Variant report
Variant | nsv1063053 |
---|---|
Chromosome Location | chr22:22313127-22702018 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:8819)
- CpG islands (count:2749)
- Chromatin interactive region (count:455)
- LncRNA region (count:85)
- 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 | chr22:22457409-22457646 | K562 | blood: | n/a | n/a |
2 | ARID3A | chr22:22355812-22356985 | K562 | blood: | n/a | n/a |
3 | ARID3A | chr22:22477001-22477277 | 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 | chr22:22337105-22337394 | HepG2 | liver: | n/a | n/a |
7 | ARID3A | chr22:22415118-22415318 | HepG2 | liver: | n/a | n/a |
8 | ARID3A | chr22:22339268-22339597 | K562 | blood: | n/a | n/a |
9 | ARID3A | chr22:22442521-22442964 | HepG2 | liver: | n/a | n/a |
10 | ARID3A | chr22:22378057-22378223 | K562 | blood: | n/a | n/a |
11 | ARID3A | chr22:22697385-22697387 | K562 | blood: | n/a | n/a |
12 | ARID3A | chr22:22415037-22415189 | K562 | blood: | n/a | n/a |
13 | ARID3A | chr22:22465810-22466041 | K562 | blood: | n/a | n/a |
14 | ARID3A | chr22:22510976-22511458 | K562 | blood: | n/a | n/a |
15 | ARID3A | chr22:22384968-22385236 | K562 | blood: | n/a | n/a |
16 | ARID3A | chr22:22564820-22564910 | K562 | blood: | n/a | n/a |
17 | ARID3A | chr22:22468023-22468176 | K562 | blood: | n/a | n/a |
18 | ARID3A | chr22:22337039-22337516 | K562 | blood: | n/a | n/a |
19 | ARID3A | chr22:22415907-22416441 | HepG2 | liver: | n/a | n/a |
20 | ARID3A | chr22:22463869-22465524 | K562 | blood: | n/a | n/a |
21 | ARID3A | chr22:22549750-22550101 | K562 | blood: | n/a | n/a |
22 | ARID3A | chr22:22652155-22652317 | HepG2 | liver: | n/a | n/a |
23 | ARID3A | chr22:22392224-22392534 | K562 | blood: | n/a | n/a |
24 | ARID3A | chr22:22560720-22560804 | HepG2 | liver: | n/a | n/a |
25 | ATF1 | chr22:22475770-22475855 | K562 | blood: | n/a | n/a |
26 | ATF1 | chr22:22424538-22424979 | K562 | blood: | n/a | n/a |
27 | ATF1 | chr22:22676475-22676643 | K562 | blood: | n/a | n/a |
28 | ATF1 | chr22:22378052-22378257 | K562 | blood: | n/a | n/a |
29 | ATF1 | chr22:22367936-22368085 | K562 | blood: | n/a | n/a |
30 | ATF1 | chr22:22522930-22523217 | K562 | blood: | n/a | n/a |
31 | ATF1 | chr22:22417546-22417837 | K562 | blood: | n/a | n/a |
32 | ATF1 | chr22:22416087-22416336 | K562 | blood: | n/a | n/a |
33 | ATF1 | chr22:22356266-22356718 | K562 | blood: | n/a | n/a |
34 | ATF1 | chr22:22443522-22443568 | K562 | blood: | n/a | n/a |
35 | ATF1 | chr22:22511153-22511471 | K562 | blood: | n/a | n/a |
36 | ATF1 | chr22:22693003-22693116 | K562 | blood: | n/a | n/a |
37 | ATF1 | chr22:22369120-22369190 | K562 | blood: | n/a | n/a |
38 | ATF1 | chr22:22564831-22565179 | K562 | blood: | n/a | n/a |
39 | ATF1 | chr22:22617203-22617304 | K562 | blood: | n/a | n/a |
40 | ATF1 | chr22:22387947-22388240 | K562 | blood: | n/a | n/a |
41 | ATF1 | chr22:22503937-22503949 | K562 | blood: | n/a | n/a |
42 | ATF1 | chr22:22392194-22392539 | K562 | blood: | n/a | n/a |
43 | ATF1 | chr22:22512634-22512947 | K562 | blood: | n/a | n/a |
44 | ATF1 | chr22:22360525-22360873 | K562 | blood: | n/a | n/a |
45 | ATF1 | chr22:22372503-22372604 | K562 | blood: | n/a | n/a |
46 | ATF2 | chr22:22465320-22465759 | GM12878 | blood: | n/a | n/a |
47 | ATF2 | chr22:22522113-22522443 | GM12878 | blood: | n/a | n/a |
48 | ATF2 | chr22:22337046-22337443 | GM12878 | blood: | n/a | n/a |
49 | ATF2 | chr22:22549799-22550171 | GM12878 | blood: | n/a | n/a |
50 | ATF2 | chr22:22384775-22385741 | GM12878 | blood: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr22:22469457-22469507 | NHDF-neo | bronchial: | n/a |
2 | chr22:22334553-22334603 | HNPCEpiC | eye: | n/a |
3 | chr22:22652529-22652579 | IMR90 | lung: | fetal |
4 | chr22:22652529-22652579 | Hepatocyte | liver: | n/a |
5 | chr22:22469457-22469507 | NHDF-neo | bronchial: | n/a |
6 | chr22:22334553-22334603 | HNPCEpiC | eye: | n/a |
7 | chr22:22652529-22652579 | IMR90 | lung: | fetal |
8 | chr22:22652529-22652579 | Hepatocyte | liver: | n/a |
9 | chr22:22315643-22315693 | U87 | brain: | n/a |
10 | chr22:22315643-22315693 | HCT-116 | colon: | n/a |
11 | chr22:22336396-22336446 | PFSK-1 | brain: | n/a |
12 | chr22:22469842-22469892 | HNPCEpiC | eye: | n/a |
13 | chr22:22337141-22337191 | SK-N-MC | brain: | n/a |
14 | chr22:22472743-22472793 | HMEC | breast: | n/a |
15 | chr22:22334553-22334603 | ECC-1 | luminal epithelium: | n/a |
16 | chr22:22473142-22473192 | PFSK-1 | brain: | n/a |
17 | chr22:22380100-22380150 | A549 | lung: | n/a |
18 | chr22:22469147-22469197 | NHDF-neo | bronchial: | n/a |
19 | chr22:22472743-22472793 | SK-N-SH_RA | brain: | n/a |
20 | chr22:22336396-22336446 | HNPCEpiC | eye: | n/a |
21 | chr22:22469842-22469892 | MCF-7 | breast: | n/a |
22 | chr22:22469457-22469507 | H1-hESC | embryonic stem cell: | embryo |
23 | chr22:22597965-22598015 | HCPEpiC | choroid plexus: | n/a |
24 | chr22:22469842-22469892 | HRCEpiC | kidney: | n/a |
25 | chr22:22337034-22337084 | HRPEpiC | eye: | n/a |
26 | chr22:22472384-22472434 | A549 | lung: | n/a |
27 | chr22:22337141-22337191 | HL-60 | blood: | n/a |
28 | chr22:22469147-22469197 | HIPEpiC | eye: | n/a |
29 | chr22:22339538-22339588 | GM12892 | blood: | n/a |
30 | chr22:22652334-22652384 | Caco-2 | colon: | n/a |
31 | chr22:22599332-22599382 | HAEpiC | amniotic membrane: | n/a |
32 | chr22:22471930-22471980 | AG10803 | skin: | n/a |
33 | chr22:22577791-22577841 | HRE | kidney: | n/a |
34 | chr22:22471930-22471980 | HCPEpiC | choroid plexus: | n/a |
35 | chr22:22471216-22471266 | IMR90 | lung: | fetal |
36 | chr22:22599189-22599239 | MCF10A-Er-Src | breast: | n/a |
37 | chr22:22471930-22471980 | MCF10A-Er-Src | breast: | n/a |
38 | chr22:22337374-22337424 | IMR90 | lung: | fetal |
39 | chr22:22597965-22598015 | GM12891 | blood: | n/a |
40 | chr22:22599128-22599178 | MCF10A-Er-Src | breast: | n/a |
41 | chr22:22652334-22652384 | SK-N-MC | brain: | n/a |
42 | chr22:22337171-22337221 | Hepatocyte | liver: | n/a |
43 | chr22:22577791-22577841 | AG04449 | skin: | fetal |
44 | chr22:22581186-22581236 | AG09319 | gingival: | n/a |
45 | chr22:22337034-22337084 | AG09309 | skin: | n/a |
46 | chr22:22599332-22599382 | HCPEpiC | choroid plexus: | n/a |
47 | chr22:22597965-22598015 | GM12878 | blood: | n/a |
48 | chr22:22380100-22380150 | Jurkat | blood: | n/a |
49 | chr22:22336396-22336446 | Hela-S3 | cervix: | n/a |
50 | chr22:22652040-22652090 | HepG2 | liver: | n/a |
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr22:22551049..22553933-chr22:22583421..22585110,2 | K562 | blood: | |
2 | chr22:22442185..22444252-chr22:22452104..22454280,2 | K562 | blood: | |
3 | chr22:22326614..22327292-chr22:22465022..22465865,2 | K562 | blood: | |
4 | chr22:22412399..22413100-chr22:22428586..22429560,2 | K562 | blood: | |
5 | chr22:22429953..22432769-chr22:22463306..22465226,2 | K562 | blood: | |
6 | chr22:22465010..22465979-chr22:22549552..22550401,2 | K562 | blood: | |
7 | chr22:22384599..22385588-chr22:22525514..22526460,2 | MCF-7 | breast: | |
8 | chr22:22068976..22070805-chr22:22338625..22340951,2 | K562 | blood: | |
9 | chr22:22498442..22500496-chr22:22731566..22734010,2 | K562 | blood: | |
10 | chr22:22522987..22526485-chr22:22538935..22541794,3 | K562 | blood: | |
11 | chr22:22516407..22518470-chr22:22563362..22565409,2 | K562 | blood: | |
12 | chr22:22347136..22348926-chr22:22374935..22377232,2 | K562 | blood: | |
13 | chr22:22460350..22462658-chr22:22476870..22479125,2 | K562 | blood: | |
14 | chr22:22594800..22597091-chr22:22601427..22603687,2 | MCF-7 | breast: | |
15 | chr22:22414688..22415532-chr22:22555572..22556261,2 | K562 | blood: | |
16 | chr22:22695766..22698684-chr22:22700906..22703553,2 | MCF-7 | breast: | |
17 | chr22:22384767..22385571-chr22:22498960..22499557,2 | MCF-7 | breast: | |
18 | chr22:22452652..22456548-chr22:22456730..22459011,3 | K562 | blood: | |
19 | chr22:22488951..22490543-chr22:22494875..22497145,2 | K562 | blood: | |
20 | chr22:22669126..22673258-chr22:22674824..22678018,4 | K562 | blood: | |
21 | chr22:22414688..22415532-chr22:22555572..22556261,2 | K562 | blood: | |
22 | chr22:22384592..22385274-chr22:22415858..22416368,2 | MCF-7 | breast: | |
23 | chr22:22539678..22540642-chr22:22549415..22549932,2 | K562 | blood: | |
24 | chr22:22338933..22339882-chr22:22510840..22511767,5 | K562 | blood: | |
25 | chr22:22454359..22457112-chr22:22476351..22478541,2 | K562 | blood: | |
26 | chr22:22561443..22563437-chr22:22676108..22676993,10 | MCF-7 | breast: | |
27 | chr22:22331326..22332844-chr22:22424679..22426503,2 | K562 | blood: | |
28 | chr22:22558145..22560692-chr22:22571278..22572782,2 | K562 | blood: | |
29 | chr22:22326562..22327268-chr22:22335793..22337003,3 | K562 | blood: | |
30 | chr22:22561298..22563780-chr22:22564215..22567147,2 | MCF-7 | breast: | |
31 | chr22:22415114..22415637-chr22:22424139..22425080,2 | K562 | blood: | |
32 | chr22:22374309..22381412-chr22:22382617..22388431,10 | K562 | blood: | |
33 | chr22:22442667..22445545-chr22:22445864..22448371,2 | MCF-7 | breast: | |
34 | chr22:22562037..22562877-chr22:22901557..22902139,2 | K562 | blood: | |
35 | chr22:22301565..22302189-chr22:22326385..22327307,2 | K562 | blood: | |
36 | chr22:22402070..22403893-chr22:22412853..22414786,3 | K562 | blood: | |
37 | chr22:22511255..22511788-chr22:22522548..22523132,2 | K562 | blood: | |
38 | chr22:22414710..22416472-chr22:22519132..22521067,2 | K562 | blood: | |
39 | chr22:22383341..22384076-chr22:22724114..22725041,2 | K562 | blood: | |
40 | chr22:22301568..22303769-chr22:22443867..22445458,2 | K562 | blood: | |
41 | chr22:22693741..22696276-chr22:22705847..22707625,2 | K562 | blood: | |
42 | chr22:22303827..22304626-chr22:22326823..22327382,2 | K562 | blood: | |
43 | chr22:22525890..22526943-chr22:22549598..22550494,4 | MCF-7 | breast: | |
44 | chr22:22481160..22483174-chr22:22484902..22487918,3 | K562 | blood: | |
45 | chr22:22382229..22384424-chr22:22386335..22388314,3 | K562 | blood: | |
46 | chr22:22356806..22358969-chr22:22360962..22362810,2 | K562 | blood: | |
47 | chr22:22561796..22562984-chr22:22589689..22590288,3 | MCF-7 | breast: | |
48 | chr22:22292610..22297899-chr22:22316736..22322432,6 | K562 | blood: | |
49 | chr22:22362155..22364239-chr22:22419402..22421646,2 | K562 | blood: | |
50 | chr22:22316437..22317944-chr22:22319379..22321751,2 | MCF-7 | breast: |
No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-VPREB1-7 | chr22:22662628-22663184 | NONHSAT083770 |
2 | lnc-VPREB1-7 | chr22:22658308-22658479 | ENSG00000236850.4 |
3 | lnc-VPREB1-7 | chr22:22678059-22678287 | NONHSAT083774 |
4 | lnc-VPREB1-20 | chr22:22415489-22415536 | NONHSAT083738 |
5 | lnc-VPREB1-7 | chr22:22673254-22674232 | NONHSAT083770 |
6 | lnc-VPREB1-7 | chr22:22676774-22677386 | NONHSAT083774 |
7 | lnc-VPREB1-7 | chr22:22661155-22661388 | NONHSAT083767 |
8 | lnc-VPREB1-7 | chr22:22657589-22657662 | NONHSAT083767 |
9 | lnc-ZNF280B-1 | chr22:22664286-22664357 | NONHSAT083769 |
10 | lnc-VPREB1-7 | chr22:22673254-22673606 | NONHSAT083768 |
11 | lnc-VPREB1-7 | chr22:22664591-22664766 | NONHSAT083772 |
12 | lnc-ZNF280B-3 | chr22:22638312-22641586 | ENSG00000272216.1 |
13 | lnc-VPREB1-19 | chr22:22424636-22424681 | NONHSAT083739 |
14 | lnc-VPREB1-7 | chr22:22673254-22673606 | ENSG00000236850.4 |
15 | lnc-VPREB1-13 | chr22:22478465-22478576 | NONHSAT083746 |
16 | lnc-VPREB1-2 | chr22:22390743-22390893 | ENSG00000225070.1 |
17 | lnc-VPREB1-17 | chr22:22434336-22434673 | NONHSAT083741 |
18 | lnc-VPREB1-7 | chr22:22661471-22661610 | ENSG00000236850.4 |
19 | lnc-VPREB1-16 | chr22:22440972-22441017 | NONHSAT083742 |
20 | lnc-VPREB1-2 | chr22:22393836-22394463 | ENSG00000225070.1 |
21 | lnc-VPREB1-7 | chr22:22664591-22664766 | ENSG00000236850.4 |
22 | lnc-VPREB1-19 | chr22:22424805-22425118 | NONHSAT083739 |
23 | lnc-VPREB1-17 | chr22:22434180-22434225 | NONHSAT083741 |
24 | lnc-VPREB1-7 | chr22:22661471-22661872 | NONHSAT083767 |
25 | lnc-VPREB1-7 | chr22:22677019-22677203 | ENSG00000236850.4 |
26 | lnc-VPREB1-23 | chr22:22393197-22393525 | NONHSAT083734 |
27 | lnc-VPREB1-7 | chr22:22664591-22664766 | NONHSAT083770 |
28 | lnc-VPREB1-3 | chr22:22574039-22574081 | NONHSAT083760 |
29 | lnc-VPREB1-25 | chr22:22380648-22380991 | NONHSAT083731 |
30 | lnc-VPREB1-13 | chr22:22509975-22510104 | NONHSAT083747 |
31 | lnc-VPREB1-20 | chr22:22415658-22415950 | NONHSAT083738 |
32 | lnc-VPREB1-10 | chr22:22516777-22517099 | NONHSAT083749 |
33 | lnc-VPREB1-5 | chr22:22540331-22541009 | NONHSAT083756 |
34 | lnc-VPREB1-7 | chr22:22695935-22696169 | NONHSAT083776 |
35 | lnc-VPREB1-21 | chr22:22412845-22413304 | NONHSAT083737 |
36 | lnc-VPREB1-7 | chr22:22661198-22661386 | NONHSAT083768 |
37 | lnc-VPREB1-7 | chr22:22673254-22673989 | NONHSAT083771 |
38 | lnc-VPREB1-7 | chr22:22661155-22661268 | ENSG00000236850.4 |
39 | lnc-VPREB1-7 | chr22:22664020-22664248 | NONHSAT083772 |
40 | lnc-VPREB1-23 | chr22:22393042-22393087 | NONHSAT083734 |
41 | lnc-VPREB1-7 | chr22:22664101-22664248 | NONHSAT083767 |
42 | lnc-TOP3B-4 | chr22:22525369-22525942 | NONHSAT083753 |
43 | lnc-VPREB1-18 | chr22:22429777-22430077 | NONHSAT083740 |
44 | lnc-VPREB1-7 | chr22:22664591-22664768 | NONHSAT083767 |
45 | lnc-VPREB1-22 | chr22:22398016-22398340 | NONHSAT083735 |
46 | lnc-VPREB1-11 | chr22:22511775-22512024 | NONHSAT083748 |
47 | lnc-VPREB1-7 | chr22:22658308-22658479 | NONHSAT083767 |
48 | lnc-VPREB1-24 | chr22:22387300-22387592 | NONHSAT083732 |
49 | lnc-VPREB1-7 | chr22:22652521-22652576 | NONHSAT083767 |
50 | lnc-TOP3B-1 | chr22:22380099-22380527 | NONHSAT083730 |
No data |
No data |
Variant related genes | Relation type |
---|---|
IGLV5-52 | TF binding region |
IGLVIV-59 | TF binding region |
IGLVIV-53 | TF binding region |
TOP3B | TF binding region |
ENSG00000234726 | TF binding region |
ENSG00000272779 | TF binding region |
IGLV10-54 | TF binding region |
ENSG00000225070 | TF binding region |
ABHD17AP5 | TF binding region |
PRAMENP | TF binding region |
IGLV9-49 | TF binding region |
IGLV6-57 | TF binding region |
TOP3BP1 | TF binding region |
IGLV1-62 | TF binding region |
IGLV1-51 | TF binding region |
IGLVIV-66-1 | TF binding region |
ENSG00000225724 | 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 |
IGLVI-70 | TF binding region |
IGLVIV-65 | TF binding region |
IGLVI-63 | TF binding region |
IGLV4-60 | TF binding region |
ENSG00000234630 | TF binding region |
ENSG00000232515 | TF binding region |
IGLVV-58 | TF binding region |
IGLVI-56 | TF binding region |
IGLV4-69 | TF binding region |
BMS1P20 | TF binding region |
ENSG00000233720 | TF binding region |
ENSG00000236118 | TF binding region |
IGLV8-61 | TF binding region |
VPREB1 | TF binding region |
ENSG00000228161 | TF binding region |
ENSG00000227710 | TF binding region |
ENSG00000272216 | TF binding region |
IGLV1-50 | TF binding region |
IGLVV-66 | TF binding region |
SOCS2P2 | TF binding region |
IGLVI-68 | TF binding region |
IGLV5-52 | CpG island |
IGLVIV-59 | CpG island |
IGLVIV-53 | CpG island |
TOP3B | CpG island |
ENSG00000234726 | CpG island |
ENSG00000272779 | CpG island |
IGLV10-54 | CpG island |
ENSG00000225070 | CpG island |
ABHD17AP5 | CpG island |
PRAMENP | CpG island |
IGLV9-49 | CpG island |
IGLV6-57 | CpG island |
TOP3BP1 | CpG island |
IGLV1-62 | CpG island |
IGLV1-51 | CpG island |
IGLVIV-66-1 | CpG island |
ENSG00000225724 | CpG island |
ENSG00000249333 | CpG island |
IGLVIV-64 | CpG island |
BMP6P1 | CpG island |
ENSG00000225741 | CpG island |
IGLV11-55 | CpG island |
IGLV10-67 | CpG island |
IGLVI-70 | CpG island |
IGLVIV-65 | CpG island |
IGLVI-63 | CpG island |
IGLV4-60 | CpG island |
ENSG00000234630 | CpG island |
ENSG00000232515 | CpG island |
IGLVV-58 | CpG island |
IGLVI-56 | CpG island |
IGLV4-69 | CpG island |
BMS1P20 | CpG island |
ENSG00000233720 | CpG island |
ENSG00000236118 | CpG island |
IGLV8-61 | CpG island |
VPREB1 | CpG island |
ENSG00000228161 | CpG island |
ENSG00000227710 | CpG island |
ENSG00000272216 | CpG island |
IGLV1-50 | CpG island |
IGLVV-66 | CpG island |
SOCS2P2 | CpG island |
IGLVI-68 | CpG island |
ENSG00000236323 | chromatin interactions |
ENSG00000236118 | chromatin interactions |
ENSG00000185686 | chromatin interactions |
ENSG00000227710 | chromatin interactions |
ENSG00000220891 | chromatin interactions |
ENSG00000253935 | chromatin interactions |
ENSG00000182502 | chromatin interactions |
ENSG00000211648 | chromatin interactions |
ENSG00000211641 | chromatin interactions |
ENSG00000070413 | chromatin interactions |
ENSG00000211644 | chromatin interactions |
ENSG00000253126 | chromatin interactions |
ENSG00000224465 | chromatin interactions |
ENSG00000253794 | chromatin interactions |
ENSG00000223461 | chromatin interactions |
ENSG00000211639 | chromatin interactions |
ENSG00000211653 | chromatin interactions |
ENSG00000253239 | chromatin interactions |
ENSG00000211640 | chromatin interactions |
ENSG00000233720 | chromatin interactions |
ENSG00000100027 | chromatin interactions |
ENSG00000254355 | chromatin interactions |
ENSG00000254075 | chromatin interactions |
ENSG00000254308 | chromatin interactions |
ENSG00000253752 | chromatin interactions |
ENSG00000232603 | chromatin interactions |
ENSG00000225724 | chromatin interactions |
ENSG00000253242 | chromatin interactions |
ENSG00000100038 | chromatin interactions |
ENSG00000225741 | chromatin interactions |
ENSG00000100023 | chromatin interactions |
ENSG00000211638 | chromatin interactions |
ENSG00000211645 | chromatin interactions |
ENSG00000249333 | chromatin interactions |
ENSG00000225070 | chromatin interactions |
ENSG00000169575 | chromatin interactions |
ENSG00000128228 | chromatin interactions |
ENSG00000254161 | chromatin interactions |
ENSG00000185651 | chromatin interactions |
ENSG00000111206 | chromatin interactions |
ENSG00000100034 | chromatin interactions |
ENSG00000253637 | chromatin interactions |
ENSG00000211643 | chromatin interactions |
ENSG00000228050 | chromatin interactions |
ENSG00000197549 | chromatin interactions |
ENSG00000212102 | chromatin interactions |
ENSG00000223350 | chromatin interactions |
ENSG00000211637 | chromatin interactions |
ENSG00000232515 | chromatin interactions |
ENSG00000224086 | chromatin interactions |
ENSG00000228161 | chromatin interactions |
ENSG00000253874 | chromatin interactions |
ENSG00000211647 | chromatin interactions |
ENSG00000253823 | chromatin interactions |
ENSG00000234726 | chromatin interactions |
ENSG00000211642 | chromatin interactions |
ENSG00000100030 | chromatin interactions |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs137885664 | chr22:22313128-22313129 | Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' | Chromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
2 | rs374054834 | chr22:22313152-22313153 | Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' | Chromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
3 | rs180981892 | chr22:22313198-22313199 | Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' | Chromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
4 | rs142637547 | chr22:22313221-22313222 | Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers | Chromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
5 | rs185904802 | chr22:22313222-22313223 | Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers | Chromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
6 | rs573102465 | chr22:22313294-22313295 | Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers | Chromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
7 | rs538928345 | chr22:22313363-22313364 | Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers | Chromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
8 | rs558390153 | chr22:22313443-22313444 | Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers | Chromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
9 | rs577631005 | chr22:22313446-22313447 | Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers | Chromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
10 | rs372919163 | chr22:22313465-22313466 | Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers | Chromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
11 | rs192483285 | chr22:22313488-22313489 | Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers | Chromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
12 | rs376446617 | chr22:22313542-22313543 | Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers | Chromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
13 | rs369635594 | chr22:22313546-22313547 | Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers | Chromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
14 | rs530461627 | chr22:22313559-22313560 | Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers | Chromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
15 | rs563475154 | chr22:22313564-22313565 | Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers | Chromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
16 | rs137950490 | chr22:22313573-22313574 | Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers | Chromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
17 | rs114332012 | chr22:22313591-22313592 | Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers | Chromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
18 | rs372155085 | chr22:22313597-22313598 | Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers | Chromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
19 | rs150098008 | chr22:22313598-22313599 | Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers | Chromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
20 | rs376220719 | chr22:22313635-22313636 | Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers | Chromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
21 | rs200004421 | chr22:22313642-22313643 | Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers | Chromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
22 | rs2266972 | chr22:22313669-22313670 | Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers | Chromatin interactive region | 5 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
23 | rs149922415 | chr22:22313711-22313712 | Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers | Chromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
24 | rs565548020 | chr22:22313732-22313733 | Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers | Chromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
25 | rs75104161 | chr22:22313733-22313734 | Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers | Chromatin interactive region | 5 gene(s) | Overlapped CNVs | mRNA abundance |
26 | rs73388154 | chr22:22313749-22313750 | Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers | Chromatin interactive region | 5 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
27 | rs146023535 | chr22:22313754-22313755 | Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers | Chromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
28 | rs536345480 | chr22:22313757-22313758 | Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers | Chromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
29 | rs112953094 | chr22:22313779-22313780 | Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers | Chromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
30 | rs546332224 | chr22:22313783-22313784 | Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers | Chromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
31 | rs183867483 | chr22:22313796-22313797 | Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers | Chromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
32 | rs239918 | chr22:22313829-22313830 | Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers | Chromatin interactive region | 5 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
33 | rs557627149 | chr22:22313839-22313840 | Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers | Chromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
34 | rs112465174 | chr22:22313840-22313841 | Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers | Chromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
35 | rs558448672 | chr22:22313855-22313856 | Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers | Chromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
36 | rs139988290 | chr22:22313863-22313864 | Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers | Chromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
37 | rs113294193 | chr22:22313870-22313871 | Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers | Chromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
38 | rs566987426 | chr22:22313875-22313876 | Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers | Chromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
39 | rs112919609 | chr22:22313883-22313884 | Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers | Chromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
40 | rs375327462 | chr22:22313943-22313944 | Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers | Chromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
41 | rs372970833 | chr22:22313971-22313972 | Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers | Chromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
42 | rs537087560 | chr22:22313978-22313979 | Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers | Chromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
43 | rs200455698 | chr22:22314023-22314024 | Weak transcription Strong transcription Genic enhancers Enhancers | Chromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
44 | rs138357708 | chr22:22314027-22314028 | Weak transcription Strong transcription Genic enhancers Enhancers | Chromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
45 | rs201487411 | chr22:22314034-22314035 | Weak transcription Strong transcription Genic enhancers Enhancers | Chromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
46 | rs149641188 | chr22:22314063-22314064 | Weak transcription Strong transcription Genic enhancers Enhancers | Chromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
47 | rs377631933 | chr22:22314103-22314104 | Weak transcription Strong transcription Genic enhancers Enhancers | Chromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
48 | rs141517762 | chr22:22314114-22314115 | Weak transcription Strong transcription Genic enhancers Enhancers | Chromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
49 | rs543114400 | chr22:22314122-22314123 | Weak transcription Strong transcription Genic enhancers Enhancers | Chromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
50 | rs113880042 | chr22:22314125-22314126 | Weak transcription Strong transcription Genic enhancers Enhancers | Chromatin interactive region | 5 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 |
early-passage human iPS cells | 21368824 | CNVD |
Ovarian clear cell carcinoma | 21343371 | CNVD |
Incontinentia Pigmenti | 22033527 | CNVD |
Rett syndrome | 21593744 | CNVD |
Recurrent pregnancy loss | 19789632 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr22:22307200-22313200 | Weak transcription | Primary hematopoietic stem cells | blood |
2 | chr22:22307200-22315800 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
3 | chr22:22307200-22315800 | Weak transcription | Colon Smooth Muscle | Colon |
4 | chr22:22307200-22316000 | Weak transcription | Small Intestine | intestine |
5 | chr22:22307200-22318800 | Weak transcription | Fetal Kidney | kidney |
6 | chr22:22307400-22320400 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
7 | chr22:22307600-22313200 | Weak transcription | Primary B cells from cord blood | blood |
8 | chr22:22307600-22313200 | Weak transcription | Osteobl | bone |
9 | chr22:22307600-22315800 | Weak transcription | HSMMtube | muscle |
10 | chr22:22307600-22316200 | Weak transcription | A549 | lung |
11 | chr22:22307600-22316200 | Weak transcription | NH-A | brain |
12 | chr22:22307600-22316200 | Weak transcription | NHDF-Ad | bronchial |
13 | chr22:22307600-22317800 | Weak transcription | Primary T helper naive cells from peripheral blood | blood |
14 | chr22:22307600-22318600 | Weak transcription | Primary T helper memory cells from peripheral blood 2 | blood |
15 | chr22:22307600-22320800 | Weak transcription | HSMM | muscle |
16 | chr22:22307600-22321600 | Weak transcription | Fetal Brain Male | brain |
17 | chr22:22307600-22324400 | Weak transcription | Pancreatic Islets | Pancreatic Islet |
18 | chr22:22307600-22325400 | Weak transcription | Psoas Muscle | Psoas |
19 | chr22:22307600-22325800 | Weak transcription | Primary T helper memory cells from peripheral blood 1 | blood |
20 | chr22:22307800-22313200 | Weak transcription | Primary T helper cells PMA-I stimulated | -- |
21 | chr22:22307800-22313200 | Weak transcription | GM12878-XiMat | blood |
22 | chr22:22307800-22313600 | Weak transcription | Primary T helper 17 cells PMA-I stimulated | -- |
23 | chr22:22307800-22315800 | Weak transcription | Primary T cells effector/memory enriched fromperipheralblood | blood |
24 | chr22:22307800-22316000 | Weak transcription | Rectal Smooth Muscle | rectum |
25 | chr22:22307800-22316200 | Weak transcription | Primary T killer naive cells fromperipheralblood | blood |
26 | chr22:22307800-22320600 | Weak transcription | Hela-S3 | cervix |
27 | chr22:22308000-22317800 | Weak transcription | HUVEC | blood vessel |
28 | chr22:22308000-22319600 | Weak transcription | Primary T killer memory cells from peripheral blood | blood |
29 | chr22:22309200-22313200 | Weak transcription | hESC Derived CD56+ Mesoderm Cultured Cells | ES cell derived |
30 | chr22:22311600-22330800 | Strong transcription | Primary mononuclear cells fromperipheralblood | Blood |
31 | chr22:22312200-22313600 | Strong transcription | Spleen | Spleen |
32 | chr22:22312200-22313800 | Strong transcription | Gastric | stomach |
33 | chr22:22312200-22314800 | Strong transcription | Fetal Adrenal Gland | Adrenal Gland |
34 | chr22:22312200-22318000 | Strong transcription | H1 Cell Line | embryonic stem cell |
35 | chr22:22312200-22322200 | Strong transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
36 | chr22:22312200-22326400 | Strong transcription | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
37 | chr22:22312200-22329800 | Strong transcription | Brain Substantia Nigra | brain |
38 | chr22:22312200-22330000 | Strong transcription | Brain Angular Gyrus | brain |
39 | chr22:22312200-22330200 | Strong transcription | iPS-18 Cell Line | embryonic stem cell |
40 | chr22:22312200-22330200 | Strong transcription | Adipose Nuclei | Adipose |
41 | chr22:22312200-22330200 | Strong transcription | Fetal Intestine Large | intestine |
42 | chr22:22312200-22330400 | Strong transcription | HUES48 Cell Line | embryonic stem cell |
43 | chr22:22312200-22330400 | Strong transcription | Primary neutrophils fromperipheralblood | blood |
44 | chr22:22312200-22330400 | Strong transcription | Liver | Liver |
45 | chr22:22312200-22330400 | Strong transcription | Stomach Smooth Muscle | stomach |
46 | chr22:22312200-22330400 | Strong transcription | Thymus | Thymus |
47 | chr22:22312200-22330800 | Strong transcription | Fetal Intestine Small | intestine |
48 | chr22:22312200-22335800 | Strong transcription | Fetal Stomach | stomach |
49 | chr22:22312400-22313200 | Genic enhancers | Breast Myoepithelial Primary Cells | Breast |
50 | chr22:22312400-22314000 | Strong transcription | Ovary | ovary |