Variant report
Variant | nsv530017 |
---|---|
Chromosome Location | chr1:58002290-58669736 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:3154)
- CpG islands (count:1833)
- Chromatin interactive region (count:44)
- LncRNA region (count:104)
- 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 | chr1:58555495-58555979 | HepG2 | liver: | n/a | n/a |
2 | ARID3A | chr1:58236491-58236687 | HepG2 | liver: | n/a | n/a |
3 | ARID3A | chr1:58498153-58498322 | HepG2 | liver: | n/a | n/a |
4 | ATF1 | chr1:58088796-58088953 | K562 | blood: | n/a | n/a |
5 | ATF1 | chr1:58314191-58314287 | K562 | blood: | n/a | n/a |
6 | ATF1 | chr1:58422374-58422452 | K562 | blood: | n/a | n/a |
7 | ATF1 | chr1:58063178-58063197 | K562 | blood: | n/a | n/a |
8 | ATF1 | chr1:58281731-58281868 | K562 | blood: | n/a | n/a |
9 | ATF2 | chr1:58432627-58433021 | H1-hESC | embryonic stem cell: | n/a | n/a |
10 | ATF2 | chr1:58570518-58571096 | GM12878 | blood: | n/a | n/a |
11 | ATF2 | chr1:58570508-58571092 | GM12878 | blood: | n/a | n/a |
12 | ATF2 | chr1:58573560-58574050 | GM12878 | blood: | n/a | n/a |
13 | ATF2 | chr1:58574418-58574971 | GM12878 | blood: | n/a | n/a |
14 | ATF3 | chr1:58628695-58628989 | K562 | blood: | n/a | n/a |
15 | BACH1 | chr1:58628622-58628992 | H1-hESC | embryonic stem cell: | n/a | n/a |
16 | BACH1 | chr1:58088731-58088857 | H1-hESC | embryonic stem cell: | n/a | n/a |
17 | BACH1 | chr1:58472126-58472683 | H1-hESC | embryonic stem cell: | n/a | n/a |
18 | BACH1 | chr1:58301432-58301668 | H1-hESC | embryonic stem cell: | n/a | n/a |
19 | BACH1 | chr1:58148770-58149153 | H1-hESC | embryonic stem cell: | n/a | n/a |
20 | BATF | chr1:58570656-58571006 | GM12878 | blood: | n/a | chr1:58570891-58570900 |
21 | BATF | chr1:58207208-58207516 | GM12878 | blood: | n/a | chr1:58207387-58207398 |
22 | BATF | chr1:58207198-58207522 | GM12878 | blood: | n/a | chr1:58207387-58207398 |
23 | BATF | chr1:58504306-58504636 | GM12878 | blood: | n/a | chr1:58504464-58504474 chr1:58504463-58504474 |
24 | BATF | chr1:58345443-58345713 | GM12878 | blood: | n/a | chr1:58345609-58345618 |
25 | BATF | chr1:58570620-58571130 | GM12878 | blood: | n/a | chr1:58570891-58570900 |
26 | BATF | chr1:58573628-58574032 | GM12878 | blood: | n/a | n/a |
27 | BATF | chr1:58345479-58345719 | GM12878 | blood: | n/a | chr1:58345609-58345618 |
28 | BCL11A | chr1:58391968-58392152 | GM12878 | blood: | n/a | chr1:58392001-58392010 |
29 | BCL11A | chr1:58570632-58570995 | GM12878 | blood: | n/a | n/a |
30 | BCL11A | chr1:58392628-58392940 | GM12878 | blood: | n/a | n/a |
31 | BCL11A | chr1:58570582-58571123 | GM12878 | blood: | n/a | n/a |
32 | BCL3 | chr1:58573670-58573997 | GM12878 | blood: | n/a | n/a |
33 | BHLHE40 | chr1:58391913-58392359 | GM12878 | blood: | n/a | n/a |
34 | BHLHE40 | chr1:58621147-58621242 | GM12878 | blood: | n/a | n/a |
35 | BHLHE40 | chr1:58624423-58624659 | GM12878 | blood: | n/a | n/a |
36 | BHLHE40 | chr1:58086631-58086962 | HepG2 | liver: | n/a | n/a |
37 | BHLHE40 | chr1:58088727-58088844 | HepG2 | liver: | n/a | n/a |
38 | BHLHE40 | chr1:58185118-58185290 | K562 | blood: | n/a | n/a |
39 | BHLHE40 | chr1:58570495-58571063 | GM12878 | blood: | n/a | n/a |
40 | BHLHE40 | chr1:58207211-58207601 | GM12878 | blood: | n/a | n/a |
41 | BHLHE40 | chr1:58392680-58392931 | GM12878 | blood: | n/a | n/a |
42 | BHLHE40 | chr1:58335285-58335350 | HepG2 | liver: | n/a | n/a |
43 | BHLHE40 | chr1:58432044-58432651 | GM12878 | blood: | n/a | n/a |
44 | BHLHE40 | chr1:58621766-58621966 | GM12878 | blood: | n/a | n/a |
45 | BHLHE40 | chr1:58555529-58556022 | HepG2 | liver: | n/a | n/a |
46 | BHLHE40 | chr1:58390932-58391128 | GM12878 | blood: | n/a | n/a |
47 | BRCA1 | chr1:58162663-58162732 | Hela-S3 | cervix: | n/a | n/a |
48 | BRCA1 | chr1:58623085-58623125 | GM12878 | blood: | n/a | n/a |
49 | BRCA1 | chr1:58290446-58290479 | Hela-S3 | cervix: | n/a | n/a |
50 | BRCA1 | chr1:58424817-58424922 | Hela-S3 | cervix: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr1:58089001-58089051 | BE2_C | brain: | n/a |
2 | chr1:58126625-58126675 | NH-A | brain: | n/a |
3 | chr1:58018699-58018749 | HUVEC | blood vessel: | n/a |
4 | chr1:58089001-58089051 | BE2_C | brain: | n/a |
5 | chr1:58126625-58126675 | NH-A | brain: | n/a |
6 | chr1:58018699-58018749 | HUVEC | blood vessel: | n/a |
7 | chr1:58343668-58343718 | HCT-116 | colon: | n/a |
8 | chr1:58331989-58332039 | LNCaP | prostate: | n/a |
9 | chr1:58460380-58460430 | GM19239 | blood: | n/a |
10 | chr1:58089357-58089407 | MCF10A-Er-Src | breast: | n/a |
11 | chr1:58098908-58098958 | AG04449 | skin: | fetal |
12 | chr1:58324995-58325045 | HL-60 | blood: | n/a |
13 | chr1:58331989-58332039 | SK-N-SH | brain: | n/a |
14 | chr1:58453640-58453690 | SK-N-SH_RA | brain: | n/a |
15 | chr1:58332862-58332912 | HNPCEpiC | eye: | n/a |
16 | chr1:58063953-58064003 | SKMC | muscle: | n/a |
17 | chr1:58063953-58064003 | GM12891 | blood: | n/a |
18 | chr1:58333307-58333357 | HAEpiC | amniotic membrane: | n/a |
19 | chr1:58263321-58263371 | HepG2 | liver: | n/a |
20 | chr1:58530146-58530196 | HL-60 | blood: | n/a |
21 | chr1:58353581-58353631 | AG04450 | lung: | fetal |
22 | chr1:58325449-58325499 | HRE | kidney: | n/a |
23 | chr1:58331989-58332039 | HL-60 | blood: | n/a |
24 | chr1:58353581-58353631 | Jurkat | blood: | n/a |
25 | chr1:58126625-58126675 | T-47D | breast: | n/a |
26 | chr1:58472821-58472871 | RPTEC | kidney: | n/a |
27 | chr1:58353581-58353631 | SK-N-SH | brain: | n/a |
28 | chr1:58520532-58520582 | HRPEpiC | eye: | n/a |
29 | chr1:58331989-58332039 | Hepatocyte | liver: | n/a |
30 | chr1:58549612-58549662 | SK-N-SH_RA | brain: | n/a |
31 | chr1:58450472-58450522 | HIPEpiC | eye: | n/a |
32 | chr1:58332862-58332912 | HCPEpiC | choroid plexus: | n/a |
33 | chr1:58625006-58625056 | Caco-2 | colon: | n/a |
34 | chr1:58257201-58257251 | HMEC | breast: | n/a |
35 | chr1:58520532-58520582 | ProgFib | skin: | n/a |
36 | chr1:58263321-58263371 | Caco-2 | colon: | n/a |
37 | chr1:58625006-58625056 | NH-A | brain: | n/a |
38 | chr1:58331989-58332039 | Caco-2 | colon: | n/a |
39 | chr1:58324995-58325045 | NHDF-neo | bronchial: | n/a |
40 | chr1:58063953-58064003 | SK-N-SH | brain: | n/a |
41 | chr1:58602196-58602246 | T-47D | breast: | n/a |
42 | chr1:58190139-58190189 | SK-N-MC | brain: | n/a |
43 | chr1:58018699-58018749 | SKMC | muscle: | n/a |
44 | chr1:58628761-58628811 | HCM | heart: | n/a |
45 | chr1:58460380-58460430 | RPTEC | kidney: | n/a |
46 | chr1:58622038-58622088 | H1-hESC | embryonic stem cell: | embryo |
47 | chr1:58343668-58343718 | AG04450 | lung: | fetal |
48 | chr1:58622038-58622088 | HRCEpiC | kidney: | n/a |
49 | chr1:58625006-58625056 | Jurkat | blood: | n/a |
50 | chr1:58522070-58522120 | NHDF-neo | bronchial: | n/a |
(count:44 , 50 per page) page:
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr1:58200605..58202516-chr1:58204751..58206543,2 | K562 | blood: | |
2 | chr1:58333112..58336025-chr1:58408563..58410317,2 | K562 | blood: | |
3 | chr1:58539325..58541769-chr1:58543438..58546362,2 | K562 | blood: | |
4 | chr1:58133234..58135282-chr1:58139116..58141569,2 | K562 | blood: | |
5 | chr1:58457816..58459826-chr1:58462935..58464640,2 | K562 | blood: | |
6 | chr1:58457816..58459826-chr1:58462935..58464640,2 | K562 | blood: | |
7 | chr1:58577364..58579775-chr1:58581078..58583848,2 | MCF-7 | breast: | |
8 | chr1:58138959..58141721-chr1:58142053..58144092,2 | K562 | blood: | |
9 | chr1:58358016..58360181-chr1:58361121..58362700,2 | MCF-7 | breast: | |
10 | chr1:58362313..58365047-chr1:58367118..58369976,3 | K562 | blood: | |
11 | chr1:57972252..57973978-chr1:58083473..58085053,2 | K562 | blood: | |
12 | chr1:58314989..58316769-chr1:58318311..58321122,2 | K562 | blood: | |
13 | chr1:58172405..58174844-chr1:58175238..58177521,2 | K562 | blood: | |
14 | chr1:58415540..58417098-chr1:58432159..58434136,2 | K562 | blood: | |
15 | chr1:58133234..58135282-chr1:58139116..58141569,2 | K562 | blood: | |
16 | chr1:57297262..57298223-chr1:58512647..58513594,3 | MCF-7 | breast: | |
17 | chr1:58558623..58560712-chr1:58561974..58564964,2 | K562 | blood: | |
18 | chr1:58558623..58560712-chr1:58561974..58564964,2 | K562 | blood: | |
19 | chr1:58220191..58222879-chr1:58228759..58230899,2 | MCF-7 | breast: | |
20 | chr1:58362313..58363892-chr1:58368338..58369976,2 | K562 | blood: | |
21 | chr1:58172405..58174844-chr1:58175238..58177521,2 | K562 | blood: | |
22 | chr1:58138959..58141721-chr1:58142053..58144092,2 | K562 | blood: | |
23 | chr1:58570655..58572419-chr1:58578627..58580826,2 | K562 | blood: | |
24 | chr1:58415540..58417098-chr1:58432159..58434136,2 | K562 | blood: | |
25 | chr1:58408522..58410161-chr1:58420814..58423235,2 | K562 | blood: | |
26 | chr1:58408522..58410161-chr1:58420814..58423235,2 | K562 | blood: | |
27 | chr1:58649644..58651898-chr1:58682331..58684466,2 | K562 | blood: | |
28 | chr1:58478926..58479690-chr1:58512841..58513526,2 | K562 | blood: | |
29 | chr1:58314989..58316769-chr1:58318311..58321122,2 | K562 | blood: | |
30 | chr1:58412051..58412551-chr7:104502877..104503418,2 | MCF-7 | breast: | |
31 | chr1:58448619..58449139-chr20:47315306..47315841,2 | MCF-7 | breast: | |
32 | chr1:58200605..58202516-chr1:58204751..58206543,2 | K562 | blood: | |
33 | chr1:58195672..58197383-chr1:58200281..58202263,2 | K562 | blood: | |
34 | chr1:58221544..58223438-chr1:58227203..58228898,2 | K562 | blood: | |
35 | chr1:58539325..58541769-chr1:58543438..58546362,2 | K562 | blood: | |
36 | chr1:58333112..58336025-chr1:58408563..58410317,2 | K562 | blood: | |
37 | chr1:58358016..58360181-chr1:58361121..58362700,2 | MCF-7 | breast: | |
38 | chr1:58195672..58197383-chr1:58200281..58202263,2 | K562 | blood: | |
39 | chr1:58570655..58572419-chr1:58578627..58580826,2 | K562 | blood: | |
40 | chr1:58362313..58363892-chr1:58368338..58369976,2 | K562 | blood: | |
41 | chr1:58478926..58479690-chr1:58512841..58513526,2 | K562 | blood: | |
42 | chr1:58362313..58365047-chr1:58367118..58369976,3 | K562 | blood: | |
43 | chr1:58577364..58579775-chr1:58581078..58583848,2 | MCF-7 | breast: | |
44 | chr1:58083604..58085124-chr19:54704799..54707163,2 | K562 | blood: |
No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-C8A-4 | chr1:58346158-58346412 | ENSG00000226759.3 |
2 | lnc-C8A-4 | chr1:58343969-58344115 | ENSG00000226759.3 |
3 | lnc-C8A-4 | chr1:58326204-58326705 | ENSG00000226759.3 |
4 | lnc-C8A-4 | chr1:58330094-58330248 | NONHSAT003486 |
5 | lnc-C8A-4 | chr1:58328127-58328712 | ENSG00000226759.3 |
6 | lnc-C8A-4 | chr1:58342403-58342514 | ENSG00000226759.3 |
7 | lnc-C8A-4 | chr1:58330379-58330604 | ENSG00000226759.3 |
8 | lnc-C8A-4 | chr1:58333056-58333170 | ENSG00000226759 |
9 | lnc-C8A-4 | chr1:58326253-58326544 | ENSG00000226759.3 |
10 | lnc-C8A-4 | chr1:58339639-58339873 | ENSG00000226759.3 |
11 | lnc-C8A-4 | chr1:58328128-58328191 | ENSG00000226759.3 |
12 | lnc-C8A-4 | chr1:58330379-58330496 | ENSG00000226759.3 |
13 | lnc-C8A-4 | chr1:58328128-58328786 | NR_104364 |
14 | lnc-C8A-4 | chr1:58326253-58326607 | ENSG00000226759.3 |
15 | lnc-C8A-4 | chr1:58326215-58326581 | NR_104364 |
16 | lnc-C8A-4 | chr1:58330094-58330266 | ENSG00000226759.3 |
17 | lnc-C8A-8 | chr1:58422201-58422390 | NONHSAT003499 |
18 | lnc-C8A-4 | chr1:58330379-58330713 | ENSG00000226759.3 |
19 | lnc-C8A-6 | chr1:58543661-58543735 | ENSG00000235038 |
20 | lnc-C8A-4 | chr1:58343969-58344115 | ENSG00000226759.3 |
21 | lnc-C8A-4 | chr1:58328127-58328712 | ENSG00000226759.3 |
22 | lnc-C8A-4 | chr1:58326215-58326591 | NR_104363 |
23 | lnc-C8A-4 | chr1:58328128-58328475 | ENSG00000226759.3 |
24 | lnc-C8A-6 | chr1:58537222-58537306 | ENSG00000235038 |
25 | lnc-C8A-4 | chr1:58330094-58330266 | ENSG00000226759 |
26 | lnc-C8A-4 | chr1:58328128-58328712 | NONHSAT003486 |
27 | lnc-C8A-4 | chr1:58326253-58326591 | ENSG00000226759 |
28 | lnc-C8A-9 | chr1:58431929-58432146 | NONHSAT003500 |
29 | lnc-C8A-4 | chr1:58343969-58344137 | ENSG00000226759.3 |
30 | lnc-C8A-4 | chr1:58342403-58342514 | ENSG00000226759.3 |
31 | lnc-C8A-4 | chr1:58328128-58328191 | ENSG00000226759 |
32 | lnc-C8A-4 | chr1:58342403-58342514 | ENSG00000226759.3 |
33 | lnc-C8A-8 | chr1:58417944-58418080 | NONHSAT003499 |
34 | lnc-C8A-4 | chr1:58328128-58328475 | ENSG00000226759.3 |
35 | lnc-C8A-4 | chr1:58343969-58344445 | ENSG00000226759.3 |
36 | lnc-C8A-6 | chr1:58540071-58540097 | ENSG00000235038 |
37 | lnc-C8A-4 | chr1:58331974-58332072 | ENSG00000226759.3 |
38 | lnc-C8A-4 | chr1:58339639-58340013 | ENSG00000226759.3 |
39 | lnc-C8A-8 | chr1:58425625-58425776 | NONHSAT003499 |
40 | lnc-C8A-4 | chr1:58328106-58328472 | ENSG00000226759.3 |
41 | lnc-C8A-4 | chr1:58343969-58344016 | ENSG00000226759.3 |
42 | lnc-C8A-4 | chr1:58326260-58326544 | ENSG00000226759 |
43 | lnc-C8A-4 | chr1:58328128-58328887 | ENSG00000226759.3 |
44 | lnc-C8A-4 | chr1:58328127-58328191 | ENSG00000226759.3 |
45 | lnc-C8A-4 | chr1:58330379-58330496 | ENSG00000226759.3 |
46 | lnc-C8A-4 | chr1:58342403-58342514 | ENSG00000226759.3 |
47 | lnc-C8A-4 | chr1:58328127-58328712 | ENSG00000226759.3 |
48 | lnc-C8A-5 | chr1:58343974-58344115 | ENSG00000230363 |
49 | lnc-C8A-4 | chr1:58328106-58328475 | ENSG00000226759.3 |
50 | lnc-C8A-4 | chr1:58328106-58328450 | ENSG00000226759.3 |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000230546 | TF binding region |
RPS26P15 | TF binding region |
HNRNPA1P6 | TF binding region |
RPS20P5 | TF binding region |
DAB1 | TF binding region |
ENSG00000235038 | TF binding region |
DAB1-AS1 | TF binding region |
ENSG00000238773 | TF binding region |
ENSG00000230546 | CpG island |
RPS26P15 | CpG island |
HNRNPA1P6 | CpG island |
RPS20P5 | CpG island |
DAB1 | CpG island |
ENSG00000235038 | CpG island |
DAB1-AS1 | CpG island |
ENSG00000238773 | CpG island |
ENSG00000170889 | chromatin interactions |
ENSG00000238773 | chromatin interactions |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs397719193 | chr1:58002297-58002298 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs371045889 | chr1:58002320-58002321 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs527727230 | chr1:58002338-58002339 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs199849921 | chr1:58002365-58002366 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs199608055 | chr1:58002383-58002384 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs180807897 | chr1:58002407-58002408 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs386631493 | chr1:58002447-58002448 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs78802892 | chr1:58002452-58002453 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs186227779 | chr1:58002468-58002469 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs2691441 | chr1:58002491-58002492 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
11 | rs191095844 | chr1:58002508-58002509 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs7526129 | chr1:58002512-58002513 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
13 | rs570541883 | chr1:58002514-58002515 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs2691442 | chr1:58002530-58002531 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
15 | rs555478743 | chr1:58002576-58002577 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs372557741 | chr1:58002582-58002583 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs541047701 | chr1:58002596-58002597 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs149329634 | chr1:58002610-58002611 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs183156157 | chr1:58002634-58002635 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs543319639 | chr1:58002657-58002658 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs563198950 | chr1:58002701-58002702 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs186399766 | chr1:58002715-58002716 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs113132191 | chr1:58002750-58002751 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs542406001 | chr1:58002759-58002760 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs74708713 | chr1:58002794-58002795 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs562246548 | chr1:58002802-58002803 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs527762512 | chr1:58002810-58002811 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs547843341 | chr1:58002863-58002864 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs570772325 | chr1:58002872-58002873 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs144416998 | chr1:58002884-58002885 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs190477733 | chr1:58002896-58002897 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs113529954 | chr1:58002910-58002911 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs183046218 | chr1:58002956-58002957 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs536088641 | chr1:58002983-58002984 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs534370304 | chr1:58003010-58003011 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs374818657 | chr1:58003034-58003035 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs10889048 | chr1:58003035-58003036 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
38 | rs137888452 | chr1:58003056-58003057 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs577225336 | chr1:58003057-58003058 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs1524713 | chr1:58003131-58003132 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
41 | rs35954772 | chr1:58003147-58003148 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs78540608 | chr1:58003157-58003158 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs74793458 | chr1:58003256-58003257 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
44 | rs142445182 | chr1:58003307-58003308 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
45 | rs76282498 | chr1:58003319-58003320 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
46 | rs1524714 | chr1:58003324-58003325 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
47 | rs572959610 | chr1:58003332-58003333 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
48 | rs533186752 | chr1:58003345-58003346 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
49 | rs1524715 | chr1:58003409-58003410 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
50 | rs555294594 | chr1:58003410-58003411 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Papillary thyroid carcinoma | 21436994 | CNVD |
Adenoid cystic carcinoma | 18698036 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Esophageal squamous carcinoma | 18350619 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Wilms tumour | 21544195 | CNVD |
Coronary Disease | 20032323 | CNVD |
Prostate cancer | 21965145 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Stargardt''s disease | 17277736 | CNVD |
Neuroblastoma | 17897457 | CNVD |
Uveal melanoma | 21693616 | CNVD |
Cancer | 21637783 | CNVD |
Colorectal cancer | 20709793 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Neuroblastoma | 21484798 | CNVD |
Non-syndromic sensorineural hearing loss | 22290220 | CNVD |
Liposarcoma | 21253554 | CNVD |
Breast cancer | 21264507 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Astrocytoma | 17387387 | CNVD |
Cancer | 21499728 | CNVD |
Glioblastoma multiforme | 17387387 | CNVD |
Oligodendroglial tumors | 17285580 | CNVD |
Neuroblastoma | 17535989 | CNVD |
Pheochromocytoma | 17535989 | CNVD |
Prostate cancer | 16705090 | CNVD |
Astrocytoma | 17934521 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Neuroblastoma | 18664255 | CNVD |
Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
Multiple myeloma | 17077331 | CNVD |
Gastrointestinal stromal cancer | 19259404 | CNVD |
Gastrointestinal stromal cancer | 20470368 | CNVD |
Gastrointestinal stromal cancer | 17535989 | CNVD |
Neuroblastoma | 17533364 | CNVD |
Paraganglioma | 17535989 | CNVD |
Pulmonary chondroma | 17535989 | CNVD |
Myofibroblastic sarcoma | 19369631 | CNVD |
Breast cancer | 17603634 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
HIV/AIDS | 22032296 | CNVD |
Schizophrenia | 19415332 | CNVD |
Non-syndromic sensorineural hearing loss | 21030649 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Autism | 22495311 | CNVD |
Non-small cell lung cancer | 21385341 | CNVD |
Gastrointestinal stromal cancer | 16982739 | CNVD |
Chordoma | 21602918 | CNVD |
Acute lymphoblastic leukemia | 17443227 | CNVD |
Melanoma | 18172304 | CNVD |
Multiple myeloma | 16461302 | CNVD |
Melanoma | 17363583 | CNVD |
Cancer | 21129771 | CNVD |
Autosomal dominant nocturnal frontal lobe epilepsy | 18472482 | CNVD |
Hirschsprung''s Disease | 21712996 | CNVD |
Non-small cell lung cancer | 20864512 | CNVD |
Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
Thrombocytopenia-absent radius syndrome | 21933853 | CNVD |
Psychiatric disorder | 22848183 | CNVD |
Diffuse large b-cell lymphoma | 18287131 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Burkitt''s lymphoma | 18698080 | CNVD |
Breast cancer | 20409316 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Lung cancer | 18438408 | CNVD |
Splenic marginal zone lymphoma | 21957467 | CNVD |
Breast cancer | 17393978 | CNVD |
Cervical cancer | 21062161 | CNVD |
Cancer | 21183584 | CNVD |
Breast cancer | 21785460 | CNVD |
Breast cancer | 21364760 | CNVD |
Rett syndrome | 21593744 | CNVD |
Meckel-Gruber syndrome | 21572526 | CNVD |
Breast cancer | 16620391 | CNVD |
Multiple myeloma | 16616336 | CNVD |
Malignant mesothelioma | 18160781 | CNVD |
Pleural malignant mesothelioma | 18160781 | CNVD |
head and neck squamous cell carcinoma | 17671120 | CNVD |
Prostate cancer | 16573809 | CNVD |
Breast cancer | 16608533 | CNVD |
Breast cancer | 21509527 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Developmental delay | 19490664 | CNVD |
Glioblastoma multiforme | 22286061 | CNVD |
Ovarian cancer | 21720365 | CNVD |
Breast cancer | 22522925 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Developmental delay | 21147756 | CNVD |
Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
Glioma | 20126413 | CNVD |
Non-syndromic sensorineural hearing loss | 19587683 | CNVD |
early-passage human iPS cells | 21368824 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Cancer | 20164920 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr1:57989200-58012200 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
2 | chr1:58000800-58003800 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
3 | chr1:58000800-58003800 | Weak transcription | HUES6 Cell Line | embryonic stem cell |
4 | chr1:58001600-58002600 | Enhancers | Breast Myoepithelial Primary Cells | Breast |
5 | chr1:58001600-58002600 | Enhancers | Fetal Muscle Leg | muscle |
6 | chr1:58001800-58002600 | Enhancers | Skeletal Muscle Female | skeletal muscle |
7 | chr1:58002200-58002800 | Enhancers | Psoas Muscle | Psoas |
8 | chr1:58002200-58007800 | Weak transcription | Stomach Mucosa | stomach |
9 | chr1:58002400-58002600 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
10 | chr1:58002400-58002800 | Enhancers | Skeletal Muscle Male | skeletal muscle |
11 | chr1:58002600-58003600 | Weak transcription | Skeletal Muscle Female | skeletal muscle |
12 | chr1:58002600-58004000 | Weak transcription | Fetal Muscle Leg | muscle |
13 | chr1:58002600-58007400 | Weak transcription | Breast Myoepithelial Primary Cells | Breast |
14 | chr1:58002800-58003200 | Weak transcription | Psoas Muscle | Psoas |
15 | chr1:58002800-58003200 | Weak transcription | Skeletal Muscle Male | skeletal muscle |
16 | chr1:58002800-58004000 | Weak transcription | H9 Derived Neuron Cultured Cells | ES cell derived |
17 | chr1:58003200-58003800 | Enhancers | Skeletal Muscle Male | skeletal muscle |
18 | chr1:58003200-58004000 | Enhancers | Psoas Muscle | Psoas |
19 | chr1:58003800-58004000 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
20 | chr1:58003800-58004000 | Enhancers | Skeletal Muscle Female | skeletal muscle |
21 | chr1:58003800-58004400 | Enhancers | iPS DF 6.9 Cell Line | embryonic stem cell |
22 | chr1:58003800-58004600 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
23 | chr1:58003800-58004800 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
24 | chr1:58003800-58004800 | Enhancers | H9 Cell Line | embryonic stem cell |
25 | chr1:58003800-58004800 | Enhancers | HUES6 Cell Line | embryonic stem cell |
26 | chr1:58004000-58005000 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
27 | chr1:58004200-58004400 | Enhancers | Fetal Muscle Leg | muscle |
28 | chr1:58004200-58004800 | Enhancers | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
29 | chr1:58004200-58004800 | Enhancers | HUES48 Cell Line | embryonic stem cell |
30 | chr1:58004200-58004800 | Enhancers | HUES64 Cell Line | embryonic stem cell |
31 | chr1:58004200-58004800 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
32 | chr1:58004400-58004800 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
33 | chr1:58004600-58004800 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
34 | chr1:58007400-58008400 | Enhancers | Breast Myoepithelial Primary Cells | Breast |
35 | chr1:58007800-58008000 | Enhancers | Stomach Mucosa | stomach |
36 | chr1:58008400-58010800 | Weak transcription | Breast Myoepithelial Primary Cells | Breast |
37 | chr1:58010800-58012600 | Enhancers | Breast Myoepithelial Primary Cells | Breast |
38 | chr1:58012200-58012600 | Enhancers | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
39 | chr1:58012200-58013000 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
40 | chr1:58012400-58012600 | Enhancers | GM12878-XiMat | blood |
41 | chr1:58012600-58014200 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
42 | chr1:58013000-58013400 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
43 | chr1:58013200-58013400 | Enhancers | GM12878-XiMat | blood |
44 | chr1:58013400-58013600 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
45 | chr1:58013600-58017200 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
46 | chr1:58014200-58015000 | Enhancers | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
47 | chr1:58015000-58015800 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
48 | chr1:58015200-58016200 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
49 | chr1:58015800-58018800 | Enhancers | HUES6 Cell Line | embryonic stem cell |
50 | chr1:58015800-58020200 | Enhancers | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |