Variant report
Variant | esv3527987 |
---|---|
Chromosome Location | chr11:71298409-71620955 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:4473)
- CpG islands (count:5742)
- Chromatin interactive region (count:12)
- LncRNA region (count:33)
- 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 | chr11:71423449-71423649 | K562 | blood: | n/a | n/a |
2 | ARID3A | chr11:71599388-71599657 | HepG2 | liver: | n/a | n/a |
3 | ARID3A | chr11:71499570-71499575 | HepG2 | liver: | n/a | n/a |
4 | ARID3A | chr11:71410234-71410262 | K562 | blood: | n/a | n/a |
5 | ARID3A | chr11:71417122-71417426 | K562 | blood: | n/a | n/a |
6 | ARID3A | chr11:71416385-71416810 | K562 | blood: | n/a | n/a |
7 | ARID3A | chr11:71454526-71454806 | K562 | blood: | n/a | n/a |
8 | ARID3A | chr11:71511545-71511692 | K562 | blood: | n/a | n/a |
9 | ARID3A | chr11:71475957-71476045 | K562 | blood: | n/a | n/a |
10 | ARID3A | chr11:71460269-71460401 | K562 | blood: | n/a | n/a |
11 | ARID3A | chr11:71423994-71424313 | K562 | blood: | n/a | n/a |
12 | ATF1 | chr11:71328834-71328851 | K562 | blood: | n/a | n/a |
13 | ATF1 | chr11:71430611-71430715 | K562 | blood: | n/a | n/a |
14 | ATF1 | chr11:71575242-71575395 | K562 | blood: | n/a | n/a |
15 | ATF1 | chr11:71417251-71417305 | K562 | blood: | n/a | n/a |
16 | ATF1 | chr11:71483232-71483430 | K562 | blood: | n/a | n/a |
17 | ATF1 | chr11:71454569-71454834 | K562 | blood: | n/a | n/a |
18 | ATF1 | chr11:71475791-71476199 | K562 | blood: | n/a | n/a |
19 | ATF1 | chr11:71511476-71511666 | K562 | blood: | n/a | n/a |
20 | ATF2 | chr11:71540829-71541073 | GM12878 | blood: | n/a | n/a |
21 | ATF3 | chr11:71416472-71416725 | K562 | blood: | n/a | n/a |
22 | ATF3 | chr11:71300244-71300497 | K562 | blood: | n/a | n/a |
23 | ATF3 | chr11:71390992-71391254 | K562 | blood: | n/a | n/a |
24 | ATF3 | chr11:71511455-71511719 | H1-hESC | embryonic stem cell: | n/a | n/a |
25 | ATF3 | chr11:71511454-71511674 | GM12878 | blood: | n/a | n/a |
26 | ATF3 | chr11:71575100-71575329 | K562 | blood: | n/a | n/a |
27 | ATF3 | chr11:71575077-71575386 | H1-hESC | embryonic stem cell: | n/a | n/a |
28 | BACH1 | chr11:71421452-71421711 | H1-hESC | embryonic stem cell: | n/a | n/a |
29 | BATF | chr11:71428825-71429020 | GM12878 | blood: | n/a | chr11:71428919-71428927 |
30 | BATF | chr11:71511440-71511763 | GM12878 | blood: | n/a | n/a |
31 | BATF | chr11:71421930-71422331 | GM12878 | blood: | n/a | n/a |
32 | BATF | chr11:71445516-71445843 | GM12878 | blood: | n/a | n/a |
33 | BATF | chr11:71300267-71300538 | GM12878 | blood: | n/a | n/a |
34 | BATF | chr11:71376144-71376697 | GM12878 | blood: | n/a | n/a |
35 | BATF | chr11:71527794-71528002 | GM12878 | blood: | n/a | chr11:71527879-71527890 |
36 | BATF | chr11:71575058-71575377 | GM12878 | blood: | n/a | n/a |
37 | BATF | chr11:71498902-71499183 | GM12878 | blood: | n/a | n/a |
38 | BATF | chr11:71496443-71496643 | GM12878 | blood: | n/a | n/a |
39 | BATF | chr11:71300267-71300512 | GM12878 | blood: | n/a | n/a |
40 | BATF | chr11:71425385-71425877 | GM12878 | blood: | n/a | n/a |
41 | BATF | chr11:71398779-71399009 | GM12878 | blood: | n/a | n/a |
42 | BATF | chr11:71499406-71499609 | GM12878 | blood: | n/a | n/a |
43 | BATF | chr11:71421266-71421667 | GM12878 | blood: | n/a | n/a |
44 | BATF | chr11:71532357-71532883 | GM12878 | blood: | n/a | n/a |
45 | BATF | chr11:71421908-71422351 | GM12878 | blood: | n/a | n/a |
46 | BATF | chr11:71407057-71407555 | GM12878 | blood: | n/a | n/a |
47 | BATF | chr11:71364018-71364247 | GM12878 | blood: | n/a | chr11:71364110-71364121 |
48 | BATF | chr11:71574985-71575313 | GM12878 | blood: | n/a | n/a |
49 | BATF | chr11:71376106-71376750 | GM12878 | blood: | n/a | n/a |
50 | BATF | chr11:71499485-71499773 | GM12878 | blood: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr11:71421279-71421329 | PFSK-1 | brain: | n/a |
2 | chr11:71322699-71322749 | Jurkat | blood: | n/a |
3 | chr11:71601069-71601119 | ECC-1 | luminal epithelium: | n/a |
4 | chr11:71313838-71313888 | SK-N-SH_RA | brain: | n/a |
5 | chr11:71350975-71351025 | GM12891 | blood: | n/a |
6 | chr11:71349753-71349803 | NH-A | brain: | n/a |
7 | chr11:71320766-71320816 | HL-60 | blood: | n/a |
8 | chr11:71301182-71301232 | HEK293 | kidney: | embryo |
9 | chr11:71421279-71421329 | PFSK-1 | brain: | n/a |
10 | chr11:71322699-71322749 | Jurkat | blood: | n/a |
11 | chr11:71601069-71601119 | ECC-1 | luminal epithelium: | n/a |
12 | chr11:71313838-71313888 | SK-N-SH_RA | brain: | n/a |
13 | chr11:71350975-71351025 | GM12891 | blood: | n/a |
14 | chr11:71349753-71349803 | NH-A | brain: | n/a |
15 | chr11:71320766-71320816 | HL-60 | blood: | n/a |
16 | chr11:71301182-71301232 | HEK293 | kidney: | embryo |
17 | chr11:71462582-71462632 | SK-N-MC | brain: | n/a |
18 | chr11:71346528-71346578 | HCPEpiC | choroid plexus: | n/a |
19 | chr11:71524852-71524902 | HEK293 | kidney: | embryo |
20 | chr11:71543471-71543521 | GM12892 | blood: | n/a |
21 | chr11:71340182-71340232 | Hela-S3 | cervix: | n/a |
22 | chr11:71318870-71318920 | GM06990 | blood: | n/a |
23 | chr11:71618618-71618668 | Hepatocyte | liver: | n/a |
24 | chr11:71326282-71326332 | GM19239 | blood: | n/a |
25 | chr11:71318057-71318107 | GM19239 | blood: | n/a |
26 | chr11:71418204-71418254 | H1-hESC | embryonic stem cell: | embryo |
27 | chr11:71352122-71352172 | GM06990 | blood: | n/a |
28 | chr11:71619703-71619753 | SKMC | muscle: | n/a |
29 | chr11:71319400-71319450 | SAEC | small airway: | n/a |
30 | chr11:71527895-71527945 | AG09309 | skin: | n/a |
31 | chr11:71346528-71346578 | GM19239 | blood: | n/a |
32 | chr11:71554504-71554554 | HEK293 | kidney: | embryo |
33 | chr11:71315863-71315913 | HCT-116 | colon: | n/a |
34 | chr11:71321132-71321182 | HCM | heart: | n/a |
35 | chr11:71351271-71351321 | SKMC | muscle: | n/a |
36 | chr11:71420947-71420997 | HEEpiC | esophagus: | n/a |
37 | chr11:71346528-71346578 | SKMC | muscle: | n/a |
38 | chr11:71324525-71324575 | HCF | heart: | n/a |
39 | chr11:71352122-71352172 | SKMC | muscle: | n/a |
40 | chr11:71618618-71618668 | HCT-116 | colon: | n/a |
41 | chr11:71313287-71313337 | H1-hESC | embryonic stem cell: | embryo |
42 | chr11:71497552-71497602 | HepG2 | liver: | n/a |
43 | chr11:71462582-71462632 | Caco-2 | colon: | n/a |
44 | chr11:71322165-71322215 | Hepatocyte | liver: | n/a |
45 | chr11:71618372-71618422 | Hela-S3 | cervix: | n/a |
46 | chr11:71318057-71318107 | PANC-1 | pancreas: | n/a |
47 | chr11:71543583-71543633 | CMK | blood: | n/a |
48 | chr11:71320617-71320667 | HEEpiC | esophagus: | n/a |
49 | chr11:71313287-71313337 | GM12878 | blood: | n/a |
50 | chr11:71619642-71619692 | LNCaP | prostate: | n/a |
(count:12 , 50 per page) page:
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr11:71489714..71493464-chr11:71497648..71499552,3 | MCF-7 | breast: | |
2 | chr11:71349980..71350709-chr11:71511135..71512071,2 | K562 | blood: | |
3 | chr11:71498340..71499087-chr19:18391666..18392636,2 | Hela-S3 | cervix: | |
4 | chr11:71502585..71504558-chr11:71523085..71525009,2 | MCF-7 | breast: | |
5 | chr11:71290639..71292875-chr11:71296370..71298788,2 | MCF-7 | breast: | |
6 | chr11:71498143..71498944-chr16:5147397..5148064,2 | Hela-S3 | cervix: | |
7 | chr11:71498107..71498639-chr3:75483883..75484386,2 | Hela-S3 | cervix: | |
8 | chr11:3442224..3443750-chr11:71497854..71499382,2 | MCF-7 | breast: | |
9 | chr11:67572484..67573077-chr11:71498421..71498985,2 | HCT-116 | colon: | |
10 | chr11:71499803..71501328-chr11:71502237..71504426,2 | K562 | blood: | |
11 | chr11:71499803..71501328-chr11:71502237..71504426,2 | K562 | blood: | |
12 | chr11:71349980..71350709-chr11:71511135..71512071,2 | K562 | blood: |
(count:33 , 50 per page) page:
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-AP000867.1-4 | chr11:71401499-71401703 | NONHSAT022697 |
2 | lnc-FAM86C1-2 | chr11:71395710-71396117 | expRegAs_chr11_7374_+ |
3 | lnc-AP000867.1-1 | chr11:71416406-71416450 | ENSG00000254972 |
4 | lnc-FAM86C1-3 | chr11:71394183-71394998 | expRegAs_chr11_7373_+ |
5 | lnc-DEFB108B-2 | chr11:71548070-71548218 | NONHSAT022717 |
6 | lnc-FAM86C1-4 | chr11:71393417-71393825 | expRegAs_chr11_7370_+ |
7 | lnc-AP000867.1-2 | chr11:71421533-71421627 | ENSG00000254504.1 |
8 | lnc-DEFB108B-1 | chr11:71595453-71596531 | XLOC_009200 |
9 | lnc-DEFB108B-2 | chr11:71548445-71548756 | NONHSAT022717 |
10 | lnc-RP11-849H4.2.1-1 | chr11:71524389-71524529 | NONHSAT022713 |
11 | lnc-AP000867.1-2 | chr11:71383721-71384047 | ENSG00000254504.1 |
12 | lnc-DEFB108B-1 | chr11:71589499-71589564 | NONHSAT022724 |
13 | lnc-DEFB108B-1 | chr11:71578414-71578614 | XLOC_009200 |
14 | lnc-AP000867.1-1 | chr11:71412314-71412531 | ENSG00000254972 |
15 | lnc-RP11-849H4.2.1-1 | chr11:71529199-71529284 | ENSG00000248671.3 |
16 | lnc-RP11-849H4.2.1-1 | chr11:71527956-71528142 | ENSG00000248671.3 |
17 | lnc-AP000867.1-3 | chr11:71310043-71310371 | NONHSAT022693 |
18 | lnc-RNF121-3 | chr11:71616316-71616568 | expReg_chr11_7443_+ |
19 | lnc-RP11-849H4.2.1-1 | chr11:71517696-71518702 | NONHSAT022713 |
20 | lnc-FAM86C1-5 | chr11:71392883-71393202 | expRegAs_chr11_7367_+ |
21 | lnc-FAM86C1-1 | chr11:71425421-71425604 | NONHSAT022701 |
22 | lnc-DEFB108B-1 | chr11:71595455-71595604 | NONHSAT022724 |
23 | lnc-DEFB108B-1 | chr11:71580800-71580844 | XLOC_009200 |
24 | lnc-NUMA1-1 | chr11:71589418-71589551 | XLOC_009494 |
25 | lnc-FAM86C1-1 | chr11:71422786-71422863 | NONHSAT022701 |
26 | lnc-NUMA1-1 | chr11:71581076-71581470 | XLOC_009494 |
27 | lnc-FAM86C1-1 | chr11:71433219-71433273 | NONHSAT022701 |
28 | lnc-AP000867.1-3 | chr11:71314349-71314399 | NONHSAT022693 |
29 | lnc-AP000867.1-1 | chr11:71415223-71415306 | ENSG00000254972 |
30 | lnc-RNF121-4 | chr11:71616061-71616314 | expReg_chr11_7442_+ |
31 | lnc-DEFB108B-2 | chr11:71545758-71545904 | NONHSAT022717 |
32 | lnc-RP11-849H4.2.1-1 | chr11:71518637-71518702 | ENSG00000248671.3 |
33 | lnc-RNF121-6 | chr11:71612764-71612976 | expReg_chr11_7433_+ |
No data |
No data |
Variant related genes | Relation type |
---|---|
OR7E87P | TF binding region |
OR7E128P | TF binding region |
OR7E4P | TF binding region |
ENSG00000225805 | TF binding region |
ENSG00000248671 | TF binding region |
ENSG00000266859 | TF binding region |
ZNF705E | TF binding region |
ENSG00000255157 | TF binding region |
ENSG00000264091 | TF binding region |
ENSG00000254805 | TF binding region |
ALG1L9P | TF binding region |
ENPP7P8 | TF binding region |
ENSG00000221458 | TF binding region |
DEFB108B | TF binding region |
FAM86C1 | TF binding region |
ENSG00000255415 | TF binding region |
ENSG00000223235 | TF binding region |
ENSG00000254972 | TF binding region |
ENSG00000187811 | TF binding region |
RNA5SP342 | TF binding region |
OR7E126P | TF binding region |
KRTAP5-11 | TF binding region |
UNC93B6 | TF binding region |
RPS3AP41 | TF binding region |
OR7E87P | CpG island |
OR7E128P | CpG island |
OR7E4P | CpG island |
ENSG00000225805 | CpG island |
ENSG00000248671 | CpG island |
ENSG00000266859 | CpG island |
ZNF705E | CpG island |
ENSG00000255157 | CpG island |
ENSG00000264091 | CpG island |
ENSG00000254805 | CpG island |
ALG1L9P | CpG island |
ENPP7P8 | CpG island |
ENSG00000221458 | CpG island |
DEFB108B | CpG island |
FAM86C1 | CpG island |
ENSG00000255415 | CpG island |
ENSG00000223235 | CpG island |
ENSG00000254972 | CpG island |
ENSG00000187811 | CpG island |
RNA5SP342 | CpG island |
OR7E126P | CpG island |
KRTAP5-11 | CpG island |
UNC93B6 | CpG island |
RPS3AP41 | CpG island |
ENSG00000160172 | chromatin interactions |
ENSG00000249387 | chromatin interactions |
ENSG00000166492 | chromatin interactions |
ENSG00000248671 | chromatin interactions |
ENSG00000130522 | chromatin interactions |
ENSG00000158483 | chromatin interactions |
ENSG00000118894 | chromatin interactions |
ENSG00000244026 | chromatin interactions |
OR11A1 | miRNA target sites |
KIAA1217 | miRNA target sites |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs200304893 | chr11:71298410-71298411 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
2 | rs116166109 | chr11:71298414-71298415 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
3 | rs149069292 | chr11:71298425-71298426 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
4 | rs528918916 | chr11:71298438-71298439 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
5 | rs189674774 | chr11:71298446-71298447 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
6 | rs11234278 | chr11:71298457-71298458 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
7 | rs539566371 | chr11:71298467-71298468 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
8 | rs375107177 | chr11:71298468-71298469 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
9 | rs558875015 | chr11:71298491-71298492 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
10 | rs571059380 | chr11:71298493-71298494 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
11 | rs538131611 | chr11:71298495-71298496 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
12 | rs556458530 | chr11:71298496-71298497 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
13 | rs574455920 | chr11:71298498-71298499 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
14 | rs535463821 | chr11:71298520-71298521 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
15 | rs10898353 | chr11:71298529-71298530 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
16 | rs10898354 | chr11:71298562-71298563 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
17 | rs182644504 | chr11:71298563-71298564 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
18 | rs147104059 | chr11:71298570-71298571 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
19 | rs576215114 | chr11:71298576-71298577 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
20 | rs185119994 | chr11:71298591-71298592 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
21 | rs185372689 | chr11:71298595-71298596 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
22 | rs11234279 | chr11:71298609-71298610 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
23 | rs150679179 | chr11:71298615-71298616 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
24 | rs528855319 | chr11:71298619-71298620 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
25 | rs547410950 | chr11:71298620-71298621 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
26 | rs2096799 | chr11:71298627-71298628 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
27 | rs534388621 | chr11:71298679-71298680 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
28 | rs183292175 | chr11:71298682-71298683 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
29 | rs189078220 | chr11:71298683-71298684 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
30 | rs141028184 | chr11:71298689-71298690 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
31 | rs9704734 | chr11:71298726-71298727 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
32 | rs113435464 | chr11:71298767-71298768 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
33 | rs11234282 | chr11:71298782-71298783 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
34 | rs568419756 | chr11:71298785-71298786 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
35 | rs535793339 | chr11:71298786-71298787 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
36 | rs553741121 | chr11:71298789-71298790 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs572437660 | chr11:71298800-71298801 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
38 | rs539531616 | chr11:71298818-71298819 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
39 | rs558255779 | chr11:71298828-71298829 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
40 | rs576124440 | chr11:71298841-71298842 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
41 | rs543653733 | chr11:71298842-71298843 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
42 | rs9704735 | chr11:71298849-71298850 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
43 | rs573971171 | chr11:71298867-71298868 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
44 | rs541369158 | chr11:71298869-71298870 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
45 | rs559060690 | chr11:71298870-71298871 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
46 | rs532963992 | chr11:71298904-71298905 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
47 | rs149384561 | chr11:71298912-71298913 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
48 | rs563404752 | chr11:71298935-71298936 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
49 | rs556657263 | chr11:71298978-71298979 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
50 | rs66864790 | chr11:71299011-71299012 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Medulloblastoma | 21979893 | CNVD |
Gastric cancer | 17908304 | CNVD |
Multiple myeloma | 20724749 | CNVD |
Wilms tumour | 21544195 | CNVD |
Autism | 22495311 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Non-small cell lung cancer | 21385341 | CNVD |
Intellectual disability | 22102821 | CNVD |
Glioblastoma multiforme | 21138945 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Cancer | 21637783 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Chronic lymphocytic leukemia | 21795749 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Neuroblastoma | 21484798 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Oral cancer | 21386901 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Breast cancer | 20837533 | CNVD |
Breast cancer | 21264507 | CNVD |
Cervical cancer | 21063398 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Liposarcoma | 21253554 | CNVD |
Neuroblastoma | 18923524 | CNVD |
Neuroblastoma | 18664255 | CNVD |
Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
Multiple myeloma | 17077331 | CNVD |
Neuroblastoma | 17533364 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Lung cancer | 18438408 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Prostate cancer | 18632612 | CNVD |
Smith-Lemli-Opitz syndrome | 21572526 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Multiple myeloma | 16461302 | CNVD |
Cancer | 16751803 | CNVD |
Seminomas | 18059402 | CNVD |
Acute lymphoblastic leukemia | 21339820 | CNVD |
Chordoma | 21602918 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Melanoma | 18172304 | CNVD |
Breast cancer | 21806811 | CNVD |
Breast cancer | 22002566 | CNVD |
Ductal carcinoma | 18381933 | CNVD |
Retinoblastoma | 22278416 | CNVD |
Breast cancer | 20953835 | CNVD |
oto-dental syndrome | 17656375 | CNVD |
Asthma | 21956041 | CNVD |
Breast cancer | 17603634 | CNVD |
Ovarian neoplasms | 16753589 | CNVD |
Non-small cell lung cancer | 20864512 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Cervical cancer | 21062161 | CNVD |
Breast cancer | 21509527 | CNVD |
Breast cancer | 17001317 | CNVD |
Oral squamous cell carcinoma | 16619035 | CNVD |
Intracranial aneurysm | 16715129 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
Esophageal adenocarcinoma | 18820669 | CNVD |
Colorectal cancer | 16882699 | CNVD |
Berardinelli-seip congenital generalized lipodystrophy | 17668395 | CNVD |
Spinal muscular atrophy | 17668395 | CNVD |
Neonatal seizures | 17668395 | CNVD |
Neonatal seizures | 17668391 | CNVD |
Neuroticism | 17667963 | CNVD |
Cancer | 17916600 | CNVD |
Squamous cell cancer | 19047905 | CNVD |
Multiple endocrine neoplasia type 1 | 19566914 | CNVD |
XY sex reversal | 17503084 | CNVD |
Berardinelli-seip congenital generalized lipodystrophy | 17668391 | CNVD |
Maculopathy | 17646752 | CNVD |
Breast cancer | 17899364 | CNVD |
Breast cancer | 17157792 | CNVD |
Esophageal squamous carcinoma | 18350619 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Cancer | 20164919 | CNVD |
Hodgkin''s lymphoma | 18641027 | CNVD |
Breast cancer | 21364760 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Ovarian clear cell carcinoma | 19293255 | CNVD |
Cancer | 22183965 | CNVD |
Melanoma | 22183965 | CNVD |
Esophageal squamous carcinoma | 18405350 | CNVD |
Breast cancer | 16620391 | CNVD |
Multiple myeloma | 17550852 | CNVD |
Neuroblastoma | 18923191 | CNVD |
low-grade B-cell lymphoma tumor | 18367492 | CNVD |
Chronic lymphocytic leukemia | 22228453 | CNVD |
Multiple myeloma | 16616336 | CNVD |
Urothelial cell carcinoma | 18451213 | CNVD |
Leukoplakia | 24403051 | CNVD |
Prostate cancer | 17217626 | CNVD |
Cancer | 22429812 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
Breast cancer | 22522925 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
Breast cancer | 17142309 | CNVD |
Ovarian cancer | 21781307 | CNVD |
Cancer | 17440070 | CNVD |
Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
Breast cancer | 20668451 | CNVD |
Cancer | 20668451 | CNVD |
Lung cancer | 20668451 | CNVD |
Ovarian cancer | 20668451 | CNVD |
Pancreas cancer | 20668451 | CNVD |
Prostate cancer | 20668451 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr11:71291800-71299000 | Weak transcription | Gastric | stomach |
2 | chr11:71293600-71300000 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
3 | chr11:71297000-71301000 | Enhancers | Fetal Intestine Small | intestine |
4 | chr11:71297600-71299000 | Weak transcription | Fetal Intestine Large | intestine |
5 | chr11:71298000-71298800 | Enhancers | Fetal Adrenal Gland | Adrenal Gland |
6 | chr11:71298800-71299000 | Weak transcription | Pancreas | Pancrea |
7 | chr11:71298800-71299800 | Enhancers | HepG2 | liver |
8 | chr11:71299000-71299200 | Enhancers | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
9 | chr11:71299000-71299200 | Enhancers | Stomach Mucosa | stomach |
10 | chr11:71299000-71299600 | Enhancers | Foreskin Keratinocyte Primary Cells skin03 | Skin |
11 | chr11:71299000-71299800 | Enhancers | Breast Myoepithelial Primary Cells | Breast |
12 | chr11:71299000-71300200 | Enhancers | HUES6 Cell Line | embryonic stem cell |
13 | chr11:71299000-71300200 | Enhancers | Fetal Intestine Large | intestine |
14 | chr11:71299000-71300200 | Enhancers | Gastric | stomach |
15 | chr11:71299000-71300400 | Enhancers | HUES64 Cell Line | embryonic stem cell |
16 | chr11:71299000-71300800 | Enhancers | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
17 | chr11:71299000-71301000 | Enhancers | Duodenum Mucosa | Duodenum |
18 | chr11:71299000-71301000 | Enhancers | Placenta | Placenta |
19 | chr11:71299000-71301000 | Enhancers | Pancreas | Pancrea |
20 | chr11:71299200-71299800 | Weak transcription | Stomach Mucosa | stomach |
21 | chr11:71299200-71300000 | Enhancers | hESC Derived CD56+ Mesoderm Cultured Cells | ES cell derived |
22 | chr11:71299600-71300200 | Enhancers | Foreskin Melanocyte Primary Cells skin01 | Skin |
23 | chr11:71299800-71300000 | Enhancers | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
24 | chr11:71299800-71300600 | Enhancers | Stomach Mucosa | stomach |
25 | chr11:71300000-71300200 | Enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |
26 | chr11:71300000-71300600 | Enhancers | Foreskin Keratinocyte Primary Cells skin02 | Skin |
27 | chr11:71314200-71314600 | Enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |
28 | chr11:71314400-71314600 | Bivalent Enhancer | Fetal Muscle Trunk | muscle |
29 | chr11:71315200-71316000 | Enhancers | Fetal Thymus | thymus |
30 | chr11:71316400-71316600 | Bivalent Enhancer | HUES6 Cell Line | embryonic stem cell |
31 | chr11:71316400-71316600 | Bivalent Enhancer | Primary T cells fromperipheralblood | blood |
32 | chr11:71317800-71318000 | Bivalent Enhancer | iPS DF 19.11 Cell Line | embryonic stem cell |
33 | chr11:71317800-71319000 | Bivalent/Poised TSS | ES-I3 Cell Line | embryonic stem cell |
34 | chr11:71317800-71319000 | Bivalent/Poised TSS | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
35 | chr11:71317800-71319600 | Bivalent/Poised TSS | iPS-15b Cell Line | embryonic stem cell |
36 | chr11:71318000-71318200 | Bivalent/Poised TSS | H9 Cell Line | embryonic stem cell |
37 | chr11:71318000-71318200 | Flanking Bivalent TSS/Enh | HUES6 Cell Line | embryonic stem cell |
38 | chr11:71318000-71318200 | Bivalent Enhancer | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
39 | chr11:71318000-71318200 | Bivalent Enhancer | Fetal Adrenal Gland | Adrenal Gland |
40 | chr11:71318000-71318400 | Bivalent Enhancer | Foreskin Keratinocyte Primary Cells skin03 | Skin |
41 | chr11:71318000-71318600 | Bivalent Enhancer | Primary T helper cells PMA-I stimulated | -- |
42 | chr11:71318000-71318600 | Bivalent/Poised TSS | Duodenum Smooth Muscle | Duodenum |
43 | chr11:71318000-71318600 | Bivalent Enhancer | Placenta | Placenta |
44 | chr11:71318000-71318600 | Bivalent Enhancer | Skeletal Muscle Male | skeletal muscle |
45 | chr11:71318000-71318800 | Flanking Bivalent TSS/Enh | iPS DF 19.11 Cell Line | embryonic stem cell |
46 | chr11:71318000-71318800 | Bivalent Enhancer | Skeletal Muscle Female | skeletal muscle |
47 | chr11:71318000-71319000 | Active TSS | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
48 | chr11:71318000-71319000 | Bivalent/Poised TSS | iPS-18 Cell Line | embryonic stem cell |
49 | chr11:71318000-71319000 | Enhancers | Primary T cells effector/memory enriched fromperipheralblood | blood |
50 | chr11:71318000-71319000 | Bivalent Enhancer | Stomach Mucosa | stomach |