Variant report
Variant | nsv592201 |
---|---|
Chromosome Location | chr3:162188625-163142162 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:2721)
- CpG islands (count:549)
- Chromatin interactive region (count:94)
- LncRNA region (count:78)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | ARID3A | chr3:163005669-163005678 | K562 | blood: | n/a | n/a |
2 | ARID3A | chr3:162274656-162274700 | K562 | blood: | n/a | n/a |
3 | ATF1 | chr3:162387319-162387469 | K562 | blood: | n/a | n/a |
4 | ATF1 | chr3:162547298-162547407 | K562 | blood: | n/a | n/a |
5 | ATF1 | chr3:162196526-162196643 | K562 | blood: | n/a | n/a |
6 | ATF2 | chr3:162458852-162459444 | H1-hESC | embryonic stem cell: | n/a | n/a |
7 | ATF2 | chr3:162458859-162459451 | H1-hESC | embryonic stem cell: | n/a | n/a |
8 | ATF3 | chr3:162210124-162210804 | A549 | lung: | n/a | n/a |
9 | BACH1 | chr3:162205043-162205091 | H1-hESC | embryonic stem cell: | n/a | chr3:162205077-162205091 |
10 | BACH1 | chr3:162650431-162650615 | H1-hESC | embryonic stem cell: | n/a | n/a |
11 | BATF | chr3:162426813-162426972 | GM12878 | blood: | n/a | n/a |
12 | BCL11A | chr3:163035507-163035684 | GM12878 | blood: | n/a | n/a |
13 | BCL3 | chr3:162610898-162611612 | A549 | lung: | n/a | chr3:162611348-162611357 |
14 | BCL3 | chr3:162210121-162210895 | A549 | lung: | n/a | n/a |
15 | BHLHE40 | chr3:162249523-162249528 | GM12878 | blood: | n/a | n/a |
16 | BRCA1 | chr3:162717002-162717061 | Hela-S3 | cervix: | n/a | n/a |
17 | BRCA1 | chr3:162343607-162343624 | Hela-S3 | cervix: | n/a | n/a |
18 | BRCA1 | chr3:162774855-162774871 | HepG2 | liver: | n/a | n/a |
19 | BRCA1 | chr3:162774683-162774995 | Hela-S3 | cervix: | n/a | n/a |
20 | CBX3 | chr3:163053313-163053625 | K562 | blood: | n/a | n/a |
21 | CBX3 | chr3:162437445-162437946 | HCT-116 | colon: | n/a | n/a |
22 | CBX3 | chr3:163053325-163053544 | K562 | blood: | n/a | n/a |
23 | CBX3 | chr3:163024140-163024571 | HCT-116 | colon: | n/a | n/a |
24 | CCNT2 | chr3:162254493-162254693 | K562 | blood: | n/a | n/a |
25 | CCNT2 | chr3:163113728-163113917 | K562 | blood: | n/a | n/a |
26 | CEBPB | chr3:162210151-162210916 | A549 | lung: | n/a | chr3:162210491-162210504 |
27 | CEBPB | chr3:162929413-162929748 | A549 | lung: | n/a | chr3:162929588-162929605 chr3:162929590-162929601 chr3:162929560-162929571 chr3:162929562-162929573 |
28 | CEBPB | chr3:162209758-162210932 | A549 | lung: | n/a | chr3:162210491-162210504 |
29 | CEBPB | chr3:162476766-162477058 | A549 | lung: | n/a | chr3:162476875-162476886 |
30 | CEBPB | chr3:162932325-162932463 | IMR90 | lung: | n/a | n/a |
31 | CEBPB | chr3:163097193-163097391 | A549 | lung: | n/a | chr3:163097277-163097288 |
32 | CEBPB | chr3:162209674-162210107 | A549 | lung: | n/a | n/a |
33 | CEBPB | chr3:162815303-162815572 | A549 | lung: | n/a | chr3:162815435-162815446 |
34 | CEBPB | chr3:162447443-162447905 | IMR90 | lung: | n/a | n/a |
35 | CEBPB | chr3:162695952-162696294 | A549 | lung: | n/a | chr3:162696130-162696139 chr3:162696130-162696139 chr3:162696130-162696139 |
36 | CEBPB | chr3:163004771-163005007 | HepG2 | liver: | n/a | chr3:163004841-163004852 chr3:163004841-163004850 chr3:163004841-163004850 chr3:163004839-163004852 chr3:163004841-163004850 chr3:163004841-163004850 chr3:163004839-163004852 chr3:163004839-163004852 chr3:163004839-163004850 |
37 | CEBPB | chr3:162219255-162219607 | HepG2 | liver: | n/a | chr3:162219429-162219440 |
38 | CEBPB | chr3:163004717-163004994 | IMR90 | lung: | n/a | chr3:163004841-163004852 chr3:163004841-163004850 chr3:163004841-163004850 chr3:163004839-163004852 chr3:163004841-163004850 chr3:163004841-163004850 chr3:163004839-163004852 chr3:163004839-163004852 chr3:163004839-163004850 |
39 | CEBPB | chr3:162682187-162682344 | K562 | blood: | n/a | chr3:162682288-162682299 |
40 | CEBPB | chr3:162774571-162774995 | H1-hESC | embryonic stem cell: | n/a | n/a |
41 | CEBPB | chr3:162696021-162696193 | K562 | blood: | n/a | chr3:162696130-162696139 chr3:162696130-162696139 chr3:162696130-162696139 |
42 | CEBPB | chr3:162395700-162395948 | A549 | lung: | n/a | n/a |
43 | CEBPB | chr3:162537323-162537439 | HepG2 | liver: | n/a | chr3:162537366-162537383 chr3:162537369-162537380 chr3:162537369-162537382 chr3:162537369-162537382 chr3:162537371-162537382 chr3:162537369-162537382 |
44 | CEBPB | chr3:162856075-162856324 | MCF-7 | breast: | n/a | n/a |
45 | CEBPB | chr3:162695972-162696288 | IMR90 | lung: | n/a | chr3:162696130-162696139 chr3:162696130-162696139 chr3:162696130-162696139 |
46 | CEBPB | chr3:162544112-162544312 | HepG2 | liver: | n/a | chr3:162544161-162544172 |
47 | CEBPB | chr3:162493943-162494295 | H1-hESC | embryonic stem cell: | n/a | n/a |
48 | CEBPB | chr3:162815262-162815596 | HepG2 | liver: | n/a | chr3:162815435-162815446 |
49 | CEBPB | chr3:163077613-163077856 | HepG2 | liver: | n/a | n/a |
50 | CEBPB | chr3:162815287-162815558 | IMR90 | lung: | n/a | chr3:162815435-162815446 |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr3:162705427-162705477 | GM12892 | blood: | n/a |
2 | chr3:162705427-162705477 | HIPEpiC | eye: | n/a |
3 | chr3:162317560-162317610 | GM12891 | blood: | n/a |
4 | chr3:163021378-163021428 | BJ | skin: | n/a |
5 | chr3:163021378-163021428 | HepG2 | liver: | n/a |
6 | chr3:162210236-162210286 | Jurkat | blood: | n/a |
7 | chr3:162705203-162705253 | AG09309 | skin: | n/a |
8 | chr3:163021378-163021428 | GM12878 | blood: | n/a |
9 | chr3:162705337-162705387 | AG09309 | skin: | n/a |
10 | chr3:163021378-163021428 | U87 | brain: | n/a |
11 | chr3:162420994-162421044 | AG04449 | skin: | fetal |
12 | chr3:162653787-162653837 | AG10803 | skin: | n/a |
13 | chr3:162317560-162317610 | HRE | kidney: | n/a |
14 | chr3:162705203-162705253 | NHDF-neo | bronchial: | n/a |
15 | chr3:162210236-162210286 | HIPEpiC | eye: | n/a |
16 | chr3:163021378-163021428 | MCF10A-Er-Src | breast: | n/a |
17 | chr3:162653787-162653837 | HIPEpiC | eye: | n/a |
18 | chr3:163021378-163021428 | HCM | heart: | n/a |
19 | chr3:162705427-162705477 | GM12891 | blood: | n/a |
20 | chr3:162705337-162705387 | HEEpiC | esophagus: | n/a |
21 | chr3:163021378-163021428 | AG10803 | skin: | n/a |
22 | chr3:162210236-162210286 | SAEC | small airway: | n/a |
23 | chr3:162420994-162421044 | HIPEpiC | eye: | n/a |
24 | chr3:163021378-163021428 | LNCaP | prostate: | n/a |
25 | chr3:162317560-162317610 | AG04450 | lung: | fetal |
26 | chr3:163021378-163021428 | HRE | kidney: | n/a |
27 | chr3:162420994-162421044 | NH-A | brain: | n/a |
28 | chr3:162705337-162705387 | ECC-1 | luminal epithelium: | n/a |
29 | chr3:162705427-162705477 | Hela-S3 | cervix: | n/a |
30 | chr3:162420994-162421044 | MCF10A-Er-Src | breast: | n/a |
31 | chr3:162705337-162705387 | RPTEC | kidney: | n/a |
32 | chr3:162705203-162705253 | HCM | heart: | n/a |
33 | chr3:162317560-162317610 | CMK | blood: | n/a |
34 | chr3:162210236-162210286 | AG09309 | skin: | n/a |
35 | chr3:162421027-162421077 | CMK | blood: | n/a |
36 | chr3:162653787-162653837 | HEEpiC | esophagus: | n/a |
37 | chr3:162421027-162421077 | HepG2 | liver: | n/a |
38 | chr3:162705337-162705387 | A549 | lung: | n/a |
39 | chr3:162317560-162317610 | HUVEC | blood vessel: | n/a |
40 | chr3:162705203-162705253 | AG10803 | skin: | n/a |
41 | chr3:162705427-162705477 | GM19239 | blood: | n/a |
42 | chr3:162317560-162317610 | Caco-2 | colon: | n/a |
43 | chr3:163021378-163021428 | HCF | heart: | n/a |
44 | chr3:162317560-162317610 | GM06990 | blood: | n/a |
45 | chr3:162653787-162653837 | HRPEpiC | eye: | n/a |
46 | chr3:162420994-162421044 | BE2_C | brain: | n/a |
47 | chr3:162705427-162705477 | HCM | heart: | n/a |
48 | chr3:162705203-162705253 | HEEpiC | esophagus: | n/a |
49 | chr3:162653787-162653837 | NH-A | brain: | n/a |
50 | chr3:162653787-162653837 | SK-N-SH_RA | brain: | n/a |
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr3:163029844..163032021-chr3:163043055..163045557,2 | K562 | blood: | |
2 | chr3:162774576..162775267-chr3:162991199..162992106,3 | MCF-7 | breast: | |
3 | chr16:87583669..87584291-chr3:162551047..162551567,2 | MCF-7 | breast: | |
4 | chr3:162449508..162452375-chr3:162459605..162462257,2 | MCF-7 | breast: | |
5 | chr3:162248022..162250123-chr3:162255012..162257585,2 | MCF-7 | breast: | |
6 | chr3:162755966..162757761-chr3:162760804..162762764,2 | MCF-7 | breast: | |
7 | chr3:162774415..162775478-chr3:163207241..163208645,5 | MCF-7 | breast: | |
8 | chr3:162268890..162270552-chr3:162314764..162316650,2 | MCF-7 | breast: | |
9 | chr3:162307801..162310469-chr3:162314134..162316904,3 | MCF-7 | breast: | |
10 | chr3:162449508..162452375-chr3:162459605..162462257,2 | MCF-7 | breast: | |
11 | chr3:162774576..162775267-chr3:162991199..162992106,3 | MCF-7 | breast: | |
12 | chr3:162622047..162623612-chr3:162639605..162642211,2 | K562 | blood: | |
13 | chr3:163090274..163091850-chr3:163098856..163100455,2 | K562 | blood: | |
14 | chr3:163099881..163101461-chr3:163102597..163105467,2 | K562 | blood: | |
15 | chr3:163121369..163123913-chr3:163134434..163136619,2 | K562 | blood: | |
16 | chr3:162411048..162413287-chr3:162414403..162417401,2 | MCF-7 | breast: | |
17 | chr3:162394370..162397355-chr3:162401132..162403109,2 | MCF-7 | breast: | |
18 | chr3:163121369..163123913-chr3:163134434..163136619,2 | K562 | blood: | |
19 | chr3:162829065..162831690-chr3:162831998..162834078,2 | MCF-7 | breast: | |
20 | chr3:162730866..162732605-chr3:162732763..162734314,2 | MCF-7 | breast: | |
21 | chr3:162248022..162250123-chr3:162255012..162257585,2 | MCF-7 | breast: | |
22 | chr3:163056333..163058966-chr3:163059531..163061180,3 | K562 | blood: | |
23 | chr3:163056333..163058966-chr3:163059531..163061180,3 | K562 | blood: | |
24 | chr3:162307801..162310469-chr3:162314134..162316904,3 | MCF-7 | breast: | |
25 | chr3:162821263..162822976-chr3:162826872..162828945,2 | MCF-7 | breast: | |
26 | chr3:162781747..162783965-chr3:162788037..162790015,2 | MCF-7 | breast: | |
27 | chr3:162548004..162549875-chr3:162551679..162554489,2 | MCF-7 | breast: | |
28 | chr3:162781747..162783965-chr3:162788037..162790015,2 | MCF-7 | breast: | |
29 | chr3:163105916..163108059-chr3:163125965..163128652,2 | K562 | blood: | |
30 | chr3:162367684..162370185-chr3:162370811..162372665,2 | MCF-7 | breast: | |
31 | chr3:162268890..162270552-chr3:162314764..162316650,2 | MCF-7 | breast: | |
32 | chr16:87583726..87584390-chr3:162551047..162551567,2 | MCF-7 | breast: | |
33 | chr3:163105916..163108059-chr3:163125965..163128652,2 | K562 | blood: | |
34 | chr3:162695238..162696118-chr5:168564460..168564967,2 | MCF-7 | breast: | |
35 | chr3:162475543..162478495-chr3:162480272..162482533,2 | MCF-7 | breast: | |
36 | chr3:162494680..162495563-chr3:162760633..162761552,3 | MCF-7 | breast: | |
37 | chr3:162471864..162474454-chr3:162482441..162485010,2 | MCF-7 | breast: | |
38 | chr3:162475543..162478495-chr3:162480272..162482533,2 | MCF-7 | breast: | |
39 | chr3:163098893..163101155-chr3:163335067..163337245,2 | K562 | blood: | |
40 | chr3:162272776..162275444-chr3:162275569..162277317,2 | K562 | blood: | |
41 | chr3:163029844..163032021-chr3:163043055..163045557,2 | K562 | blood: | |
42 | chr16:17545591..17546532-chr3:163096602..163097414,2 | MCF-7 | breast: | |
43 | chr3:162965564..162967593-chr3:162971986..162973917,2 | K562 | blood: | |
44 | chr3:162468849..162471720-chr3:162897232..162899564,2 | K562 | blood: | |
45 | chr3:162399486..162401021-chr3:162401571..162403144,2 | MCF-7 | breast: | |
46 | chr3:162692633..162695202-chr3:162700914..162703834,2 | MCF-7 | breast: | |
47 | chr3:162367684..162370185-chr3:162370811..162372665,2 | MCF-7 | breast: | |
48 | chr3:162554556..162557102-chr3:162558855..162561328,2 | K562 | blood: | |
49 | chr3:162754967..162757825-chr3:162758379..162760616,2 | MCF-7 | breast: | |
50 | chr3:162411048..162413287-chr3:162414403..162417401,2 | MCF-7 | breast: |
No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-OTOL1-2 | chr3:162744184-162744286 | NONHSAT093026 |
2 | lnc-SI-4 | chr3:162937889-162937975 | ENSG00000241369 |
3 | lnc-SI-4 | chr3:162917366-162917542 | ENSG00000241369 |
4 | lnc-SI-4 | chr3:163054933-163055024 | ENSG00000241369 |
5 | lnc-SI-4 | chr3:162967053-162967162 | ENSG00000241369 |
6 | lnc-SI-4 | chr3:163021026-163021110 | ENSG00000241369 |
7 | lnc-OTOL1-2 | chr3:162948497-162949934 | NONHSAT093026 |
8 | lnc-SI-4 | chr3:162900619-162900698 | ENSG00000241369 |
9 | lnc-SI-4 | chr3:162917662-162917739 | ENSG00000241369 |
10 | lnc-OTOL1-2 | chr3:162948497-162949937 | ENSG00000241168.1 |
11 | lnc-SI-4 | chr3:162996298-162996391 | ENSG00000241369 |
12 | lnc-SI-4 | chr3:162900619-162900716 | ENSG00000241369 |
13 | lnc-SI-4 | chr3:162919870-162920037 | ENSG00000241369 |
14 | lnc-SI-4 | chr3:162996298-162996361 | ENSG00000241369 |
15 | lnc-SI-4 | chr3:162845711-162845859 | ENSG00000241369 |
16 | lnc-SI-4 | chr3:162917662-162917739 | ENSG00000241369 |
17 | lnc-OTOL1-2 | chr3:162937866-162937980 | ENSG00000241168.1 |
18 | lnc-SI-4 | chr3:162921206-162921298 | NONHSAT093037 |
19 | lnc-OTOL1-2 | chr3:162946486-162946540 | ENSG00000241168.1 |
20 | lnc-OTOL1-8 | chr3:162441830-162442283 | NONHSAT093025 |
21 | lnc-SI-4 | chr3:162992984-162993107 | ENSG00000241369 |
22 | lnc-OTOL1-10 | chr3:163021583-163022065 | NONHSAT093040 |
23 | lnc-SI-4 | chr3:162937704-162937975 | ENSG00000241369 |
24 | lnc-SI-4 | chr3:162919326-162919405 | ENSG00000241369 |
25 | lnc-SI-4 | chr3:162921206-162921303 | ENSG00000241369 |
26 | lnc-OTOL1-2 | chr3:162443543-162443656 | NONHSAT093026 |
27 | lnc-SI-4 | chr3:162937889-162937975 | ENSG00000241369 |
28 | lnc-SI-4 | chr3:163021026-163021105 | ENSG00000241369 |
29 | lnc-SI-4 | chr3:162919326-162919405 | ENSG00000241369 |
30 | lnc-SI-4 | chr3:162917365-162917542 | ENSG00000241369 |
31 | lnc-OTOL1-9 | chr3:162833217-162833974 | NONHSAT093027 |
32 | lnc-SI-4 | chr3:162992984-162993107 | ENSG00000241369 |
33 | lnc-OTOL1-7 | chr3:162275135-162279381 | ucscGeneNc_uc003fdu_2 |
34 | lnc-SI-4 | chr3:162919326-162919405 | ENSG00000241369 |
35 | lnc-SI-4 | chr3:162996298-162996391 | ENSG00000241369 |
36 | lnc-OTOL1-2 | chr3:162631870-162632022 | NONHSAT093026 |
37 | lnc-SI-4 | chr3:162925431-162925545 | ENSG00000241369 |
38 | lnc-SI-4 | chr3:162919326-162919405 | ENSG00000241369 |
39 | lnc-SI-4 | chr3:162937889-162937975 | ENSG00000241369 |
40 | lnc-SI-4 | chr3:162917662-162917739 | ENSG00000241369 |
41 | lnc-SI-4 | chr3:162992984-162993107 | ENSG00000241369 |
42 | lnc-SI-4 | chr3:162895031-162895889 | ENSG00000241369 |
43 | lnc-SPTSSB-7 | chr3:162204329-162204737 | NONHSAT093022 |
44 | lnc-SI-4 | chr3:162921206-162921303 | ENSG00000241369 |
45 | lnc-SI-4 | chr3:163079232-163079351 | ENSG00000241369 |
46 | lnc-SI-4 | chr3:162996298-162996391 | ENSG00000241369 |
47 | lnc-OTOL1-10 | chr3:163031456-163031501 | NONHSAT093040 |
48 | lnc-OTOL1-2 | chr3:162937866-162937980 | NONHSAT093026 |
49 | lnc-SI-4 | chr3:163021026-163021103 | ENSG00000241369 |
50 | lnc-SI-4 | chr3:162919326-162919405 | ENSG00000241369 |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000244571 | TF binding region |
ENSG00000241168 | TF binding region |
ENSG00000243044 | TF binding region |
CT64 | TF binding region |
TOMM22P6 | TF binding region |
ENSG00000238398 | TF binding region |
ENSG00000244571 | CpG island |
ENSG00000241168 | CpG island |
ENSG00000243044 | CpG island |
CT64 | CpG island |
TOMM22P6 | CpG island |
ENSG00000238398 | CpG island |
ENSG00000241369 | chromatin interactions |
ENSG00000144354 | chromatin interactions |
ENSG00000244571 | chromatin interactions |
ENSG00000243176 | chromatin interactions |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs540049872 | chr3:162204014-162204015 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs527816990 | chr3:162204015-162204016 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs371533636 | chr3:162204016-162204017 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs116210561 | chr3:162204033-162204034 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs563895064 | chr3:162204041-162204042 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs531404182 | chr3:162204105-162204106 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs192521070 | chr3:162204150-162204151 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs571754928 | chr3:162204160-162204161 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs183873356 | chr3:162204163-162204164 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs555303387 | chr3:162204206-162204207 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs575638335 | chr3:162204215-162204216 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs75880301 | chr3:162204222-162204223 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs77799281 | chr3:162204241-162204242 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs397801930 | chr3:162204250-162204251 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs564632182 | chr3:162204251-162204252 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs576949913 | chr3:162204252-162204253 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs545987279 | chr3:162204286-162204287 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs75268831 | chr3:162204298-162204299 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs528347653 | chr3:162204306-162204307 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs539287039 | chr3:162204327-162204328 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs568053154 | chr3:162204448-162204449 | Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
22 | rs139309319 | chr3:162204507-162204508 | Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
23 | rs530573058 | chr3:162204518-162204519 | Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
24 | rs188539567 | chr3:162204528-162204529 | Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
25 | rs371388498 | chr3:162204548-162204549 | Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
26 | rs570560007 | chr3:162204584-162204585 | Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
27 | rs375256749 | chr3:162204589-162204590 | Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
28 | rs539183001 | chr3:162204603-162204604 | Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
29 | rs546745609 | chr3:162204605-162204606 | Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
30 | rs115860126 | chr3:162204630-162204631 | Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
31 | rs535740936 | chr3:162204634-162204635 | Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
32 | rs555687010 | chr3:162204641-162204642 | Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
33 | rs144134904 | chr3:162204647-162204648 | Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
34 | rs78312447 | chr3:162204650-162204651 | Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
35 | rs557884979 | chr3:162204675-162204676 | Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
36 | rs79479986 | chr3:162204676-162204677 | Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
37 | rs144280136 | chr3:162204758-162204759 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
38 | rs540732618 | chr3:162204772-162204773 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
39 | rs181369169 | chr3:162204804-162204805 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
40 | rs573115980 | chr3:162204845-162204846 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
41 | rs542138478 | chr3:162204857-162204858 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
42 | rs562040400 | chr3:162204882-162204883 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
43 | rs78957676 | chr3:162204912-162204913 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
44 | rs73163527 | chr3:162204914-162204915 | Weak transcription | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
45 | rs186084570 | chr3:162204968-162204969 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
46 | rs532826074 | chr3:162205006-162205007 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
47 | rs146522864 | chr3:162205011-162205012 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
48 | rs566723090 | chr3:162205017-162205018 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
49 | rs529473625 | chr3:162205073-162205074 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
50 | rs549250858 | chr3:162205079-162205080 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Basal cell lymphoma | 17053054 | CNVD |
Esophageal cancer | 21851588 | CNVD |
Uveal melanoma | 21693616 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Retinoblastoma | 21504564 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Intellectual disability | 22102821 | CNVD |
Autism | 22495311 | CNVD |
Lung cancer | 18438408 | CNVD |
Squamous cell cancer | 20885788 | CNVD |
Melanoma | 18172304 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Breast cancer | 22032731 | CNVD |
Breast cancer | 16461572 | CNVD |
Neuroblastoma | 17533364 | CNVD |
Cervical Cancer | 21857958 | CNVD |
Melanoma | 21693616 | CNVD |
Lung cancer | 21426551 | CNVD |
Cancer | 21637783 | CNVD |
Cervical cancer | 21063398 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Liposarcoma | 21253554 | CNVD |
Oral cancer | 21386901 | CNVD |
Renal cell carcinoma | 19461508 | CNVD |
Cancer | 22065749 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Breast cancer | 21264507 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Basal cell lymphoma | 21115979 | CNVD |
head and neck squamous cell carcinoma | 17671120 | CNVD |
Esophageal squamous carcinoma | 18350619 | CNVD |
Myelodysplastic syndrome | 21251322 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Acute lymphoblastic leukemia | 21339820 | CNVD |
Breast cancer | 16608533 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Non-small cell lung cancer | 19010865 | CNVD |
Prostate cancer | 18632612 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Ovarian clear cell carcinoma | 21343371 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Prostate cancer | 16547154 | CNVD |
Breast cancer | 21364760 | CNVD |
Gastrointestinal stromal cancer | 20818650 | CNVD |
Prostate cancer | 16573809 | CNVD |
Breast cancer | 21785460 | CNVD |
Sudden cardiac death | 19188705 | CNVD |
Mantle cell lymphoma | 19029149 | CNVD |
Malformation | 19546859 | CNVD |
Schizophrenia | 19546859 | CNVD |
Breast cancer | 17133270 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Hirschsprung''s Disease | 21712996 | CNVD |
Attention deficit hyperactivity disorder | 21324949 | CNVD |
Barrett''s adenocarcinoma | 18663352 | CNVD |
epilepsy | 18472482 | CNVD |
Myeloproliferative neoplasm | 20015882 | CNVD |
Myxofibrosarcoma | 16751306 | CNVD |
Parkinson disease | 21907011 | CNVD |
Lung cancer | 20668451 | CNVD |
Breast cancer | 20668451 | CNVD |
Cancer | 20668451 | CNVD |
Ovarian cancer | 20668451 | CNVD |
Pancreas cancer | 20668451 | CNVD |
Prostate cancer | 20668451 | CNVD |
Breast cancer | 22522925 | CNVD |
Schizophrenia | 23813976 | CNVD |
Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
Ovarian cancer | 21781307 | CNVD |
Bladder cancer | 21909424 | CNVD |
Chordoma | 21215367 | CNVD |
Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
Glioblastoma multiforme | 21138945 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr3:162204000-162204800 | Enhancers | Dnd41 | blood |
2 | chr3:162204800-162213000 | Weak transcription | Dnd41 | blood |
3 | chr3:162205400-162206200 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
4 | chr3:162205800-162206200 | Enhancers | ES-WA7 Cell Line | embryonic stem cell |
5 | chr3:162206200-162210000 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
6 | chr3:162208800-162209200 | Enhancers | A549 | lung |
7 | chr3:162209200-162209600 | Weak transcription | A549 | lung |
8 | chr3:162209600-162209800 | Enhancers | Osteobl | bone |
9 | chr3:162209600-162210000 | Enhancers | Muscle Satellite Cultured Cells | -- |
10 | chr3:162209600-162210200 | Enhancers | A549 | lung |
11 | chr3:162209600-162211400 | Enhancers | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
12 | chr3:162209800-162210000 | Flanking Active TSS | Osteobl | bone |
13 | chr3:162209800-162210200 | Enhancers | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
14 | chr3:162209800-162211000 | Enhancers | Hela-S3 | cervix |
15 | chr3:162209800-162211200 | Enhancers | Foreskin Fibroblast Primary Cells skin01 | Skin |
16 | chr3:162209800-162211200 | Enhancers | NH-A | brain |
17 | chr3:162209800-162211200 | Enhancers | NHDF-Ad | bronchial |
18 | chr3:162210000-162210200 | Enhancers | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
19 | chr3:162210000-162210200 | Enhancers | Osteobl | bone |
20 | chr3:162210000-162210400 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
21 | chr3:162210000-162210600 | Flanking Active TSS | Muscle Satellite Cultured Cells | -- |
22 | chr3:162210000-162211600 | Enhancers | HSMM | muscle |
23 | chr3:162210200-162210400 | Enhancers | IMR90 fetal lung fibroblasts Cell Line | lung |
24 | chr3:162210200-162210400 | Flanking Active TSS | A549 | lung |
25 | chr3:162210200-162210600 | Enhancers | HUES64 Cell Line | embryonic stem cell |
26 | chr3:162210200-162210600 | Flanking Active TSS | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
27 | chr3:162210200-162210600 | Flanking Active TSS | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
28 | chr3:162210200-162210600 | Enhancers | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
29 | chr3:162210200-162210600 | Flanking Active TSS | Osteobl | bone |
30 | chr3:162210200-162210800 | Enhancers | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
31 | chr3:162210200-162211200 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
32 | chr3:162210200-162211200 | Enhancers | Fetal Heart | heart |
33 | chr3:162210200-162211200 | Enhancers | HSMMtube | muscle |
34 | chr3:162210400-162210800 | Active TSS | A549 | lung |
35 | chr3:162210600-162211000 | Enhancers | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
36 | chr3:162210600-162211000 | Enhancers | Muscle Satellite Cultured Cells | -- |
37 | chr3:162210600-162211200 | Enhancers | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
38 | chr3:162210600-162211200 | Enhancers | Osteobl | bone |
39 | chr3:162210600-162212000 | Enhancers | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
40 | chr3:162210800-162211400 | Enhancers | A549 | lung |
41 | chr3:162211000-162211200 | Flanking Active TSS | Muscle Satellite Cultured Cells | -- |
42 | chr3:162211200-162212000 | Enhancers | Muscle Satellite Cultured Cells | -- |
43 | chr3:162217200-162217400 | Enhancers | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
44 | chr3:162224800-162226000 | Enhancers | Muscle Satellite Cultured Cells | -- |
45 | chr3:162225000-162225800 | Enhancers | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
46 | chr3:162225400-162225800 | Enhancers | HSMM | muscle |
47 | chr3:162232600-162233000 | Enhancers | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
48 | chr3:162235200-162236000 | Enhancers | Dnd41 | blood |
49 | chr3:162236000-162236600 | Genic enhancers | Dnd41 | blood |
50 | chr3:162236600-162236800 | Flanking Active TSS | Dnd41 | blood |