Variant report
Variant | nsv536271 |
---|---|
Chromosome Location | chr3:93948-838994 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:3019)
- CpG islands (count:2627)
- Chromatin interactive region (count:86)
- LncRNA region (count:58)
- 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 | chr3:455772-456068 | HepG2 | liver: | n/a | chr3:455850-455866 |
3 | ARID3A | chr3:291259-291870 | HepG2 | liver: | n/a | n/a |
4 | ARID3A | chr3:305517-307368 | HepG2 | liver: | n/a | n/a |
5 | ARID3A | chr3:418748-419094 | HepG2 | liver: | n/a | n/a |
6 | ARID3A | chr3:104725-105176 | HepG2 | liver: | n/a | n/a |
7 | ATF1 | chr3:128118-128267 | K562 | blood: | n/a | n/a |
8 | ATF2 | chr3:319829-320847 | GM12878 | blood: | n/a | n/a |
9 | ATF2 | chr3:331761-332103 | GM12878 | blood: | n/a | n/a |
10 | ATF2 | chr3:319964-320748 | GM12878 | blood: | n/a | n/a |
11 | ATF2 | chr3:254098-254530 | GM12878 | blood: | n/a | n/a |
12 | ATF2 | chr3:254017-254518 | GM12878 | blood: | n/a | n/a |
13 | ATF3 | chr3:306304-306760 | A549 | lung: | n/a | n/a |
14 | BACH1 | chr3:238826-240389 | H1-hESC | embryonic stem cell: | n/a | n/a |
15 | BACH1 | chr3:271174-271333 | K562 | blood: | n/a | n/a |
16 | BACH1 | chr3:165624-165661 | H1-hESC | embryonic stem cell: | n/a | n/a |
17 | BACH1 | chr3:238302-238499 | H1-hESC | embryonic stem cell: | n/a | n/a |
18 | BACH1 | chr3:541423-541496 | H1-hESC | embryonic stem cell: | n/a | n/a |
19 | BACH1 | chr3:577662-577951 | H1-hESC | embryonic stem cell: | n/a | n/a |
20 | BACH1 | chr3:516562-516874 | H1-hESC | embryonic stem cell: | n/a | n/a |
21 | BATF | chr3:254085-254416 | GM12878 | blood: | n/a | n/a |
22 | BATF | chr3:320384-320805 | GM12878 | blood: | n/a | n/a |
23 | BATF | chr3:599827-600084 | GM12878 | blood: | n/a | chr3:599953-599962 |
24 | BATF | chr3:341729-341996 | GM12878 | blood: | n/a | n/a |
25 | BATF | chr3:515030-515408 | GM12878 | blood: | n/a | chr3:515252-515263 |
26 | BATF | chr3:599789-600089 | GM12878 | blood: | n/a | chr3:599953-599962 |
27 | BATF | chr3:638972-639242 | GM12878 | blood: | n/a | chr3:639093-639102 |
28 | BATF | chr3:319906-320293 | GM12878 | blood: | n/a | n/a |
29 | BATF | chr3:166561-166841 | GM12878 | blood: | n/a | chr3:166679-166690 chr3:166653-166662 |
30 | BATF | chr3:462357-462600 | GM12878 | blood: | n/a | chr3:462485-462494 |
31 | BATF | chr3:166548-166773 | GM12878 | blood: | n/a | chr3:166679-166690 chr3:166653-166662 |
32 | BATF | chr3:259675-259847 | GM12878 | blood: | n/a | n/a |
33 | BATF | chr3:462277-462661 | GM12878 | blood: | n/a | chr3:462485-462494 |
34 | BATF | chr3:319974-320310 | GM12878 | blood: | n/a | n/a |
35 | BATF | chr3:505464-505768 | GM12878 | blood: | n/a | n/a |
36 | BATF | chr3:515014-515376 | GM12878 | blood: | n/a | chr3:515252-515263 |
37 | BCL11A | chr3:319927-320341 | GM12878 | blood: | n/a | chr3:320201-320210 chr3:320061-320069 |
38 | BCL11A | chr3:319942-320280 | GM12878 | blood: | n/a | chr3:320201-320210 chr3:320061-320069 |
39 | BCL3 | chr3:306168-306863 | A549 | lung: | n/a | chr3:306285-306294 chr3:306282-306291 |
40 | BCL3 | chr3:320464-320727 | GM12878 | blood: | n/a | n/a |
41 | BCL3 | chr3:306315-306750 | A549 | lung: | n/a | n/a |
42 | BCLAF1 | chr3:599656-600200 | GM12878 | blood: | n/a | chr3:599779-599788 chr3:599826-599835 |
43 | BCLAF1 | chr3:320388-320763 | GM12878 | blood: | n/a | n/a |
44 | BHLHE40 | chr3:150637-150664 | A549 | lung: | n/a | n/a |
45 | BHLHE40 | chr3:401416-401710 | GM12878 | blood: | n/a | n/a |
46 | BHLHE40 | chr3:394710-394716 | GM12878 | blood: | n/a | n/a |
47 | BHLHE40 | chr3:462348-462658 | GM12878 | blood: | n/a | n/a |
48 | BHLHE40 | chr3:260829-261058 | GM12878 | blood: | n/a | n/a |
49 | BHLHE40 | chr3:306286-306823 | HepG2 | liver: | n/a | n/a |
50 | BHLHE40 | chr3:152996-153196 | A549 | lung: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr3:353166-353216 | AG09309 | skin: | n/a |
2 | chr3:351003-351053 | Hepatocyte | liver: | n/a |
3 | chr3:350789-350839 | SAEC | small airway: | n/a |
4 | chr3:501673-501723 | T-47D | breast: | n/a |
5 | chr3:353166-353216 | AG09309 | skin: | n/a |
6 | chr3:351003-351053 | Hepatocyte | liver: | n/a |
7 | chr3:350789-350839 | SAEC | small airway: | n/a |
8 | chr3:501673-501723 | T-47D | breast: | n/a |
9 | chr3:350789-350839 | HAEpiC | amniotic membrane: | n/a |
10 | chr3:347869-347919 | HRPEpiC | eye: | n/a |
11 | chr3:577821-577871 | HCM | heart: | n/a |
12 | chr3:240139-240189 | HEEpiC | esophagus: | n/a |
13 | chr3:238615-238665 | SK-N-MC | brain: | n/a |
14 | chr3:350892-350942 | AG09309 | skin: | n/a |
15 | chr3:239733-239783 | AG04450 | lung: | fetal |
16 | chr3:350682-350732 | SK-N-SH | brain: | n/a |
17 | chr3:427757-427807 | NHBE | bronchial: | n/a |
18 | chr3:427757-427807 | K562 | blood: | n/a |
19 | chr3:347869-347919 | ECC-1 | luminal epithelium: | n/a |
20 | chr3:238496-238546 | HepG2 | liver: | n/a |
21 | chr3:236078-236128 | Hela-S3 | cervix: | n/a |
22 | chr3:782757-782807 | GM12878 | blood: | n/a |
23 | chr3:523375-523425 | HEEpiC | esophagus: | n/a |
24 | chr3:427757-427807 | ProgFib | skin: | n/a |
25 | chr3:239665-239715 | HEEpiC | esophagus: | n/a |
26 | chr3:239229-239279 | GM12891 | blood: | n/a |
27 | chr3:353166-353216 | AG04450 | lung: | fetal |
28 | chr3:238048-238098 | AG04450 | lung: | fetal |
29 | chr3:501673-501723 | H1-hESC | embryonic stem cell: | embryo |
30 | chr3:243996-244046 | GM19239 | blood: | n/a |
31 | chr3:350892-350942 | IMR90 | lung: | fetal |
32 | chr3:238496-238546 | HCF | heart: | n/a |
33 | chr3:239188-239238 | LNCaP | prostate: | n/a |
34 | chr3:427757-427807 | MCF10A-Er-Src | breast: | n/a |
35 | chr3:240139-240189 | HMEC | breast: | n/a |
36 | chr3:239188-239238 | AG09319 | gingival: | n/a |
37 | chr3:577964-578014 | RPTEC | kidney: | n/a |
38 | chr3:238618-238668 | GM19239 | blood: | n/a |
39 | chr3:236078-236128 | HNPCEpiC | eye: | n/a |
40 | chr3:238048-238098 | HL-60 | blood: | n/a |
41 | chr3:239506-239556 | PrEC | prostate: | n/a |
42 | chr3:347869-347919 | K562 | blood: | n/a |
43 | chr3:239506-239556 | HRPEpiC | eye: | n/a |
44 | chr3:351003-351053 | AG10803 | skin: | n/a |
45 | chr3:350602-350652 | GM12878 | blood: | n/a |
46 | chr3:347869-347919 | ovcar-3 | ovarian: | n/a |
47 | chr3:239665-239715 | RPTEC | kidney: | n/a |
48 | chr3:271185-271235 | HRCEpiC | kidney: | n/a |
49 | chr3:239506-239556 | HRE | kidney: | n/a |
50 | chr3:353166-353216 | SAEC | small airway: | n/a |
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr3:554700..557337-chr3:557649..560284,2 | K562 | blood: | |
2 | chr3:709932..711493-chr3:712317..715172,2 | K562 | blood: | |
3 | chr3:703062..705164-chr3:828470..830008,2 | K562 | blood: | |
4 | chr3:731301..733205-chr3:733252..736265,3 | K562 | blood: | |
5 | chr3:86365..87356-chr3:395941..396726,2 | MCF-7 | breast: | |
6 | chr12:101154422..101155178-chr3:753774..754622,2 | MCF-7 | breast: | |
7 | chr3:321596..323780-chr3:337949..340526,2 | MCF-7 | breast: | |
8 | chr3:369627..372241-chr3:375088..376630,2 | K562 | blood: | |
9 | chr3:333238..334968-chr3:337821..339342,2 | MCF-7 | breast: | |
10 | chr3:512741..514299-chr3:528430..530623,2 | K562 | blood: | |
11 | chr3:163984..165661-chr3:172610..174560,2 | K562 | blood: | |
12 | chr3:369627..372241-chr3:375088..376630,2 | K562 | blood: | |
13 | chr3:426526..428688-chr3:432686..435480,2 | K562 | blood: | |
14 | chr3:297411..299702-chr3:300779..302869,2 | K562 | blood: | |
15 | chr3:169328..170327-chr3:184848..185564,2 | MCF-7 | breast: | |
16 | chr3:395767..396427-chr3:418920..419430,2 | MCF-7 | breast: | |
17 | chr3:84468..85168-chr3:395782..396503,2 | MCF-7 | breast: | |
18 | chr3:379607..381981-chr3:384960..386643,2 | K562 | blood: | |
19 | chr3:323232..326179-chr3:404720..407065,2 | K562 | blood: | |
20 | chr3:453296..456199-chr3:456966..458950,2 | K562 | blood: | |
21 | chr3:423895..425881-chr3:427804..430449,2 | K562 | blood: | |
22 | chr3:751166..753010-chr3:765105..767568,2 | K562 | blood: | |
23 | chr3:188824..190368-chr3:386265..388997,2 | MCF-7 | breast: | |
24 | chr3:762317..764340-chr3:779905..782757,2 | K562 | blood: | |
25 | chr3:333238..334968-chr3:337821..339342,2 | MCF-7 | breast: | |
26 | chr3:389768..391549-chr3:394844..396538,2 | MCF-7 | breast: | |
27 | chr3:380749..382647-chr3:383286..385545,2 | MCF-7 | breast: | |
28 | chr3:512741..514299-chr3:528430..530623,2 | K562 | blood: | |
29 | chr21:9533639..9536328-chr3:614645..617390,2 | MCF-7 | breast: | |
30 | chr14:56081549..56082133-chr3:97763..98653,2 | MCF-7 | breast: | |
31 | chr3:188824..190368-chr3:386265..388997,2 | MCF-7 | breast: | |
32 | chr3:565796..568589-chr3:571178..572728,2 | K562 | blood: | |
33 | chr3:217250..219144-chr3:222760..225297,2 | MCF-7 | breast: | |
34 | chr3:554700..557337-chr3:557649..560284,2 | K562 | blood: | |
35 | chr3:453296..456199-chr3:456966..458950,2 | K562 | blood: | |
36 | chr3:556350..557928-chr3:558208..559835,2 | MCF-7 | breast: | |
37 | chr3:571404..573075-chr3:573790..576325,2 | MCF-7 | breast: | |
38 | chr3:423895..425881-chr3:427804..430449,2 | K562 | blood: | |
39 | chr3:522873..523625-chr3:674344..674995,2 | MCF-7 | breast: | |
40 | chr3:674217..674800-chr3:1123463..1123990,2 | MCF-7 | breast: | |
41 | chr3:762317..764340-chr3:779905..782757,2 | K562 | blood: | |
42 | chr3:674203..674975-chr3:2197712..2198482,2 | MCF-7 | breast: | |
43 | chr3:746367..749271-chr3:749542..752426,2 | K562 | blood: | |
44 | chr3:389768..391549-chr3:394844..396538,2 | MCF-7 | breast: | |
45 | chr3:379607..381981-chr3:384960..386643,2 | K562 | blood: | |
46 | chr3:726576..727076-chr3:11025934..11026463,2 | MCF-7 | breast: | |
47 | chr3:455533..456082-chr3:893341..894026,2 | MCF-7 | breast: | |
48 | chr3:703062..705164-chr3:828470..830008,2 | K562 | blood: | |
49 | chr3:380749..382647-chr3:383286..385545,2 | MCF-7 | breast: | |
50 | chr3:805612..808013-chr3:811141..813375,2 | K562 | blood: |
No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-CHL1-1 | chr3:111531-111663 | XLOC_002563 |
2 | lnc-CHL1-3 | chr3:633788-633866 | ENSG00000224957 |
3 | lnc-CHL1-3 | chr3:577936-578010 | ENSG00000224957 |
4 | lnc-IL5RA-15 | chr3:350397-351005 | NONHSAT087564 |
5 | lnc-IL5RA-6 | chr3:238650-239024 | ENSG00000224318.1 |
6 | lnc-IL5RA-6 | chr3:237679-237723 | NONHSAT087559 |
7 | lnc-CNTN6-7 | chr3:288251-290282 | NONHSAT087561 |
8 | lnc-IL5RA-6 | chr3:238139-238191 | ENSG00000224318.1 |
9 | lnc-IL5RA-6 | chr3:238139-238191 | ENSG00000224318.1 |
10 | lnc-IL5RA-6 | chr3:237679-237723 | ENSG00000224318.1 |
11 | lnc-IL5RA-6 | chr3:237679-237723 | ENSG00000224318.1 |
12 | lnc-IL5RA-6 | chr3:237679-237723 | ENSG00000224318.1 |
13 | lnc-IL5RA-5 | chr3:415500-415735 | ENSG00000234661.2 |
14 | lnc-IL5RA-6 | chr3:238139-238386 | NONHSAT087559 |
15 | lnc-CNTN6-7 | chr3:254887-255362 | NONHSAT087562 |
16 | lnc-IL5RA-7 | chr3:95976-96029 | XLOC_003014 |
17 | lnc-IL5RA-5 | chr3:427386-427478 | ENSG00000234661.1 |
18 | lnc-IL5RA-5 | chr3:405053-405706 | ENSG00000234661.1 |
19 | lnc-CNTN6-7 | chr3:286296-286375 | NONHSAT087560 |
20 | lnc-CHL1-1 | chr3:109008-109196 | XLOC_002563 |
21 | lnc-IL5RA-6 | chr3:238139-238191 | ENSG00000224318.1 |
22 | lnc-CHL1-1 | chr3:95888-96275 | XLOC_002563 |
23 | lnc-IL5RA-16 | chr3:172879-173007 | NONHSAT087554 |
24 | lnc-IL5RA-5 | chr3:405518-405706 | ENSG00000234661.2 |
25 | lnc-CHL1-1 | chr3:111531-111980 | XLOC_002563 |
26 | lnc-CNTN6-7 | chr3:288251-288539 | NONHSAT087560 |
27 | lnc-IL5RA-5 | chr3:424250-424415 | ENSG00000234661.1 |
28 | lnc-IL5RA-6 | chr3:238650-238882 | ENSG00000224318.1 |
29 | lnc-CHL1-3 | chr3:633788-633866 | NR_110118 |
30 | lnc-IL5RA-16 | chr3:157540-157624 | NONHSAT087555 |
31 | lnc-IL5RA-17 | chr3:147879-148034 | l_2301_chr3:147013-148034_heart |
32 | lnc-CHL1-1 | chr3:95888-96275 | XLOC_002563 |
33 | lnc-CHL1-3 | chr3:791898-791933 | NR_110118 |
34 | lnc-IL5RA-6 | chr3:237441-237597 | ENSG00000224318.1 |
35 | lnc-CNTN6-7 | chr3:239326-239775 | NONHSAT087561 |
36 | lnc-CHL1-3 | chr3:791898-791933 | ENSG00000224957 |
37 | lnc-IL5RA-6 | chr3:238290-238542 | ENSG00000224318.1 |
38 | lnc-IL5RA-16 | chr3:153782-154143 | NONHSAT087554 |
39 | lnc-IL5RA-6 | chr3:237441-237597 | ENSG00000224318.1 |
40 | lnc-CHL1-3 | chr3:577941-579275 | NONHSAT087570 |
41 | lnc-CHL1-6 | chr3:608788-608866 | ucscGeneNc_uc003boy_1 |
42 | lnc-IL5RA-14 | chr3:659472-659997 | NONHSAT087571 |
43 | lnc-IL5RA-7 | chr3:95031-95375 | XLOC_003014 |
44 | lnc-IL5RA-16 | chr3:153927-154143 | NONHSAT087555 |
45 | lnc-CNTN6-7 | chr3:239697-239775 | NONHSAT087562 |
46 | lnc-CNTN6-7 | chr3:286296-286375 | NONHSAT087561 |
47 | lnc-CHL1-6 | chr3:766898-766933 | ucscGeneNc_uc003boy_1 |
48 | lnc-CHL1-1 | chr3:109401-109695 | XLOC_002563 |
49 | lnc-IL5RA-6 | chr3:237441-237597 | ENSG00000224318.1 |
50 | lnc-IL5RA-16 | chr3:157540-157620 | NONHSAT087554 |
No data |
(count:3 , 50 per page) page:
1
No. | miRNA target gene | miRNA name | Chromosome Location | mirBase accession |
---|---|---|---|---|
1 | CHL1 | hsa-miR-181a-5p | chr3:448562-448584 | |
2 | CHL1 | hsa-miR-10a-5p | chr3:450185-450191 | |
3 | CHL1 | hsa-miR-10a-5p | chr3:450171-450192 |
Variant related genes | Relation type |
---|---|
RNU6-1194P | TF binding region |
RPS8P6 | TF binding region |
CHL1-AS1 | TF binding region |
ENSG00000224918 | TF binding region |
CHL1-AS2 | TF binding region |
ENSG00000224957 | TF binding region |
ENSG00000238075 | TF binding region |
CHL1 | TF binding region |
RNU6-1194P | CpG island |
RPS8P6 | CpG island |
CHL1-AS1 | CpG island |
ENSG00000224918 | CpG island |
CHL1-AS2 | CpG island |
ENSG00000224957 | CpG island |
ENSG00000238075 | CpG island |
CHL1 | CpG island |
ENSG00000252017 | chromatin interactions |
ENSG00000234661 | chromatin interactions |
DCBLD2 | miRNA target sites |
IL10 | miRNA target sites |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs187046988 | chr3:95006-95007 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs542506363 | chr3:95026-95027 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs539230420 | chr3:95035-95036 | Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
4 | rs559045695 | chr3:95049-95050 | Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
5 | rs554859245 | chr3:95059-95060 | Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
6 | rs577261913 | chr3:95091-95092 | Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
7 | rs541417200 | chr3:95130-95131 | Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
8 | rs538864381 | chr3:95141-95142 | Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
9 | rs575223468 | chr3:95154-95155 | Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
10 | rs17323863 | chr3:95172-95173 | Enhancers | lncRNA | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
11 | rs141385216 | chr3:95198-95199 | Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
12 | rs191902830 | chr3:95207-95208 | Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
13 | rs5019322 | chr3:95214-95215 | Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
14 | rs114940036 | chr3:95241-95242 | Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
15 | rs184330632 | chr3:95257-95258 | Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
16 | rs546585797 | chr3:95314-95315 | Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
17 | rs567684597 | chr3:95315-95316 | Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
18 | rs529175223 | chr3:95332-95333 | Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
19 | rs550491742 | chr3:95347-95348 | Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
20 | rs568798490 | chr3:95356-95357 | Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
21 | rs17075510 | chr3:95357-95358 | Enhancers | lncRNA | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
22 | rs551239145 | chr3:95361-95362 | Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
23 | rs564760430 | chr3:95404-95405 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs534772012 | chr3:95409-95410 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs190158673 | chr3:95414-95415 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs541171975 | chr3:95506-95507 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs146952269 | chr3:95532-95533 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs74777740 | chr3:95545-95546 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs369287552 | chr3:95559-95560 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs138050890 | chr3:95572-95573 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs142083116 | chr3:95579-95580 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs17040271 | chr3:95597-95598 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
33 | rs564482320 | chr3:95602-95603 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs530327564 | chr3:95613-95614 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs78386762 | chr3:95727-95728 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs577046845 | chr3:95728-95729 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs398061995 | chr3:95737-95738 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs11293547 | chr3:95738-95739 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs572910963 | chr3:95779-95780 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs143012311 | chr3:95802-95803 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs193239735 | chr3:95824-95825 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs548551720 | chr3:95837-95838 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs9866377 | chr3:95854-95855 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs528893980 | chr3:95859-95860 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs550153610 | chr3:95863-95864 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs148194766 | chr3:95868-95869 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs376233037 | chr3:95933-95934 | Enhancers Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
48 | rs73816907 | chr3:95935-95936 | Enhancers Weak transcription | lncRNA | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
49 | rs566518364 | chr3:95967-95968 | Enhancers Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
50 | rs1400176 | chr3:95973-95974 | Enhancers Weak transcription | lncRNA | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
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 |
Bipolar disorder | 19114987 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr3:95000-95600 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
2 | chr3:95000-96600 | Enhancers | Breast Myoepithelial Primary Cells | Breast |
3 | chr3:95600-104600 | Weak transcription | Foreskin Melanocyte Primary Cells skin03 | Skin |
4 | chr3:97400-97600 | Enhancers | Brain Hippocampus Middle | brain |
5 | chr3:97600-98000 | Enhancers | Fetal Brain Male | brain |
6 | chr3:97800-98200 | Active TSS | Fetal Brain Female | brain |
7 | chr3:98000-98600 | Enhancers | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
8 | chr3:98000-104800 | Weak transcription | Fetal Brain Male | brain |
9 | chr3:98200-98600 | Enhancers | Fetal Brain Female | brain |
10 | chr3:103600-104400 | Enhancers | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
11 | chr3:103800-104200 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
12 | chr3:104200-104400 | Enhancers | Gastric | stomach |
13 | chr3:104400-104800 | Enhancers | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
14 | chr3:104400-105000 | Weak transcription | Gastric | stomach |
15 | chr3:104400-105400 | Enhancers | HUES48 Cell Line | embryonic stem cell |
16 | chr3:104400-105400 | Enhancers | HepG2 | liver |
17 | chr3:104400-105600 | Flanking Active TSS | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
18 | chr3:104600-104800 | Enhancers | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
19 | chr3:104600-104800 | Enhancers | Adipose Nuclei | Adipose |
20 | chr3:104600-104800 | Enhancers | Brain Substantia Nigra | brain |
21 | chr3:104600-105600 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
22 | chr3:104600-105600 | Enhancers | Fetal Lung | lung |
23 | chr3:104800-105000 | Flanking Active TSS | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
24 | chr3:104800-105000 | Active TSS | Brain Germinal Matrix | brain |
25 | chr3:104800-105000 | Enhancers | Stomach Mucosa | stomach |
26 | chr3:104800-105200 | Enhancers | Fetal Brain Male | brain |
27 | chr3:104800-105400 | Enhancers | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
28 | chr3:104800-105400 | Enhancers | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
29 | chr3:104800-105400 | Flanking Active TSS | Adipose Nuclei | Adipose |
30 | chr3:104800-105400 | Enhancers | Brain Angular Gyrus | brain |
31 | chr3:104800-105400 | Active TSS | Brain Inferior Temporal Lobe | brain |
32 | chr3:104800-105600 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
33 | chr3:104800-105600 | Flanking Active TSS | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
34 | chr3:104800-105600 | Enhancers | Breast Myoepithelial Primary Cells | Breast |
35 | chr3:104800-105600 | Enhancers | Cortex derived primary cultured neurospheres | brain |
36 | chr3:104800-105600 | Enhancers | Brain Hippocampus Middle | brain |
37 | chr3:104800-105600 | Flanking Active TSS | Brain Substantia Nigra | brain |
38 | chr3:104800-105600 | Enhancers | Fetal Brain Female | brain |
39 | chr3:104800-105600 | Enhancers | Psoas Muscle | Psoas |
40 | chr3:104800-105800 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
41 | chr3:105000-105200 | Enhancers | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
42 | chr3:105000-105200 | Enhancers | Liver | Liver |
43 | chr3:105000-105400 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
44 | chr3:105000-105400 | Enhancers | Ganglion Eminence derived primary cultured neurospheres | brain |
45 | chr3:105000-105400 | Active TSS | Brain Dorsolateral Prefrontal Cortex | brain |
46 | chr3:105000-105400 | Enhancers | Pancreas | Pancrea |
47 | chr3:105000-105600 | Enhancers | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
48 | chr3:105000-105600 | Flanking Active TSS | Brain Anterior Caudate | brain |
49 | chr3:105000-105600 | Enhancers | Brain Cingulate Gyrus | brain |
50 | chr3:105000-105600 | Flanking Active TSS | Brain Germinal Matrix | brain |