Variant report
Variant | nsv431379 |
---|---|
Chromosome Location | chr1:58224212-58802608 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:3419)
- CpG islands (count:2746)
- Chromatin interactive region (count:58)
- LncRNA region (count:102)
- 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 | chr1:58236491-58236687 | HepG2 | liver: | n/a | n/a |
2 | ARID3A | chr1:58749281-58749702 | HepG2 | liver: | n/a | n/a |
3 | ARID3A | chr1:58555495-58555979 | HepG2 | liver: | n/a | n/a |
4 | ARID3A | chr1:58498153-58498322 | HepG2 | liver: | n/a | n/a |
5 | ATF1 | chr1:58281731-58281868 | K562 | blood: | n/a | n/a |
6 | ATF1 | chr1:58314191-58314287 | K562 | blood: | n/a | n/a |
7 | ATF1 | chr1:58422374-58422452 | K562 | blood: | n/a | n/a |
8 | ATF2 | chr1:58573560-58574050 | GM12878 | blood: | n/a | n/a |
9 | ATF2 | chr1:58570508-58571092 | GM12878 | blood: | n/a | n/a |
10 | ATF2 | chr1:58715990-58716418 | H1-hESC | embryonic stem cell: | n/a | n/a |
11 | ATF2 | chr1:58574418-58574971 | GM12878 | blood: | n/a | n/a |
12 | ATF2 | chr1:58716043-58716449 | H1-hESC | embryonic stem cell: | n/a | n/a |
13 | ATF2 | chr1:58432627-58433021 | H1-hESC | embryonic stem cell: | n/a | n/a |
14 | ATF2 | chr1:58570518-58571096 | GM12878 | blood: | n/a | n/a |
15 | ATF3 | chr1:58628695-58628989 | K562 | blood: | n/a | n/a |
16 | BACH1 | chr1:58628622-58628992 | H1-hESC | embryonic stem cell: | n/a | n/a |
17 | BACH1 | chr1:58715404-58716410 | H1-hESC | embryonic stem cell: | n/a | n/a |
18 | BACH1 | chr1:58472126-58472683 | H1-hESC | embryonic stem cell: | n/a | n/a |
19 | BACH1 | chr1:58769744-58769865 | H1-hESC | embryonic stem cell: | n/a | n/a |
20 | BACH1 | chr1:58762739-58762798 | H1-hESC | embryonic stem cell: | n/a | n/a |
21 | BACH1 | chr1:58301432-58301668 | H1-hESC | embryonic stem cell: | n/a | n/a |
22 | BATF | chr1:58570656-58571006 | GM12878 | blood: | n/a | chr1:58570891-58570900 |
23 | BATF | chr1:58345443-58345713 | GM12878 | blood: | n/a | chr1:58345609-58345618 |
24 | BATF | chr1:58714319-58714549 | GM12878 | blood: | n/a | n/a |
25 | BATF | chr1:58345479-58345719 | GM12878 | blood: | n/a | chr1:58345609-58345618 |
26 | BATF | chr1:58573628-58574032 | GM12878 | blood: | n/a | n/a |
27 | BATF | chr1:58570620-58571130 | GM12878 | blood: | n/a | chr1:58570891-58570900 |
28 | BATF | chr1:58504306-58504636 | GM12878 | blood: | n/a | chr1:58504464-58504474 chr1:58504463-58504474 |
29 | BCL11A | chr1:58391968-58392152 | GM12878 | blood: | n/a | chr1:58392001-58392010 |
30 | BCL11A | chr1:58392628-58392940 | GM12878 | blood: | n/a | n/a |
31 | BCL11A | chr1:58570632-58570995 | GM12878 | blood: | n/a | n/a |
32 | BCL11A | chr1:58570582-58571123 | GM12878 | blood: | n/a | n/a |
33 | BCL3 | chr1:58780064-58780410 | GM12878 | blood: | n/a | n/a |
34 | BCL3 | chr1:58712076-58712761 | GM12878 | blood: | n/a | n/a |
35 | BCL3 | chr1:58749130-58749421 | GM12878 | blood: | n/a | n/a |
36 | BCL3 | chr1:58780098-58780364 | GM12878 | blood: | n/a | n/a |
37 | BCL3 | chr1:58573670-58573997 | GM12878 | blood: | n/a | n/a |
38 | BCL3 | chr1:58712158-58712677 | GM12878 | blood: | n/a | n/a |
39 | BHLHE40 | chr1:58391913-58392359 | GM12878 | blood: | n/a | n/a |
40 | BHLHE40 | chr1:58624423-58624659 | GM12878 | blood: | n/a | n/a |
41 | BHLHE40 | chr1:58335285-58335350 | HepG2 | liver: | n/a | n/a |
42 | BHLHE40 | chr1:58570495-58571063 | GM12878 | blood: | n/a | n/a |
43 | BHLHE40 | chr1:58621147-58621242 | GM12878 | blood: | n/a | n/a |
44 | BHLHE40 | chr1:58390932-58391128 | GM12878 | blood: | n/a | n/a |
45 | BHLHE40 | chr1:58621766-58621966 | GM12878 | blood: | n/a | n/a |
46 | BHLHE40 | chr1:58392680-58392931 | GM12878 | blood: | n/a | n/a |
47 | BHLHE40 | chr1:58555529-58556022 | HepG2 | liver: | n/a | n/a |
48 | BHLHE40 | chr1:58432044-58432651 | GM12878 | blood: | n/a | n/a |
49 | BRCA1 | chr1:58623085-58623125 | GM12878 | blood: | n/a | n/a |
50 | BRCA1 | chr1:58531305-58531353 | GM12878 | blood: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr1:58704335-58704385 | AG09309 | skin: | n/a |
2 | chr1:58704335-58704385 | AG09309 | skin: | n/a |
3 | chr1:58325449-58325499 | Hepatocyte | liver: | n/a |
4 | chr1:58704335-58704385 | PANC-1 | pancreas: | n/a |
5 | chr1:58713941-58713991 | BJ | skin: | n/a |
6 | chr1:58343668-58343718 | NB4 | blood: | n/a |
7 | chr1:58773623-58773673 | ECC-1 | luminal epithelium: | n/a |
8 | chr1:58472821-58472871 | SAEC | small airway: | n/a |
9 | chr1:58715553-58715603 | HNPCEpiC | eye: | n/a |
10 | chr1:58332862-58332912 | NH-A | brain: | n/a |
11 | chr1:58450472-58450522 | MCF10A-Er-Src | breast: | n/a |
12 | chr1:58555364-58555414 | HRPEpiC | eye: | n/a |
13 | chr1:58740398-58740448 | HCPEpiC | choroid plexus: | n/a |
14 | chr1:58549612-58549662 | GM12891 | blood: | n/a |
15 | chr1:58530146-58530196 | NT2-D1 | testis: | n/a |
16 | chr1:58773623-58773673 | SK-N-MC | brain: | n/a |
17 | chr1:58715539-58715589 | MCF10A-Er-Src | breast: | n/a |
18 | chr1:58333307-58333357 | CMK | blood: | n/a |
19 | chr1:58549612-58549662 | HIPEpiC | eye: | n/a |
20 | chr1:58460380-58460430 | H1-hESC | embryonic stem cell: | embryo |
21 | chr1:58555364-58555414 | HCF | heart: | n/a |
22 | chr1:58453640-58453690 | HL-60 | blood: | n/a |
23 | chr1:58625006-58625056 | NB4 | blood: | n/a |
24 | chr1:58714305-58714355 | HNPCEpiC | eye: | n/a |
25 | chr1:58715747-58715797 | NHDF-neo | bronchial: | n/a |
26 | chr1:58717632-58717682 | HCT-116 | colon: | n/a |
27 | chr1:58715499-58715549 | ovcar-3 | ovarian: | n/a |
28 | chr1:58715499-58715549 | HRE | kidney: | n/a |
29 | chr1:58353581-58353631 | AG04450 | lung: | fetal |
30 | chr1:58257201-58257251 | HMEC | breast: | n/a |
31 | chr1:58712062-58712112 | AoSMC | blood vessel: | n/a |
32 | chr1:58713941-58713991 | HNPCEpiC | eye: | n/a |
33 | chr1:58450472-58450522 | HCF | heart: | n/a |
34 | chr1:58332862-58332912 | HNPCEpiC | eye: | n/a |
35 | chr1:58472821-58472871 | AG04450 | lung: | fetal |
36 | chr1:58625006-58625056 | HCPEpiC | choroid plexus: | n/a |
37 | chr1:58549612-58549662 | SAEC | small airway: | n/a |
38 | chr1:58324995-58325045 | PrEC | prostate: | n/a |
39 | chr1:58332862-58332912 | HCT-116 | colon: | n/a |
40 | chr1:58714452-58714502 | A549 | lung: | n/a |
41 | chr1:58712062-58712112 | HRE | kidney: | n/a |
42 | chr1:58257201-58257251 | AG09309 | skin: | n/a |
43 | chr1:58716662-58716712 | NH-A | brain: | n/a |
44 | chr1:58716257-58716307 | GM06990 | blood: | n/a |
45 | chr1:58716257-58716307 | H1-hESC | embryonic stem cell: | embryo |
46 | chr1:58714452-58714502 | RPTEC | kidney: | n/a |
47 | chr1:58324995-58325045 | BE2_C | brain: | n/a |
48 | chr1:58716033-58716083 | HEEpiC | esophagus: | n/a |
49 | chr1:58353581-58353631 | PANC-1 | pancreas: | n/a |
50 | chr1:58324995-58325045 | HepG2 | liver: | n/a |
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr1:58408522..58410161-chr1:58420814..58423235,2 | K562 | blood: | |
2 | chr1:58457816..58459826-chr1:58462935..58464640,2 | K562 | blood: | |
3 | chr1:58362313..58365047-chr1:58367118..58369976,3 | K562 | blood: | |
4 | chr1:58577364..58579775-chr1:58581078..58583848,2 | MCF-7 | breast: | |
5 | chr1:58358016..58360181-chr1:58361121..58362700,2 | MCF-7 | breast: | |
6 | chr1:58333112..58336025-chr1:58408563..58410317,2 | K562 | blood: | |
7 | chr1:58722416..58724317-chr1:58724409..58727199,2 | K562 | blood: | |
8 | chr1:58784244..58786093-chr1:58791525..58794054,2 | K562 | blood: | |
9 | chr1:58740800..58743267-chr1:58744921..58746475,2 | K562 | blood: | |
10 | chr1:58747692..58750339-chr1:58769742..58771808,2 | MCF-7 | breast: | |
11 | chr1:58558623..58560712-chr1:58561974..58564964,2 | K562 | blood: | |
12 | chr1:58314989..58316769-chr1:58318311..58321122,2 | K562 | blood: | |
13 | chr1:58314989..58316769-chr1:58318311..58321122,2 | K562 | blood: | |
14 | chr1:58570655..58572419-chr1:58578627..58580826,2 | K562 | blood: | |
15 | chr1:58717073..58717741-chr1:59012205..59012834,2 | K562 | blood: | |
16 | chr1:58362313..58363892-chr1:58368338..58369976,2 | K562 | blood: | |
17 | chr1:58457816..58459826-chr1:58462935..58464640,2 | K562 | blood: | |
18 | chr1:58558623..58560712-chr1:58561974..58564964,2 | K562 | blood: | |
19 | chr1:58762783..58765728-chr1:58766198..58768181,2 | K562 | blood: | |
20 | chr1:58478926..58479690-chr1:58512841..58513526,2 | K562 | blood: | |
21 | chr1:58740800..58743267-chr1:58744921..58746475,2 | K562 | blood: | |
22 | chr1:58767959..58770978-chr1:58771115..58773596,3 | K562 | blood: | |
23 | chr1:58220191..58222879-chr1:58228759..58230899,2 | MCF-7 | breast: | |
24 | chr1:58408522..58410161-chr1:58420814..58423235,2 | K562 | blood: | |
25 | chr1:58221544..58223438-chr1:58227203..58228898,2 | K562 | blood: | |
26 | chr1:58539325..58541769-chr1:58543438..58546362,2 | K562 | blood: | |
27 | chr1:58649644..58651898-chr1:58682331..58684466,2 | K562 | blood: | |
28 | chr1:58710082..58711946-chr1:58713535..58716517,2 | K562 | blood: | |
29 | chr1:58362313..58365047-chr1:58367118..58369976,3 | K562 | blood: | |
30 | chr1:58412051..58412551-chr7:104502877..104503418,2 | MCF-7 | breast: | |
31 | chr1:58711426..58714604-chr1:58717021..58720890,3 | K562 | blood: | |
32 | chr1:58695463..58699634-chr1:58700177..58703076,3 | K562 | blood: | |
33 | chr1:58695463..58697376-chr1:58701576..58703812,2 | K562 | blood: | |
34 | chr1:58799608..58801830-chr1:58803246..58806854,3 | K562 | blood: | |
35 | chr1:58695463..58697376-chr1:58701576..58703812,2 | K562 | blood: | |
36 | chr1:58362313..58363892-chr1:58368338..58369976,2 | K562 | blood: | |
37 | chr1:58478926..58479690-chr1:58512841..58513526,2 | K562 | blood: | |
38 | chr1:58722416..58724317-chr1:58724409..58727199,2 | K562 | blood: | |
39 | chr1:58333112..58336025-chr1:58408563..58410317,2 | K562 | blood: | |
40 | chr1:58570655..58572419-chr1:58578627..58580826,2 | K562 | blood: | |
41 | chr1:58695764..58698603-chr1:58703376..58705494,2 | K562 | blood: | |
42 | chr1:57297262..57298223-chr1:58512647..58513594,3 | MCF-7 | breast: | |
43 | chr1:58722434..58724317-chr1:58724409..58727876,3 | K562 | blood: | |
44 | chr1:58722434..58724317-chr1:58724409..58727876,3 | K562 | blood: | |
45 | chr1:58762783..58765728-chr1:58766198..58768181,2 | K562 | blood: | |
46 | chr1:58415540..58417098-chr1:58432159..58434136,2 | K562 | blood: | |
47 | chr1:58695764..58698603-chr1:58703376..58705494,2 | K562 | blood: | |
48 | chr1:58448619..58449139-chr20:47315306..47315841,2 | MCF-7 | breast: | |
49 | chr1:58358016..58360181-chr1:58361121..58362700,2 | MCF-7 | breast: | |
50 | chr1:58415540..58417098-chr1:58432159..58434136,2 | K562 | blood: |
No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-C8A-4 | chr1:58326253-58326591 | ENSG00000226759 |
2 | lnc-C8A-4 | chr1:58326204-58326705 | ENSG00000226759.3 |
3 | lnc-C8A-4 | chr1:58328106-58328475 | ENSG00000226759.3 |
4 | lnc-C8A-4 | chr1:58343969-58344115 | ENSG00000226759.3 |
5 | lnc-C8A-4 | chr1:58343969-58344115 | ENSG00000226759.3 |
6 | lnc-C8A-4 | chr1:58326215-58326705 | ENSG00000226759 |
7 | lnc-C8A-4 | chr1:58328128-58328475 | ENSG00000226759.3 |
8 | lnc-C8A-4 | chr1:58326253-58326607 | ENSG00000226759.3 |
9 | lnc-C8A-4 | chr1:58331974-58332072 | ENSG00000226759.3 |
10 | lnc-OMA1-4 | chr1:58291743-58292127 | NONHSAT003479 |
11 | lnc-C8A-4 | chr1:58328128-58328191 | ENSG00000226759 |
12 | lnc-C8A-4 | chr1:58331974-58332072 | ENSG00000226759.3 |
13 | lnc-C8A-4 | chr1:58328127-58328191 | ENSG00000226759.3 |
14 | lnc-C8A-4 | chr1:58326215-58326591 | NR_104363 |
15 | lnc-C8A-4 | chr1:58342403-58342514 | ENSG00000226759.3 |
16 | lnc-C8A-4 | chr1:58342403-58342514 | ENSG00000226759.3 |
17 | lnc-C8A-5 | chr1:58343974-58344115 | ENSG00000230363 |
18 | lnc-C8A-6 | chr1:58545683-58545946 | ENSG00000235038 |
19 | lnc-C8A-8 | chr1:58417944-58418080 | NONHSAT003499 |
20 | lnc-C8A-4 | chr1:58339639-58339873 | ENSG00000226759.3 |
21 | lnc-C8A-4 | chr1:58328128-58328786 | NR_104363 |
22 | lnc-C8A-4 | chr1:58342403-58342514 | ENSG00000226759.3 |
23 | lnc-C8A-4 | chr1:58326260-58326544 | ENSG00000226759 |
24 | lnc-C8A-4 | chr1:58342403-58342514 | ENSG00000226759.3 |
25 | lnc-C8A-4 | chr1:58328106-58328472 | ENSG00000226759.3 |
26 | lnc-C8A-4 | chr1:58328128-58328786 | NR_104364 |
27 | lnc-C8A-4 | chr1:58328127-58328712 | ENSG00000226759.3 |
28 | lnc-C8A-4 | chr1:58326311-58326598 | ENSG00000226759.3 |
29 | lnc-C8A-4 | chr1:58326229-58326591 | ENSG00000226759.3 |
30 | lnc-C8A-4 | chr1:58328127-58328599 | ENSG00000226759.3 |
31 | lnc-C8A-5 | chr1:58346158-58346412 | ENSG00000230363 |
32 | lnc-C8A-4 | chr1:58330094-58330266 | ENSG00000226759.3 |
33 | lnc-C8A-4 | chr1:58328127-58328712 | ENSG00000226759.3 |
34 | lnc-C8A-4 | chr1:58340691-58340860 | ENSG00000226759.3 |
35 | lnc-C8A-4 | chr1:58328128-58328475 | ENSG00000226759.3 |
36 | lnc-C8A-4 | chr1:58328106-58328342 | ENSG00000226759.3 |
37 | lnc-C8A-6 | chr1:58525811-58525979 | ENSG00000235038 |
38 | lnc-C8A-4 | chr1:58330379-58330496 | ENSG00000226759.3 |
39 | lnc-C8A-4 | chr1:58326204-58326598 | ENSG00000226759.3 |
40 | lnc-C8A-8 | chr1:58422201-58422390 | NONHSAT003499 |
41 | lnc-C8A-4 | chr1:58326253-58326544 | ENSG00000226759.3 |
42 | lnc-C8A-4 | chr1:58328128-58328191 | ENSG00000226759.3 |
43 | lnc-C8A-4 | chr1:58328687-58328712 | ENSG00000226759.3 |
44 | lnc-C8A-4 | chr1:58330379-58330604 | ENSG00000226759.3 |
45 | lnc-C8A-4 | chr1:58330094-58330266 | ENSG00000226759.3 |
46 | lnc-C8A-4 | chr1:58330094-58330248 | NONHSAT003486 |
47 | lnc-C8A-4 | chr1:58328128-58328735 | ENSG00000226759 |
48 | lnc-C8A-4 | chr1:58345791-58345941 | ENSG00000226759.3 |
49 | lnc-C8A-4 | chr1:58328128-58328786 | NONHSAT003487 |
50 | lnc-C8A-4 | chr1:58342403-58342514 | ENSG00000226759.3 |
No data |
No data |
Variant related genes | Relation type |
---|---|
HNRNPA1P6 | TF binding region |
DAB1 | TF binding region |
DAB1-AS1 | TF binding region |
ENSG00000230546 | TF binding region |
RPS26P15 | TF binding region |
ENSG00000235038 | TF binding region |
ENSG00000233216 | TF binding region |
HNRNPA1P6 | CpG island |
DAB1 | CpG island |
DAB1-AS1 | CpG island |
ENSG00000230546 | CpG island |
RPS26P15 | CpG island |
ENSG00000235038 | CpG island |
ENSG00000233216 | CpG island |
ENSG00000173406 | chromatin interactions |
ENSG00000162600 | chromatin interactions |
ENSG00000238773 | chromatin interactions |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs11207100 | chr1:58224212-58224213 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
2 | rs139999399 | chr1:58224259-58224260 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs143567285 | chr1:58224300-58224301 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs375398334 | chr1:58224301-58224302 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs534854893 | chr1:58224310-58224311 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs35438587 | chr1:58224332-58224333 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
7 | rs146795299 | chr1:58224350-58224351 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs186615103 | chr1:58224352-58224353 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs11207101 | chr1:58224369-58224370 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs140609208 | chr1:58224371-58224372 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs573259768 | chr1:58224421-58224422 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs542218578 | chr1:58224434-58224435 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs115854618 | chr1:58224457-58224458 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs572884121 | chr1:58224503-58224504 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs11583280 | chr1:58224606-58224607 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
16 | rs538359493 | chr1:58224613-58224614 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs144337118 | chr1:58224621-58224622 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs533589637 | chr1:58224682-58224683 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs111657237 | chr1:58224717-58224718 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs191408564 | chr1:58224723-58224724 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs563984363 | chr1:58224737-58224738 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs534298483 | chr1:58224741-58224742 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs547372321 | chr1:58224811-58224812 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs184656465 | chr1:58224813-58224814 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs565677344 | chr1:58224825-58224826 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs557653065 | chr1:58224837-58224838 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs112384815 | chr1:58224865-58224866 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs991059 | chr1:58224887-58224888 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
29 | rs565337734 | chr1:58224900-58224901 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs376526471 | chr1:58224979-58224980 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs551603816 | chr1:58225060-58225061 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs571072210 | chr1:58225064-58225065 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs536856682 | chr1:58225079-58225080 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs535889120 | chr1:58225211-58225212 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs555233999 | chr1:58225217-58225218 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs556790654 | chr1:58225242-58225243 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs576697961 | chr1:58225249-58225250 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs189733428 | chr1:58225264-58225265 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs536192834 | chr1:58225319-58225320 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs3131739 | chr1:58225332-58225333 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
41 | rs572779790 | chr1:58225335-58225336 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs181328153 | chr1:58225341-58225342 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs185115762 | chr1:58225354-58225355 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs1408138 | chr1:58225373-58225374 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
45 | rs544036183 | chr1:58225393-58225394 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs563921033 | chr1:58225395-58225396 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs112259966 | chr1:58225396-58225397 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs77870129 | chr1:58225404-58225405 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
49 | rs74075849 | chr1:58225442-58225443 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
50 | rs2406280 | chr1:58225450-58225451 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | 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 |
Developmental delay | 21147756 | CNVD |
Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
Non-syndromic sensorineural hearing loss | 21293372 | 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 | chr1:58222000-58225600 | Weak transcription | HUES6 Cell Line | embryonic stem cell |
2 | chr1:58222400-58232800 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
3 | chr1:58222600-58226400 | Weak transcription | Fetal Heart | heart |
4 | chr1:58223200-58225800 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
5 | chr1:58223200-58226200 | Weak transcription | HUES48 Cell Line | embryonic stem cell |
6 | chr1:58225400-58226000 | Enhancers | iPS DF 6.9 Cell Line | embryonic stem cell |
7 | chr1:58225600-58226000 | Enhancers | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
8 | chr1:58225600-58226000 | Enhancers | HUES6 Cell Line | embryonic stem cell |
9 | chr1:58225600-58226000 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
10 | chr1:58225600-58226600 | Enhancers | H9 Cell Line | embryonic stem cell |
11 | chr1:58225800-58226000 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
12 | chr1:58225800-58226000 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
13 | chr1:58226000-58226800 | Weak transcription | H9 Derived Neuron Cultured Cells | ES cell derived |
14 | chr1:58226000-58227000 | Weak transcription | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
15 | chr1:58226400-58227800 | Enhancers | Fetal Heart | heart |
16 | chr1:58226600-58227800 | Weak transcription | H9 Cell Line | embryonic stem cell |
17 | chr1:58226800-58227600 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
18 | chr1:58227000-58227600 | Enhancers | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
19 | chr1:58231800-58232600 | Weak transcription | H9 Cell Line | embryonic stem cell |
20 | chr1:58232600-58233000 | Enhancers | H9 Cell Line | embryonic stem cell |
21 | chr1:58232600-58233200 | Enhancers | H1 Cell Line | embryonic stem cell |
22 | chr1:58232600-58233200 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
23 | chr1:58232600-58233400 | Enhancers | HUES48 Cell Line | embryonic stem cell |
24 | chr1:58232800-58233200 | Enhancers | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
25 | chr1:58232800-58233200 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
26 | chr1:58233000-58233400 | Enhancers | HUES6 Cell Line | embryonic stem cell |
27 | chr1:58233000-58238600 | Weak transcription | H9 Cell Line | embryonic stem cell |
28 | chr1:58234600-58234800 | Enhancers | iPS DF 6.9 Cell Line | embryonic stem cell |
29 | chr1:58235000-58235200 | Enhancers | HUES6 Cell Line | embryonic stem cell |
30 | chr1:58238600-58238800 | Enhancers | H9 Cell Line | embryonic stem cell |
31 | chr1:58245000-58245800 | Enhancers | Fetal Brain Female | brain |
32 | chr1:58253800-58255000 | Enhancers | Dnd41 | blood |
33 | chr1:58254000-58254400 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Female | -- |
34 | chr1:58254000-58254400 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
35 | chr1:58254000-58254600 | Enhancers | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
36 | chr1:58254000-58254800 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
37 | chr1:58254200-58254600 | Enhancers | Fetal Lung | lung |
38 | chr1:58257200-58257600 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
39 | chr1:58257200-58258200 | Enhancers | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
40 | chr1:58257400-58258000 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
41 | chr1:58257600-58262400 | Weak transcription | iPS-18 Cell Line | embryonic stem cell |
42 | chr1:58258000-58262400 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
43 | chr1:58258200-58259200 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
44 | chr1:58258600-58259000 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
45 | chr1:58259000-58259800 | Active TSS | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
46 | chr1:58259200-58259400 | Enhancers | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
47 | chr1:58259400-58259800 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
48 | chr1:58259800-58260000 | Enhancers | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
49 | chr1:58259800-58260000 | Flanking Active TSS | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
50 | chr1:58260000-58262800 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |