Variant report
Variant | nsv536303 |
---|---|
Chromosome Location | chr3:594267-1347353 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:2357)
- CpG islands (count:735)
- Chromatin interactive region (count:60)
- LncRNA region (count:20)
- 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 | ATF1 | chr3:1056506-1056524 | K562 | blood: | n/a | n/a |
2 | ATF1 | chr3:1235289-1235354 | K562 | blood: | n/a | n/a |
3 | ATF2 | chr3:1172821-1173212 | H1-hESC | embryonic stem cell: | n/a | n/a |
4 | BACH1 | chr3:1135881-1135904 | H1-hESC | embryonic stem cell: | n/a | n/a |
5 | BACH1 | chr3:1277576-1277666 | H1-hESC | embryonic stem cell: | n/a | n/a |
6 | BACH1 | chr3:1249806-1249899 | H1-hESC | embryonic stem cell: | n/a | chr3:1249829-1249843 |
7 | BACH1 | chr3:888492-888519 | H1-hESC | embryonic stem cell: | n/a | n/a |
8 | BACH1 | chr3:954485-954653 | H1-hESC | embryonic stem cell: | n/a | n/a |
9 | BATF | chr3:599789-600089 | GM12878 | blood: | n/a | chr3:599953-599962 |
10 | BATF | chr3:599827-600084 | GM12878 | blood: | n/a | chr3:599953-599962 |
11 | BATF | chr3:954466-954707 | GM12878 | blood: | n/a | chr3:954539-954550 chr3:954567-954578 chr3:954595-954606 |
12 | BATF | chr3:954370-954767 | GM12878 | blood: | n/a | chr3:954539-954550 chr3:954567-954578 chr3:954595-954606 |
13 | BATF | chr3:638972-639242 | GM12878 | blood: | n/a | chr3:639093-639102 |
14 | BATF | chr3:892892-893121 | GM12878 | blood: | n/a | chr3:892988-892999 |
15 | BATF | chr3:892848-893082 | GM12878 | blood: | n/a | chr3:892988-892999 |
16 | BCL11A | chr3:954445-954734 | GM12878 | blood: | n/a | n/a |
17 | BCL3 | chr3:1149010-1149230 | GM12878 | blood: | n/a | n/a |
18 | BCLAF1 | chr3:599656-600200 | GM12878 | blood: | n/a | chr3:599779-599788 chr3:599826-599835 |
19 | BHLHE40 | chr3:895419-895457 | GM12878 | blood: | n/a | n/a |
20 | BHLHE40 | chr3:943924-944164 | GM12878 | blood: | n/a | n/a |
21 | BHLHE40 | chr3:846853-846863 | GM12878 | blood: | n/a | n/a |
22 | BRCA1 | chr3:1225226-1225621 | Hela-S3 | cervix: | n/a | n/a |
23 | BRCA1 | chr3:815996-816027 | Hela-S3 | cervix: | n/a | n/a |
24 | BRCA1 | chr3:961437-961458 | GM12878 | blood: | n/a | n/a |
25 | BRCA1 | chr3:639591-639851 | Hela-S3 | cervix: | n/a | n/a |
26 | BRCA1 | chr3:991509-991520 | H1-hESC | embryonic stem cell: | n/a | n/a |
27 | BRCA1 | chr3:754720-755580 | Hela-S3 | cervix: | n/a | n/a |
28 | BRCA1 | chr3:1123741-1124044 | Hela-S3 | cervix: | n/a | n/a |
29 | BRCA1 | chr3:817416-817453 | Hela-S3 | cervix: | n/a | n/a |
30 | BRCA1 | chr3:638578-639330 | Hela-S3 | cervix: | n/a | n/a |
31 | BRCA1 | chr3:674381-674581 | H1-hESC | embryonic stem cell: | n/a | n/a |
32 | BRCA1 | chr3:1128644-1129340 | Hela-S3 | cervix: | n/a | n/a |
33 | BRCA1 | chr3:649451-649478 | Hela-S3 | cervix: | n/a | n/a |
34 | CEBPB | chr3:650039-650244 | HepG2 | liver: | n/a | chr3:650073-650084 chr3:650075-650084 |
35 | CEBPB | chr3:1343908-1344126 | HepG2 | liver: | n/a | chr3:1344018-1344029 chr3:1344018-1344031 |
36 | CEBPB | chr3:927603-927831 | HepG2 | liver: | n/a | chr3:927748-927759 chr3:927746-927757 chr3:927746-927759 |
37 | CEBPB | chr3:986492-986830 | HepG2 | liver: | n/a | chr3:986667-986678 |
38 | CEBPB | chr3:1225025-1225385 | IMR90 | lung: | n/a | chr3:1225189-1225200 chr3:1225191-1225200 chr3:1225191-1225202 chr3:1225191-1225200 chr3:1225189-1225202 chr3:1225189-1225202 chr3:1225191-1225200 chr3:1225191-1225200 |
39 | CEBPB | chr3:1285005-1285364 | A549 | lung: | n/a | chr3:1285182-1285193 |
40 | CEBPB | chr3:766028-766169 | H1-hESC | embryonic stem cell: | n/a | n/a |
41 | CEBPB | chr3:700997-701241 | H1-hESC | embryonic stem cell: | n/a | chr3:701126-701139 chr3:701128-701137 chr3:701128-701137 chr3:701128-701137 |
42 | CEBPB | chr3:611097-611344 | HepG2 | liver: | n/a | chr3:611201-611212 |
43 | CEBPB | chr3:1164082-1164363 | H1-hESC | embryonic stem cell: | n/a | chr3:1164197-1164208 |
44 | CEBPB | chr3:1266757-1267048 | HepG2 | liver: | n/a | chr3:1266885-1266896 |
45 | CEBPB | chr3:1165286-1165427 | H1-hESC | embryonic stem cell: | n/a | n/a |
46 | CEBPB | chr3:795219-795424 | K562 | blood: | n/a | n/a |
47 | CEBPB | chr3:1129010-1129359 | HepG2 | liver: | n/a | chr3:1129164-1129175 |
48 | CEBPB | chr3:1128706-1129408 | Hela-S3 | cervix: | n/a | chr3:1129164-1129175 chr3:1128961-1128973 |
49 | CEBPB | chr3:754275-756263 | Hela-S3 | cervix: | n/a | chr3:754384-754393 chr3:754382-754393 chr3:755103-755114 |
50 | CEBPB | chr3:697395-697928 | Hela-S3 | cervix: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr3:1133865-1133915 | U87 | brain: | n/a |
2 | chr3:1134005-1134055 | K562 | blood: | n/a |
3 | chr3:1133865-1133915 | NHBE | bronchial: | n/a |
4 | chr3:1133865-1133915 | U87 | brain: | n/a |
5 | chr3:1134005-1134055 | K562 | blood: | n/a |
6 | chr3:1133865-1133915 | NHBE | bronchial: | n/a |
7 | chr3:1134711-1134761 | ProgFib | skin: | n/a |
8 | chr3:1134528-1134578 | Jurkat | blood: | n/a |
9 | chr3:1134528-1134578 | SK-N-SH_RA | brain: | n/a |
10 | chr3:1134005-1134055 | RPTEC | kidney: | n/a |
11 | chr3:1133865-1133915 | HRPEpiC | eye: | n/a |
12 | chr3:1229376-1229426 | HCM | heart: | n/a |
13 | chr3:1133865-1133915 | SK-N-SH | brain: | n/a |
14 | chr3:782757-782807 | HRCEpiC | kidney: | n/a |
15 | chr3:1134711-1134761 | IMR90 | lung: | fetal |
16 | chr3:782757-782807 | AG04449 | skin: | fetal |
17 | chr3:1202463-1202513 | H1-hESC | embryonic stem cell: | embryo |
18 | chr3:1134005-1134055 | HCM | heart: | n/a |
19 | chr3:1229376-1229426 | NHDF-neo | bronchial: | n/a |
20 | chr3:1134366-1134416 | HCPEpiC | choroid plexus: | n/a |
21 | chr3:1229376-1229426 | NHBE | bronchial: | n/a |
22 | chr3:1202463-1202513 | AG09309 | skin: | n/a |
23 | chr3:1134005-1134055 | AoSMC | blood vessel: | n/a |
24 | chr3:1134005-1134055 | NT2-D1 | testis: | n/a |
25 | chr3:1134528-1134578 | A549 | lung: | n/a |
26 | chr3:1134005-1134055 | Jurkat | blood: | n/a |
27 | chr3:1284705-1284755 | GM19239 | blood: | n/a |
28 | chr3:1134366-1134416 | AG09309 | skin: | n/a |
29 | chr3:1229376-1229426 | H1-hESC | embryonic stem cell: | embryo |
30 | chr3:1134366-1134416 | ProgFib | skin: | n/a |
31 | chr3:1229376-1229426 | PrEC | prostate: | n/a |
32 | chr3:1229376-1229426 | HMEC | breast: | n/a |
33 | chr3:1133865-1133915 | ECC-1 | luminal epithelium: | n/a |
34 | chr3:1173560-1173610 | SK-N-SH_RA | brain: | n/a |
35 | chr3:1133865-1133915 | HEEpiC | esophagus: | n/a |
36 | chr3:1202463-1202513 | HCPEpiC | choroid plexus: | n/a |
37 | chr3:1134730-1134780 | LNCaP | prostate: | n/a |
38 | chr3:1229376-1229426 | AG09319 | gingival: | n/a |
39 | chr3:1134528-1134578 | RPTEC | kidney: | n/a |
40 | chr3:1134528-1134578 | NB4 | blood: | n/a |
41 | chr3:1133865-1133915 | GM12892 | blood: | n/a |
42 | chr3:1134005-1134055 | SK-N-MC | brain: | n/a |
43 | chr3:1134366-1134416 | PFSK-1 | brain: | n/a |
44 | chr3:1133865-1133915 | HEK293 | kidney: | embryo |
45 | chr3:1134005-1134055 | U87 | brain: | n/a |
46 | chr3:782757-782807 | SK-N-MC | brain: | n/a |
47 | chr3:1134366-1134416 | GM12878 | blood: | n/a |
48 | chr3:1133865-1133915 | HCT-116 | colon: | n/a |
49 | chr3:1134366-1134416 | ECC-1 | luminal epithelium: | n/a |
50 | chr3:1134711-1134761 | SK-N-MC | brain: | n/a |
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr2:44471645..44472524-chr3:1084585..1085105,2 | K562 | blood: | |
2 | chr1:229050784..229051693-chr3:758018..758663,2 | MCF-7 | breast: | |
3 | chr3:455533..456082-chr3:893341..894026,2 | MCF-7 | breast: | |
4 | chr3:1271635..1274308-chr3:1276225..1277746,2 | K562 | blood: | |
5 | chr3:1185425..1187107-chr3:1188609..1190735,2 | K562 | blood: | |
6 | chr3:1091106..1092914-chr3:1094575..1097571,2 | K562 | blood: | |
7 | chr3:746367..749271-chr3:749542..752426,2 | K562 | blood: | |
8 | chr3:1145760..1147872-chr3:1156472..1158821,2 | K562 | blood: | |
9 | chr3:674203..674975-chr3:2197712..2198482,2 | MCF-7 | breast: | |
10 | chr17:59489294..59491290-chr3:1177376..1179707,2 | MCF-7 | breast: | |
11 | chr3:1049665..1052589-chr3:1054165..1056315,2 | K562 | blood: | |
12 | chr3:762317..764340-chr3:779905..782757,2 | K562 | blood: | |
13 | chr3:1271635..1273502-chr3:1276225..1279196,2 | K562 | blood: | |
14 | chr3:746367..749271-chr3:749542..752426,2 | K562 | blood: | |
15 | chr3:1233578..1235618-chr3:1243417..1246040,2 | K562 | blood: | |
16 | chr20:14175439..14177996-chr3:730394..733241,2 | MCF-7 | breast: | |
17 | chr21:9533639..9536328-chr3:614645..617390,2 | MCF-7 | breast: | |
18 | chr3:1089175..1092606-chr3:1092889..1096075,3 | K562 | blood: | |
19 | chr3:1123403..1124144-chr3:2029373..2030343,3 | MCF-7 | breast: | |
20 | chr3:762317..764340-chr3:779905..782757,2 | K562 | blood: | |
21 | chr3:1089175..1092606-chr3:1092889..1096075,3 | K562 | blood: | |
22 | chr3:1183195..1185033-chr3:1185128..1187712,2 | MCF-7 | breast: | |
23 | chr21:9517250..9519290-chr3:632442..635070,2 | MCF-7 | breast: | |
24 | chr3:674217..674800-chr3:1123463..1123990,2 | MCF-7 | breast: | |
25 | chr3:1233578..1235618-chr3:1243417..1246040,2 | K562 | blood: | |
26 | chr20:19743891..19744638-chr3:1326228..1327123,2 | MCF-7 | breast: | |
27 | chr3:943774..944505-chr3:1390119..1390838,2 | MCF-7 | breast: | |
28 | chr3:1091106..1092914-chr3:1094575..1097571,2 | K562 | blood: | |
29 | chr3:844122..846364-chr3:847958..849773,2 | K562 | blood: | |
30 | chr3:731301..733205-chr3:733252..736265,3 | K562 | blood: | |
31 | chr3:726576..727076-chr3:11025934..11026463,2 | MCF-7 | breast: | |
32 | chr3:1185425..1187107-chr3:1188609..1190735,2 | K562 | blood: | |
33 | chr3:751166..753010-chr3:765105..767568,2 | K562 | blood: | |
34 | chr3:829999..831597-chr3:832456..834541,2 | MCF-7 | breast: | |
35 | chr3:1123458..1124156-chr3:2755562..2756408,3 | MCF-7 | breast: | |
36 | chr21:9537493..9539688-chr3:612236..614804,2 | MCF-7 | breast: | |
37 | chr3:805612..808013-chr3:811141..813375,2 | K562 | blood: | |
38 | chr3:805612..808013-chr3:811141..813375,2 | K562 | blood: | |
39 | chr3:731301..733205-chr3:733252..736265,3 | K562 | blood: | |
40 | chr3:1183195..1185033-chr3:1185128..1187712,2 | MCF-7 | breast: | |
41 | chr3:844122..846364-chr3:847958..849773,2 | K562 | blood: | |
42 | chr3:703062..705164-chr3:828470..830008,2 | K562 | blood: | |
43 | chr3:829999..831597-chr3:832456..834541,2 | MCF-7 | breast: | |
44 | chr3:1017513..1019704-chr9:130832900..130835546,2 | MCF-7 | breast: | |
45 | chr3:674217..674800-chr3:1123463..1123990,2 | MCF-7 | breast: | |
46 | chr3:1271635..1274308-chr3:1276225..1277746,2 | K562 | blood: | |
47 | chr3:522873..523625-chr3:674344..674995,2 | MCF-7 | breast: | |
48 | chr3:1043997..1046659-chr3:1048163..1050652,2 | K562 | blood: | |
49 | chr3:709932..711493-chr3:712317..715172,2 | K562 | blood: | |
50 | chr12:51631069..51633376-chr3:1005382..1008189,2 | MCF-7 | breast: |
(count:20 , 50 per page) page:
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-CNTN6-2 | chr3:899428-900630 | NONHSAT087575 |
2 | lnc-CHL1-3 | chr3:791898-791933 | ENSG00000224957 |
3 | lnc-CNTN6-2 | chr3:898807-898956 | XLOC_002565 |
4 | lnc-CHL1-3 | chr3:633788-633866 | ENSG00000224957 |
5 | lnc-CHL1-3 | chr3:882398-882493 | NR_110118 |
6 | lnc-CHL1-3 | chr3:791898-791933 | NR_110118 |
7 | lnc-CHL1-3 | chr3:884059-884327 | ENSG00000224957 |
8 | lnc-IL5RA-13 | chr3:1107266-1107559 | NONHSAT087577 |
9 | lnc-CNTN6-1 | chr3:1049819-1049950 | XLOC_002566 |
10 | lnc-CHL1-3 | chr3:868690-868816 | ENSG00000224957 |
11 | lnc-IL5RA-14 | chr3:659472-659997 | NONHSAT087571 |
12 | lnc-CHL1-6 | chr3:608788-608866 | ucscGeneNc_uc003boy_1 |
13 | lnc-CNTN6-1 | chr3:1051052-1054618 | XLOC_002566 |
14 | lnc-CHL1-6 | chr3:857398-857493 | ucscGeneNc_uc003boy_1 |
15 | lnc-CNTN6-2 | chr3:899428-899774 | XLOC_002565 |
16 | lnc-CHL1-6 | chr3:859059-862698 | ucscGeneNc_uc003boy_1 |
17 | lnc-CHL1-3 | chr3:633788-633866 | NR_110118 |
18 | lnc-CHL1-3 | chr3:884059-887698 | NR_110118 |
19 | lnc-CNTN6-2 | chr3:898848-898956 | NONHSAT087575 |
20 | lnc-CHL1-6 | chr3:766898-766933 | ucscGeneNc_uc003boy_1 |
No data |
No data |
Variant related genes | Relation type |
---|---|
RN7SL120P | TF binding region |
CNTN6 | TF binding region |
ENSG00000235158 | TF binding region |
ENSG00000224239 | TF binding region |
ENSG00000238075 | TF binding region |
RN7SL120P | CpG island |
CNTN6 | CpG island |
ENSG00000235158 | CpG island |
ENSG00000224239 | CpG island |
ENSG00000238075 | CpG island |
ENSG00000183283 | chromatin interactions |
ENSG00000235158 | chromatin interactions |
HIF1A | miRNA target sites |
CPEB4 | miRNA target sites |
COPS7A | miRNA target sites |
IL10 | miRNA target sites |
DCBLD2 | miRNA target sites |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs538224875 | chr3:594304-594305 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs527941810 | chr3:594318-594319 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs572217998 | chr3:594337-594338 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs556708049 | chr3:594341-594342 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs148525591 | chr3:594357-594358 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs545224693 | chr3:594408-594409 | Enhancers Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs553966656 | chr3:594427-594428 | Enhancers Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs114928618 | chr3:594489-594490 | Enhancers Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs73095109 | chr3:594529-594530 | Enhancers Weak transcription Strong transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
10 | rs561212841 | chr3:594538-594539 | Enhancers Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs531224448 | chr3:594549-594550 | Enhancers Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs193292065 | chr3:594601-594602 | Weak transcription Strong transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs80105338 | chr3:594608-594609 | Weak transcription Strong transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs575658529 | chr3:594613-594614 | Weak transcription Strong transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs182373657 | chr3:594635-594636 | Weak transcription Strong transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs547083707 | chr3:594672-594673 | Weak transcription Strong transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs566772689 | chr3:594691-594692 | Weak transcription Strong transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs527866440 | chr3:594714-594715 | Weak transcription Strong transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs369940464 | chr3:594772-594773 | Weak transcription Strong transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs531700681 | chr3:594786-594787 | Weak transcription Strong transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs549902762 | chr3:594827-594828 | Weak transcription Strong transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs187869346 | chr3:594835-594836 | Weak transcription Strong transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs1484529 | chr3:594868-594869 | Weak transcription Strong transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs192608789 | chr3:594875-594876 | Weak transcription Strong transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs145358101 | chr3:594880-594881 | Weak transcription Strong transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs184233151 | chr3:594890-594891 | Weak transcription Strong transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs550148941 | chr3:594904-594905 | Weak transcription Strong transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs147233610 | chr3:594952-594953 | Weak transcription Strong transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs372477160 | chr3:594983-594984 | Weak transcription Strong transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs539176370 | chr3:595024-595025 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs140711165 | chr3:595092-595093 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs572174741 | chr3:595125-595126 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs73095110 | chr3:595129-595130 | Weak transcription Strong transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
34 | rs374116558 | chr3:595146-595147 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs554590437 | chr3:595202-595203 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs576240961 | chr3:595233-595234 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs13327437 | chr3:595236-595237 | Weak transcription Strong transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
38 | rs116912571 | chr3:595248-595249 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs188806095 | chr3:595250-595251 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs116028892 | chr3:595259-595260 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs540758373 | chr3:595285-595286 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs376550307 | chr3:595293-595294 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs559010430 | chr3:595317-595318 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs532081317 | chr3:595340-595341 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs527897284 | chr3:595350-595351 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs547557865 | chr3:595372-595373 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs192067134 | chr3:595393-595394 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs561424134 | chr3:595406-595407 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs145318405 | chr3:595467-595468 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs147637606 | chr3:595517-595518 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Cancer | 20164920 | CNVD |
Lung cancer | 16618734 | CNVD |
Autism | 18349135 | CNVD |
Breast cancer | 20409316 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Autism | 22241247 | CNVD |
Intellectual disability | 22045946 | CNVD |
Squamous cell cancer | 19607727 | CNVD |
Gastric adenocarcinoma | 19115996 | CNVD |
sporadic birth defects | 19047251 | CNVD |
Mental retardation | 17124404 | CNVD |
abnormal development | 18461090 | CNVD |
Oral squamous cell carcinoma | 17134496 | CNVD |
Sudden cardiac death | 19188705 | CNVD |
Myeloproliferative neoplasm | 20015882 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Acute lymphoblastic leukemia | 21339820 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Ovarian cancer | 21720365 | CNVD |
Neuroblastoma | 18923191 | CNVD |
Papillary thyroid carcinoma | 21436994 | CNVD |
Biliary cancer | 19435499 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Esophageal squamous carcinoma | 18405350 | CNVD |
Breast cancer | 17603634 | CNVD |
Neuroblastoma | 17327916 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Colorectal cancer | 21297112 | CNVD |
Lynch syndrome | 18415027 | CNVD |
Renal cell carcinoma | 18592004 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Urothelial carcinoma | 18382360 | CNVD |
Melanoma | 18172304 | CNVD |
Cervical cancer | 21062161 | CNVD |
Hirschsprung''s Disease | 21712996 | CNVD |
head and neck squamous cell carcinoma | 17671120 | CNVD |
Insulin resistance | 16721378 | CNVD |
Neuroblastoma | 18664255 | CNVD |
Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
Multiple myeloma | 17077331 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Neuroblastoma | 21484798 | CNVD |
Non-small cell lung cancer | 21044232 | CNVD |
Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
Oral cancer | 19627613 | CNVD |
Renal cell carcinoma | 19461508 | CNVD |
Epithelial cancer | 22065749 | CNVD |
Acute lymphoblastic leukemia | 21390130 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Liposarcoma | 21253554 | CNVD |
Basal cell lymphoma | 21115979 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Pancreatic endocrine tumor | 20981439 | CNVD |
Astrocytoma | 17387387 | CNVD |
Breast cancer | 21264507 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 17387387 | CNVD |
Oral cancer | 21386901 | CNVD |
Cutaneous squamous cell carcinomas | 19131950 | CNVD |
Basal cell lymphoma | 17053054 | CNVD |
Esophageal cancer | 21851588 | CNVD |
Uveal melanoma | 21693616 | CNVD |
Retinoblastoma | 21504564 | CNVD |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Breast cancer | 21364760 | CNVD |
Schizophrenia | 20967226 | CNVD |
Autism | 22543975 | CNVD |
Attention deficit hyperactivity disorder | 19546859 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Non-syndromic sensorineural hearing loss | 17289997 | CNVD |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Renal cell carcinoma | 21668985 | CNVD |
Tetralogy of Fallot | 22912587 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Autism | 20685689 | CNVD |
Multiple myeloma | 17550852 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
early-passage human iPS cells | 21368824 | CNVD |
Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
Lung cancer | 20668451 | CNVD |
Breast cancer | 20668451 | CNVD |
Cancer | 20668451 | CNVD |
Ovarian cancer | 20668451 | CNVD |
Pancreas cancer | 20668451 | CNVD |
Prostate cancer | 20668451 | CNVD |
Autism | 22495311 | CNVD |
Cancer | 20164919 | CNVD |
Bipolar disorder | 19114987 | CNVD |
Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
Lung cancer | 18438408 | CNVD |
Breast cancer | 22522925 | CNVD |
Rectal cancer | 20877625 | CNVD |
cervicovaginal lavage | 20877625 | CNVD |
Melanoma | 20877625 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr3:590600-594400 | Weak transcription | Fetal Muscle Leg | muscle |
2 | chr3:590600-595600 | Weak transcription | Fetal Muscle Trunk | muscle |
3 | chr3:593800-595000 | Enhancers | Hela-S3 | cervix |
4 | chr3:594400-594600 | Enhancers | Aorta | Aorta |
5 | chr3:594400-597200 | Strong transcription | Fetal Muscle Leg | muscle |
6 | chr3:594600-607600 | Weak transcription | Aorta | Aorta |
7 | chr3:595600-597000 | Strong transcription | Fetal Muscle Trunk | muscle |
8 | chr3:597000-598600 | Weak transcription | Fetal Muscle Trunk | muscle |
9 | chr3:597200-602600 | Weak transcription | Fetal Muscle Leg | muscle |
10 | chr3:599200-599400 | Enhancers | GM12878-XiMat | blood |
11 | chr3:599400-599800 | Flanking Active TSS | GM12878-XiMat | blood |
12 | chr3:599800-600600 | Enhancers | GM12878-XiMat | blood |
13 | chr3:602600-603200 | Enhancers | Fetal Muscle Leg | muscle |
14 | chr3:602800-603000 | Enhancers | Fetal Brain Male | brain |
15 | chr3:603000-606000 | Weak transcription | Fetal Brain Male | brain |
16 | chr3:603200-603400 | Weak transcription | Fetal Muscle Leg | muscle |
17 | chr3:606000-607000 | Enhancers | Fetal Brain Male | brain |
18 | chr3:607000-610000 | Weak transcription | Fetal Brain Male | brain |
19 | chr3:607600-608400 | Enhancers | Aorta | Aorta |
20 | chr3:608800-610600 | Enhancers | Brain Germinal Matrix | brain |
21 | chr3:610000-611200 | Enhancers | Fetal Brain Male | brain |
22 | chr3:610200-610600 | Enhancers | Ovary | ovary |
23 | chr3:611200-612400 | Weak transcription | Fetal Brain Male | brain |
24 | chr3:612600-612800 | Enhancers | Fetal Brain Male | brain |
25 | chr3:636400-642600 | Enhancers | Hela-S3 | cervix |
26 | chr3:639200-639800 | Enhancers | Dnd41 | blood |
27 | chr3:649000-650000 | Enhancers | Hela-S3 | cervix |
28 | chr3:649200-650200 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
29 | chr3:659600-660000 | Active TSS | Spleen | Spleen |
30 | chr3:663600-664000 | Enhancers | Fetal Brain Male | brain |
31 | chr3:674200-674800 | Enhancers | Brain Substantia Nigra | brain |
32 | chr3:674200-675000 | Enhancers | Hela-S3 | cervix |
33 | chr3:675800-676400 | Enhancers | Fetal Thymus | thymus |
34 | chr3:682800-683200 | Enhancers | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
35 | chr3:684800-685200 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
36 | chr3:697200-697600 | Enhancers | Hela-S3 | cervix |
37 | chr3:703200-703400 | Enhancers | Pancreatic Islets | Pancreatic Islet |
38 | chr3:703400-703800 | Flanking Active TSS | Pancreatic Islets | Pancreatic Islet |
39 | chr3:706200-708000 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
40 | chr3:715600-716600 | Enhancers | Fetal Brain Male | brain |
41 | chr3:716600-717800 | Weak transcription | Fetal Brain Male | brain |
42 | chr3:718000-718200 | Enhancers | Fetal Brain Male | brain |
43 | chr3:722800-723800 | Enhancers | Hela-S3 | cervix |
44 | chr3:723800-724400 | Weak transcription | Hela-S3 | cervix |
45 | chr3:724400-724600 | Enhancers | Hela-S3 | cervix |
46 | chr3:727000-727200 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
47 | chr3:729000-729400 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
48 | chr3:730600-732600 | Weak transcription | Fetal Muscle Trunk | muscle |
49 | chr3:732000-732800 | ZNF genes & repeats | Aorta | Aorta |
50 | chr3:732200-732400 | ZNF genes & repeats | H1 Derived Mesenchymal Stem Cells | ES cell derived |