Variant report
Variant | nsv1060238 |
---|---|
Chromosome Location | chr22:22306272-22583038 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:7508)
- CpG islands (count:2749)
- Chromatin interactive region (count:438)
- LncRNA region (count:39)
- 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 | chr22:22392224-22392534 | K562 | blood: | n/a | n/a |
2 | ARID3A | chr22:22337105-22337394 | HepG2 | liver: | n/a | n/a |
3 | ARID3A | chr22:22510976-22511458 | K562 | blood: | n/a | n/a |
4 | ARID3A | chr22:22535924-22535987 | HepG2 | liver: | n/a | n/a |
5 | ARID3A | chr22:22417403-22417736 | K562 | blood: | n/a | n/a |
6 | ARID3A | chr22:22307263-22307486 | K562 | blood: | n/a | n/a |
7 | ARID3A | chr22:22549750-22550101 | K562 | blood: | n/a | n/a |
8 | ARID3A | chr22:22463869-22465524 | K562 | blood: | n/a | n/a |
9 | ARID3A | chr22:22415037-22415189 | K562 | blood: | n/a | n/a |
10 | ARID3A | chr22:22378057-22378223 | K562 | blood: | n/a | n/a |
11 | ARID3A | chr22:22442521-22442964 | HepG2 | liver: | n/a | n/a |
12 | ARID3A | chr22:22415907-22416441 | HepG2 | liver: | n/a | n/a |
13 | ARID3A | chr22:22477001-22477277 | K562 | blood: | n/a | n/a |
14 | ARID3A | chr22:22468023-22468176 | K562 | blood: | n/a | n/a |
15 | ARID3A | chr22:22564820-22564910 | K562 | blood: | n/a | n/a |
16 | ARID3A | chr22:22457409-22457646 | K562 | blood: | n/a | n/a |
17 | ARID3A | chr22:22384968-22385236 | K562 | blood: | n/a | n/a |
18 | ARID3A | chr22:22465810-22466041 | K562 | blood: | n/a | n/a |
19 | ARID3A | chr22:22560720-22560804 | HepG2 | liver: | n/a | n/a |
20 | ARID3A | chr22:22415118-22415318 | HepG2 | liver: | n/a | n/a |
21 | ARID3A | chr22:22355812-22356985 | K562 | blood: | n/a | n/a |
22 | ARID3A | chr22:22307655-22307768 | HepG2 | liver: | n/a | n/a |
23 | ARID3A | chr22:22306577-22306630 | HepG2 | liver: | n/a | n/a |
24 | ARID3A | chr22:22339268-22339597 | K562 | blood: | n/a | n/a |
25 | ARID3A | chr22:22337039-22337516 | K562 | blood: | n/a | n/a |
26 | ATF1 | chr22:22511153-22511471 | K562 | blood: | n/a | n/a |
27 | ATF1 | chr22:22372503-22372604 | K562 | blood: | n/a | n/a |
28 | ATF1 | chr22:22512634-22512947 | K562 | blood: | n/a | n/a |
29 | ATF1 | chr22:22360525-22360873 | K562 | blood: | n/a | n/a |
30 | ATF1 | chr22:22369120-22369190 | K562 | blood: | n/a | n/a |
31 | ATF1 | chr22:22475770-22475855 | K562 | blood: | n/a | n/a |
32 | ATF1 | chr22:22356266-22356718 | K562 | blood: | n/a | n/a |
33 | ATF1 | chr22:22378052-22378257 | K562 | blood: | n/a | n/a |
34 | ATF1 | chr22:22522930-22523217 | K562 | blood: | n/a | n/a |
35 | ATF1 | chr22:22564831-22565179 | K562 | blood: | n/a | n/a |
36 | ATF1 | chr22:22503937-22503949 | K562 | blood: | n/a | n/a |
37 | ATF1 | chr22:22392194-22392539 | K562 | blood: | n/a | n/a |
38 | ATF1 | chr22:22424538-22424979 | K562 | blood: | n/a | n/a |
39 | ATF1 | chr22:22416087-22416336 | K562 | blood: | n/a | n/a |
40 | ATF1 | chr22:22443522-22443568 | K562 | blood: | n/a | n/a |
41 | ATF1 | chr22:22417546-22417837 | K562 | blood: | n/a | n/a |
42 | ATF1 | chr22:22387947-22388240 | K562 | blood: | n/a | n/a |
43 | ATF1 | chr22:22367936-22368085 | K562 | blood: | n/a | n/a |
44 | ATF2 | chr22:22465320-22465759 | GM12878 | blood: | n/a | n/a |
45 | ATF2 | chr22:22384792-22385975 | GM12878 | blood: | n/a | n/a |
46 | ATF2 | chr22:22549799-22550171 | GM12878 | blood: | n/a | n/a |
47 | ATF2 | chr22:22337013-22337406 | H1-hESC | embryonic stem cell: | n/a | n/a |
48 | ATF2 | chr22:22522113-22522443 | GM12878 | blood: | n/a | n/a |
49 | ATF2 | chr22:22377249-22377905 | GM12878 | blood: | n/a | n/a |
50 | ATF2 | chr22:22549842-22550256 | GM12878 | blood: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr22:22307197-22307247 | BE2_C | brain: | n/a |
2 | chr22:22337369-22337419 | HPAEpiC | pulmonary alveolar: | n/a |
3 | chr22:22337178-22337228 | SK-N-SH_RA | brain: | n/a |
4 | chr22:22469873-22469923 | Caco-2 | colon: | n/a |
5 | chr22:22307197-22307247 | BE2_C | brain: | n/a |
6 | chr22:22337369-22337419 | HPAEpiC | pulmonary alveolar: | n/a |
7 | chr22:22337178-22337228 | SK-N-SH_RA | brain: | n/a |
8 | chr22:22469873-22469923 | Caco-2 | colon: | n/a |
9 | chr22:22337374-22337424 | HNPCEpiC | eye: | n/a |
10 | chr22:22473142-22473192 | GM06990 | blood: | n/a |
11 | chr22:22472743-22472793 | U87 | brain: | n/a |
12 | chr22:22307197-22307247 | SK-N-SH_RA | brain: | n/a |
13 | chr22:22334553-22334603 | ovcar-3 | ovarian: | n/a |
14 | chr22:22337327-22337377 | ovcar-3 | ovarian: | n/a |
15 | chr22:22337468-22337518 | AG04449 | skin: | fetal |
16 | chr22:22469147-22469197 | BJ | skin: | n/a |
17 | chr22:22469842-22469892 | AG10803 | skin: | n/a |
18 | chr22:22469457-22469507 | GM12878 | blood: | n/a |
19 | chr22:22337468-22337518 | AG09309 | skin: | n/a |
20 | chr22:22337171-22337221 | GM12891 | blood: | n/a |
21 | chr22:22337141-22337191 | H1-hESC | embryonic stem cell: | embryo |
22 | chr22:22471216-22471266 | IMR90 | lung: | fetal |
23 | chr22:22380100-22380150 | PANC-1 | pancreas: | n/a |
24 | chr22:22380100-22380150 | BE2_C | brain: | n/a |
25 | chr22:22337171-22337221 | SK-N-MC | brain: | n/a |
26 | chr22:22337141-22337191 | NH-A | brain: | n/a |
27 | chr22:22307573-22307623 | NB4 | blood: | n/a |
28 | chr22:22337468-22337518 | HIPEpiC | eye: | n/a |
29 | chr22:22306651-22306701 | SK-N-SH | brain: | n/a |
30 | chr22:22307378-22307428 | NT2-D1 | testis: | n/a |
31 | chr22:22337369-22337419 | HL-60 | blood: | n/a |
32 | chr22:22307482-22307532 | HL-60 | blood: | n/a |
33 | chr22:22337141-22337191 | ProgFib | skin: | n/a |
34 | chr22:22469457-22469507 | GM06990 | blood: | n/a |
35 | chr22:22469873-22469923 | HepG2 | liver: | n/a |
36 | chr22:22472743-22472793 | ProgFib | skin: | n/a |
37 | chr22:22337141-22337191 | PFSK-1 | brain: | n/a |
38 | chr22:22307684-22307734 | ECC-1 | luminal epithelium: | n/a |
39 | chr22:22578641-22578691 | BJ | skin: | n/a |
40 | chr22:22337034-22337084 | HPAEpiC | pulmonary alveolar: | n/a |
41 | chr22:22309769-22309819 | Jurkat | blood: | n/a |
42 | chr22:22380839-22380889 | PFSK-1 | brain: | n/a |
43 | chr22:22337374-22337424 | PFSK-1 | brain: | n/a |
44 | chr22:22337374-22337424 | NHDF-neo | bronchial: | n/a |
45 | chr22:22473142-22473192 | AG04449 | skin: | fetal |
46 | chr22:22577791-22577841 | AG09319 | gingival: | n/a |
47 | chr22:22473142-22473192 | HRE | kidney: | n/a |
48 | chr22:22337322-22337372 | HRCEpiC | kidney: | n/a |
49 | chr22:22307378-22307428 | BJ | skin: | n/a |
50 | chr22:22309769-22309819 | T-47D | breast: | n/a |
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr22:22510846..22511784-chr22:22549573..22550389,4 | K562 | blood: | |
2 | chr22:22489016..22491119-chr22:22494831..22496666,3 | K562 | blood: | |
3 | chr22:22464501..22467020-chr22:22512614..22514825,2 | K562 | blood: | |
4 | chr22:22337017..22338693-chr22:22396578..22398430,2 | K562 | blood: | |
5 | chr22:22536019..22537751-chr22:22539522..22542206,2 | K562 | blood: | |
6 | chr22:22414930..22415642-chr22:22457135..22457820,2 | K562 | blood: | |
7 | chr22:22293231..22296069-chr22:22547536..22550098,2 | K562 | blood: | |
8 | chr22:22325561..22328357-chr22:22328801..22330447,2 | MCF-7 | breast: | |
9 | chr22:22570224..22573721-chr22:22578873..22581896,3 | K562 | blood: | |
10 | chr22:22316437..22317944-chr22:22319379..22321751,2 | MCF-7 | breast: | |
11 | chr22:22386520..22389011-chr22:22412787..22415149,2 | K562 | blood: | |
12 | chr22:22291801..22294589-chr22:22413617..22415961,3 | K562 | blood: | |
13 | chr22:22222501..22224527-chr22:22339933..22342358,2 | K562 | blood: | |
14 | chr22:22442185..22444252-chr22:22452104..22454280,2 | K562 | blood: | |
15 | chr22:22505481..22507626-chr22:22554412..22557003,2 | K562 | blood: | |
16 | chr22:22330896..22332952-chr22:22461211..22463335,2 | K562 | blood: | |
17 | chr22:22326670..22328362-chr22:22335678..22338446,2 | MCF-7 | breast: | |
18 | chr22:22375765..22377818-chr22:22402910..22404816,2 | K562 | blood: | |
19 | chr22:22428705..22431367-chr22:22451368..22453204,2 | K562 | blood: | |
20 | chr22:22561885..22562819-chr22:22589742..22590343,3 | K562 | blood: | |
21 | chr22:22292437..22293116-chr22:22510862..22511672,2 | K562 | blood: | |
22 | chr22:22068382..22069327-chr22:22307268..22307847,2 | K562 | blood: | |
23 | chr22:22552562..22555375-chr22:22560814..22563635,2 | K562 | blood: | |
24 | chr22:22510838..22511505-chr22:22815220..22815722,2 | K562 | blood: | |
25 | chr22:22291464..22293326-chr22:22305978..22308201,2 | MCF-7 | breast: | |
26 | chr22:22334819..22337191-chr22:22380662..22382739,3 | K562 | blood: | |
27 | chr22:22384767..22385571-chr22:22498960..22499557,2 | MCF-7 | breast: | |
28 | chr22:22481763..22484672-chr22:22491955..22496259,4 | K562 | blood: | |
29 | chr22:22375857..22378429-chr22:22393243..22394751,2 | MCF-7 | breast: | |
30 | chr22:22504904..22512201-chr22:22531462..22537596,8 | K562 | blood: | |
31 | chr22:22336041..22338165-chr22:22376313..22378331,2 | K562 | blood: | |
32 | chr22:22374034..22376191-chr22:22453668..22456518,2 | K562 | blood: | |
33 | chr22:22549565..22550440-chr22:22560420..22561296,6 | K562 | blood: | |
34 | chr22:22510925..22511680-chr22:22560348..22561277,3 | MCF-7 | breast: | |
35 | chr22:21981288..21984493-chr22:22304068..22306404,3 | K562 | blood: | |
36 | chr22:22558145..22560692-chr22:22571278..22572782,2 | K562 | blood: | |
37 | chr22:22219761..22223642-chr22:22333943..22337946,5 | K562 | blood: | |
38 | chr22:22366731..22370036-chr22:22370345..22377647,6 | K562 | blood: | |
39 | chr22:22290664..22292935-chr22:22346867..22348436,2 | K562 | blood: | |
40 | chr22:22053698..22055287-chr22:22332085..22334698,2 | K562 | blood: | |
41 | chr22:22361366..22363975-chr22:22363999..22367309,3 | K562 | blood: | |
42 | chr22:22516407..22518470-chr22:22563362..22565409,2 | K562 | blood: | |
43 | chr22:22447533..22450239-chr22:22455805..22458376,3 | K562 | blood: | |
44 | chr22:22317246..22319582-chr22:22522243..22523920,2 | K562 | blood: | |
45 | chr22:22435767..22439002-chr22:22464785..22467570,3 | K562 | blood: | |
46 | chr22:22442667..22445545-chr22:22445864..22448371,2 | MCF-7 | breast: | |
47 | chr22:22400946..22402797-chr22:22413673..22416089,2 | MCF-7 | breast: | |
48 | chr22:22384599..22385588-chr22:22525514..22526460,2 | MCF-7 | breast: | |
49 | chr22:22463195..22465288-chr22:22490450..22492354,2 | K562 | blood: | |
50 | chr22:22049140..22051212-chr22:22311066..22313228,2 | K562 | blood: |
(count:39 , 50 per page) page:
1
No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-VPREB1-16 | chr22:22440972-22441017 | NONHSAT083742 |
2 | lnc-VPREB1-24 | chr22:22387300-22387592 | NONHSAT083732 |
3 | lnc-VPREB1-9 | chr22:22522682-22523027 | NONHSAT083752 |
4 | lnc-VPREB1-16 | chr22:22441127-22441521 | NONHSAT083742 |
5 | lnc-VPREB1-13 | chr22:22509975-22510104 | NONHSAT083747 |
6 | lnc-VPREB1-25 | chr22:22380474-22380519 | NONHSAT083731 |
7 | lnc-VPREB1-8 | chr22:22533618-22533867 | NONHSAT083754 |
8 | lnc-VPREB1-13 | chr22:22510010-22510452 | NONHSAT083746 |
9 | lnc-VPREB1-3 | chr22:22574202-22574525 | NONHSAT083760 |
10 | lnc-TOP3B-4 | chr22:22525369-22525942 | NONHSAT083753 |
11 | lnc-VPREB1-24 | chr22:22387143-22387194 | NONHSAT083732 |
12 | lnc-VPREB1-20 | chr22:22415658-22415950 | NONHSAT083738 |
13 | lnc-VPREB1-4 | chr22:22552960-22553004 | NONHSAT083759 |
14 | lnc-TOP3B-1 | chr22:22390346-22390668 | NONHSAT083730 |
15 | lnc-VPREB1-17 | chr22:22434180-22434225 | NONHSAT083741 |
16 | lnc-VPREB1-10 | chr22:22516777-22517099 | NONHSAT083749 |
17 | lnc-VPREB1-23 | chr22:22393197-22393525 | NONHSAT083734 |
18 | lnc-VPREB1-17 | chr22:22434336-22434673 | NONHSAT083741 |
19 | lnc-VPREB1-19 | chr22:22424636-22424681 | NONHSAT083739 |
20 | lnc-VPREB1-20 | chr22:22415489-22415536 | NONHSAT083738 |
21 | lnc-VPREB1-21 | chr22:22412845-22413304 | NONHSAT083737 |
22 | lnc-VPREB1-23 | chr22:22393042-22393087 | NONHSAT083734 |
23 | lnc-VPREB1-2 | chr22:22390743-22390893 | ENSG00000225070.1 |
24 | lnc-TOP3B-1 | chr22:22380099-22380527 | NONHSAT083730 |
25 | lnc-VPREB1-13 | chr22:22510185-22510335 | NONHSAT083747 |
26 | lnc-VPREB1-5 | chr22:22540331-22541009 | NONHSAT083756 |
27 | lnc-VPREB1-15 | chr22:22458835-22459267 | NONHSAT083743 |
28 | lnc-VPREB1-22 | chr22:22398016-22398340 | NONHSAT083735 |
29 | lnc-VPREB1-3 | chr22:22574039-22574081 | NONHSAT083760 |
30 | lnc-VPREB1-6 | chr22:22536972-22537275 | NONHSAT083755 |
31 | lnc-VPREB1-2 | chr22:22393836-22394463 | ENSG00000225070.1 |
32 | lnc-VPREB1-4 | chr22:22553115-22553411 | NONHSAT083759 |
33 | lnc-TOP3B-1 | chr22:22380620-22380720 | NONHSAT083730 |
34 | lnc-VPREB1-15 | chr22:22457629-22458457 | NONHSAT083743 |
35 | lnc-VPREB1-13 | chr22:22478465-22478576 | NONHSAT083746 |
36 | lnc-VPREB1-18 | chr22:22429777-22430077 | NONHSAT083740 |
37 | lnc-VPREB1-19 | chr22:22424805-22425118 | NONHSAT083739 |
38 | lnc-VPREB1-11 | chr22:22511775-22512024 | NONHSAT083748 |
39 | lnc-VPREB1-25 | chr22:22380648-22380991 | NONHSAT083731 |
No data |
No data |
Variant related genes | Relation type |
---|---|
IGLVIV-59 | TF binding region |
IGLVIV-53 | TF binding region |
TOP3B | TF binding region |
IGLV10-54 | TF binding region |
ENSG00000225070 | TF binding region |
ABHD17AP5 | TF binding region |
PRAMENP | TF binding region |
IGLV6-57 | TF binding region |
TOP3BP1 | TF binding region |
IGLV1-62 | TF binding region |
IGLVIV-66-1 | TF binding region |
ENSG00000249333 | TF binding region |
IGLVIV-64 | TF binding region |
BMP6P1 | TF binding region |
ENSG00000225741 | TF binding region |
IGLV11-55 | TF binding region |
IGLV10-67 | TF binding region |
PPM1F | TF binding region |
IGLVI-70 | TF binding region |
IGLVIV-65 | TF binding region |
IGLVI-63 | TF binding region |
IGLV4-60 | TF binding region |
IGLVV-58 | TF binding region |
IGLVI-56 | TF binding region |
IGLV4-69 | TF binding region |
ENSG00000233720 | TF binding region |
ENSG00000236118 | TF binding region |
IGLV8-61 | TF binding region |
ENSG00000228161 | TF binding region |
ENSG00000227710 | TF binding region |
IGLVV-66 | TF binding region |
SOCS2P2 | TF binding region |
IGLVI-68 | TF binding region |
IGLVIV-59 | CpG island |
IGLVIV-53 | CpG island |
TOP3B | CpG island |
IGLV10-54 | CpG island |
ENSG00000225070 | CpG island |
ABHD17AP5 | CpG island |
PRAMENP | CpG island |
IGLV6-57 | CpG island |
TOP3BP1 | CpG island |
IGLV1-62 | CpG island |
IGLVIV-66-1 | CpG island |
ENSG00000249333 | CpG island |
IGLVIV-64 | CpG island |
BMP6P1 | CpG island |
ENSG00000225741 | CpG island |
IGLV11-55 | CpG island |
IGLV10-67 | CpG island |
PPM1F | CpG island |
IGLVI-70 | CpG island |
IGLVIV-65 | CpG island |
IGLVI-63 | CpG island |
IGLV4-60 | CpG island |
IGLVV-58 | CpG island |
IGLVI-56 | CpG island |
IGLV4-69 | CpG island |
ENSG00000233720 | CpG island |
ENSG00000236118 | CpG island |
IGLV8-61 | CpG island |
ENSG00000228161 | CpG island |
ENSG00000227710 | CpG island |
IGLVV-66 | CpG island |
SOCS2P2 | CpG island |
IGLVI-68 | CpG island |
ENSG00000225741 | chromatin interactions |
ENSG00000233720 | chromatin interactions |
ENSG00000161179 | chromatin interactions |
ENSG00000212102 | chromatin interactions |
ENSG00000253823 | chromatin interactions |
ENSG00000211638 | chromatin interactions |
ENSG00000228050 | chromatin interactions |
ENSG00000254161 | chromatin interactions |
ENSG00000254075 | chromatin interactions |
ENSG00000211644 | chromatin interactions |
ENSG00000185686 | chromatin interactions |
ENSG00000253126 | chromatin interactions |
ENSG00000100027 | chromatin interactions |
ENSG00000223461 | chromatin interactions |
ENSG00000111206 | chromatin interactions |
ENSG00000227710 | chromatin interactions |
ENSG00000225070 | chromatin interactions |
ENSG00000070413 | chromatin interactions |
ENSG00000205542 | chromatin interactions |
ENSG00000223350 | chromatin interactions |
ENSG00000182502 | chromatin interactions |
ENSG00000211637 | chromatin interactions |
ENSG00000100038 | chromatin interactions |
ENSG00000253752 | chromatin interactions |
ENSG00000100034 | chromatin interactions |
ENSG00000128228 | chromatin interactions |
ENSG00000220891 | chromatin interactions |
ENSG00000236118 | chromatin interactions |
ENSG00000100030 | chromatin interactions |
ENSG00000236323 | chromatin interactions |
ENSG00000253637 | chromatin interactions |
ENSG00000253935 | chromatin interactions |
ENSG00000228161 | chromatin interactions |
ENSG00000185651 | chromatin interactions |
ENSG00000197549 | chromatin interactions |
ENSG00000224086 | chromatin interactions |
ENSG00000232603 | chromatin interactions |
ENSG00000253874 | chromatin interactions |
ENSG00000254355 | chromatin interactions |
ENSG00000211642 | chromatin interactions |
ENSG00000100023 | chromatin interactions |
ENSG00000211641 | chromatin interactions |
ENSG00000211653 | chromatin interactions |
ENSG00000249333 | chromatin interactions |
ENSG00000211640 | chromatin interactions |
ENSG00000253242 | chromatin interactions |
ENSG00000253239 | chromatin interactions |
ENSG00000272954 | chromatin interactions |
ENSG00000224465 | chromatin interactions |
ENSG00000211648 | chromatin interactions |
ENSG00000254308 | chromatin interactions |
ENSG00000211639 | chromatin interactions |
ENSG00000234726 | chromatin interactions |
ENSG00000253794 | chromatin interactions |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs186690882 | chr22:22306371-22306372 | Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' | Chromatin interactive region | 8 gene(s) | Overlapped CNVs | n/a |
2 | rs565470546 | chr22:22306402-22306403 | Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' | Chromatin interactive region | 9 gene(s) | Overlapped CNVs | n/a |
3 | rs530959032 | chr22:22306406-22306407 | Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' | Chromatin interactive region | 8 gene(s) | Overlapped CNVs | n/a |
4 | rs146423944 | chr22:22306428-22306429 | Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' | Chromatin interactive region | 8 gene(s) | Overlapped CNVs | n/a |
5 | rs561530139 | chr22:22306473-22306474 | Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' | Chromatin interactive region | 8 gene(s) | Overlapped CNVs | n/a |
6 | rs140860604 | chr22:22306482-22306483 | Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' | Chromatin interactive region | 8 gene(s) | Overlapped CNVs | n/a |
7 | rs546597226 | chr22:22306487-22306488 | Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' | Chromatin interactive region | 8 gene(s) | Overlapped CNVs | n/a |
8 | rs566479667 | chr22:22306701-22306702 | Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' | Chromatin interactive region | 7 gene(s) | Overlapped CNVs | n/a |
9 | rs538724587 | chr22:22306729-22306730 | Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' | Chromatin interactive region | 7 gene(s) | Overlapped CNVs | n/a |
10 | rs143285233 | chr22:22306811-22306812 | Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers | Chromatin interactive region | 7 gene(s) | Overlapped CNVs | n/a |
11 | rs146837927 | chr22:22306822-22306823 | Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers | Chromatin interactive region | 7 gene(s) | Overlapped CNVs | n/a |
12 | rs537617381 | chr22:22306864-22306865 | Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers | Chromatin interactive region | 7 gene(s) | Overlapped CNVs | n/a |
13 | rs35229297 | chr22:22306927-22306928 | Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers | Chromatin interactive region | 7 gene(s) | Overlapped CNVs | n/a |
14 | rs554466367 | chr22:22306965-22306966 | Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers | Chromatin interactive region | 7 gene(s) | Overlapped CNVs | n/a |
15 | rs574370340 | chr22:22306979-22306980 | Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers | Chromatin interactive region | 7 gene(s) | Overlapped CNVs | n/a |
16 | rs537644729 | chr22:22307005-22307006 | Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Enhancers | Chromatin interactive region | 7 gene(s) | Overlapped CNVs | n/a |
17 | rs536283365 | chr22:22307076-22307077 | Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Enhancers | Chromatin interactive region | 7 gene(s) | Overlapped CNVs | n/a |
18 | rs62234967 | chr22:22307091-22307092 | Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Enhancers | Chromatin interactive region | 7 gene(s) | Overlapped CNVs | n/a |
19 | rs553325169 | chr22:22307150-22307151 | Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Enhancers | Chromatin interactive region | 7 gene(s) | Overlapped CNVs | n/a |
20 | rs547336608 | chr22:22307151-22307152 | Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Enhancers | Chromatin interactive region | 7 gene(s) | Overlapped CNVs | n/a |
21 | rs191164907 | chr22:22307166-22307167 | Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Enhancers | Chromatin interactive region | 7 gene(s) | Overlapped CNVs | n/a |
22 | rs565192320 | chr22:22307180-22307181 | Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Enhancers | Chromatin interactive region | 7 gene(s) | Overlapped CNVs | n/a |
23 | rs575924441 | chr22:22307225-22307226 | Bivalent/Poised TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive region | 8 gene(s) | Overlapped CNVs | n/a |
24 | rs544786963 | chr22:22307253-22307254 | Bivalent/Poised TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' | TF binding regionChromatin interactive region | 8 gene(s) | Overlapped CNVs | n/a |
25 | rs374812940 | chr22:22307254-22307255 | Bivalent/Poised TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' | TF binding regionChromatin interactive region | 8 gene(s) | Overlapped CNVs | n/a |
26 | rs556830445 | chr22:22307262-22307263 | Bivalent/Poised TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' | TF binding regionChromatin interactive region | 8 gene(s) | Overlapped CNVs | n/a |
27 | rs561595488 | chr22:22307305-22307306 | Bivalent/Poised TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' | TF binding regionChromatin interactive region | 8 gene(s) | Overlapped CNVs | n/a |
28 | rs530402007 | chr22:22307357-22307358 | Bivalent/Poised TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' | TF binding regionChromatin interactive region | 8 gene(s) | Overlapped CNVs | n/a |
29 | rs875344 | chr22:22307381-22307382 | Bivalent/Poised TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive region | 8 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
30 | rs183547716 | chr22:22307416-22307417 | Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription | TF binding regionCpG islandChromatin interactive region | 8 gene(s) | Overlapped CNVs | n/a |
31 | rs531972114 | chr22:22307418-22307419 | Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription | TF binding regionCpG islandChromatin interactive region | 8 gene(s) | Overlapped CNVs | n/a |
32 | rs552266280 | chr22:22307434-22307435 | Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription | TF binding regionCpG islandChromatin interactive region | 8 gene(s) | Overlapped CNVs | n/a |
33 | rs412050 | chr22:22307519-22307520 | Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription | TF binding regionCpG islandChromatin interactive region | 8 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundancedisease |
34 | rs531432850 | chr22:22307603-22307604 | Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription | TF binding regionCpG islandChromatin interactive region | 8 gene(s) | Overlapped CNVs | n/a |
35 | rs150464856 | chr22:22307605-22307606 | Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription | TF binding regionCpG islandChromatin interactive region | 8 gene(s) | Overlapped CNVs | n/a |
36 | rs547969176 | chr22:22307610-22307611 | Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription | TF binding regionCpG islandChromatin interactive region | 8 gene(s) | Overlapped CNVs | n/a |
37 | rs542548724 | chr22:22307630-22307631 | Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription | TF binding regionChromatin interactive region | 8 gene(s) | Overlapped CNVs | n/a |
38 | rs568057238 | chr22:22307638-22307639 | Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription | TF binding regionChromatin interactive region | 8 gene(s) | Overlapped CNVs | n/a |
39 | rs111323078 | chr22:22307648-22307649 | Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription | TF binding regionChromatin interactive region | 8 gene(s) | Overlapped CNVs | n/a |
40 | rs533829090 | chr22:22307729-22307730 | Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription | TF binding regionCpG islandChromatin interactive region | 8 gene(s) | Overlapped CNVs | n/a |
41 | rs57020471 | chr22:22307730-22307731 | Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription | TF binding regionCpG islandChromatin interactive region | 8 gene(s) | Overlapped CNVs | n/a |
42 | rs553734310 | chr22:22307924-22307925 | Weak transcription ZNF genes & repeats Enhancers | TF binding regionChromatin interactive region | 8 gene(s) | Overlapped CNVs | n/a |
43 | rs202068764 | chr22:22307979-22307980 | Weak transcription ZNF genes & repeats Enhancers | TF binding regionChromatin interactive region | 7 gene(s) | Overlapped CNVs | n/a |
44 | rs146963120 | chr22:22307980-22307981 | Weak transcription ZNF genes & repeats Enhancers | TF binding regionChromatin interactive region | 7 gene(s) | Overlapped CNVs | n/a |
45 | rs6000278 | chr22:22307994-22307995 | Weak transcription ZNF genes & repeats Enhancers | TF binding regionChromatin interactive region | 7 gene(s) | Overlapped CNVs | n/a |
46 | rs201405561 | chr22:22307995-22307996 | Weak transcription ZNF genes & repeats Enhancers | TF binding regionChromatin interactive region | 7 gene(s) | Overlapped CNVs | n/a |
47 | rs34555250 | chr22:22307996-22307997 | Weak transcription ZNF genes & repeats Enhancers | TF binding regionChromatin interactive region | 7 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
48 | rs76244782 | chr22:22307997-22307998 | Weak transcription ZNF genes & repeats Enhancers | TF binding regionChromatin interactive region | 7 gene(s) | Overlapped CNVs | n/a |
49 | rs559031252 | chr22:22308009-22308010 | Weak transcription Enhancers | TF binding regionChromatin interactive region | 7 gene(s) | Overlapped CNVs | n/a |
50 | rs575785243 | chr22:22308028-22308029 | Weak transcription Enhancers | TF binding regionChromatin interactive region | 7 gene(s) | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Hodgkin''s lymphoma | 18641027 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Velocardiofacial syndrome | 20111667 | CNVD |
Medulloblastoma | 21979893 | CNVD |
sporadic solitary meningiomas | 19589153 | CNVD |
Myofibroblastic sarcoma | 19369631 | CNVD |
Autism | 22495311 | CNVD |
Lung cancer | 18438408 | CNVD |
Emanuel syndrome | 21549014 | CNVD |
Digeorge syndrome | 22283845 | CNVD |
Schizophrenia | 17504246 | CNVD |
Digeorge syndrome | 18033723 | CNVD |
22q11 deletion syndrome | 17034021 | CNVD |
22q11 deletion syndrome | 22511897 | CNVD |
22q11 deletion syndrome | 16829213 | CNVD |
Autism | 22067053 | CNVD |
Autism | 19218893 | CNVD |
Biliary cancer | 22067053 | CNVD |
Congenital heart defect | 21390462 | CNVD |
Digeorge syndrome | 16617304 | CNVD |
Emanuel syndrome | 18184694 | CNVD |
Non-syndromic sensorineural hearing loss | 18184694 | CNVD |
Obsessive-compulsive disorder | 22067053 | CNVD |
Psychosis | 22067053 | CNVD |
Schizophrenia | 19415332 | CNVD |
Schizophrenia | 20587603 | CNVD |
Shprintzen syndrome | 19443537 | CNVD |
absent pulmonary valve syndrome | 16795129 | CNVD |
language delay | 22067053 | CNVD |
periventricular nodular heterotopia | 20648244 | CNVD |
renal disease | 17924346 | CNVD |
Schizophrenia | 20433910 | CNVD |
22q11 deletion syndrome | 17028864 | CNVD |
Schizophrenia | 16969581 | CNVD |
Non-syndromic sensorineural hearing loss | 17135275 | CNVD |
velo-cardio-facial syndrome | 17135275 | CNVD |
Digeorge syndrome | 18787571 | CNVD |
Autism | 18925931 | CNVD |
Non-small cell lung cancer | 21829676 | CNVD |
22q11.2 microdeletion syndrome | 21547621 | CNVD |
Congenital heart defect | 21308838 | CNVD |
Digeorge syndrome | 16512914 | CNVD |
Digeorge syndrome | 20954168 | CNVD |
Nuchal translucency | 21837766 | CNVD |
Right aortic arch in the fetus | 17066500 | CNVD |
Shprintzen syndrome | 17117043 | CNVD |
Tetralogy of fallot | 17405110 | CNVD |
Velocardiofacial syndrome | 20140301 | CNVD |
Velocardiofacial syndrome | 16512914 | CNVD |
bone mass and metabolism | 20516202 | CNVD |
choanal atresia | 18209138 | CNVD |
extracardiac malformations | 17086578 | CNVD |
fetal heart defects | 21308838 | CNVD |
parathyroid gland dysfunction | 16793949 | CNVD |
prenatal diagnosis | 20453657 | CNVD |
velopharyngeal insufficiency | 19620585 | CNVD |
Prader-willi syndrome | 20942916 | CNVD |
22q11 deletion syndrome | 17653112 | CNVD |
Chronic myelomonocytic leukemia | 16760666 | CNVD |
Non-syndromic sensorineural hearing loss | 16829213 | CNVD |
Non-syndromic sensorineural hearing loss | 16760666 | CNVD |
Chordoma | 21602918 | CNVD |
Cancer | 21637783 | CNVD |
Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
Splenic marginal zone lymphoma | 21957467 | CNVD |
Congenital heart defect | 22511896 | CNVD |
Breast cancer | 17603634 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Burkitt''s lymphoma | 18698080 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Astrocytoma | 17387387 | CNVD |
Breast cancer | 21264507 | CNVD |
Glioblastoma multiforme | 17387387 | CNVD |
Seminomas | 18059402 | CNVD |
Cancer | 16751803 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Metachromatic leukodystrophy | 18421352 | CNVD |
Basal cell lymphoma | 17170743 | CNVD |
Gastrointestinal stromal cancer | 19259404 | CNVD |
Gastrointestinal stromal cancer | 20470368 | CNVD |
Gastrointestinal stromal cancer | 17535989 | CNVD |
Paraganglioma | 17535989 | CNVD |
Pulmonary chondroma | 17535989 | CNVD |
Breast cancer | 21858162 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Myelodysplastic syndrome | 21251322 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Breast cancer | 21509527 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Prostate cancer | 18632612 | CNVD |
Cat eye syndrome | 21549014 | CNVD |
Digeorge syndrome | 21549014 | CNVD |
22q11.2 microdeletion syndrome | 22051516 | CNVD |
22q11.2 microdeletion syndrome | 18483005 | CNVD |
22q11.2 microdeletion syndrome | 19565140 | CNVD |
22q11.2 microdeletion syndrome | 20396437 | CNVD |
22q11.2 microdeletion syndrome | 21390462 | CNVD |
22q11.2 microdeletion syndrome | 21573985 | CNVD |
Austim spectrum disorder | 21302340 | CNVD |
Autism | 20970697 | CNVD |
Bipolar disorder | 19114987 | CNVD |
Congenital heart defect | 21257016 | CNVD |
Developmental delay | 18414209 | CNVD |
DiGeorge-Velo cardiofacial | 19284877 | CNVD |
Epilepsy | 20970697 | CNVD |
Heart disease | 20551144 | CNVD |
Hughes'' syndrome | 16595601 | CNVD |
Mental retardation | 18414209 | CNVD |
Okamoto syndrome | 19046188 | CNVD |
Primary immunodeficiency | 22566803 | CNVD |
Schizophrenia | 20877625 | CNVD |
Schizophrenia | 20553308 | CNVD |
Schizophrenia | 21956041 | CNVD |
Schizophrenia | 20970697 | CNVD |
Tetralogy of Fallot | 22912587 | CNVD |
Velocardiofacial syndrome | 17556857 | CNVD |
Velocardiofacial syndrome | 20206275 | CNVD |
Velocardiofacial syndrome | 20970697 | CNVD |
delayed speech development | 21274400 | CNVD |
velo-cardio-facial syndrome | 16511839 | CNVD |
velo-cardio-facial syndrome | 21763005 | CNVD |
22q11.2 microdeletion syndrome | 18799940 | CNVD |
Digeorge syndrome | 20877625 | CNVD |
22q11.2 microdeletion syndrome | 18923514 | CNVD |
Congenital heart defect | 22185286 | CNVD |
DiGeorge-Velo cardiofacial | 16773131 | CNVD |
Digeorge syndrome | 20186050 | CNVD |
velo-cardio-facial conotruncal-face syndrome | 20186050 | CNVD |
22q11.2 microdeletion syndrome | 22116936 | CNVD |
Disorders of sex development | 22290220 | CNVD |
22q11.2 duplication syndrome | 18923514 | CNVD |
Autism | 22095694 | CNVD |
Mental retardation | 19951919 | CNVD |
Honadal dysgenesis | 21048976 | CNVD |
Mental retardation | 16773131 | CNVD |
22q11.2 microdeletion syndrome | 22395003 | CNVD |
22q11.2 microdeletion syndrome | 18691436 | CNVD |
22q11.2 microdeletion syndrome | 18053182 | CNVD |
22q11.2 microdeletion syndrome | 18324686 | CNVD |
22q11.2 microdeletion syndrome | 20074913 | CNVD |
Congenital heart defect | 20802965 | CNVD |
Congenital heart defect | 21134246 | CNVD |
DiGeorge syndrome | 19040613 | CNVD |
DiGeorge-Velo cardiofacial | 18179902 | CNVD |
Digeorge syndrome | 18172682 | CNVD |
Digeorge syndrome | 22470819 | CNVD |
Digeorge syndrome | 21364285 | CNVD |
Neuroendocrine carcinoma | 22470819 | CNVD |
Non-syndromic sensorineural hearing loss | 20069674 | CNVD |
Smith-Magenis syndrome | 18301319 | CNVD |
Tetralogy of fallot | 19144126 | CNVD |
Velo-cardio-facial syndrome | 21364285 | CNVD |
Velocardiofacial syndrome | 18788013 | CNVD |
cardiac malformation | 20573211 | CNVD |
cardiac malformation | 18172682 | CNVD |
velo-cardio-facial syndrome | 18636631 | CNVD |
Schizophrenia | 21822266 | CNVD |
synaptic plasticity | 21368174 | CNVD |
Schizophrenia | 18043741 | CNVD |
sporadic birth defects | 19047251 | CNVD |
Autism | 19046189 | CNVD |
DiGeorge-Velo cardiofacial | 19047251 | CNVD |
Hypernasal speech | 21968682 | CNVD |
Mental retardation | 17339581 | CNVD |
diverse phenotype | 16760730 | CNVD |
Mental retardation | 20152051 | CNVD |
Breast cancer | 16608533 | CNVD |
Melanoma | 18172304 | CNVD |
Ovarian cancer | 22174824 | CNVD |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
Wilms tumour | 21544195 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
DiGeorge-Velo cardiofacial | 17597781 | CNVD |
Digeorge syndrome | 17576883 | CNVD |
Schizophrenia | 18806272 | CNVD |
Schizophrenia | 18990708 | CNVD |
Velocardiofacial syndrome | 17576883 | CNVD |
Schizophrenia | 20075378 | CNVD |
Neurodevelopmental disorder | 17015230 | CNVD |
Neuropsychiatric disorder | 20069037 | CNVD |
Williams-beuren syndrome | 18553513 | CNVD |
Emphysema | 19352772 | CNVD |
Cancer | 17440070 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Disease | 21346257 | CNVD |
Breast cancer | 20668451 | CNVD |
Cancer | 20668451 | CNVD |
Lung cancer | 20668451 | CNVD |
Ovarian cancer | 20668451 | CNVD |
Pancreas cancer | 20668451 | CNVD |
Prostate cancer | 20668451 | CNVD |
Developmental delay | 21147756 | CNVD |
low-grade B-cell lymphoma tumor | 18367492 | CNVD |
Gastrointestinal stromal cancer | 20877625 | CNVD |
Cutaneous T-cell lymphoma | 21881587 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Asthma | 21956041 | CNVD |
Glioblastoma multiforme | 22286061 | CNVD |
Colorectal cancer | 21128281 | CNVD |
Systemic lupus erythematosus | 21956041 | CNVD |
Primary central nervous system lymphoma | 21088137 | CNVD |
22q11.23 microdeletion syndrome | 19193630 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Acute lymphoblastic leukemia | 21248843 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Chronic myeloid leukemia | 21384125 | CNVD |
Autism | 20841430 | CNVD |
Breast cancer | 22522925 | CNVD |
Cancer | 20164919 | CNVD |
Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
Non-syndromic sensorineural hearing loss | 19587683 | CNVD |
Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Malignant rhabdoid rumor | 20824076 | CNVD |
Glioma | 20126413 | CNVD |
Multiple myeloma | 17550852 | CNVD |
Breast cancer | 21785460 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr22:22293000-22306400 | Weak transcription | Small Intestine | intestine |
2 | chr22:22300200-22306400 | Weak transcription | H9 Cell Line | embryonic stem cell |
3 | chr22:22300400-22306400 | Weak transcription | Thymus | Thymus |
4 | chr22:22303600-22306800 | Flanking Active TSS | Primary neutrophils fromperipheralblood | blood |
5 | chr22:22305400-22306400 | Transcr. at gene 5' and 3' | Primary hematopoietic stem cells short term culture | blood |
6 | chr22:22305400-22306400 | Enhancers | Spleen | Spleen |
7 | chr22:22305400-22306400 | Flanking Active TSS | HUVEC | blood vessel |
8 | chr22:22305400-22306800 | Flanking Active TSS | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
9 | chr22:22305400-22307200 | Flanking Active TSS | Monocytes-CD14+_RO01746 | blood |
10 | chr22:22305600-22307400 | Flanking Active TSS | Primary hematopoietic stem cells G-CSF-mobilized Female | -- |
11 | chr22:22305800-22306400 | Transcr. at gene 5' and 3' | HSMM | muscle |
12 | chr22:22306000-22306400 | Enhancers | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
13 | chr22:22306000-22306400 | Flanking Active TSS | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
14 | chr22:22306000-22306400 | Flanking Active TSS | Breast Myoepithelial Primary Cells | Breast |
15 | chr22:22306000-22306400 | Flanking Active TSS | Primary T cells from cord blood | blood |
16 | chr22:22306000-22306400 | Enhancers | Primary T helper memory cells from peripheral blood 2 | blood |
17 | chr22:22306000-22306400 | Enhancers | Primary T helper memory cells from peripheral blood 1 | blood |
18 | chr22:22306000-22306400 | Enhancers | Primary T helper 17 cells PMA-I stimulated | -- |
19 | chr22:22306000-22306400 | Enhancers | Primary T cells effector/memory enriched fromperipheralblood | blood |
20 | chr22:22306000-22306400 | Flanking Active TSS | Muscle Satellite Cultured Cells | -- |
21 | chr22:22306000-22306400 | Flanking Active TSS | Foreskin Keratinocyte Primary Cells skin02 | Skin |
22 | chr22:22306000-22306400 | Active TSS | Brain Substantia Nigra | brain |
23 | chr22:22306000-22306400 | Flanking Active TSS | Colon Smooth Muscle | Colon |
24 | chr22:22306000-22306400 | Flanking Active TSS | Duodenum Smooth Muscle | Duodenum |
25 | chr22:22306000-22306400 | Enhancers | Fetal Heart | heart |
26 | chr22:22306000-22306400 | Flanking Active TSS | Fetal Lung | lung |
27 | chr22:22306000-22306400 | Enhancers | Placenta Amnion | Placenta Amnion |
28 | chr22:22306000-22306400 | Enhancers | Stomach Mucosa | stomach |
29 | chr22:22306000-22306400 | Flanking Active TSS | HepG2 | liver |
30 | chr22:22306000-22306400 | Flanking Active TSS | NHDF-Ad | bronchial |
31 | chr22:22306000-22306600 | Flanking Active TSS | H9 Derived Neuron Cultured Cells | ES cell derived |
32 | chr22:22306000-22306600 | Flanking Active TSS | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
33 | chr22:22306000-22306600 | Flanking Active TSS | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
34 | chr22:22306000-22306600 | Flanking Active TSS | Primary T helper naive cells from peripheral blood | blood |
35 | chr22:22306000-22306600 | Flanking Active TSS | Foreskin Keratinocyte Primary Cells skin03 | Skin |
36 | chr22:22306000-22306600 | Transcr. at gene 5' and 3' | Fetal Muscle Leg | muscle |
37 | chr22:22306000-22306600 | Flanking Active TSS | Lung | lung |
38 | chr22:22306000-22306600 | Flanking Active TSS | Rectal Smooth Muscle | rectum |
39 | chr22:22306000-22306600 | Transcr. at gene 5' and 3' | K562 | blood |
40 | chr22:22306000-22306600 | Flanking Active TSS | Osteobl | bone |
41 | chr22:22306000-22306800 | Flanking Active TSS | Primary monocytes fromperipheralblood | blood |
42 | chr22:22306000-22306800 | Flanking Active TSS | Primary hematopoietic stem cells | blood |
43 | chr22:22306000-22306800 | Flanking Active TSS | Primary T helper cells fromperipheralblood | blood |
44 | chr22:22306000-22306800 | Flanking Active TSS | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
45 | chr22:22306000-22306800 | Flanking Active TSS | Ganglion Eminence derived primary cultured neurospheres | brain |
46 | chr22:22306000-22306800 | Flanking Active TSS | Foreskin Fibroblast Primary Cells skin01 | Skin |
47 | chr22:22306000-22306800 | Flanking Active TSS | Foreskin Fibroblast Primary Cells skin02 | Skin |
48 | chr22:22306000-22306800 | Flanking Active TSS | Adipose Nuclei | Adipose |
49 | chr22:22306000-22306800 | Flanking Active TSS | Liver | Liver |
50 | chr22:22306000-22306800 | Flanking Active TSS | Brain Angular Gyrus | brain |