription | Thymus | Thymus |
6 | chr17:18278800-18279000 | ZNF genes & repeats | Thymus | Thymus |
7 | chr17:18279000-18280600 | Weak transcription | Thymus | Thymus |
8 | chr17:18279800-18280600 | Enhancers | Monocytes-CD14+_RO01746 | blood |
9 | chr17:18279800-18281400 | Enhancers | Primary hematopoietic stem cells short term culture | blood |
10 | chr17:18279800-18281400 | Enhancers | Spleen | Spleen |
11 | chr17:18279800-18281800 | Enhancers | Primary monocytes fromperipheralblood | blood |
12 | chr17:18280200-18281000 | Enhancers | NHEK | skin |
13 | chr17:18280400-18280600 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
14 | chr17:18280400-18280600 | Enhancers | HepG2 | liver |
15 | chr17:18280400-18281600 | Enhancers | Primary neutrophils fromperipheralblood | blood |
16 | chr17:18280400-18281600 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Female | -- |
17 | chr17:18280400-18284200 | Enhancers | Stomach Mucosa | stomach |
18 | chr17:18280600-18280800 | Enhancers | Foreskin Keratinocyte Primary Cells skin03 | Skin |
19 | chr17:18280600-18280800 | Flanking Active TSS | Hela-S3 | cervix |
20 | chr17:18280600-18281000 | Flanking Active TSS | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
21 | chr17:18280600-18281200 | Enhancers | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
22 | chr17:18280600-18281200 | Enhancers | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
23 | chr17:18280600-18281200 | Flanking Active TSS | HepG2 | liver |
24 | chr17:18280600-18281400 | Bivalent Enhancer | Primary T cells fromperipheralblood | blood |
25 | chr17:18280600-18281400 | Enhancers | Fetal Intestine Small | intestine |
26 | chr17:18280600-18281400 | Enhancers | Fetal Thymus | thymus |
27 | chr17:18280600-18281400 | Enhancers | Gastric | stomach |
28 | chr17:18280600-18281400 | Enhancers | Rectal Mucosa Donor 29 | rectum |
29 | chr17:18280600-18281400 | Enhancers | Rectal Mucosa Donor 31 | rectum |
30 | chr17:18280600-18281400 | Enhancers | Thymus | Thymus |
31 | chr17:18280600-18281400 | Enhancers | GM12878-XiMat | blood |
32 | chr17:18280600-18281400 | Flanking Active TSS | Monocytes-CD14+_RO01746 | blood |
33 | chr17:18280600-18281600 | Enhancers | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
34 | chr17:18280600-18281600 | Enhancers | Primary B cells from cord blood | blood |
35 | chr17:18280600-18281600 | Enhancers | Primary hematopoietic stem cells | blood |
36 | chr17:18280600-18281600 | Enhancers | Primary Natural Killer cells fromperipheralblood | blood |
37 | chr17:18280600-18281600 | Enhancers | Colonic Mucosa | Colon |
38 | chr17:18280600-18281600 | Enhancers | Fetal Stomach | stomach |
39 | chr17:18280600-18281600 | Enhancers | HMEC | breast |
40 | chr17:18280600-18281800 | Enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |
41 | chr17:18280600-18281800 | Enhancers | Breast Myoepithelial Primary Cells | Breast |
42 | chr17:18280600-18281800 | Enhancers | Primary B cells from peripheral blood | blood |
43 | chr17:18280600-18281800 | Flanking Active TSS | Foreskin Keratinocyte Primary Cells skin02 | Skin |
44 | chr17:18280600-18281800 | Enhancers | Liver | Liver |
45 | chr17:18280600-18282000 | Enhancers | Adipose Nuclei | Adipose |
46 | chr17:18280600-18282000 | Enhancers | Duodenum Mucosa | Duodenum |
47 | chr17:18280600-18283200 | Enhancers | Placenta Amnion | Placenta Amnion |
48 | chr17:18280600-18283800 | Enhancers | Placenta | Placenta |
49 | chr17:18280800-18281000 | Active TSS | Hela-S3 | cervix |
50 | chr17:18280800-18281200 | Enhancers | Primary T helper 17 cells PMA-I stimulated | -- |