Variant report
Variant | nsv1004602 |
---|---|
Chromosome Location | chr3:19031671-19930052 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:3758)
- CpG islands (count:2570)
- Chromatin interactive region (count:98)
- LncRNA region (count:7)
- Mature miRNA region (count: 1)
- miRNA target sites (count:2)
No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | ARID3A | chr3:19908154-19908565 | K562 | blood: | n/a | n/a |
2 | ARID3A | chr3:19853257-19853541 | K562 | blood: | n/a | n/a |
3 | ARID3A | chr3:19838885-19838997 | K562 | blood: | n/a | n/a |
4 | ARID3A | chr3:19926931-19927205 | K562 | blood: | n/a | n/a |
5 | ATF1 | chr3:19260538-19260668 | K562 | blood: | n/a | n/a |
6 | ATF1 | chr3:19409997-19410011 | K562 | blood: | n/a | n/a |
7 | ATF1 | chr3:19309887-19310057 | K562 | blood: | n/a | n/a |
8 | ATF1 | chr3:19785640-19785860 | K562 | blood: | n/a | n/a |
9 | ATF1 | chr3:19325579-19325589 | K562 | blood: | n/a | n/a |
10 | ATF2 | chr3:19686532-19687019 | GM12878 | blood: | n/a | n/a |
11 | ATF2 | chr3:19601146-19601590 | GM12878 | blood: | n/a | n/a |
12 | ATF2 | chr3:19580877-19582458 | GM12878 | blood: | n/a | n/a |
13 | ATF2 | chr3:19640384-19640732 | GM12878 | blood: | n/a | n/a |
14 | ATF2 | chr3:19232052-19232516 | GM12878 | blood: | n/a | n/a |
15 | ATF2 | chr3:19686507-19687102 | GM12878 | blood: | n/a | n/a |
16 | ATF2 | chr3:19581327-19581963 | GM12878 | blood: | n/a | n/a |
17 | ATF2 | chr3:19601108-19601992 | GM12878 | blood: | n/a | n/a |
18 | ATF2 | chr3:19640324-19640769 | GM12878 | blood: | n/a | n/a |
19 | ATF2 | chr3:19188556-19188999 | H1-hESC | embryonic stem cell: | n/a | n/a |
20 | ATF2 | chr3:19584169-19584688 | GM12878 | blood: | n/a | n/a |
21 | ATF2 | chr3:19426308-19426774 | GM12878 | blood: | n/a | n/a |
22 | ATF2 | chr3:19403701-19404244 | GM12878 | blood: | n/a | n/a |
23 | ATF3 | chr3:19908260-19908576 | K562 | blood: | n/a | n/a |
24 | BACH1 | chr3:19686696-19686986 | H1-hESC | embryonic stem cell: | n/a | chr3:19686699-19686713 |
25 | BACH1 | chr3:19752946-19753205 | H1-hESC | embryonic stem cell: | n/a | n/a |
26 | BACH1 | chr3:19187912-19189751 | H1-hESC | embryonic stem cell: | n/a | n/a |
27 | BACH1 | chr3:19853360-19853374 | K562 | blood: | n/a | n/a |
28 | BATF | chr3:19403727-19403944 | GM12878 | blood: | n/a | n/a |
29 | BATF | chr3:19640383-19640708 | GM12878 | blood: | n/a | n/a |
30 | BATF | chr3:19092919-19093139 | GM12878 | blood: | n/a | chr3:19093036-19093047 |
31 | BATF | chr3:19811274-19811475 | GM12878 | blood: | n/a | n/a |
32 | BATF | chr3:19640369-19640789 | GM12878 | blood: | n/a | n/a |
33 | BATF | chr3:19232024-19232436 | GM12878 | blood: | n/a | n/a |
34 | BATF | chr3:19811248-19811473 | GM12878 | blood: | n/a | n/a |
35 | BATF | chr3:19581956-19582329 | GM12878 | blood: | n/a | chr3:19582154-19582165 |
36 | BATF | chr3:19686580-19687040 | GM12878 | blood: | n/a | chr3:19686837-19686848 |
37 | BATF | chr3:19232128-19232363 | GM12878 | blood: | n/a | n/a |
38 | BATF | chr3:19754546-19754789 | GM12878 | blood: | n/a | chr3:19754677-19754688 |
39 | BATF | chr3:19550247-19550451 | GM12878 | blood: | n/a | chr3:19550306-19550317 |
40 | BATF | chr3:19686760-19686968 | GM12878 | blood: | n/a | chr3:19686837-19686848 |
41 | BATF | chr3:19403720-19404006 | GM12878 | blood: | n/a | n/a |
42 | BATF | chr3:19582043-19582307 | GM12878 | blood: | n/a | chr3:19582154-19582165 |
43 | BCL11A | chr3:19403738-19404052 | GM12878 | blood: | n/a | n/a |
44 | BCL11A | chr3:19638004-19638237 | GM12878 | blood: | n/a | n/a |
45 | BCL11A | chr3:19601229-19601543 | GM12878 | blood: | n/a | chr3:19601271-19601280 |
46 | BCL11A | chr3:19811218-19811466 | GM12878 | blood: | n/a | n/a |
47 | BCL11A | chr3:19686637-19687019 | GM12878 | blood: | n/a | n/a |
48 | BCL11A | chr3:19232101-19232383 | GM12878 | blood: | n/a | n/a |
49 | BCL3 | chr3:19131621-19131955 | GM12878 | blood: | n/a | n/a |
50 | BCLAF1 | chr3:19581106-19582443 | GM12878 | blood: | n/a | chr3:19582158-19582167 chr3:19581707-19581716 chr3:19582157-19582166 |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr3:19576826-19576876 | ECC-1 | luminal epithelium: | n/a |
2 | chr3:19275812-19275862 | AoSMC | blood vessel: | n/a |
3 | chr3:19335138-19335188 | NHBE | bronchial: | n/a |
4 | chr3:19191785-19191835 | ProgFib | skin: | n/a |
5 | chr3:19190202-19190252 | HIPEpiC | eye: | n/a |
6 | chr3:19144633-19144683 | Hela-S3 | cervix: | n/a |
7 | chr3:19189070-19189120 | SKMC | muscle: | n/a |
8 | chr3:19744061-19744111 | NB4 | blood: | n/a |
9 | chr3:19576826-19576876 | ECC-1 | luminal epithelium: | n/a |
10 | chr3:19275812-19275862 | AoSMC | blood vessel: | n/a |
11 | chr3:19335138-19335188 | NHBE | bronchial: | n/a |
12 | chr3:19191785-19191835 | ProgFib | skin: | n/a |
13 | chr3:19190202-19190252 | HIPEpiC | eye: | n/a |
14 | chr3:19144633-19144683 | Hela-S3 | cervix: | n/a |
15 | chr3:19189070-19189120 | SKMC | muscle: | n/a |
16 | chr3:19744061-19744111 | NB4 | blood: | n/a |
17 | chr3:19188740-19188790 | GM19239 | blood: | n/a |
18 | chr3:19850542-19850592 | Jurkat | blood: | n/a |
19 | chr3:19188909-19188959 | HEEpiC | esophagus: | n/a |
20 | chr3:19275812-19275862 | NHBE | bronchial: | n/a |
21 | chr3:19268469-19268519 | NB4 | blood: | n/a |
22 | chr3:19744061-19744111 | SK-N-SH_RA | brain: | n/a |
23 | chr3:19850542-19850592 | NH-A | brain: | n/a |
24 | chr3:19189751-19189801 | PANC-1 | pancreas: | n/a |
25 | chr3:19144633-19144683 | HAEpiC | amniotic membrane: | n/a |
26 | chr3:19189930-19189980 | ovcar-3 | ovarian: | n/a |
27 | chr3:19576826-19576876 | HNPCEpiC | eye: | n/a |
28 | chr3:19549017-19549067 | AG04450 | lung: | fetal |
29 | chr3:19850542-19850592 | BE2_C | brain: | n/a |
30 | chr3:19268469-19268519 | PFSK-1 | brain: | n/a |
31 | chr3:19791456-19791506 | AG10803 | skin: | n/a |
32 | chr3:19116330-19116380 | RPTEC | kidney: | n/a |
33 | chr3:19440409-19440459 | NH-A | brain: | n/a |
34 | chr3:19188414-19188464 | NHDF-neo | bronchial: | n/a |
35 | chr3:19389409-19389459 | AG10803 | skin: | n/a |
36 | chr3:19316990-19317040 | HRPEpiC | eye: | n/a |
37 | chr3:19189070-19189120 | CMK | blood: | n/a |
38 | chr3:19744061-19744111 | HEEpiC | esophagus: | n/a |
39 | chr3:19144569-19144619 | GM12878 | blood: | n/a |
40 | chr3:19144569-19144619 | U87 | brain: | n/a |
41 | chr3:19307629-19307679 | HPAEpiC | pulmonary alveolar: | n/a |
42 | chr3:19190202-19190252 | HEK293 | kidney: | embryo |
43 | chr3:19214779-19214829 | HCPEpiC | choroid plexus: | n/a |
44 | chr3:19188414-19188464 | HRCEpiC | kidney: | n/a |
45 | chr3:19186531-19186581 | AG10803 | skin: | n/a |
46 | chr3:19188414-19188464 | HRPEpiC | eye: | n/a |
47 | chr3:19189070-19189120 | HNPCEpiC | eye: | n/a |
48 | chr3:19189070-19189120 | Hela-S3 | cervix: | n/a |
49 | chr3:19515924-19515974 | K562 | blood: | n/a |
50 | chr3:19275812-19275862 | Jurkat | blood: | n/a |
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr3:19353897..19355847-chr3:19357448..19360229,2 | K562 | blood: | |
2 | chr3:17936078..17936595-chr3:19908226..19908883,2 | K562 | blood: | |
3 | chr3:19105973..19107638-chr3:19390145..19391106,4 | MCF-7 | breast: | |
4 | chr3:19105973..19107638-chr3:19390145..19391106,4 | MCF-7 | breast: | |
5 | chr3:19390558..19391094-chr3:19584541..19585367,2 | MCF-7 | breast: | |
6 | chr3:19926588..19927515-chr3:19942549..19943117,5 | MCF-7 | breast: | |
7 | chr3:19926681..19927540-chr3:20080667..20081886,4 | MCF-7 | breast: | |
8 | chr3:19173235..19177074-chr3:19186095..19188671,3 | K562 | blood: | |
9 | chr3:19390113..19391205-chr3:19584358..19585952,11 | MCF-7 | breast: | |
10 | chr3:19106403..19107061-chr3:19390358..19391130,2 | MCF-7 | breast: | |
11 | chr3:19225258..19227261-chr3:19230105..19232419,2 | K562 | blood: | |
12 | chr3:19185341..19187435-chr3:19187905..19189651,2 | MCF-7 | breast: | |
13 | chr3:19679630..19681949-chr3:19683459..19685004,2 | K562 | blood: | |
14 | chr3:19173946..19176413-chr3:19180560..19183509,2 | K562 | blood: | |
15 | chr3:19525585..19527422-chr3:19576707..19579689,2 | MCF-7 | breast: | |
16 | chr3:19489514..19491858-chr3:19516874..19519279,2 | K562 | blood: | |
17 | chr3:19179011..19181091-chr3:19184124..19186386,2 | K562 | blood: | |
18 | chr3:19926567..19927530-chr3:21592329..21593167,2 | MCF-7 | breast: | |
19 | chr3:19106403..19107061-chr3:19390358..19391130,2 | MCF-7 | breast: | |
20 | chr3:19186873..19188575-chr3:19190157..19191827,2 | MCF-7 | breast: | |
21 | chr3:19390558..19391094-chr3:19584541..19585367,2 | MCF-7 | breast: | |
22 | chr3:19188168..19190474-chr3:19988134..19989911,2 | MCF-7 | breast: | |
23 | chr3:19489514..19491858-chr3:19516874..19519279,2 | K562 | blood: | |
24 | chr3:19087867..19088435-chr3:19907906..19908471,2 | MCF-7 | breast: | |
25 | chr3:19216852..19218561-chr3:19219870..19222636,2 | K562 | blood: | |
26 | chr3:19179011..19181091-chr3:19184124..19186386,2 | K562 | blood: | |
27 | chr3:19185341..19187435-chr3:19187905..19189651,2 | MCF-7 | breast: | |
28 | chr3:19525585..19527422-chr3:19576707..19579689,2 | MCF-7 | breast: | |
29 | chr3:19925587..19927827-chr3:19934570..19937110,2 | MCF-7 | breast: | |
30 | chr3:19863239..19864953-chr3:20226349..20229139,2 | K562 | blood: | |
31 | chr3:19908798..19910478-chr3:19922117..19924794,2 | K562 | blood: | |
32 | chr3:19390433..19391079-chr3:19907967..19908843,4 | MCF-7 | breast: | |
33 | chr3:19908798..19910478-chr3:19922117..19924794,2 | K562 | blood: | |
34 | chr3:19866393..19868702-chr3:19871331..19874203,2 | K562 | blood: | |
35 | chr3:19094106..19095919-chr3:19104122..19105944,2 | K562 | blood: | |
36 | chr1:200367178..200368137-chr3:19907997..19908546,2 | MCF-7 | breast: | |
37 | chr3:19443170..19445320-chr3:19453492..19455526,2 | K562 | blood: | |
38 | chr3:16317176..16319617-chr3:19576040..19578450,2 | MCF-7 | breast: | |
39 | chr3:18889346..18892141-chr3:19030390..19031987,2 | MCF-7 | breast: | |
40 | chr3:19094106..19095919-chr3:19104122..19105944,2 | K562 | blood: | |
41 | chr3:19186809..19189745-chr3:19319779..19321476,2 | K562 | blood: | |
42 | chr3:19679630..19681949-chr3:19683459..19685004,2 | K562 | blood: | |
43 | chr3:19745768..19748356-chr3:19750935..19754447,3 | K562 | blood: | |
44 | chr3:19745768..19748356-chr3:19750935..19754447,3 | K562 | blood: | |
45 | chr3:19106302..19107287-chr3:19907999..19908895,3 | MCF-7 | breast: | |
46 | chr3:19926646..19927515-chr3:20080662..20081812,4 | K562 | blood: | |
47 | chr3:19254480..19256922-chr3:19986686..19989179,2 | K562 | blood: | |
48 | chr3:19186809..19189745-chr3:19319779..19321476,2 | K562 | blood: | |
49 | chr3:19829915..19832031-chr3:19834488..19836078,2 | K562 | blood: | |
50 | chr3:19389338..19390161-chr3:19907650..19908872,3 | MCF-7 | breast: |
(count:7 , 50 per page) page:
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-EFHB-1 | chr3:19729726-19729972 | XLOC_003064 |
2 | lnc-SATB1-1 | chr3:19050881-19050931 | XLOC_003063 |
3 | lnc-SATB1-1 | chr3:19053460-19053734 | XLOC_003063 |
4 | lnc-SATB1-1 | chr3:19045197-19045221 | XLOC_003063 |
5 | lnc-EFHB-1 | chr3:19717560-19717598 | XLOC_003064 |
6 | lnc-SATB1-1 | chr3:19053460-19053728 | XLOC_003063 |
7 | lnc-SATB1-1 | chr3:19050881-19050931 | XLOC_003063 |
miRNA name | Chromosome Location | mirBase accession |
---|---|---|
hsa-miR-4791 | chr3:19356399-19356416 | MIMAT0019963 |
(count:2 , 50 per page) page:
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No. | miRNA target gene | miRNA name | Chromosome Location | mirBase accession |
---|---|---|---|---|
1 | KCNH8 | hsa-miR-143-3p | chr3:19576050-19576073 | |
2 | KCNH8 | hsa-miR-143-3p | chr3:19576066-19576072 |
Variant related genes | Relation type |
---|---|
KCNH8 | TF binding region |
MIR4791 | TF binding region |
KCNH8 | CpG island |
MIR4791 | CpG island |
ENSG00000144566 | chromatin interactions |
ENSG00000201524 | chromatin interactions |
ENSG00000270739 | chromatin interactions |
ENSG00000129810 | chromatin interactions |
ENSG00000163576 | chromatin interactions |
ENSG00000162607 | chromatin interactions |
ENSG00000114166 | chromatin interactions |
ESYT1 | miRNA target sites |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs546284056 | chr3:19031686-19031687 | Weak transcription Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
2 | rs188188287 | chr3:19031702-19031703 | Weak transcription Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
3 | rs143258513 | chr3:19031713-19031714 | Weak transcription Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
4 | rs374324770 | chr3:19031721-19031722 | Weak transcription Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
5 | rs530951928 | chr3:19031729-19031730 | Weak transcription Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
6 | rs552349015 | chr3:19031742-19031743 | Weak transcription Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
7 | rs564607682 | chr3:19031806-19031807 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs76218766 | chr3:19031858-19031859 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs547162341 | chr3:19031872-19031873 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs201453058 | chr3:19031874-19031875 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs78953008 | chr3:19031875-19031876 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs72625821 | chr3:19031876-19031877 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs568703606 | chr3:19031887-19031888 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs536133389 | chr3:19031930-19031931 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs554314206 | chr3:19031964-19031965 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs371641150 | chr3:19031976-19031977 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs551316197 | chr3:19032023-19032024 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs564565317 | chr3:19032037-19032038 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs111256327 | chr3:19032075-19032076 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs4973720 | chr3:19032076-19032077 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
21 | rs192752586 | chr3:19032081-19032082 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs576864508 | chr3:19032105-19032106 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs9310587 | chr3:19032204-19032205 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs386396068 | chr3:19032205-19032206 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs60017498 | chr3:19032221-19032222 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs200713157 | chr3:19032251-19032252 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs184224895 | chr3:19032253-19032254 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs552728974 | chr3:19032264-19032265 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs369870214 | chr3:19032325-19032326 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs536982260 | chr3:19032385-19032386 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs565381844 | chr3:19032406-19032407 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs550282059 | chr3:19032410-19032411 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs188942860 | chr3:19032443-19032444 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs181689077 | chr3:19032449-19032450 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs556851881 | chr3:19032458-19032459 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs184660764 | chr3:19032471-19032472 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs575502682 | chr3:19032473-19032474 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs546175562 | chr3:19032512-19032513 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs145483874 | chr3:19032533-19032534 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs190510772 | chr3:19032604-19032605 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs547142641 | chr3:19032619-19032620 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs562232536 | chr3:19032629-19032630 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs529525173 | chr3:19032668-19032669 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs551252787 | chr3:19032760-19032761 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs569533658 | chr3:19032764-19032765 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs148392511 | chr3:19032849-19032850 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
47 | rs550014318 | chr3:19032919-19032920 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
48 | rs552137600 | chr3:19032926-19032927 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
49 | rs142466116 | chr3:19032930-19032931 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
50 | rs180809119 | chr3:19033008-19033009 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Medulloblastoma | 21979893 | CNVD |
Esophageal squamous carcinoma | 18405350 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Breast cancer | 17603634 | CNVD |
Neuroblastoma | 17327916 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Neuroblastoma | 18923191 | 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 |
Oral squamous cell carcinoma | 17134496 | 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 |
lymphocytic leukemia | 21291569 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Renal cell carcinoma | 21668985 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Lung cancer | 20668451 | CNVD |
Breast cancer | 20668451 | CNVD |
Cancer | 20668451 | CNVD |
Ovarian cancer | 20668451 | CNVD |
Pancreas cancer | 20668451 | CNVD |
Prostate cancer | 20668451 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Lung cancer | 18438408 | CNVD |
Intellectual disability | 22102821 | CNVD |
Esophageal cancer | 20955586 | CNVD |
Myeloproliferative neoplasm | 20015882 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Myofibroblastic sarcoma | 19369631 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Gastric adenocarcinoma | 19115996 | CNVD |
Squamous cell cancer | 20885788 | CNVD |
Esophageal squamous carcinoma | 17470683 | CNVD |
Breast cancer | 17133270 | CNVD |
Developmental delay | 21147756 | CNVD |
Uveal melanoma | 20484589 | CNVD |
Bipolar disorder | 19114987 | CNVD |
Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
Autism | 20531469 | CNVD |
Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Breast cancer | 22522925 | CNVD |
Williams Syndrome | 20824207 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
Autism | 22495311 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr3:19025400-19032200 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
2 | chr3:19028400-19034400 | Weak transcription | Brain Germinal Matrix | brain |
3 | chr3:19029600-19031800 | Flanking Active TSS | Primary T cells from cord blood | blood |
4 | chr3:19030200-19032200 | Weak transcription | iPS-18 Cell Line | embryonic stem cell |
5 | chr3:19030400-19033600 | Enhancers | HUES48 Cell Line | embryonic stem cell |
6 | chr3:19030600-19031800 | Weak transcription | HUES64 Cell Line | embryonic stem cell |
7 | chr3:19030600-19032200 | Weak transcription | iPS-15b Cell Line | embryonic stem cell |
8 | chr3:19030600-19032200 | Enhancers | Fetal Thymus | thymus |
9 | chr3:19030800-19034800 | Enhancers | HUES6 Cell Line | embryonic stem cell |
10 | chr3:19031000-19031800 | Enhancers | Thymus | Thymus |
11 | chr3:19031200-19034400 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
12 | chr3:19031800-19032600 | Enhancers | Primary T cells from cord blood | blood |
13 | chr3:19031800-19035200 | Enhancers | HUES64 Cell Line | embryonic stem cell |
14 | chr3:19032000-19032200 | Enhancers | H1 Cell Line | embryonic stem cell |
15 | chr3:19032200-19032400 | Enhancers | ES-WA7 Cell Line | embryonic stem cell |
16 | chr3:19032200-19032800 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
17 | chr3:19032200-19034800 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
18 | chr3:19032200-19035200 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
19 | chr3:19032400-19033600 | Weak transcription | ES-WA7 Cell Line | embryonic stem cell |
20 | chr3:19032400-19034600 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
21 | chr3:19032800-19033200 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
22 | chr3:19033200-19033600 | Weak transcription | H9 Cell Line | embryonic stem cell |
23 | chr3:19033200-19034800 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
24 | chr3:19033400-19034800 | Enhancers | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
25 | chr3:19033600-19034200 | Enhancers | ES-WA7 Cell Line | embryonic stem cell |
26 | chr3:19033600-19034400 | Flanking Active TSS | HUES48 Cell Line | embryonic stem cell |
27 | chr3:19033600-19035000 | Enhancers | H9 Cell Line | embryonic stem cell |
28 | chr3:19034400-19034600 | Enhancers | HUES48 Cell Line | embryonic stem cell |
29 | chr3:19034400-19034800 | Flanking Active TSS | iPS-20b Cell Line | embryonic stem cell |
30 | chr3:19034400-19035000 | Enhancers | Brain Germinal Matrix | brain |
31 | chr3:19034400-19035200 | Enhancers | H1 Cell Line | embryonic stem cell |
32 | chr3:19034600-19034800 | Flanking Active TSS | HUES48 Cell Line | embryonic stem cell |
33 | chr3:19034800-19035200 | Enhancers | HUES48 Cell Line | embryonic stem cell |
34 | chr3:19034800-19036000 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
35 | chr3:19034800-19036000 | Weak transcription | HUES6 Cell Line | embryonic stem cell |
36 | chr3:19036000-19037600 | ZNF genes & repeats | ES-I3 Cell Line | embryonic stem cell |
37 | chr3:19036000-19037800 | ZNF genes & repeats | HUES6 Cell Line | embryonic stem cell |
38 | chr3:19037200-19037800 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
39 | chr3:19037600-19037800 | ZNF genes & repeats | H1 Cell Line | embryonic stem cell |
40 | chr3:19038800-19039000 | Enhancers | Fetal Heart | heart |
41 | chr3:19039000-19039400 | Flanking Active TSS | Fetal Heart | heart |
42 | chr3:19039400-19044600 | Enhancers | Fetal Heart | heart |
43 | chr3:19042200-19042600 | Enhancers | H9 Cell Line | embryonic stem cell |
44 | chr3:19042800-19045200 | Enhancers | Fetal Muscle Leg | muscle |
45 | chr3:19043600-19043800 | Enhancers | Colon Smooth Muscle | Colon |
46 | chr3:19044000-19045200 | Enhancers | Brain Germinal Matrix | brain |
47 | chr3:19044400-19044600 | Enhancers | Colon Smooth Muscle | Colon |
48 | chr3:19044600-19045000 | Flanking Active TSS | Fetal Heart | heart |
49 | chr3:19044800-19045200 | Enhancers | Ovary | ovary |
50 | chr3:19045000-19045400 | Enhancers | Fetal Heart | heart |