Variant report
Variant | nsv1057226 |
---|---|
Chromosome Location | chr17:18283687-18510146 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:1466)
- CpG islands (count:2198)
- Chromatin interactive region (count:5)
- LncRNA region (count:91)
- 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 | chr17:18467518-18467720 | HepG2 | liver: | n/a | n/a |
2 | ATF2 | chr17:18314118-18314356 | H1-hESC | embryonic stem cell: | n/a | n/a |
3 | BACH1 | chr17:18355389-18355575 | H1-hESC | embryonic stem cell: | n/a | n/a |
4 | BACH1 | chr17:18362390-18362672 | H1-hESC | embryonic stem cell: | n/a | n/a |
5 | BACH1 | chr17:18472043-18472169 | H1-hESC | embryonic stem cell: | n/a | n/a |
6 | BATF | chr17:18396335-18396562 | GM12878 | blood: | n/a | chr17:18396479-18396490 |
7 | BATF | chr17:18379787-18380078 | GM12878 | blood: | n/a | n/a |
8 | BATF | chr17:18503769-18504272 | GM12878 | blood: | n/a | n/a |
9 | BATF | chr17:18509282-18509509 | GM12878 | blood: | n/a | n/a |
10 | BATF | chr17:18483425-18483804 | GM12878 | blood: | n/a | n/a |
11 | BATF | chr17:18410950-18411370 | GM12878 | blood: | n/a | chr17:18411156-18411166 chr17:18411155-18411166 |
12 | BATF | chr17:18306836-18307314 | GM12878 | blood: | n/a | n/a |
13 | BATF | chr17:18496542-18496830 | GM12878 | blood: | n/a | n/a |
14 | BATF | chr17:18306799-18307466 | GM12878 | blood: | n/a | n/a |
15 | BATF | chr17:18396259-18396664 | GM12878 | blood: | n/a | chr17:18396479-18396490 |
16 | BATF | chr17:18411051-18411300 | GM12878 | blood: | n/a | chr17:18411156-18411166 chr17:18411155-18411166 |
17 | BATF | chr17:18483436-18483734 | GM12878 | blood: | n/a | n/a |
18 | BATF | chr17:18379801-18380128 | GM12878 | blood: | n/a | n/a |
19 | BATF | chr17:18509195-18509490 | GM12878 | blood: | n/a | n/a |
20 | BATF | chr17:18467472-18467685 | GM12878 | blood: | n/a | n/a |
21 | BATF | chr17:18301531-18301764 | GM12878 | blood: | n/a | n/a |
22 | BCL11A | chr17:18472933-18473174 | H1-hESC | embryonic stem cell: | n/a | n/a |
23 | BCL11A | chr17:18483453-18483768 | GM12878 | blood: | n/a | n/a |
24 | BCL11A | chr17:18306873-18307246 | GM12878 | blood: | n/a | n/a |
25 | BCL11A | chr17:18424410-18424651 | GM12878 | blood: | n/a | n/a |
26 | BCL11A | chr17:18379766-18380162 | GM12878 | blood: | n/a | n/a |
27 | BCL11A | chr17:18472981-18473247 | H1-hESC | embryonic stem cell: | n/a | n/a |
28 | BCL11A | chr17:18306911-18307191 | GM12878 | blood: | n/a | n/a |
29 | BCL11A | chr17:18509267-18509452 | GM12878 | blood: | n/a | n/a |
30 | BCL11A | chr17:18503757-18504030 | GM12878 | blood: | n/a | n/a |
31 | BCL11A | chr17:18378052-18378384 | GM12878 | blood: | n/a | n/a |
32 | BCL11A | chr17:18379825-18380074 | GM12878 | blood: | n/a | n/a |
33 | BCL11A | chr17:18509177-18509596 | GM12878 | blood: | n/a | n/a |
34 | BCL3 | chr17:18314773-18315245 | A549 | lung: | n/a | n/a |
35 | BHLHE40 | chr17:18284936-18285074 | K562 | blood: | n/a | n/a |
36 | BHLHE40 | chr17:18466647-18467016 | K562 | blood: | n/a | n/a |
37 | BHLHE40 | chr17:18396537-18396565 | K562 | blood: | n/a | n/a |
38 | BHLHE40 | chr17:18424672-18424862 | GM12878 | blood: | n/a | n/a |
39 | CEBPB | chr17:18362210-18362602 | Hela-S3 | cervix: | n/a | chr17:18362363-18362376 |
40 | CEBPB | chr17:18467442-18467753 | Hela-S3 | cervix: | n/a | n/a |
41 | CEBPB | chr17:18508639-18509020 | K562 | blood: | n/a | n/a |
42 | CEBPB | chr17:18318052-18318134 | A549 | lung: | n/a | chr17:18318100-18318113 chr17:18318102-18318113 chr17:18318102-18318111 |
43 | CEBPB | chr17:18362356-18362662 | IMR90 | lung: | n/a | chr17:18362363-18362376 |
44 | CEBPB | chr17:18317946-18318165 | IMR90 | lung: | n/a | chr17:18318100-18318113 chr17:18318102-18318113 chr17:18318102-18318111 |
45 | CEBPB | chr17:18509221-18509565 | K562 | blood: | n/a | n/a |
46 | CEBPB | chr17:18467515-18467676 | HepG2 | liver: | n/a | n/a |
47 | CEBPB | chr17:18484451-18484641 | A549 | lung: | n/a | n/a |
48 | CEBPB | chr17:18484454-18484578 | H1-hESC | embryonic stem cell: | n/a | n/a |
49 | CEBPB | chr17:18509247-18509490 | K562 | blood: | n/a | n/a |
50 | CEBPB | chr17:18322055-18322251 | K562 | blood: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr17:18431043-18431093 | HEK293 | kidney: | embryo |
2 | chr17:18285810-18285860 | GM12891 | blood: | n/a |
3 | chr17:18431043-18431093 | HEK293 | kidney: | embryo |
4 | chr17:18285810-18285860 | GM12891 | blood: | n/a |
5 | chr17:18397849-18397899 | T-47D | breast: | n/a |
6 | chr17:18380159-18380209 | T-47D | breast: | n/a |
7 | chr17:18432149-18432199 | PFSK-1 | brain: | n/a |
8 | chr17:18305305-18305355 | SAEC | small airway: | n/a |
9 | chr17:18324895-18324945 | K562 | blood: | n/a |
10 | chr17:18378879-18378929 | HAEpiC | amniotic membrane: | n/a |
11 | chr17:18291699-18291749 | AoSMC | blood vessel: | n/a |
12 | chr17:18285838-18285888 | GM12878 | blood: | n/a |
13 | chr17:18378879-18378929 | GM12891 | blood: | n/a |
14 | chr17:18379129-18379179 | ECC-1 | luminal epithelium: | n/a |
15 | chr17:18378879-18378929 | HCT-116 | colon: | n/a |
16 | chr17:18378879-18378929 | NHDF-neo | bronchial: | n/a |
17 | chr17:18286644-18286694 | NT2-D1 | testis: | n/a |
18 | chr17:18430908-18430958 | MCF-7 | breast: | n/a |
19 | chr17:18431043-18431093 | HMEC | breast: | n/a |
20 | chr17:18475978-18476028 | GM12891 | blood: | n/a |
21 | chr17:18421335-18421385 | AG04450 | lung: | fetal |
22 | chr17:18476310-18476360 | MCF-7 | breast: | n/a |
23 | chr17:18476310-18476360 | AG04450 | lung: | fetal |
24 | chr17:18291699-18291749 | T-47D | breast: | n/a |
25 | chr17:18421335-18421385 | HRPEpiC | eye: | n/a |
26 | chr17:18475978-18476028 | AG10803 | skin: | n/a |
27 | chr17:18428092-18428142 | ovcar-3 | ovarian: | n/a |
28 | chr17:18290668-18290718 | HL-60 | blood: | n/a |
29 | chr17:18431043-18431093 | GM19239 | blood: | n/a |
30 | chr17:18305305-18305355 | HRE | kidney: | n/a |
31 | chr17:18475978-18476028 | SK-N-SH | brain: | n/a |
32 | chr17:18286644-18286694 | IMR90 | lung: | fetal |
33 | chr17:18475978-18476028 | NH-A | brain: | n/a |
34 | chr17:18419896-18419946 | GM12878 | blood: | n/a |
35 | chr17:18476059-18476109 | GM12891 | blood: | n/a |
36 | chr17:18317909-18317959 | AG10803 | skin: | n/a |
37 | chr17:18419896-18419946 | ECC-1 | luminal epithelium: | n/a |
38 | chr17:18324895-18324945 | HCPEpiC | choroid plexus: | n/a |
39 | chr17:18283678-18283728 | CMK | blood: | n/a |
40 | chr17:18380159-18380209 | AG09319 | gingival: | n/a |
41 | chr17:18285838-18285888 | HRPEpiC | eye: | n/a |
42 | chr17:18287814-18287864 | Caco-2 | colon: | n/a |
43 | chr17:18380159-18380209 | HRE | kidney: | n/a |
44 | chr17:18313048-18313098 | HCF | heart: | n/a |
45 | chr17:18430908-18430958 | HCM | heart: | n/a |
46 | chr17:18432149-18432199 | NHDF-neo | bronchial: | n/a |
47 | chr17:18429951-18430001 | ovcar-3 | ovarian: | n/a |
48 | chr17:18313048-18313098 | BJ | skin: | n/a |
49 | chr17:18476059-18476109 | MCF10A-Er-Src | breast: | n/a |
50 | chr17:18380354-18380404 | NT2-D1 | testis: | n/a |
(count:5 , 50 per page) page:
1
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr17:18278481..18280376-chr17:18284493..18286607,2 | K562 | blood: | |
2 | chr17:18222850..18223360-chr17:18466465..18467335,2 | MCF-7 | breast: | |
3 | chr17:18289123..18291183-chr17:20462480..20465308,2 | MCF-7 | breast: | |
4 | chr17:18273227..18274953-chr17:18289917..18291736,2 | K562 | blood: | |
5 | chr17:18271062..18274039-chr17:18283398..18285584,2 | MCF-7 | breast: |
No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-FAM106A-2 | chr17:18436395-18436705 | NONHSAT146384 |
2 | lnc-FAM106A-2 | chr17:18444241-18444550 | ENSG00000273018.1 |
3 | lnc-FAM106A-2 | chr17:18420604-18420787 | NONHSAT146381 |
4 | lnc-FAM106A-2 | chr17:18422796-18422988 | NONHSAT146381 |
5 | lnc-AL353997.5.1-4 | chr17:18344268-18344334 | NONHSAT146373 |
6 | lnc-FAM106A-2 | chr17:18431887-18432126 | NONHSAT146381 |
7 | lnc-FAM106A-2 | chr17:18431887-18432061 | ENSG00000273018.1 |
8 | lnc-FAM106A-2 | chr17:18422796-18422988 | NONHSAT146382 |
9 | lnc-FAM106A-2 | chr17:18435820-18435911 | ENSG00000273018.1 |
10 | lnc-AL353997.5.1-6 | chr17:18395939-18396053 | NONHSAT146378 |
11 | lnc-FAM106A-2 | chr17:18422796-18422988 | ENSG00000273018.1 |
12 | lnc-AL353997.1-1 | chr17:18289718-18289778 | NONHSAT146194 |
13 | lnc-FAM106A-2 | chr17:18420696-18420787 | ENSG00000273018.1 |
14 | lnc-FAM106A-2 | chr17:18427091-18427191 | ENSG00000273018.1 |
15 | lnc-FAM106A-2 | chr17:18422796-18422988 | ENSG00000273018.1 |
16 | lnc-FAM106A-2 | chr17:18420725-18420787 | ENSG00000273018.1 |
17 | lnc-FAM106A-2 | chr17:18445402-18445501 | ENSG00000273018.1 |
18 | lnc-FAM106A-2 | chr17:18431900-18432061 | ENSG00000273018.1 |
19 | lnc-FAM106A-2 | chr17:18436661-18436852 | ENSG00000273018.1 |
20 | lnc-FAM106A-2 | chr17:18445402-18445501 | ENSG00000273018.1 |
21 | lnc-AL353997.5.1-1 | chr17:18327635-18327951 | ENSG00000205266.5 |
22 | lnc-TBC1D28-3 | chr17:18508369-18508669 | NONHSAT146389 |
23 | lnc-FAM106A-2 | chr17:18454820-18455019 | ENSG00000273018.1 |
24 | lnc-FAM106A-2 | chr17:18427091-18427191 | ENSG00000273018.1 |
25 | lnc-FAM106A-2 | chr17:18435820-18435911 | ENSG00000273018.1 |
26 | lnc-AL353997.5.1-2 | chr17:18315660-18315807 | XLOC_012131 |
27 | lnc-AL353997.5.1-2 | chr17:18317464-18317623 | XLOC_012131 |
28 | lnc-FAM106A-2 | chr17:18430884-18431074 | ENSG00000273018.1 |
29 | lnc-FAM106A-2 | chr17:18444241-18444277 | NONHSAT146384 |
30 | lnc-FAM106A-1 | chr17:18427880-18430160 | NR_026809 |
31 | lnc-FAM106A-2 | chr17:18426379-18426609 | NONHSAT146382 |
32 | lnc-FAM106A-2 | chr17:18422796-18422988 | ENSG00000273018.1 |
33 | lnc-FAM106A-2 | chr17:18435820-18435911 | ENSG00000273018.1 |
34 | lnc-AL353997.5.1-2 | chr17:18317464-18317702 | XLOC_012131 |
35 | lnc-FAM106A-2 | chr17:18454820-18455008 | ENSG00000273018.1 |
36 | lnc-FAM106A-2 | chr17:18446987-18447029 | ENSG00000273018.1 |
37 | lnc-FAM106A-2 | chr17:18427457-18427714 | ENSG00000273018.1 |
38 | lnc-FAM106A-2 | chr17:18422796-18422988 | ENSG00000273018.1 |
39 | lnc-FAM106A-2 | chr17:18445402-18445501 | ENSG00000273018.1 |
40 | lnc-AL353997.5.1-4 | chr17:18343220-18343625 | NONHSAT146373 |
41 | lnc-FAM106A-2 | chr17:18436661-18436705 | ENSG00000273018.1 |
42 | lnc-FAM106A-2 | chr17:18446987-18447029 | ENSG00000273018.1 |
43 | lnc-FAM106A-2 | chr17:18431887-18431914 | ENSG00000273018.1 |
44 | lnc-AL353997.5.1-2 | chr17:18315789-18316112 | XLOC_012131 |
45 | lnc-FAM106A-2 | chr17:18430884-18431074 | ENSG00000273018.1 |
46 | lnc-FAM106A-2 | chr17:18422796-18422988 | ENSG00000273018.1 |
47 | lnc-FAM106A-2 | chr17:18446987-18447029 | ENSG00000273018.1 |
48 | lnc-FAM106A-2 | chr17:18436661-18437376 | ENSG00000273018.1 |
49 | lnc-FAM106A-2 | chr17:18426965-18427191 | ENSG00000273018.1 |
50 | lnc-FAM106A-2 | chr17:18420696-18420787 | ENSG00000273018.1 |
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 |
SRP68P2 | 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 |
RN7SL639P | TF binding region |
TNPO1P2 | TF binding region |
ENSG00000240279 | TF binding region |
ENSG00000227077 | TF binding region |
FAM106A | TF binding region |
ENSG00000220161 | TF binding region |
CCDC144B | TF binding region |
ENSG00000273018 | 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 |
SRP68P2 | CpG island |
NOS2P2 | CpG island |
TBC1D3P4 | CpG island |
ENSG00000264177 | CpG island |
KRT16P4 | CpG island |
LGALS9C | CpG island |
ENSG00000227919 | CpG island |
RN7SL639P | CpG island |
TNPO1P2 | CpG island |
ENSG00000240279 | CpG island |
ENSG00000227077 | CpG island |
FAM106A | CpG island |
ENSG00000220161 | CpG island |
CCDC144B | CpG island |
ENSG00000273018 | CpG island |
ENSG00000263946 | 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 | rs61091801 | chr17:18283739-18283740 | Enhancers Bivalent Enhancer Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs150199232 | chr17:18283745-18283746 | Enhancers Bivalent Enhancer Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs200462868 | chr17:18283746-18283747 | Enhancers Bivalent Enhancer Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs386795969 | chr17:18283748-18283749 | Enhancers Bivalent Enhancer Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs56735648 | chr17:18283749-18283750 | Enhancers Bivalent Enhancer Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
6 | rs376987033 | chr17:18283755-18283756 | Enhancers Bivalent Enhancer Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs546836714 | chr17:18283760-18283761 | Enhancers Bivalent Enhancer Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs567056148 | chr17:18283804-18283805 | Enhancers Weak transcription Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
9 | rs535717971 | chr17:18283810-18283811 | Enhancers Weak transcription Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
10 | rs555653746 | chr17:18283811-18283812 | Enhancers Weak transcription Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
11 | rs575564128 | chr17:18283835-18283836 | Enhancers Weak transcription Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
12 | rs537848590 | chr17:18283892-18283893 | Enhancers Weak transcription Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
13 | rs139071669 | chr17:18283900-18283901 | Enhancers Weak transcription Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
14 | rs578005370 | chr17:18283906-18283907 | Enhancers Weak transcription Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
15 | rs540724833 | chr17:18283914-18283915 | Enhancers Weak transcription Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
16 | rs143097872 | chr17:18283989-18283990 | Enhancers Weak transcription Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
17 | rs573794906 | chr17:18283990-18283991 | Enhancers Weak transcription Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
18 | rs571232184 | chr17:18284027-18284028 | Weak transcription Enhancers Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
19 | rs562749087 | chr17:18284053-18284054 | Weak transcription Enhancers Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
20 | rs138775560 | chr17:18284121-18284122 | Weak transcription Enhancers Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
21 | rs551385806 | chr17:18284149-18284150 | Weak transcription Enhancers Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
22 | rs149300087 | chr17:18284157-18284158 | Weak transcription Enhancers Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
23 | rs527347766 | chr17:18284178-18284179 | Weak transcription Enhancers Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
24 | rs116637662 | chr17:18284184-18284185 | Weak transcription Enhancers Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
25 | rs370013393 | chr17:18284185-18284186 | Weak transcription Enhancers Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
26 | rs535634483 | chr17:18284196-18284197 | Weak transcription Enhancers Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
27 | rs567724594 | chr17:18284208-18284209 | Weak transcription Enhancers Bivalent Enhancer Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs370420011 | chr17:18284234-18284235 | Weak transcription Enhancers Bivalent Enhancer Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs386795970 | chr17:18284262-18284263 | Weak transcription Enhancers Bivalent Enhancer Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs116412205 | chr17:18284263-18284264 | Weak transcription Enhancers Bivalent Enhancer Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs538160538 | chr17:18284266-18284267 | Weak transcription Enhancers Bivalent Enhancer Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs557821753 | chr17:18284272-18284273 | Weak transcription Enhancers Bivalent Enhancer Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs199807942 | chr17:18284280-18284281 | Weak transcription Enhancers Bivalent Enhancer Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs577988098 | chr17:18284296-18284297 | Weak transcription Enhancers Bivalent Enhancer Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs189648449 | chr17:18284317-18284318 | Weak transcription Enhancers Bivalent Enhancer Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs144581987 | chr17:18284326-18284327 | Weak transcription Enhancers Bivalent Enhancer Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs574213593 | chr17:18284351-18284352 | Weak transcription Enhancers Bivalent Enhancer Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs542841181 | chr17:18284411-18284412 | Weak transcription Enhancers Bivalent Enhancer Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs562712110 | chr17:18284412-18284413 | Weak transcription Enhancers Bivalent Enhancer Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs576363119 | chr17:18284453-18284454 | Weak transcription Enhancers Bivalent Enhancer Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs148487221 | chr17:18284476-18284477 | Weak transcription Enhancers Bivalent Enhancer Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs180829251 | chr17:18284506-18284507 | Weak transcription Enhancers Bivalent Enhancer Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs7501705 | chr17:18284511-18284512 | Weak transcription Enhancers Bivalent Enhancer Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs530622383 | chr17:18284537-18284538 | Weak transcription Enhancers Bivalent Enhancer Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs527294156 | chr17:18284539-18284540 | Weak transcription Enhancers Bivalent Enhancer Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs547108851 | chr17:18284556-18284557 | Weak transcription Enhancers Bivalent Enhancer Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs187614461 | chr17:18284631-18284632 | Weak transcription Enhancers Bivalent/Poised TSS Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs375878972 | chr17:18284649-18284650 | Weak transcription Enhancers Bivalent/Poised TSS Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs529782002 | chr17:18284683-18284684 | Weak transcription Enhancers Bivalent/Poised TSS Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs549126432 | chr17:18284745-18284746 | Weak transcription Enhancers Bivalent/Poised TSS Strong 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 | chr17:18280400-18284200 | Enhancers | Stomach Mucosa | stomach |
3 | chr17:18280600-18283800 | Enhancers | Placenta | Placenta |
4 | chr17:18281400-18286400 | Weak transcription | Gastric | stomach |
5 | chr17:18281600-18283800 | Weak transcription | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
6 | chr17:18282600-18283800 | Enhancers | Esophagus | oesophagus |
7 | chr17:18283000-18283800 | Enhancers | Rectal Mucosa Donor 29 | rectum |
8 | chr17:18283000-18283800 | Bivalent Enhancer | NHEK | skin |
9 | chr17:18283000-18288200 | Enhancers | Fetal Thymus | thymus |
10 | chr17:18283200-18283800 | Enhancers | Foreskin Keratinocyte Primary Cells skin03 | Skin |
11 | chr17:18283400-18283800 | Enhancers | HUES6 Cell Line | embryonic stem cell |
12 | chr17:18283400-18287000 | Enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |
13 | chr17:18283600-18283800 | Bivalent Enhancer | Primary Natural Killer cells fromperipheralblood | blood |
14 | chr17:18283600-18284000 | Enhancers | ES-WA7 Cell Line | embryonic stem cell |
15 | chr17:18283600-18284000 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
16 | chr17:18283600-18284000 | Bivalent Enhancer | Primary monocytes fromperipheralblood | blood |
17 | chr17:18283600-18284000 | Bivalent Enhancer | Monocytes-CD14+_RO01746 | blood |
18 | chr17:18283800-18284000 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Female | -- |
19 | chr17:18283800-18284000 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
20 | chr17:18283800-18284000 | Bivalent Enhancer | Placenta | Placenta |
21 | chr17:18283800-18284200 | Weak transcription | Esophagus | oesophagus |
22 | chr17:18283800-18284800 | Weak transcription | Rectal Mucosa Donor 29 | rectum |
23 | chr17:18283800-18286200 | Weak transcription | HUES6 Cell Line | embryonic stem cell |
24 | chr17:18283800-18289400 | Weak transcription | Foreskin Keratinocyte Primary Cells skin03 | Skin |
25 | chr17:18284000-18284200 | Bivalent Enhancer | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
26 | chr17:18284000-18284200 | Bivalent Enhancer | Foreskin Melanocyte Primary Cells skin01 | Skin |
27 | chr17:18284000-18284600 | Bivalent Enhancer | Foreskin Fibroblast Primary Cells skin02 | Skin |
28 | chr17:18284000-18286200 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
29 | chr17:18284200-18286000 | Strong transcription | Esophagus | oesophagus |
30 | chr17:18284600-18285200 | Bivalent/Poised TSS | Foreskin Fibroblast Primary Cells skin02 | Skin |
31 | chr17:18285000-18285200 | Bivalent Enhancer | H1 Derived Mesenchymal Stem Cells | ES cell derived |
32 | chr17:18285000-18285200 | Bivalent Enhancer | Duodenum Mucosa | Duodenum |
33 | chr17:18285400-18286400 | Bivalent Enhancer | Foreskin Melanocyte Primary Cells skin01 | Skin |
34 | chr17:18285800-18286000 | Bivalent/Poised TSS | Foreskin Fibroblast Primary Cells skin02 | Skin |
35 | chr17:18285800-18287000 | Bivalent Enhancer | Primary T cells fromperipheralblood | blood |
36 | chr17:18286000-18286200 | Enhancers | Thymus | Thymus |
37 | chr17:18286000-18286400 | Bivalent Enhancer | Foreskin Fibroblast Primary Cells skin02 | Skin |
38 | chr17:18286000-18286600 | Enhancers | iPS DF 6.9 Cell Line | embryonic stem cell |
39 | chr17:18286000-18286600 | Enhancers | Primary T regulatory cells fromperipheralblood | blood |
40 | chr17:18286200-18286400 | Bivalent Enhancer | Breast Myoepithelial Primary Cells | Breast |
41 | chr17:18286200-18286400 | Bivalent Enhancer | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
42 | chr17:18286200-18286400 | Bivalent Enhancer | Foreskin Melanocyte Primary Cells skin03 | Skin |
43 | chr17:18286200-18286400 | Enhancers | Rectal Mucosa Donor 29 | rectum |
44 | chr17:18286200-18286400 | Bivalent Enhancer | Right Ventricle | heart |
45 | chr17:18286200-18286400 | Bivalent Enhancer | Skeletal Muscle Male | skeletal muscle |
46 | chr17:18286200-18286400 | Bivalent Enhancer | Spleen | Spleen |
47 | chr17:18286200-18286600 | Enhancers | HUES6 Cell Line | embryonic stem cell |
48 | chr17:18286200-18286600 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
49 | chr17:18286200-18286600 | Bivalent Enhancer | Primary B cells from peripheral blood | blood |
50 | chr17:18286200-18286600 | Active TSS | Primary T helper naive cells fromperipheralblood | blood |