Variant report
Variant | nsv1004715 |
---|---|
Chromosome Location | chr4:8703109-9486075 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:4574)
- CpG islands (count:2076)
- Chromatin interactive region (count:101)
- LncRNA region (count:29)
- 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 | chr4:9155684-9155703 | HepG2 | liver: | n/a | n/a |
2 | ARID3A | chr4:9154835-9154872 | HepG2 | liver: | n/a | n/a |
3 | ARID3A | chr4:9454189-9454353 | HepG2 | liver: | n/a | n/a |
4 | ATF1 | chr4:9154438-9155046 | K562 | blood: | n/a | n/a |
5 | ATF3 | chr4:8854995-8855309 | H1-hESC | embryonic stem cell: | n/a | n/a |
6 | ATF3 | chr4:8854977-8855363 | H1-hESC | embryonic stem cell: | n/a | n/a |
7 | ATF3 | chr4:9154337-9154466 | K562 | blood: | n/a | n/a |
8 | ATF3 | chr4:8855081-8855244 | K562 | blood: | n/a | n/a |
9 | BACH1 | chr4:8861399-8861529 | H1-hESC | embryonic stem cell: | n/a | n/a |
10 | BACH1 | chr4:8874989-8875170 | H1-hESC | embryonic stem cell: | n/a | n/a |
11 | BACH1 | chr4:8873787-8873987 | H1-hESC | embryonic stem cell: | n/a | n/a |
12 | BACH1 | chr4:8862268-8862627 | H1-hESC | embryonic stem cell: | n/a | n/a |
13 | BACH1 | chr4:8857632-8857756 | H1-hESC | embryonic stem cell: | n/a | n/a |
14 | BACH1 | chr4:8875855-8875971 | H1-hESC | embryonic stem cell: | n/a | n/a |
15 | BACH1 | chr4:8857031-8857091 | H1-hESC | embryonic stem cell: | n/a | n/a |
16 | BACH1 | chr4:8869917-8869990 | H1-hESC | embryonic stem cell: | n/a | n/a |
17 | BACH1 | chr4:8858777-8858889 | H1-hESC | embryonic stem cell: | n/a | n/a |
18 | BACH1 | chr4:8894725-8895016 | H1-hESC | embryonic stem cell: | n/a | n/a |
19 | BACH1 | chr4:8859610-8859971 | H1-hESC | embryonic stem cell: | n/a | n/a |
20 | BACH1 | chr4:8862941-8863709 | H1-hESC | embryonic stem cell: | n/a | n/a |
21 | BACH1 | chr4:8893693-8893726 | H1-hESC | embryonic stem cell: | n/a | n/a |
22 | BATF | chr4:9125270-9125602 | GM12878 | blood: | n/a | n/a |
23 | BATF | chr4:9050852-9051138 | GM12878 | blood: | n/a | n/a |
24 | BATF | chr4:9050779-9051110 | GM12878 | blood: | n/a | n/a |
25 | BATF | chr4:9382976-9383219 | GM12878 | blood: | n/a | n/a |
26 | BATF | chr4:8947322-8947571 | GM12878 | blood: | n/a | chr4:8947446-8947457 |
27 | BATF | chr4:9456872-9457051 | GM12878 | blood: | n/a | n/a |
28 | BATF | chr4:8947373-8947544 | GM12878 | blood: | n/a | chr4:8947446-8947457 |
29 | BATF | chr4:8877064-8877233 | GM12878 | blood: | n/a | chr4:8877125-8877134 |
30 | BATF | chr4:9078511-9078942 | GM12878 | blood: | n/a | n/a |
31 | BATF | chr4:9167731-9168069 | GM12878 | blood: | n/a | n/a |
32 | BATF | chr4:9155872-9156200 | GM12878 | blood: | n/a | n/a |
33 | BATF | chr4:9027580-9027939 | GM12878 | blood: | n/a | n/a |
34 | BATF | chr4:9155849-9156145 | GM12878 | blood: | n/a | n/a |
35 | BATF | chr4:9059496-9059973 | GM12878 | blood: | n/a | n/a |
36 | BATF | chr4:9078532-9078952 | GM12878 | blood: | n/a | n/a |
37 | BATF | chr4:9016052-9016284 | GM12878 | blood: | n/a | chr4:9016178-9016189 |
38 | BATF | chr4:9093143-9093398 | GM12878 | blood: | n/a | n/a |
39 | BATF | chr4:9431784-9432036 | GM12878 | blood: | n/a | n/a |
40 | BATF | chr4:9390689-9391024 | GM12878 | blood: | n/a | n/a |
41 | BATF | chr4:9167836-9168045 | GM12878 | blood: | n/a | n/a |
42 | BATF | chr4:8911262-8911579 | GM12878 | blood: | n/a | n/a |
43 | BATF | chr4:9027943-9028103 | GM12878 | blood: | n/a | n/a |
44 | BATF | chr4:9383032-9383262 | GM12878 | blood: | n/a | n/a |
45 | BATF | chr4:9019180-9019377 | GM12878 | blood: | n/a | n/a |
46 | BATF | chr4:9160170-9160447 | GM12878 | blood: | n/a | n/a |
47 | BATF | chr4:9027584-9027898 | GM12878 | blood: | n/a | n/a |
48 | BATF | chr4:9069049-9069339 | GM12878 | blood: | n/a | n/a |
49 | BATF | chr4:9170428-9170639 | GM12878 | blood: | n/a | n/a |
50 | BATF | chr4:9481132-9481453 | GM12878 | blood: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr4:9371392-9371442 | SAEC | small airway: | n/a |
2 | chr4:9382765-9382815 | AG04449 | skin: | fetal |
3 | chr4:9371392-9371442 | SAEC | small airway: | n/a |
4 | chr4:9382765-9382815 | AG04449 | skin: | fetal |
5 | chr4:9453010-9453060 | MCF-7 | breast: | n/a |
6 | chr4:9482074-9482124 | BJ | skin: | n/a |
7 | chr4:9484955-9485005 | HepG2 | liver: | n/a |
8 | chr4:9478065-9478115 | PFSK-1 | brain: | n/a |
9 | chr4:9385754-9385804 | A549 | lung: | n/a |
10 | chr4:9382961-9383011 | HRCEpiC | kidney: | n/a |
11 | chr4:9481822-9481872 | NT2-D1 | testis: | n/a |
12 | chr4:9478065-9478115 | T-47D | breast: | n/a |
13 | chr4:9371392-9371442 | AoSMC | blood vessel: | n/a |
14 | chr4:9476719-9476769 | AG10803 | skin: | n/a |
15 | chr4:9355372-9355422 | SK-N-MC | brain: | n/a |
16 | chr4:9476719-9476769 | HCT-116 | colon: | n/a |
17 | chr4:9383942-9383992 | RPTEC | kidney: | n/a |
18 | chr4:9445158-9445208 | GM12891 | blood: | n/a |
19 | chr4:9355372-9355422 | PFSK-1 | brain: | n/a |
20 | chr4:9355351-9355401 | BJ | skin: | n/a |
21 | chr4:9385754-9385804 | HL-60 | blood: | n/a |
22 | chr4:9484735-9484785 | HIPEpiC | eye: | n/a |
23 | chr4:9371043-9371093 | GM06990 | blood: | n/a |
24 | chr4:9453084-9453134 | GM12892 | blood: | n/a |
25 | chr4:9453084-9453134 | PrEC | prostate: | n/a |
26 | chr4:9382961-9383011 | HCPEpiC | choroid plexus: | n/a |
27 | chr4:9476719-9476769 | BE2_C | brain: | n/a |
28 | chr4:9385754-9385804 | HCPEpiC | choroid plexus: | n/a |
29 | chr4:9453010-9453060 | NB4 | blood: | n/a |
30 | chr4:9371043-9371093 | AG10803 | skin: | n/a |
31 | chr4:9385754-9385804 | GM12878 | blood: | n/a |
32 | chr4:9379166-9379216 | ProgFib | skin: | n/a |
33 | chr4:9479622-9479672 | HCM | heart: | n/a |
34 | chr4:9453650-9453700 | HAEpiC | amniotic membrane: | n/a |
35 | chr4:9355351-9355401 | SK-N-MC | brain: | n/a |
36 | chr4:9485487-9485537 | PFSK-1 | brain: | n/a |
37 | chr4:9457537-9457587 | GM12892 | blood: | n/a |
38 | chr4:9382066-9382116 | AG04450 | lung: | fetal |
39 | chr4:9457537-9457587 | HRE | kidney: | n/a |
40 | chr4:9382765-9382815 | HCM | heart: | n/a |
41 | chr4:9445586-9445636 | Caco-2 | colon: | n/a |
42 | chr4:9479947-9479997 | NH-A | brain: | n/a |
43 | chr4:9453650-9453700 | NH-A | brain: | n/a |
44 | chr4:9457537-9457587 | HEK293 | kidney: | embryo |
45 | chr4:9446084-9446134 | SK-N-MC | brain: | n/a |
46 | chr4:9382066-9382116 | GM12892 | blood: | n/a |
47 | chr4:9355351-9355401 | HRE | kidney: | n/a |
48 | chr4:9450292-9450342 | HCT-116 | colon: | n/a |
49 | chr4:9482233-9482283 | AG04450 | lung: | fetal |
50 | chr4:9371392-9371442 | GM12891 | blood: | n/a |
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr4:8732091..8733640-chr4:8882099..8884528,2 | MCF-7 | breast: | |
2 | chr4:8836102..8838665-chr4:8853304..8855667,2 | MCF-7 | breast: | |
3 | chr4:8701567..8704524-chr4:8729204..8732158,2 | K562 | blood: | |
4 | chr4:8595963..8596810-chr4:8919438..8920172,2 | MCF-7 | breast: | |
5 | chr4:8889120..8890631-chr4:8897595..8899572,2 | MCF-7 | breast: | |
6 | chr4:8854005..8855600-chr4:8858236..8860977,2 | MCF-7 | breast: | |
7 | chr4:8887461..8890172-chr4:8891389..8893910,2 | MCF-7 | breast: | |
8 | chr4:8821372..8822221-chr4:8847653..8848611,2 | MCF-7 | breast: | |
9 | chr4:8785973..8787809-chr4:8789851..8791798,2 | MCF-7 | breast: | |
10 | chr4:8667609..8668516-chr4:8887656..8888210,2 | MCF-7 | breast: | |
11 | chr4:8841775..8843355-chr4:8852105..8854658,2 | MCF-7 | breast: | |
12 | chr4:8709792..8713378-chr4:8726638..8730577,3 | K562 | blood: | |
13 | chr4:8677416..8680217-chr4:8770931..8773550,2 | K562 | blood: | |
14 | chr4:8609002..8610016-chr4:8919155..8920078,6 | MCF-7 | breast: | |
15 | chr4:8887461..8890172-chr4:8891389..8893910,2 | MCF-7 | breast: | |
16 | chr4:8850333..8852547-chr4:8858670..8860391,2 | MCF-7 | breast: | |
17 | chr4:8781022..8782784-chr4:8786066..8789038,2 | K562 | blood: | |
18 | chr4:8689647..8690533-chr4:8887295..8888077,4 | K562 | blood: | |
19 | chr4:8483492..8484345-chr4:8919742..8920371,2 | MCF-7 | breast: | |
20 | chr4:8853371..8854874-chr4:8860134..8861698,2 | K562 | blood: | |
21 | chr4:8874973..8877231-chr4:8879936..8882236,2 | K562 | blood: | |
22 | chr4:8693492..8696360-chr4:8722183..8724152,2 | MCF-7 | breast: | |
23 | chr4:8707817..8709520-chr4:8713049..8714741,2 | MCF-7 | breast: | |
24 | chr4:8778847..8780683-chr4:8898052..8900103,2 | MCF-7 | breast: | |
25 | chr4:8987440..8989215-chr4:9123032..9125625,2 | MCF-7 | breast: | |
26 | chr4:8709795..8712592-chr4:8714328..8716618,2 | MCF-7 | breast: | |
27 | chr4:8894855..8897793-chr4:8901951..8903870,2 | K562 | blood: | |
28 | chr4:8816885..8819513-chr4:8838676..8840311,2 | K562 | blood: | |
29 | chr4:8915119..8916758-chr8:12980450..12982349,2 | MCF-7 | breast: | |
30 | chr4:8442251..8443878-chr4:8907020..8909362,2 | MCF-7 | breast: | |
31 | chr4:8821716..8822276-chr4:8919332..8919908,2 | MCF-7 | breast: | |
32 | chr4:8609226..8610032-chr4:8887698..8888205,2 | MCF-7 | breast: | |
33 | chr4:8617932..8619527-chr4:8918338..8920672,2 | MCF-7 | breast: | |
34 | chr4:8821716..8822276-chr4:8919332..8919908,2 | MCF-7 | breast: | |
35 | chr4:8840268..8842596-chr4:8847457..8849928,2 | MCF-7 | breast: | |
36 | chr4:8987440..8989215-chr4:9123032..9125625,2 | MCF-7 | breast: | |
37 | chr4:8723681..8726595-chr4:8727045..8729022,2 | MCF-7 | breast: | |
38 | chr4:8840585..8842357-chr4:8849488..8852071,2 | MCF-7 | breast: | |
39 | chr4:8821602..8822427-chr4:8833992..8834964,2 | MCF-7 | breast: | |
40 | chr4:8707817..8709520-chr4:8713049..8714741,2 | MCF-7 | breast: | |
41 | chr4:8732091..8733640-chr4:8882099..8884528,2 | MCF-7 | breast: | |
42 | chr4:8689949..8690495-chr4:8884145..8884993,2 | MCF-7 | breast: | |
43 | chr4:8852857..8854871-chr4:8860134..8862966,2 | K562 | blood: | |
44 | chr4:8781022..8782784-chr4:8786066..8789038,2 | K562 | blood: | |
45 | chr4:8715458..8718338-chr4:8719661..8722261,4 | MCF-7 | breast: | |
46 | chr4:8821372..8822221-chr4:8847653..8848611,2 | MCF-7 | breast: | |
47 | chr4:8727792..8729635-chr4:8777761..8780174,2 | MCF-7 | breast: | |
48 | chr4:8723681..8726595-chr4:8727045..8729022,2 | MCF-7 | breast: | |
49 | chr4:8887296..8888159-chr4:8919813..8920332,3 | MCF-7 | breast: | |
50 | chr4:8875731..8878681-chr4:8880679..8882236,2 | K562 | blood: |
(count:29 , 50 per page) page:
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-HMX1-1 | chr4:8747123-8747482 | ENSG00000250915 |
2 | lnc-HMX1-4 | chr4:9036251-9037271 | NONHSAT095123 |
3 | lnc-HMX1-4 | chr4:9036310-9037271 | NONHSAT095124 |
4 | lnc-RP11-1396O13.13.1-1 | chr4:9388003-9388085 | XLOC_003878 |
5 | lnc-HMX1-4 | chr4:9036251-9037271 | NONHSAT095122 |
6 | lnc-HMX1-4 | chr4:9072963-9073140 | NONHSAT095124 |
7 | lnc-HMX1-2 | chr4:9022583-9022887 | NONHSAT095120 |
8 | lnc-DEFB131-1 | chr4:9470746-9471694 | NONHSAT095133 |
9 | lnc-HMX1-1 | chr4:8747656-8747759 | ENSG00000250915 |
10 | lnc-HMX1-3 | chr4:9053568-9053777 | NONHSAT095125 |
11 | lnc-HMX1-4 | chr4:9083355-9083373 | NONHSAT095123 |
12 | lnc-HMX1-1 | chr4:8747165-8747482 | NONHSAT095114 |
13 | lnc-HMX1-4 | chr4:9065968-9066056 | NONHSAT095122 |
14 | lnc-RP11-1396O13.13.1-2 | chr4:9390589-9390785 | l_2601_chr4:9381878-9390785_kidney |
15 | lnc-HMX1-4 | chr4:9074628-9074691 | NONHSAT095122 |
16 | lnc-RP11-1286E23.8.1-1 | chr4:9173538-9173895 | XLOC_003448 |
17 | lnc-RP11-1286E23.8.1-1 | chr4:9174843-9174908 | XLOC_003448 |
18 | lnc-ACOX3-3 | chr4:8862375-8862553 | ENSG00000258507.1 |
19 | lnc-HMX1-1 | chr4:8749072-8749394 | NONHSAT095113 |
20 | lnc-HMX1-1 | chr4:8747656-8747863 | NONHSAT095114 |
21 | lnc-HMX1-1 | chr4:8749072-8749394 | NONHSAT095114 |
22 | lnc-RP11-1396O13.13.1-2 | chr4:9381879-9382091 | l_2601_chr4:9381878-9390785_kidney |
23 | lnc-HMX1-4 | chr4:9065968-9066056 | NONHSAT095124 |
24 | lnc-ACOX3-3 | chr4:8860441-8860823 | ENSG00000258507.1 |
25 | lnc-HMX1-1 | chr4:8747672-8747863 | NONHSAT095113 |
26 | lnc-HMX1-1 | chr4:8747165-8747482 | NONHSAT095113 |
27 | lnc-RP11-1396O13.13.1-1 | chr4:9387384-9387466 | XLOC_003878 |
28 | lnc-RP11-1396O13.13.1-1 | chr4:9376809-9376876 | XLOC_003878 |
29 | lnc-HMX1-4 | chr4:9065968-9066056 | NONHSAT095123 |
No data |
No data |
Variant related genes | Relation type |
---|---|
RNA5SP153 | TF binding region |
OR7E85P | TF binding region |
USP17L11 | TF binding region |
USP17L22 | TF binding region |
ENSG00000264372 | TF binding region |
ENSG00000232773 | TF binding region |
OR7E84P | TF binding region |
ENSG00000250804 | TF binding region |
OR7E86P | TF binding region |
ENSG00000197468 | TF binding region |
ENSG00000219492 | TF binding region |
USP17L19 | TF binding region |
USP17L9P | TF binding region |
USP17L5 | TF binding region |
ALG1L14P | TF binding region |
USP17L10 | TF binding region |
FAM90A26 | TF binding region |
ENSG00000188438 | TF binding region |
USP17L17 | TF binding region |
USP17L15 | TF binding region |
USP17L26 | TF binding region |
USP17L23 | TF binding region |
USP17L25 | TF binding region |
USP17L6P | TF binding region |
USP17L27 | TF binding region |
USP17L20 | TF binding region |
FAM86KP | TF binding region |
ENSG00000258507 | TF binding region |
ENSG00000266246 | TF binding region |
USP17L18 | TF binding region |
ENSG00000250342 | TF binding region |
ENSG00000271057 | TF binding region |
ENSG00000251313 | TF binding region |
USP17L24 | TF binding region |
USP17L29 | TF binding region |
USP17L13 | TF binding region |
HMX1 | TF binding region |
USP17L14P | TF binding region |
USP17L12 | TF binding region |
ENSG00000238726 | TF binding region |
DEFB131 | TF binding region |
UNC93B8 | TF binding region |
USP17L30 | TF binding region |
ENSG00000250915 | TF binding region |
USP17L16P | TF binding region |
ENPP7P10 | TF binding region |
USP17L21 | TF binding region |
ENSG00000249347 | TF binding region |
USP17L28 | TF binding region |
RNA5SP153 | CpG island |
OR7E85P | CpG island |
USP17L11 | CpG island |
USP17L22 | CpG island |
ENSG00000264372 | CpG island |
ENSG00000232773 | CpG island |
OR7E84P | CpG island |
ENSG00000250804 | CpG island |
OR7E86P | CpG island |
ENSG00000197468 | CpG island |
ENSG00000219492 | CpG island |
USP17L19 | CpG island |
USP17L9P | CpG island |
USP17L5 | CpG island |
ALG1L14P | CpG island |
USP17L10 | CpG island |
FAM90A26 | CpG island |
ENSG00000188438 | CpG island |
USP17L17 | CpG island |
USP17L15 | CpG island |
USP17L26 | CpG island |
USP17L23 | CpG island |
USP17L25 | CpG island |
USP17L6P | CpG island |
USP17L27 | CpG island |
USP17L20 | CpG island |
FAM86KP | CpG island |
ENSG00000258507 | CpG island |
ENSG00000266246 | CpG island |
USP17L18 | CpG island |
ENSG00000250342 | CpG island |
ENSG00000271057 | CpG island |
ENSG00000251313 | CpG island |
USP17L24 | CpG island |
USP17L29 | CpG island |
USP17L13 | CpG island |
HMX1 | CpG island |
USP17L14P | CpG island |
USP17L12 | CpG island |
ENSG00000238726 | CpG island |
DEFB131 | CpG island |
UNC93B8 | CpG island |
USP17L30 | CpG island |
ENSG00000250915 | CpG island |
USP17L16P | CpG island |
ENPP7P10 | CpG island |
USP17L21 | CpG island |
ENSG00000249347 | CpG island |
USP17L28 | CpG island |
ENSG00000258507 | chromatin interactions |
ENSG00000155275 | chromatin interactions |
ENSG00000205959 | chromatin interactions |
ENSG00000170142 | chromatin interactions |
ENSG00000260278 | chromatin interactions |
ENSG00000138756 | chromatin interactions |
ENSG00000250915 | chromatin interactions |
ENSG00000071127 | chromatin interactions |
ENSG00000087008 | chromatin interactions |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs181623038 | chr4:8703117-8703118 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs370230853 | chr4:8703118-8703119 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs187153775 | chr4:8703136-8703137 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs541528693 | chr4:8703143-8703144 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs559637570 | chr4:8703145-8703146 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs28646265 | chr4:8703166-8703167 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
7 | rs7669450 | chr4:8703172-8703173 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs537001941 | chr4:8703187-8703188 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs145117503 | chr4:8703197-8703198 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs537095550 | chr4:8703217-8703218 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs6447889 | chr4:8703255-8703256 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
12 | rs576904043 | chr4:8703256-8703257 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs575679986 | chr4:8703268-8703269 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs559111507 | chr4:8703273-8703274 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs575059758 | chr4:8703276-8703277 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs542140974 | chr4:8703297-8703298 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs563497022 | chr4:8703307-8703308 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs79027612 | chr4:8703349-8703350 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs73086044 | chr4:8703367-8703368 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
20 | rs564238133 | chr4:8703368-8703369 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs528607505 | chr4:8703414-8703415 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs371951426 | chr4:8703426-8703427 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs6447890 | chr4:8703454-8703455 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
24 | rs189524730 | chr4:8703455-8703456 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs529972436 | chr4:8703458-8703459 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs150171182 | chr4:8703462-8703463 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs569825328 | chr4:8703463-8703464 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs535361375 | chr4:8703467-8703468 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs368396118 | chr4:8703468-8703469 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs145596754 | chr4:8703489-8703490 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs558832610 | chr4:8703502-8703503 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs570503166 | chr4:8703510-8703511 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs534450974 | chr4:8703514-8703515 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs6447891 | chr4:8703539-8703540 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
35 | rs181389492 | chr4:8703568-8703569 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs148877851 | chr4:8703579-8703580 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs557224198 | chr4:8703580-8703581 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
38 | rs145505093 | chr4:8703583-8703584 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
39 | rs138007752 | chr4:8703585-8703586 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
40 | rs184975504 | chr4:8703611-8703612 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs545967560 | chr4:8703612-8703613 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs574969794 | chr4:8703617-8703618 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs528551436 | chr4:8703626-8703627 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs11726615 | chr4:8703654-8703655 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
45 | rs562068542 | chr4:8703671-8703672 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs142068658 | chr4:8703710-8703711 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs575300437 | chr4:8703726-8703727 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs34526354 | chr4:8703729-8703730 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs538652939 | chr4:8703732-8703733 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs375748537 | chr4:8703779-8703780 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Melanoma | 20688739 | CNVD |
Wilms tumour | 21544195 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Non-syndromic sensorineural hearing loss | 20606397 | CNVD |
Oral squamous cell carcinoma | 17134496 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Breast cancer | 17603634 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Basal cell lymphoma | 17053054 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Neuroblastoma | 17533364 | CNVD |
head and neck squamous cell carcinoma | 17671120 | CNVD |
Cancer | 21637783 | CNVD |
Melanoma | 21693616 | CNVD |
Squamous cell cancer | 21044232 | CNVD |
Colorectal cancer | 20709793 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Non-small cell lung cancer | 21044232 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 17387387 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Breast cancer | 21264507 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Cervical cancer | 21062161 | CNVD |
Gastrointestinal stromal cancer | 16982739 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Chordoma | 21602918 | CNVD |
HIV/AIDS | 22032296 | CNVD |
Neuroblastoma | 18923191 | CNVD |
small cell lung cancer | 20016488 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Prostate cancer | 18632612 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Intellectual disability | 22102821 | CNVD |
Autism | 22495311 | CNVD |
Breast cancer | 21785460 | CNVD |
Chronic lymphocytic leukemia | 20421269 | CNVD |
Breast cancer | 21509527 | CNVD |
Lung cancer | 18438408 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Hirschsprung''s Disease | 21712996 | CNVD |
Schizophrenia | 22241247 | CNVD |
Autosomal-dominant microtia | 18179897 | CNVD |
Glioma | 17123091 | CNVD |
Colorectal cancer | 20459617 | CNVD |
Breast cancer | 17133270 | CNVD |
Sezary syndrome | 18413736 | CNVD |
Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
Ependymoma | 20639864 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
Schizophrenia | 23813976 | CNVD |
Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
Non-syndromic sensorineural hearing loss | 21030649 | CNVD |
Autism | 21865298 | CNVD |
Breast cancer | 22522925 | CNVD |
early-passage human iPS cells | 21368824 | CNVD |
Schizophrenia | 20967226 | CNVD |
Non-syndromic sensorineural hearing loss | 19587683 | CNVD |
Ovarian clear cell carcinoma | 21343371 | CNVD |
Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
Bipolar disorder | 19114987 | CNVD |
Breast cancer | 21858162 | CNVD |
Neuroblastoma | 20406844 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr4:8701600-8703400 | Weak transcription | Foreskin Melanocyte Primary Cells skin01 | Skin |
2 | chr4:8702200-8703600 | Enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |
3 | chr4:8703400-8704000 | Enhancers | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
4 | chr4:8703600-8704000 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
5 | chr4:8703800-8704200 | Enhancers | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
6 | chr4:8704000-8705800 | Enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |
7 | chr4:8704000-8706600 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
8 | chr4:8704200-8706000 | Weak transcription | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
9 | chr4:8705000-8705200 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
10 | chr4:8705600-8707000 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
11 | chr4:8705800-8706000 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
12 | chr4:8706000-8707000 | Genic enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |
13 | chr4:8706000-8707200 | Bivalent Enhancer | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
14 | chr4:8706000-8708600 | Enhancers | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
15 | chr4:8706400-8706800 | Bivalent Enhancer | Breast Myoepithelial Primary Cells | Breast |
16 | chr4:8706600-8708600 | Enhancers | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
17 | chr4:8706800-8708200 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
18 | chr4:8706800-8708400 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
19 | chr4:8707000-8707200 | Bivalent Enhancer | H9 Derived Neuron Cultured Cells | ES cell derived |
20 | chr4:8707000-8707200 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
21 | chr4:8707000-8707400 | Bivalent Enhancer | Fetal Muscle Trunk | muscle |
22 | chr4:8707000-8707800 | Enhancers | ES-WA7 Cell Line | embryonic stem cell |
23 | chr4:8707000-8707800 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
24 | chr4:8707000-8708600 | Enhancers | HUES6 Cell Line | embryonic stem cell |
25 | chr4:8707000-8709000 | Enhancers | HUES64 Cell Line | embryonic stem cell |
26 | chr4:8707200-8707800 | Bivalent Enhancer | Fetal Stomach | stomach |
27 | chr4:8707200-8708400 | Enhancers | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
28 | chr4:8707200-8708600 | Enhancers | H1 Cell Line | embryonic stem cell |
29 | chr4:8707200-8709200 | Enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |
30 | chr4:8707400-8707600 | Bivalent Enhancer | Foreskin Melanocyte Primary Cells skin01 | Skin |
31 | chr4:8707400-8708000 | Enhancers | hESC Derived CD56+ Mesoderm Cultured Cells | ES cell derived |
32 | chr4:8707400-8708000 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
33 | chr4:8707800-8708200 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
34 | chr4:8707800-8708800 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
35 | chr4:8708400-8709200 | Bivalent Enhancer | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
36 | chr4:8708800-8709000 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
37 | chr4:8709200-8710400 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
38 | chr4:8710400-8712400 | Enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |
39 | chr4:8711200-8712200 | Bivalent Enhancer | Fetal Muscle Trunk | muscle |
40 | chr4:8711400-8711600 | Bivalent Enhancer | HUES6 Cell Line | embryonic stem cell |
41 | chr4:8711600-8711800 | Bivalent Enhancer | Fetal Muscle Leg | muscle |
42 | chr4:8712400-8712800 | Genic enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |
43 | chr4:8712800-8720200 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
44 | chr4:8725400-8725600 | Bivalent Enhancer | Fetal Muscle Trunk | muscle |
45 | chr4:8725400-8726200 | Enhancers | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
46 | chr4:8725600-8725800 | Enhancers | H1 Cell Line | embryonic stem cell |
47 | chr4:8725800-8726600 | Weak transcription | H1 Cell Line | embryonic stem cell |
48 | chr4:8726400-8726600 | Flanking Bivalent TSS/Enh | Duodenum Mucosa | Duodenum |
49 | chr4:8726400-8726800 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
50 | chr4:8726400-8727000 | Enhancers | iPS DF 6.9 Cell Line | embryonic stem cell |