Variant report
Variant | nsv554405 |
---|---|
Chromosome Location | chr11:50238212-50642550 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:510)
- CpG islands (count:1098)
- Chromatin interactive region (count:1)
- LncRNA region (count:45)
- 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 | ATF1 | chr11:50257555-50257921 | K562 | blood: | n/a | n/a |
2 | ATF1 | chr11:50381201-50381204 | K562 | blood: | n/a | n/a |
3 | ATF1 | chr11:50409411-50409611 | K562 | blood: | n/a | n/a |
4 | ATF3 | chr11:50257564-50257818 | K562 | blood: | n/a | chr11:50257726-50257746 chr11:50257724-50257737 chr11:50257584-50257592 chr11:50257723-50257738 chr11:50257725-50257736 |
5 | BATF | chr11:50251866-50252053 | GM12878 | blood: | n/a | n/a |
6 | BHLHE40 | chr11:50609960-50609990 | GM12878 | blood: | n/a | n/a |
7 | BHLHE40 | chr11:50257408-50257634 | K562 | blood: | n/a | chr11:50257599-50257615 |
8 | BRCA1 | chr11:50609964-50609989 | GM12878 | blood: | n/a | n/a |
9 | CCNT2 | chr11:50257299-50257888 | K562 | blood: | n/a | n/a |
10 | CEBPB | chr11:50256020-50256220 | HepG2 | liver: | n/a | chr11:50256104-50256115 |
11 | CEBPB | chr11:50256005-50256238 | K562 | blood: | n/a | chr11:50256104-50256115 |
12 | CEBPB | chr11:50409463-50409610 | H1-hESC | embryonic stem cell: | n/a | n/a |
13 | CHD1 | chr11:50409410-50409777 | H1-hESC | embryonic stem cell: | n/a | n/a |
14 | CHD1 | chr11:50382847-50382977 | GM12878 | blood: | n/a | n/a |
15 | CHD1 | chr11:50609964-50609986 | GM12878 | blood: | n/a | n/a |
16 | CHD2 | chr11:50491957-50491986 | Hela-S3 | cervix: | n/a | n/a |
17 | CHD2 | chr11:50522282-50522663 | Hela-S3 | cervix: | n/a | n/a |
18 | CHD2 | chr11:50614701-50614706 | HepG2 | liver: | n/a | n/a |
19 | CHD2 | chr11:50609872-50609989 | GM12878 | blood: | n/a | n/a |
20 | CREB1 | chr11:50257411-50258094 | K562 | blood: | n/a | chr11:50257724-50257737 |
21 | CREB1 | chr11:50257549-50258023 | K562 | blood: | n/a | chr11:50257724-50257737 |
22 | CTCF | chr11:50252669-50252790 | Fibrobl | skin: | n/a | n/a |
23 | CTCF | chr11:50318115-50318201 | GM10266 | blood: | n/a | n/a |
24 | CTCF | chr11:50264521-50264545 | GM13976 | blood: | n/a | n/a |
25 | CTCF | chr11:50252435-50252463 | GM13977 | blood: | n/a | n/a |
26 | CTCF | chr11:50304509-50304621 | Kidney_OC | kidney: | n/a | n/a |
27 | CTCF | chr11:50257340-50257490 | SK-N-SH_RA | brain: | n/a | chr11:50257436-50257449 |
28 | CTCF | chr11:50252665-50252796 | Gliobla | brain: | n/a | n/a |
29 | CTCF | chr11:50251549-50251566 | GM12878 | blood: | n/a | n/a |
30 | CTCF | chr11:50470750-50470789 | Lung_OC | lung: | n/a | n/a |
31 | CTCF | chr11:50294779-50294808 | GM20000 | blood: | n/a | n/a |
32 | CTCF | chr11:50251518-50251615 | Gliobla | brain: | n/a | n/a |
33 | CTCF | chr11:50505847-50505946 | HepG2 | liver: | n/a | n/a |
34 | CTCF | chr11:50251547-50251577 | MCF-7 | breast: | n/a | n/a |
35 | CTCF | chr11:50277249-50277334 | Spleen_OC | spleen: | n/a | n/a |
36 | CTCF | chr11:50382446-50382672 | IMR90 | lung: | n/a | n/a |
37 | CTCF | chr11:50293200-50293350 | SAEC | small airway: | n/a | n/a |
38 | CTCF | chr11:50505637-50505695 | GM10248 | blood: | n/a | n/a |
39 | CTCF | chr11:50317679-50317740 | GM13976 | blood: | n/a | n/a |
40 | CTCF | chr11:50505847-50505946 | Hela-S3 | cervix: | n/a | n/a |
41 | CTCF | chr11:50262617-50262644 | Kidney_OC | kidney: | n/a | n/a |
42 | CTCF | chr11:50300095-50300112 | GM10248 | blood: | n/a | n/a |
43 | CTCF | chr11:50472977-50473050 | GM13976 | blood: | n/a | n/a |
44 | CTCF | chr11:50399914-50399973 | GM20000 | blood: | n/a | n/a |
45 | CTCF | chr11:50312320-50312366 | Kidney_OC | kidney: | n/a | n/a |
46 | CTCF | chr11:50291325-50291378 | LNCaP | prostate: | n/a | n/a |
47 | CTCF | chr11:50252685-50252782 | MCF-7 | breast: | n/a | n/a |
48 | CTCF | chr11:50316423-50316519 | GM10266 | blood: | n/a | n/a |
49 | CTCF | chr11:50251508-50251624 | HUVEC | blood vessel: | n/a | n/a |
50 | CTCF | chr11:50251507-50251620 | Hela-S3 | cervix: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr11:50257633-50257683 | ECC-1 | luminal epithelium: | n/a |
2 | chr11:50238214-50238264 | A549 | lung: | n/a |
3 | chr11:50258273-50258323 | BE2_C | brain: | n/a |
4 | chr11:50256574-50256624 | HCPEpiC | choroid plexus: | n/a |
5 | chr11:50257830-50257880 | LNCaP | prostate: | n/a |
6 | chr11:50257256-50257306 | H1-hESC | embryonic stem cell: | embryo |
7 | chr11:50368251-50368301 | MCF-7 | breast: | n/a |
8 | chr11:50258750-50258800 | GM12878 | blood: | n/a |
9 | chr11:50257752-50257802 | AG09309 | skin: | n/a |
10 | chr11:50257625-50257675 | NB4 | blood: | n/a |
11 | chr11:50257633-50257683 | HMEC | breast: | n/a |
12 | chr11:50368251-50368301 | HCPEpiC | choroid plexus: | n/a |
13 | chr11:50241016-50241066 | AoSMC | blood vessel: | n/a |
14 | chr11:50254503-50254553 | Caco-2 | colon: | n/a |
15 | chr11:50257633-50257683 | U87 | brain: | n/a |
16 | chr11:50257752-50257802 | GM12878 | blood: | n/a |
17 | chr11:50258750-50258800 | Jurkat | blood: | n/a |
18 | chr11:50257979-50258029 | PANC-1 | pancreas: | n/a |
19 | chr11:50258273-50258323 | SAEC | small airway: | n/a |
20 | chr11:50371681-50371731 | ECC-1 | luminal epithelium: | n/a |
21 | chr11:50257496-50257546 | SK-N-SH | brain: | n/a |
22 | chr11:50256574-50256624 | AoSMC | blood vessel: | n/a |
23 | chr11:50368251-50368301 | SK-N-MC | brain: | n/a |
24 | chr11:50258750-50258800 | NHDF-neo | bronchial: | n/a |
25 | chr11:50260762-50260812 | HUVEC | blood vessel: | n/a |
26 | chr11:50257625-50257675 | CMK | blood: | n/a |
27 | chr11:50257771-50257821 | NB4 | blood: | n/a |
28 | chr11:50256574-50256624 | T-47D | breast: | n/a |
29 | chr11:50371681-50371731 | NHBE | bronchial: | n/a |
30 | chr11:50241016-50241066 | SK-N-SH | brain: | n/a |
31 | chr11:50257256-50257306 | BJ | skin: | n/a |
32 | chr11:50257496-50257546 | BJ | skin: | n/a |
33 | chr11:50257830-50257880 | HUVEC | blood vessel: | n/a |
34 | chr11:50257752-50257802 | SAEC | small airway: | n/a |
35 | chr11:50241016-50241066 | HCF | heart: | n/a |
36 | chr11:50257496-50257546 | AG09309 | skin: | n/a |
37 | chr11:50257496-50257546 | HCM | heart: | n/a |
38 | chr11:50257979-50258029 | AG04450 | lung: | fetal |
39 | chr11:50257496-50257546 | LNCaP | prostate: | n/a |
40 | chr11:50241016-50241066 | HRPEpiC | eye: | n/a |
41 | chr11:50257979-50258029 | HL-60 | blood: | n/a |
42 | chr11:50257256-50257306 | Jurkat | blood: | n/a |
43 | chr11:50371681-50371731 | BJ | skin: | n/a |
44 | chr11:50254503-50254553 | K562 | blood: | n/a |
45 | chr11:50238214-50238264 | GM12892 | blood: | n/a |
46 | chr11:50257752-50257802 | HIPEpiC | eye: | n/a |
47 | chr11:50256574-50256624 | NT2-D1 | testis: | n/a |
48 | chr11:50258273-50258323 | HEEpiC | esophagus: | n/a |
49 | chr11:50257625-50257675 | ovcar-3 | ovarian: | n/a |
50 | chr11:50257496-50257546 | ovcar-3 | ovarian: | n/a |
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr11:50256839..50259422-chr11:50261676..50263683,2 | K562 | blood: |
(count:45 , 50 per page) page:
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-OR4C13-9 | chr11:50378065-50378165 | NONHSAT021345 |
2 | lnc-OR4C13-1 | chr11:50262310-50262433 | NONHSAT021336 |
3 | lnc-OR4C13-7 | chr11:50266792-50266898 | NONHSAT021339 |
4 | lnc-OR4C13-9 | chr11:50375235-50375391 | NONHSAT021345 |
5 | lnc-OR4C13-9 | chr11:50368318-50368359 | NONHSAT021344 |
6 | lnc-OR4C13-1 | chr11:50263752-50263827 | NONHSAT021336 |
7 | lnc-OR4C13-9 | chr11:50368318-50368359 | NR_024504 |
8 | lnc-OR4C13-7 | chr11:50266792-50266965 | NONHSAT021338 |
9 | lnc-OR4C13-7 | chr11:50274586-50274767 | NONHSAT021339 |
10 | lnc-OR4C13-1 | chr11:50261115-50261299 | ENSG00000254518 |
11 | lnc-OR4C13-1 | chr11:50257750-50258088 | ENSG00000254518 |
12 | lnc-OR4C13-9 | chr11:50379313-50379548 | NONHSAT021345 |
13 | lnc-OR4C13-9 | chr11:50379775-50379803 | NONHSAT021345 |
14 | lnc-OR4C13-7 | chr11:50274586-50274778 | NONHSAT021338 |
15 | lnc-OR4C13-9 | chr11:50376439-50376850 | NONHSAT021345 |
16 | lnc-OR4C13-7 | chr11:50280085-50280169 | NONHSAT021339 |
17 | lnc-OR4C13-1 | chr11:50261115-50261299 | NONHSAT021336 |
18 | lnc-OR4C13-7 | chr11:50280085-50280169 | NONHSAT021340 |
19 | lnc-OR4C13-7 | chr11:50266852-50266898 | NONHSAT021340 |
20 | lnc-OR4C13-9 | chr11:50368739-50368821 | NONHSAT021344 |
21 | lnc-OR4C13-7 | chr11:50313156-50313246 | NONHSAT021340 |
22 | lnc-OR4C13-9 | chr11:50375235-50375391 | NONHSAT021344 |
23 | lnc-OR4C13-7 | chr11:50301870-50302020 | NONHSAT021343 |
24 | lnc-OR4C13-7 | chr11:50302810-50302996 | NONHSAT021339 |
25 | lnc-OR4C13-9 | chr11:50376439-50376850 | NONHSAT021344 |
26 | lnc-OR4C13-9 | chr11:50379313-50379802 | NONHSAT021344 |
27 | lnc-OR4C13-9 | chr11:50378065-50378165 | NONHSAT021344 |
28 | lnc-OR4C13-7 | chr11:50320143-50320239 | NONHSAT021340 |
29 | lnc-OR4C13-1 | chr11:50257750-50258210 | NONHSAT021336 |
30 | lnc-OR4C13-9 | chr11:50378065-50378165 | NR_024504 |
31 | lnc-OR4C13-7 | chr11:50302810-50303098 | NONHSAT021342 |
32 | lnc-OR4C13-7 | chr11:50279538-50279677 | NONHSAT021339 |
33 | lnc-OR4C13-7 | chr11:50279538-50279677 | NONHSAT021340 |
34 | lnc-OR4C13-7 | chr11:50274586-50274767 | NONHSAT021340 |
35 | lnc-OR4C13-9 | chr11:50375274-50375391 | NR_024504 |
36 | lnc-OR4C13-1 | chr11:50257789-50258088 | ENSG00000254518 |
37 | lnc-OR4C13-7 | chr11:50279839-50280169 | NONHSAT021342 |
38 | lnc-OR4C13-9 | chr11:50379313-50379548 | NR_024504 |
39 | lnc-OR4C13-1 | chr11:50263752-50263827 | ENSG00000254518 |
40 | lnc-OR4C13-9 | chr11:50368739-50368821 | NR_024504 |
41 | lnc-OR4C13-7 | chr11:50302810-50303035 | NONHSAT021343 |
42 | lnc-OR4C13-7 | chr11:50320710-50320877 | NONHSAT021340 |
43 | lnc-OR4C13-1 | chr11:50262310-50262433 | ENSG00000254518 |
44 | lnc-OR4C13-9 | chr11:50379775-50379802 | NR_024504 |
45 | lnc-OR4C13-7 | chr11:50301079-50301142 | NONHSAT021343 |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000254518 | TF binding region |
ENSG00000255042 | TF binding region |
ENSG00000254840 | TF binding region |
ENSG00000255001 | TF binding region |
ENSG00000214883 | TF binding region |
ENSG00000254518 | CpG island |
ENSG00000255042 | CpG island |
ENSG00000254840 | CpG island |
ENSG00000255001 | CpG island |
ENSG00000214883 | CpG island |
ENSG00000254518 | chromatin interactions |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs2183383 | chr11:50238212-50238213 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
2 | rs560092210 | chr11:50238213-50238214 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
3 | rs182588104 | chr11:50238214-50238215 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
4 | rs11245615 | chr11:50238230-50238231 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
5 | rs187621710 | chr11:50238235-50238236 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
6 | rs149770847 | chr11:50238238-50238239 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
7 | rs556581322 | chr11:50238266-50238267 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
8 | rs547800389 | chr11:50238291-50238292 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
9 | rs567680365 | chr11:50238297-50238298 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
10 | rs190587445 | chr11:50238300-50238301 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
11 | rs111846877 | chr11:50238301-50238302 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
12 | rs570447264 | chr11:50238306-50238307 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
13 | rs539252682 | chr11:50238317-50238318 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
14 | rs116042988 | chr11:50238348-50238349 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
15 | rs576027658 | chr11:50238380-50238381 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
16 | rs538503742 | chr11:50238381-50238382 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
17 | rs183788087 | chr11:50242202-50242203 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
18 | rs540692307 | chr11:50242246-50242247 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
19 | rs533183797 | chr11:50242271-50242272 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
20 | rs558273158 | chr11:50242272-50242273 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
21 | rs560491636 | chr11:50242277-50242278 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
22 | rs116454416 | chr11:50242314-50242315 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
23 | rs551692432 | chr11:50242357-50242358 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
24 | rs557105385 | chr11:50242368-50242369 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
25 | rs11245617 | chr11:50242431-50242432 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
26 | rs187574807 | chr11:50242458-50242459 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs543258339 | chr11:50242472-50242473 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs530758768 | chr11:50242486-50242487 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs559791905 | chr11:50242491-50242492 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs573228196 | chr11:50242493-50242494 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs545404417 | chr11:50242548-50242549 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs186777092 | chr11:50242551-50242552 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs530995420 | chr11:50242570-50242571 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs139789292 | chr11:50242617-50242618 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs561026579 | chr11:50242621-50242622 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs529951516 | chr11:50242630-50242631 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs116304412 | chr11:50242631-50242632 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs550524539 | chr11:50242650-50242651 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs117320430 | chr11:50242657-50242658 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs191245648 | chr11:50242675-50242676 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs377118977 | chr11:50242686-50242687 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs184152558 | chr11:50242697-50242698 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs537513375 | chr11:50242785-50242786 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs117653193 | chr11:50242788-50242789 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs186846062 | chr11:50242832-50242833 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs566173412 | chr11:50242834-50242835 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs536433886 | chr11:50242845-50242846 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs192926769 | chr11:50242874-50242875 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs538241387 | chr11:50242889-50242890 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs185152959 | chr11:50242900-50242901 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Chordoma | 21602918 | CNVD |
Breast cancer | 21949216 | CNVD |
Cancer | 21637783 | CNVD |
Non-syndromic sensorineural hearing loss | 19222835 | CNVD |
T-cell acute lymphoblastic leukemia | 20065082 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Astrocytoma | 17387387 | CNVD |
Breast cancer | 21264507 | CNVD |
Beckwith-Wiedemann syndrome | 21518781 | CNVD |
Wilms tumour | 21518781 | CNVD |
Hepatoblastoma | 21518781 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Gastrointestinal stromal cancer | 17535989 | CNVD |
Paraganglioma | 17535989 | CNVD |
Pulmonary chondroma | 17535989 | CNVD |
Wilms tumour | 21544195 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Gastric cancer | 17908304 | CNVD |
Multiple myeloma | 20724749 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Autism | 22495311 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Non-small cell lung cancer | 21385341 | CNVD |
Intellectual disability | 22102821 | CNVD |
Renal cell carcinoma | 18194544 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Potocki-Shaffer syndrome | 19222835 | CNVD |
WAGR syndrome | 19222835 | CNVD |
Lung cancer | 18438408 | CNVD |
Breast cancer | 16608533 | CNVD |
Hirschsprung''s Disease | 21712996 | CNVD |
Follicular lymphoma | 20505157 | CNVD |
Colorectal cancer | 21128281 | CNVD |
Glioblastoma multiforme | 21138945 | CNVD |
Breast cancer | 21364760 | CNVD |
Prostate cancer | 18632612 | CNVD |
Breast cancer | 21990379 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Intellectual disability | 22045946 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Schizophrenia | 23813976 | CNVD |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
Mortal | 21835882 | CNVD |
Autism | 22495309 | CNVD |
Breast cancer | 21785460 | CNVD |
Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
Esophageal cancer | 21851588 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Breast cancer | 22522925 | CNVD |
Breast cancer | 17142309 | CNVD |
Bipolar disorder | 19214233 | CNVD |
Medulloblastoma | 21163964 | CNVD |
early-passage human iPS cells | 21368824 | CNVD |
Bipolar disorder | 19114987 | CNVD |
Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr11:50238000-50238400 | ZNF genes & repeats | Esophagus | oesophagus |
2 | chr11:50242200-50242400 | ZNF genes & repeats | Placenta | Placenta |
3 | chr11:50242400-50246200 | Weak transcription | Placenta | Placenta |
4 | chr11:50246400-50256200 | Weak transcription | Placenta | Placenta |
5 | chr11:50250800-50256200 | Weak transcription | K562 | blood |
6 | chr11:50256200-50256400 | Enhancers | Placenta | Placenta |
7 | chr11:50256200-50258600 | Active TSS | K562 | blood |
8 | chr11:50256400-50256800 | Flanking Active TSS | Placenta | Placenta |
9 | chr11:50256800-50257200 | Active TSS | Placenta | Placenta |
10 | chr11:50257000-50258200 | ZNF genes & repeats | Fetal Adrenal Gland | Adrenal Gland |
11 | chr11:50257200-50257400 | Flanking Active TSS | Placenta | Placenta |
12 | chr11:50257200-50257600 | Active TSS | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
13 | chr11:50257200-50257600 | Active TSS | H9 Derived Neuron Cultured Cells | ES cell derived |
14 | chr11:50257200-50257600 | Active TSS | Primary T cells fromperipheralblood | blood |
15 | chr11:50257200-50257600 | Active TSS | Primary T regulatory cells fromperipheralblood | blood |
16 | chr11:50257200-50257600 | Active TSS | Brain Cingulate Gyrus | brain |
17 | chr11:50257200-50257600 | ZNF genes & repeats | Fetal Intestine Small | intestine |
18 | chr11:50257200-50257600 | ZNF genes & repeats | Fetal Stomach | stomach |
19 | chr11:50257200-50257600 | Active TSS | Ovary | ovary |
20 | chr11:50257200-50257600 | Active TSS | Psoas Muscle | Psoas |
21 | chr11:50257200-50257600 | Active TSS | Right Atrium | heart |
22 | chr11:50257200-50257600 | Active TSS | Right Ventricle | heart |
23 | chr11:50257200-50257600 | Active TSS | Skeletal Muscle Female | skeletal muscle |
24 | chr11:50257200-50257600 | Active TSS | Stomach Smooth Muscle | stomach |
25 | chr11:50257200-50257600 | Active TSS | HSMM | muscle |
26 | chr11:50257200-50258000 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
27 | chr11:50257200-50258000 | ZNF genes & repeats | Gastric | stomach |
28 | chr11:50257200-50258000 | ZNF genes & repeats | Pancreas | Pancrea |
29 | chr11:50257200-50258200 | ZNF genes & repeats | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
30 | chr11:50257400-50258000 | Active TSS | Fetal Lung | lung |
31 | chr11:50257400-50258800 | ZNF genes & repeats | Placenta | Placenta |
32 | chr11:50258000-50260600 | Weak transcription | Gastric | stomach |
33 | chr11:50258800-50274600 | Weak transcription | Placenta | Placenta |
34 | chr11:50260600-50260800 | ZNF genes & repeats | Gastric | stomach |
35 | chr11:50274600-50275400 | Strong transcription | Placenta | Placenta |
36 | chr11:50275400-50277000 | Weak transcription | Placenta | Placenta |
37 | chr11:50295800-50296200 | Enhancers | Adipose Nuclei | Adipose |
38 | chr11:50324400-50325400 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
39 | chr11:50326400-50345800 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
40 | chr11:50326600-50328800 | ZNF genes & repeats | Liver | Liver |
41 | chr11:50330000-50331600 | ZNF genes & repeats | Liver | Liver |
42 | chr11:50337400-50343400 | ZNF genes & repeats | Liver | Liver |
43 | chr11:50337600-50341800 | ZNF genes & repeats | Duodenum Smooth Muscle | Duodenum |
44 | chr11:50340600-50341400 | ZNF genes & repeats | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
45 | chr11:50341600-50345800 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
46 | chr11:50342800-50343200 | Active TSS | Right Atrium | heart |
47 | chr11:50344800-50345600 | Active TSS | Fetal Heart | heart |
48 | chr11:50345400-50345600 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |
49 | chr11:50345800-50346800 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
50 | chr11:50346600-50347000 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |