Variant report
Variant | esv2759122 |
---|---|
Chromosome Location | chr3:71156-798503 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:3184)
- CpG islands (count:2629)
- Chromatin interactive region (count:87)
- LncRNA region (count:60)
- Mature miRNA region (count: 0)
- miRNA target sites (count:3)
No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | ARID3A | chr3:534692-534822 | HepG2 | liver: | n/a | n/a |
2 | ARID3A | chr3:418748-419094 | HepG2 | liver: | n/a | n/a |
3 | ARID3A | chr3:455772-456068 | HepG2 | liver: | n/a | chr3:455850-455866 |
4 | ARID3A | chr3:86873-86900 | HepG2 | liver: | n/a | n/a |
5 | ARID3A | chr3:84683-85432 | HepG2 | liver: | n/a | n/a |
6 | ARID3A | chr3:104725-105176 | HepG2 | liver: | n/a | n/a |
7 | ARID3A | chr3:291259-291870 | HepG2 | liver: | n/a | n/a |
8 | ARID3A | chr3:305517-307368 | HepG2 | liver: | n/a | n/a |
9 | ATF1 | chr3:128118-128267 | K562 | blood: | n/a | n/a |
10 | ATF2 | chr3:319964-320748 | GM12878 | blood: | n/a | n/a |
11 | ATF2 | chr3:254017-254518 | GM12878 | blood: | n/a | n/a |
12 | ATF2 | chr3:331761-332103 | GM12878 | blood: | n/a | n/a |
13 | ATF2 | chr3:319829-320847 | GM12878 | blood: | n/a | n/a |
14 | ATF2 | chr3:254098-254530 | GM12878 | blood: | n/a | n/a |
15 | ATF3 | chr3:306304-306760 | A549 | lung: | n/a | n/a |
16 | BACH1 | chr3:541423-541496 | H1-hESC | embryonic stem cell: | n/a | n/a |
17 | BACH1 | chr3:271174-271333 | K562 | blood: | n/a | n/a |
18 | BACH1 | chr3:165624-165661 | H1-hESC | embryonic stem cell: | n/a | n/a |
19 | BACH1 | chr3:516562-516874 | H1-hESC | embryonic stem cell: | n/a | n/a |
20 | BACH1 | chr3:238302-238499 | H1-hESC | embryonic stem cell: | n/a | n/a |
21 | BACH1 | chr3:238826-240389 | H1-hESC | embryonic stem cell: | n/a | n/a |
22 | BACH1 | chr3:577662-577951 | H1-hESC | embryonic stem cell: | n/a | n/a |
23 | BATF | chr3:599789-600089 | GM12878 | blood: | n/a | chr3:599953-599962 |
24 | BATF | chr3:166561-166841 | GM12878 | blood: | n/a | chr3:166679-166690 chr3:166653-166662 |
25 | BATF | chr3:462357-462600 | GM12878 | blood: | n/a | chr3:462485-462494 |
26 | BATF | chr3:259675-259847 | GM12878 | blood: | n/a | n/a |
27 | BATF | chr3:515014-515376 | GM12878 | blood: | n/a | chr3:515252-515263 |
28 | BATF | chr3:254085-254416 | GM12878 | blood: | n/a | n/a |
29 | BATF | chr3:319906-320293 | GM12878 | blood: | n/a | n/a |
30 | BATF | chr3:505464-505768 | GM12878 | blood: | n/a | n/a |
31 | BATF | chr3:320384-320805 | GM12878 | blood: | n/a | n/a |
32 | BATF | chr3:638972-639242 | GM12878 | blood: | n/a | chr3:639093-639102 |
33 | BATF | chr3:599827-600084 | GM12878 | blood: | n/a | chr3:599953-599962 |
34 | BATF | chr3:462277-462661 | GM12878 | blood: | n/a | chr3:462485-462494 |
35 | BATF | chr3:166548-166773 | GM12878 | blood: | n/a | chr3:166679-166690 chr3:166653-166662 |
36 | BATF | chr3:319974-320310 | GM12878 | blood: | n/a | n/a |
37 | BATF | chr3:341729-341996 | GM12878 | blood: | n/a | n/a |
38 | BATF | chr3:515030-515408 | GM12878 | blood: | n/a | chr3:515252-515263 |
39 | BCL11A | chr3:319942-320280 | GM12878 | blood: | n/a | chr3:320201-320210 chr3:320061-320069 |
40 | BCL11A | chr3:319927-320341 | GM12878 | blood: | n/a | chr3:320201-320210 chr3:320061-320069 |
41 | BCL3 | chr3:306168-306863 | A549 | lung: | n/a | chr3:306285-306294 chr3:306282-306291 |
42 | BCL3 | chr3:320464-320727 | GM12878 | blood: | n/a | n/a |
43 | BCL3 | chr3:306315-306750 | A549 | lung: | n/a | n/a |
44 | BCLAF1 | chr3:599656-600200 | GM12878 | blood: | n/a | chr3:599779-599788 chr3:599826-599835 |
45 | BCLAF1 | chr3:320388-320763 | GM12878 | blood: | n/a | n/a |
46 | BHLHE40 | chr3:260829-261058 | GM12878 | blood: | n/a | n/a |
47 | BHLHE40 | chr3:152996-153196 | A549 | lung: | n/a | n/a |
48 | BHLHE40 | chr3:306286-306823 | HepG2 | liver: | n/a | n/a |
49 | BHLHE40 | chr3:543200-543216 | GM12878 | blood: | n/a | n/a |
50 | BHLHE40 | chr3:260263-260618 | GM12878 | blood: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr3:153242-153292 | K562 | blood: | n/a |
2 | chr3:271185-271235 | GM06990 | blood: | n/a |
3 | chr3:427757-427807 | MCF-7 | breast: | n/a |
4 | chr3:240139-240189 | HCT-116 | colon: | n/a |
5 | chr3:285234-285284 | U87 | brain: | n/a |
6 | chr3:153242-153292 | GM12892 | blood: | n/a |
7 | chr3:153242-153292 | K562 | blood: | n/a |
8 | chr3:271185-271235 | GM06990 | blood: | n/a |
9 | chr3:427757-427807 | MCF-7 | breast: | n/a |
10 | chr3:240139-240189 | HCT-116 | colon: | n/a |
11 | chr3:285234-285284 | U87 | brain: | n/a |
12 | chr3:153242-153292 | GM12892 | blood: | n/a |
13 | chr3:239733-239783 | HRE | kidney: | n/a |
14 | chr3:238615-238665 | AoSMC | blood vessel: | n/a |
15 | chr3:243996-244046 | PFSK-1 | brain: | n/a |
16 | chr3:238611-238661 | LNCaP | prostate: | n/a |
17 | chr3:501673-501723 | MCF-7 | breast: | n/a |
18 | chr3:239665-239715 | HAEpiC | amniotic membrane: | n/a |
19 | chr3:236078-236128 | NH-A | brain: | n/a |
20 | chr3:238618-238668 | RPTEC | kidney: | n/a |
21 | chr3:243996-244046 | Hepatocyte | liver: | n/a |
22 | chr3:577964-578014 | GM12892 | blood: | n/a |
23 | chr3:350602-350652 | GM12891 | blood: | n/a |
24 | chr3:240139-240189 | SK-N-SH | brain: | n/a |
25 | chr3:241182-241232 | HUVEC | blood vessel: | n/a |
26 | chr3:350789-350839 | HL-60 | blood: | n/a |
27 | chr3:239188-239238 | SK-N-MC | brain: | n/a |
28 | chr3:577821-577871 | Hepatocyte | liver: | n/a |
29 | chr3:238496-238546 | RPTEC | kidney: | n/a |
30 | chr3:238161-238211 | ovcar-3 | ovarian: | n/a |
31 | chr3:238318-238368 | HEK293 | kidney: | embryo |
32 | chr3:236078-236128 | GM12878 | blood: | n/a |
33 | chr3:271185-271235 | AG04449 | skin: | fetal |
34 | chr3:240139-240189 | HRCEpiC | kidney: | n/a |
35 | chr3:241182-241232 | HCM | heart: | n/a |
36 | chr3:239506-239556 | Jurkat | blood: | n/a |
37 | chr3:114243-114293 | HRPEpiC | eye: | n/a |
38 | chr3:447414-447464 | SK-N-SH_RA | brain: | n/a |
39 | chr3:239733-239783 | HEEpiC | esophagus: | n/a |
40 | chr3:238615-238665 | BJ | skin: | n/a |
41 | chr3:350892-350942 | AoSMC | blood vessel: | n/a |
42 | chr3:236078-236128 | NB4 | blood: | n/a |
43 | chr3:427558-427608 | HCF | heart: | n/a |
44 | chr3:114243-114293 | BE2_C | brain: | n/a |
45 | chr3:238392-238442 | HCPEpiC | choroid plexus: | n/a |
46 | chr3:153242-153292 | HRPEpiC | eye: | n/a |
47 | chr3:523012-523062 | K562 | blood: | n/a |
48 | chr3:577964-578014 | HNPCEpiC | eye: | n/a |
49 | chr3:238496-238546 | SK-N-SH_RA | brain: | n/a |
50 | chr3:427558-427608 | Jurkat | blood: | n/a |
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr3:571404..573075-chr3:573790..576325,2 | MCF-7 | breast: | |
2 | chr3:554700..557337-chr3:557649..560284,2 | K562 | blood: | |
3 | chr3:762317..764340-chr3:779905..782757,2 | K562 | blood: | |
4 | chr3:726576..727076-chr3:11025934..11026463,2 | MCF-7 | breast: | |
5 | chr3:512741..514299-chr3:528430..530623,2 | K562 | blood: | |
6 | chr2:137975660..137976445-chr3:388390..389053,2 | MCF-7 | breast: | |
7 | chr3:169328..170327-chr3:184848..185564,2 | MCF-7 | breast: | |
8 | chr3:84682..85249-chr3:418773..419384,2 | MCF-7 | breast: | |
9 | chr3:379607..381981-chr3:384960..386643,2 | K562 | blood: | |
10 | chr3:556350..557928-chr3:558208..559835,2 | MCF-7 | breast: | |
11 | chr3:762317..764340-chr3:779905..782757,2 | K562 | blood: | |
12 | chr3:188824..190368-chr3:386265..388997,2 | MCF-7 | breast: | |
13 | chr3:556350..557928-chr3:558208..559835,2 | MCF-7 | breast: | |
14 | chr3:383287..386050-chr3:389112..391059,2 | MCF-7 | breast: | |
15 | chr3:455533..456082-chr3:893341..894026,2 | MCF-7 | breast: | |
16 | chr3:291331..293955-chr3:294697..297452,2 | MCF-7 | breast: | |
17 | chr3:84468..85168-chr3:395782..396503,2 | MCF-7 | breast: | |
18 | chr11:73160067..73160822-chr3:118894..119482,2 | MCF-7 | breast: | |
19 | chr3:554700..557337-chr3:557649..560284,2 | K562 | blood: | |
20 | chr3:380749..382647-chr3:383286..385545,2 | MCF-7 | breast: | |
21 | chr3:731301..733205-chr3:733252..736265,3 | K562 | blood: | |
22 | chr3:86365..87356-chr3:395941..396726,2 | MCF-7 | breast: | |
23 | chr3:369627..372241-chr3:375088..376630,2 | K562 | blood: | |
24 | chr3:379607..381981-chr3:384960..386643,2 | K562 | blood: | |
25 | chr3:457571..459756-chr3:462210..465015,2 | K562 | blood: | |
26 | chr3:457571..459756-chr3:462210..465015,2 | K562 | blood: | |
27 | chr3:731301..733205-chr3:733252..736265,3 | K562 | blood: | |
28 | chr3:333238..334968-chr3:337821..339342,2 | MCF-7 | breast: | |
29 | chr3:131415..134151-chr3:136022..137906,2 | MCF-7 | breast: | |
30 | chr3:321596..323780-chr3:337949..340526,2 | MCF-7 | breast: | |
31 | chr3:522873..523625-chr3:674344..674995,2 | MCF-7 | breast: | |
32 | chr3:512741..514299-chr3:528430..530623,2 | K562 | blood: | |
33 | chr3:389768..391549-chr3:394844..396538,2 | MCF-7 | breast: | |
34 | chr3:565796..568589-chr3:571178..572728,2 | K562 | blood: | |
35 | chr3:131415..134151-chr3:136022..137906,2 | MCF-7 | breast: | |
36 | chr1:229050784..229051693-chr3:758018..758663,2 | MCF-7 | breast: | |
37 | chr12:101154422..101155178-chr3:753774..754622,2 | MCF-7 | breast: | |
38 | chr14:56081549..56082133-chr3:97763..98653,2 | MCF-7 | breast: | |
39 | chr3:522873..523625-chr3:674344..674995,2 | MCF-7 | breast: | |
40 | chr3:703062..705164-chr3:828470..830008,2 | K562 | blood: | |
41 | chr20:12921782..12922300-chr3:762237..762760,2 | MCF-7 | breast: | |
42 | chr3:291331..293955-chr3:294697..297452,2 | MCF-7 | breast: | |
43 | chr3:297411..299702-chr3:300779..302869,2 | K562 | blood: | |
44 | chr3:571404..573075-chr3:573790..576325,2 | MCF-7 | breast: | |
45 | chr3:323232..326179-chr3:404720..407065,2 | K562 | blood: | |
46 | chr3:188824..190368-chr3:386265..388997,2 | MCF-7 | breast: | |
47 | chr3:84119..86199-chr3:87586..89599,2 | K562 | blood: | |
48 | chr3:84468..85168-chr3:395782..396503,2 | MCF-7 | breast: | |
49 | chr3:163984..165661-chr3:172610..174560,2 | K562 | blood: | |
50 | chr3:389768..391549-chr3:394844..396538,2 | MCF-7 | breast: |
No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-IL5RA-6 | chr3:237679-237723 | ENSG00000224318.1 |
2 | lnc-CNTN6-7 | chr3:238454-238746 | NONHSAT087560 |
3 | lnc-CHL1-3 | chr3:577936-578010 | ENSG00000224957 |
4 | lnc-CHL1-1 | chr3:109310-109695 | XLOC_002563 |
5 | lnc-CHL1-1 | chr3:109401-109695 | XLOC_002563 |
6 | lnc-IL5RA-5 | chr3:405053-405706 | ENSG00000234661.1 |
7 | lnc-CNTN6-7 | chr3:254887-255362 | NONHSAT087562 |
8 | lnc-CHL1-3 | chr3:791898-791933 | NR_110118 |
9 | lnc-CNTN6-7 | chr3:286296-286375 | NONHSAT087560 |
10 | lnc-IL5RA-14 | chr3:659472-659997 | NONHSAT087571 |
11 | lnc-IL5RA-6 | chr3:237441-237597 | ENSG00000224318.1 |
12 | lnc-IL5RA-5 | chr3:427386-427478 | ENSG00000234661.1 |
13 | lnc-IL5RA-5 | chr3:415500-415735 | ENSG00000234661.2 |
14 | lnc-IL5RA-6 | chr3:237540-237597 | NONHSAT087559 |
15 | lnc-CHL1-3 | chr3:577941-579275 | NONHSAT087570 |
16 | lnc-IL5RA-6 | chr3:237679-237723 | ENSG00000224318.1 |
17 | lnc-IL5RA-16 | chr3:157540-157620 | NONHSAT087554 |
18 | lnc-CNTN6-7 | chr3:286296-286375 | NONHSAT087561 |
19 | lnc-CHL1-4 | chr3:84310-84695 | l_2300_chr3:84309-87048_testes |
20 | lnc-IL5RA-17 | chr3:147879-148034 | l_2301_chr3:147013-148034_heart |
21 | lnc-IL5RA-6 | chr3:238139-238191 | ENSG00000224318.1 |
22 | lnc-CNTN6-7 | chr3:288251-290282 | NONHSAT087561 |
23 | lnc-CHL1-1 | chr3:109310-109435 | XLOC_002563 |
24 | lnc-CHL1-4 | chr3:86531-87048 | l_2300_chr3:84309-87048_testes |
25 | lnc-IL5RA-6 | chr3:238139-238386 | NONHSAT087559 |
26 | lnc-IL5RA-6 | chr3:238139-238191 | ENSG00000224318.1 |
27 | lnc-IL5RA-7 | chr3:95031-95375 | XLOC_003014 |
28 | lnc-IL5RA-6 | chr3:238139-238191 | ENSG00000224318.1 |
29 | lnc-IL5RA-5 | chr3:405518-405706 | ENSG00000234661.2 |
30 | lnc-CHL1-6 | chr3:552914-553010 | ucscGeneNc_uc003boy_1 |
31 | lnc-IL5RA-15 | chr3:350397-351005 | NONHSAT087564 |
32 | lnc-IL5RA-16 | chr3:172879-173007 | NONHSAT087554 |
33 | lnc-CHL1-6 | chr3:766898-766933 | ucscGeneNc_uc003boy_1 |
34 | lnc-IL5RA-16 | chr3:157540-157624 | NONHSAT087555 |
35 | lnc-CHL1-3 | chr3:633788-633866 | NR_110118 |
36 | lnc-IL5RA-7 | chr3:95976-96029 | XLOC_003014 |
37 | lnc-IL5RA-16 | chr3:153927-154143 | NONHSAT087555 |
38 | lnc-CHL1-6 | chr3:608788-608866 | ucscGeneNc_uc003boy_1 |
39 | lnc-IL5RA-6 | chr3:238650-239024 | ENSG00000224318.1 |
40 | lnc-CHL1-1 | chr3:111531-111980 | XLOC_002563 |
41 | lnc-IL5RA-6 | chr3:238290-238542 | ENSG00000224318.1 |
42 | lnc-CHL1-1 | chr3:95888-96275 | XLOC_002563 |
43 | lnc-IL5RA-6 | chr3:237679-237723 | NONHSAT087559 |
44 | lnc-IL5RA-6 | chr3:237441-237597 | ENSG00000224318.1 |
45 | lnc-IL5RA-6 | chr3:238290-238385 | ENSG00000224318.1 |
46 | lnc-CNTN6-7 | chr3:239697-239775 | NONHSAT087562 |
47 | lnc-CNTN6-7 | chr3:239326-239775 | NONHSAT087561 |
48 | lnc-CHL1-1 | chr3:111531-111663 | XLOC_002563 |
49 | lnc-CHL1-1 | chr3:95888-96275 | XLOC_002563 |
50 | lnc-IL5RA-6 | chr3:237441-237597 | ENSG00000224318.1 |
No data |
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No. | miRNA target gene | miRNA name | Chromosome Location | mirBase accession |
---|---|---|---|---|
1 | CHL1 | hsa-miR-10a-5p | chr3:450185-450191 | |
2 | CHL1 | hsa-miR-181a-5p | chr3:448562-448584 | |
3 | CHL1 | hsa-miR-10a-5p | chr3:450171-450192 |
Variant related genes | Relation type |
---|---|
ENSG00000224957 | TF binding region |
RNU6-1194P | TF binding region |
RPS8P6 | TF binding region |
CHL1-AS1 | TF binding region |
ENSG00000224918 | TF binding region |
ENSG00000238075 | TF binding region |
CHL1 | TF binding region |
CHL1-AS2 | TF binding region |
ENSG00000224957 | CpG island |
RNU6-1194P | CpG island |
RPS8P6 | CpG island |
CHL1-AS1 | CpG island |
ENSG00000224918 | CpG island |
ENSG00000238075 | CpG island |
CHL1 | CpG island |
CHL1-AS2 | CpG island |
ENSG00000252017 | chromatin interactions |
ENSG00000234661 | chromatin interactions |
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 | rs545839864 | chr3:74419-74420 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs564053938 | chr3:74436-74437 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs528434641 | chr3:74460-74461 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs527773328 | chr3:74463-74464 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs568172730 | chr3:74503-74504 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs112795193 | chr3:74506-74507 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs187780632 | chr3:74513-74514 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs144312387 | chr3:74518-74519 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs537134807 | chr3:74523-74524 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs11128710 | chr3:74573-74574 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
11 | rs570508914 | chr3:74625-74626 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs534988229 | chr3:74628-74629 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs553590658 | chr3:74634-74635 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs191644857 | chr3:74655-74656 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs369099588 | chr3:74666-74667 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs542378162 | chr3:74682-74683 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs557247718 | chr3:74707-74708 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs11128717 | chr3:74710-74711 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs140133456 | chr3:74723-74724 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs143682940 | chr3:74725-74726 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs73813990 | chr3:74734-74735 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs540175665 | chr3:74747-74748 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs9713456 | chr3:74748-74749 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
24 | rs146345700 | chr3:74767-74768 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs184112616 | chr3:74790-74791 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs188858453 | chr3:75220-75221 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs532921112 | chr3:75229-75230 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs147604496 | chr3:75244-75245 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs564213103 | chr3:75266-75267 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs73093442 | chr3:75276-75277 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
31 | rs75301107 | chr3:75288-75289 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs181610241 | chr3:75290-75291 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs185398643 | chr3:75306-75307 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs573853076 | chr3:75307-75308 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs190643164 | chr3:75325-75326 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs551257113 | chr3:75332-75333 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs13326968 | chr3:75351-75352 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
38 | rs540013875 | chr3:75358-75359 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
39 | rs13066179 | chr3:75375-75376 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
40 | rs142209918 | chr3:75380-75381 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
41 | rs116969138 | chr3:75387-75388 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
42 | rs534699633 | chr3:75388-75389 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
43 | rs367921700 | chr3:75412-75413 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
44 | rs149905837 | chr3:75428-75429 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
45 | rs13066348 | chr3:75468-75469 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
46 | rs13091359 | chr3:75471-75472 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
47 | rs370296741 | chr3:75488-75489 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
48 | rs368633434 | chr3:75530-75531 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
49 | rs182325807 | chr3:75545-75546 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
50 | rs555389538 | chr3:75587-75588 | Enhancers | 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 |
Ependymoma | 20639864 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
Non-syndromic sensorineural hearing loss | 17289997 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Renal cell carcinoma | 21668985 | CNVD |
Tetralogy of Fallot | 22912587 | CNVD |
early-passage human iPS cells | 21368824 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
Autism | 22495311 | CNVD |
Autism | 20685689 | CNVD |
Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
Non-syndromic sensorineural hearing loss | 19587683 | CNVD |
Melanoma | 20877625 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Breast cancer | 22522925 | CNVD |
Multiple myeloma | 17550852 | CNVD |
Prostate cancer | 18632612 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Lung cancer | 20668451 | CNVD |
Breast cancer | 20668451 | CNVD |
Cancer | 20668451 | CNVD |
Ovarian cancer | 20668451 | CNVD |
Pancreas cancer | 20668451 | CNVD |
Prostate cancer | 20668451 | CNVD |
Cancer | 20164919 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr3:74400-74800 | Enhancers | Primary T helper naive cells fromperipheralblood | blood |
2 | chr3:75200-75800 | Enhancers | Breast Myoepithelial Primary Cells | Breast |
3 | chr3:84000-84400 | Enhancers | Fetal Brain Male | brain |
4 | chr3:84200-84600 | Enhancers | Fetal Brain Female | brain |
5 | chr3:84400-85400 | Weak transcription | Fetal Brain Male | brain |
6 | chr3:84800-85200 | Enhancers | Brain Germinal Matrix | brain |
7 | chr3:84800-85200 | Active TSS | Fetal Brain Female | brain |
8 | chr3:84800-85400 | Enhancers | Liver | Liver |
9 | chr3:85200-85800 | Enhancers | Fetal Brain Female | brain |
10 | chr3:85200-85800 | Enhancers | HepG2 | liver |
11 | chr3:85400-86000 | Flanking Active TSS | Liver | Liver |
12 | chr3:85400-86200 | Enhancers | Fetal Brain Male | brain |
13 | chr3:85600-85800 | Flanking Active TSS | Gastric | stomach |
14 | chr3:85600-86000 | Bivalent Enhancer | Fetal Kidney | kidney |
15 | chr3:85800-86000 | ZNF genes & repeats | Gastric | stomach |
16 | chr3:85800-86200 | Flanking Active TSS | HepG2 | liver |
17 | chr3:86000-86800 | Enhancers | Liver | Liver |
18 | chr3:86200-86800 | Enhancers | HepG2 | liver |
19 | chr3:86800-87800 | Weak transcription | HepG2 | liver |
20 | chr3:88000-88200 | Enhancers | HepG2 | liver |
21 | chr3:88000-89000 | Enhancers | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
22 | chr3:88000-90400 | Enhancers | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
23 | chr3:88200-89800 | Enhancers | Adipose Nuclei | Adipose |
24 | chr3:95000-95600 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
25 | chr3:95000-96600 | Enhancers | Breast Myoepithelial Primary Cells | Breast |
26 | chr3:95600-104600 | Weak transcription | Foreskin Melanocyte Primary Cells skin03 | Skin |
27 | chr3:97400-97600 | Enhancers | Brain Hippocampus Middle | brain |
28 | chr3:97600-98000 | Enhancers | Fetal Brain Male | brain |
29 | chr3:97800-98200 | Active TSS | Fetal Brain Female | brain |
30 | chr3:98000-98600 | Enhancers | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
31 | chr3:98000-104800 | Weak transcription | Fetal Brain Male | brain |
32 | chr3:98200-98600 | Enhancers | Fetal Brain Female | brain |
33 | chr3:103600-104400 | Enhancers | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
34 | chr3:103800-104200 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
35 | chr3:104200-104400 | Enhancers | Gastric | stomach |
36 | chr3:104400-104800 | Enhancers | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
37 | chr3:104400-105000 | Weak transcription | Gastric | stomach |
38 | chr3:104400-105400 | Enhancers | HUES48 Cell Line | embryonic stem cell |
39 | chr3:104400-105400 | Enhancers | HepG2 | liver |
40 | chr3:104400-105600 | Flanking Active TSS | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
41 | chr3:104600-104800 | Enhancers | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
42 | chr3:104600-104800 | Enhancers | Adipose Nuclei | Adipose |
43 | chr3:104600-104800 | Enhancers | Brain Substantia Nigra | brain |
44 | chr3:104600-105600 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
45 | chr3:104600-105600 | Enhancers | Fetal Lung | lung |
46 | chr3:104800-105000 | Flanking Active TSS | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
47 | chr3:104800-105000 | Active TSS | Brain Germinal Matrix | brain |
48 | chr3:104800-105000 | Enhancers | Stomach Mucosa | stomach |
49 | chr3:104800-105200 | Enhancers | Fetal Brain Male | brain |
50 | chr3:104800-105400 | Enhancers | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |