Variant report
Variant | nsv877799 |
---|---|
Chromosome Location | chr3:162862113-163142162 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:509)
- CpG islands (count:61)
- Chromatin interactive region (count:25)
- LncRNA region (count:67)
- 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 | BCL11A | chr3:163035507-163035684 | GM12878 | blood: | n/a | n/a |
3 | CBX3 | chr3:163024140-163024571 | HCT-116 | colon: | n/a | n/a |
4 | CBX3 | chr3:163053313-163053625 | K562 | blood: | n/a | n/a |
5 | CBX3 | chr3:163053325-163053544 | K562 | blood: | n/a | n/a |
6 | CCNT2 | chr3:163113728-163113917 | K562 | blood: | n/a | n/a |
7 | CEBPB | chr3:162929413-162929748 | A549 | lung: | n/a | chr3:162929588-162929605 chr3:162929590-162929601 chr3:162929560-162929571 chr3:162929562-162929573 |
8 | CEBPB | chr3:162893798-162893837 | H1-hESC | embryonic stem cell: | n/a | n/a |
9 | 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 |
10 | CEBPB | chr3:163097193-163097391 | A549 | lung: | n/a | chr3:163097277-163097288 |
11 | CEBPB | chr3:162929417-162929749 | K562 | blood: | n/a | chr3:162929588-162929605 chr3:162929590-162929601 chr3:162929560-162929571 chr3:162929562-162929573 |
12 | CEBPB | chr3:162995031-162995257 | A549 | lung: | n/a | chr3:162995163-162995176 |
13 | CEBPB | chr3:162978995-162979027 | K562 | blood: | n/a | n/a |
14 | CEBPB | chr3:163097111-163097457 | IMR90 | lung: | n/a | chr3:163097277-163097288 |
15 | CEBPB | chr3:163097121-163097403 | K562 | blood: | n/a | chr3:163097277-163097288 |
16 | CEBPB | chr3:162932353-162932482 | K562 | blood: | n/a | n/a |
17 | CEBPB | chr3:163016685-163016894 | A549 | lung: | n/a | n/a |
18 | CEBPB | chr3:162929418-162929759 | HepG2 | liver: | n/a | chr3:162929588-162929605 chr3:162929590-162929601 chr3:162929560-162929571 chr3:162929562-162929573 |
19 | CEBPB | chr3:163004712-163004916 | K562 | blood: | 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 |
20 | CEBPB | chr3:162929409-162929718 | IMR90 | lung: | n/a | chr3:162929588-162929605 chr3:162929590-162929601 chr3:162929560-162929571 chr3:162929562-162929573 |
21 | CEBPB | chr3:163135983-163136113 | H1-hESC | embryonic stem cell: | n/a | chr3:163135991-163136002 chr3:163135992-163136001 chr3:163135992-163136001 |
22 | CEBPB | chr3:162932325-162932463 | IMR90 | lung: | n/a | n/a |
23 | CEBPB | chr3:162932427-162932441 | A549 | lung: | n/a | n/a |
24 | CEBPB | chr3:162929432-162929720 | Hela-S3 | cervix: | n/a | chr3:162929588-162929605 chr3:162929590-162929601 chr3:162929560-162929571 chr3:162929562-162929573 |
25 | CEBPB | chr3:163077613-163077856 | HepG2 | liver: | n/a | n/a |
26 | CEBPB | chr3:163058995-163059440 | A549 | lung: | n/a | n/a |
27 | CEBPB | chr3:163097132-163097429 | HepG2 | liver: | n/a | chr3:163097277-163097288 |
28 | CEBPB | chr3:162897199-162897419 | A549 | lung: | n/a | n/a |
29 | CEBPB | chr3:163135827-163136125 | HepG2 | liver: | n/a | chr3:163135991-163136002 chr3:163135992-163136001 chr3:163135992-163136001 |
30 | CEBPB | chr3:163004791-163004858 | H1-hESC | embryonic stem cell: | 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 |
31 | 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 |
32 | CHD2 | chr3:163105026-163106562 | K562 | blood: | n/a | n/a |
33 | CHD2 | chr3:162976142-162976148 | H1-hESC | embryonic stem cell: | n/a | n/a |
34 | CHD2 | chr3:163104244-163104528 | K562 | blood: | n/a | n/a |
35 | CHD2 | chr3:162900110-162900118 | H1-hESC | embryonic stem cell: | n/a | n/a |
36 | CHD2 | chr3:162984654-162984921 | GM12878 | blood: | n/a | n/a |
37 | CTCF | chr3:163046530-163046725 | K562 | blood: | n/a | n/a |
38 | CTCF | chr3:163046688-163046708 | Medullo | brain: | n/a | n/a |
39 | CTCF | chr3:163046600-163046750 | HepG2 | liver: | n/a | n/a |
40 | CTCF | chr3:163009617-163009656 | GM10248 | blood: | n/a | n/a |
41 | CTCF | chr3:163046665-163046718 | HepG2 | liver: | n/a | n/a |
42 | CTCF | chr3:162991640-162991790 | WERI-Rb-1 | eye: | n/a | n/a |
43 | CTCF | chr3:163046600-163046750 | MCF-7 | breast: | n/a | n/a |
44 | CTCF | chr3:162973547-162973685 | Medullo | brain: | n/a | chr3:162973613-162973621 chr3:162973609-162973625 chr3:162973610-162973631 |
45 | CTCF | chr3:163046634-163046754 | K562 | blood: | n/a | n/a |
46 | CTCF | chr3:162953064-162953107 | Spleen_OC | spleen: | n/a | n/a |
47 | CTCF | chr3:163046624-163046726 | MCF-7 | breast: | n/a | n/a |
48 | CTCF | chr3:162991630-162991752 | LNCaP | prostate: | n/a | n/a |
49 | CTCF | chr3:163053260-163053410 | HCT-116 | colon: | n/a | n/a |
50 | CTCF | chr3:163046471-163046834 | H1-hESC | embryonic stem cell: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr3:163021378-163021428 | HRPEpiC | eye: | n/a |
2 | chr3:163021378-163021428 | CMK | blood: | n/a |
3 | chr3:163021378-163021428 | BE2_C | brain: | n/a |
4 | chr3:163021378-163021428 | NH-A | brain: | n/a |
5 | chr3:163021378-163021428 | Jurkat | blood: | n/a |
6 | chr3:163021378-163021428 | U87 | brain: | n/a |
7 | chr3:163021378-163021428 | NHBE | bronchial: | n/a |
8 | chr3:163021378-163021428 | ECC-1 | luminal epithelium: | n/a |
9 | chr3:163021378-163021428 | MCF-7 | breast: | n/a |
10 | chr3:163021378-163021428 | HL-60 | blood: | n/a |
11 | chr3:163021378-163021428 | ProgFib | skin: | n/a |
12 | chr3:163021378-163021428 | HepG2 | liver: | n/a |
13 | chr3:163021378-163021428 | HEK293 | kidney: | embryo |
14 | chr3:163021378-163021428 | HEEpiC | esophagus: | n/a |
15 | chr3:163021378-163021428 | PANC-1 | pancreas: | n/a |
16 | chr3:163021378-163021428 | HCT-116 | colon: | n/a |
17 | chr3:163021378-163021428 | A549 | lung: | n/a |
18 | chr3:163021378-163021428 | PFSK-1 | brain: | n/a |
19 | chr3:163021378-163021428 | T-47D | breast: | n/a |
20 | chr3:163021378-163021428 | GM19239 | blood: | n/a |
21 | chr3:163021378-163021428 | NT2-D1 | testis: | n/a |
22 | chr3:163021378-163021428 | IMR90 | lung: | fetal |
23 | chr3:163021378-163021428 | HPAEpiC | pulmonary alveolar: | n/a |
24 | chr3:163021378-163021428 | HCF | heart: | n/a |
25 | chr3:163021378-163021428 | GM06990 | blood: | n/a |
26 | chr3:163021378-163021428 | AG09319 | gingival: | n/a |
27 | chr3:163021378-163021428 | AoSMC | blood vessel: | n/a |
28 | chr3:163021378-163021428 | K562 | blood: | n/a |
29 | chr3:163021378-163021428 | RPTEC | kidney: | n/a |
30 | chr3:163021378-163021428 | AG10803 | skin: | n/a |
31 | chr3:163021378-163021428 | LNCaP | prostate: | n/a |
32 | chr3:163021378-163021428 | PrEC | prostate: | n/a |
33 | chr3:163021378-163021428 | NHDF-neo | bronchial: | n/a |
34 | chr3:163021378-163021428 | SK-N-SH_RA | brain: | n/a |
35 | chr3:163021378-163021428 | ovcar-3 | ovarian: | n/a |
36 | chr3:163021378-163021428 | Caco-2 | colon: | n/a |
37 | chr3:163021378-163021428 | HNPCEpiC | eye: | n/a |
38 | chr3:163021378-163021428 | HCPEpiC | choroid plexus: | n/a |
39 | chr3:163021378-163021428 | HCM | heart: | n/a |
40 | chr3:163021378-163021428 | HIPEpiC | eye: | n/a |
41 | chr3:163021378-163021428 | Hepatocyte | liver: | n/a |
42 | chr3:163021378-163021428 | SAEC | small airway: | n/a |
43 | chr3:163021378-163021428 | HMEC | breast: | n/a |
44 | chr3:163021378-163021428 | SKMC | muscle: | n/a |
45 | chr3:163021378-163021428 | AG04450 | lung: | fetal |
46 | chr3:163021378-163021428 | NB4 | blood: | n/a |
47 | chr3:163021378-163021428 | GM12891 | blood: | n/a |
48 | chr3:163021378-163021428 | HRE | kidney: | n/a |
49 | chr3:163021378-163021428 | H1-hESC | embryonic stem cell: | embryo |
50 | chr3:163021378-163021428 | MCF10A-Er-Src | breast: | n/a |
(count:25 , 50 per page) page:
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr3:163056333..163058966-chr3:163059531..163061180,3 | K562 | blood: | |
2 | chr3:163121369..163123913-chr3:163134434..163136619,2 | K562 | blood: | |
3 | chr3:163090274..163091850-chr3:163098856..163100455,2 | K562 | blood: | |
4 | chr3:162468849..162471720-chr3:162897232..162899564,2 | K562 | blood: | |
5 | chr3:162924888..162927929-chr3:162929573..162933579,3 | K562 | blood: | |
6 | chr3:162965564..162967593-chr3:162971986..162973917,2 | K562 | blood: | |
7 | chr3:163099881..163101461-chr3:163102597..163105467,2 | K562 | blood: | |
8 | chr3:163056333..163058966-chr3:163059531..163061180,3 | K562 | blood: | |
9 | chr3:163105916..163108059-chr3:163125965..163128652,2 | K562 | blood: | |
10 | chr3:162774576..162775267-chr3:162991199..162992106,3 | MCF-7 | breast: | |
11 | chr3:163011480..163014323-chr3:163020834..163023758,2 | MCF-7 | breast: | |
12 | chr3:163098893..163101155-chr3:163335067..163337245,2 | K562 | blood: | |
13 | chr10:69265595..69266499-chr3:162973315..162973821,2 | MCF-7 | breast: | |
14 | chr3:163093927..163096694-chr3:163097446..163100303,3 | K562 | blood: | |
15 | chr3:163121369..163123913-chr3:163134434..163136619,2 | K562 | blood: | |
16 | chr3:163093927..163096694-chr3:163097446..163100303,3 | K562 | blood: | |
17 | chr3:162965564..162967593-chr3:162971986..162973917,2 | K562 | blood: | |
18 | chr16:17545591..17546532-chr3:163096602..163097414,2 | MCF-7 | breast: | |
19 | chr3:163105916..163108059-chr3:163125965..163128652,2 | K562 | blood: | |
20 | chr3:163029844..163032021-chr3:163043055..163045557,2 | K562 | blood: | |
21 | chr3:162973215..162973789-chr3:163207913..163208691,2 | MCF-7 | breast: | |
22 | chr3:162924888..162927929-chr3:162929573..162933579,3 | K562 | blood: | |
23 | chr3:163090274..163091850-chr3:163098856..163100455,2 | K562 | blood: | |
24 | chr3:163029844..163032021-chr3:163043055..163045557,2 | K562 | blood: | |
25 | chr3:163099881..163101461-chr3:163102597..163105467,2 | K562 | blood: |
No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-SI-4 | chr3:162992984-162993107 | ENSG00000241369 |
2 | lnc-SI-4 | chr3:162917363-162917542 | ENSG00000241369 |
3 | lnc-OTOL1-2 | chr3:162925763-162925882 | ENSG00000241168.1 |
4 | lnc-OTOL1-2 | chr3:162925763-162925882 | NONHSAT093026 |
5 | lnc-SI-4 | chr3:162921206-162921298 | NONHSAT093037 |
6 | lnc-SI-4 | chr3:162921206-162921303 | ENSG00000241369 |
7 | lnc-SI-4 | chr3:162937704-162937975 | ENSG00000241369 |
8 | lnc-SI-4 | chr3:162996298-162996391 | ENSG00000241369 |
9 | lnc-SI-4 | chr3:162917365-162917542 | ENSG00000241369 |
10 | lnc-SI-4 | chr3:162996298-162996391 | ENSG00000241369 |
11 | lnc-OTOL1-2 | chr3:162946486-162946540 | NONHSAT093026 |
12 | lnc-OTOL1-2 | chr3:162948497-162949934 | NONHSAT093026 |
13 | lnc-SI-4 | chr3:162917366-162917542 | ENSG00000241369 |
14 | lnc-SI-4 | chr3:162917662-162917739 | ENSG00000241369 |
15 | lnc-SI-4 | chr3:163054933-163055024 | ENSG00000241369 |
16 | lnc-SI-4 | chr3:163079232-163079351 | ENSG00000241369 |
17 | lnc-SI-4 | chr3:162925431-162925545 | ENSG00000241369 |
18 | lnc-OTOL1-10 | chr3:163021583-163022065 | NONHSAT093040 |
19 | lnc-OTOL1-2 | chr3:162946486-162946540 | ENSG00000241168.1 |
20 | lnc-OTOL1-2 | chr3:162937866-162937980 | NONHSAT093026 |
21 | lnc-SI-4 | chr3:162937889-162937975 | ENSG00000241369 |
22 | lnc-SI-4 | chr3:162919870-162920037 | ENSG00000241369 |
23 | lnc-OTOL1-10 | chr3:163031456-163031501 | NONHSAT093040 |
24 | lnc-SI-4 | chr3:162937889-162937975 | ENSG00000241369 |
25 | lnc-SI-4 | chr3:162992984-162993107 | ENSG00000241369 |
26 | lnc-SI-4 | chr3:162992984-162993107 | ENSG00000241369 |
27 | lnc-SI-4 | chr3:162919326-162919405 | ENSG00000241369 |
28 | lnc-SI-4 | chr3:162900619-162900716 | ENSG00000241369 |
29 | lnc-SI-4 | chr3:163021026-163021103 | ENSG00000241369 |
30 | lnc-SI-4 | chr3:162919326-162919405 | ENSG00000241369 |
31 | lnc-OTOL1-2 | chr3:162948497-162949937 | ENSG00000241168.1 |
32 | lnc-SI-4 | chr3:163020984-163021076 | ENSG00000241369 |
33 | lnc-SI-4 | chr3:163021026-163021110 | ENSG00000241369 |
34 | lnc-SI-4 | chr3:162937889-162937975 | ENSG00000241369 |
35 | lnc-SI-4 | chr3:162992984-162993107 | ENSG00000241369 |
36 | lnc-SI-4 | chr3:162895689-162895889 | ENSG00000241369 |
37 | lnc-SI-4 | chr3:162937889-162937929 | ENSG00000241369 |
38 | lnc-SI-4 | chr3:162917662-162917739 | ENSG00000241369 |
39 | lnc-SI-4 | chr3:162917662-162917739 | ENSG00000241369 |
40 | lnc-SI-4 | chr3:162917416-162917542 | ENSG00000241369 |
41 | lnc-SI-4 | chr3:162917363-162917542 | ENSG00000241369 |
42 | lnc-SI-4 | chr3:162996298-162996391 | ENSG00000241369 |
43 | lnc-SI-4 | chr3:162917662-162917719 | NONHSAT093031 |
44 | lnc-SI-4 | chr3:162921206-162921303 | ENSG00000241369 |
45 | lnc-SI-4 | chr3:162919326-162919405 | ENSG00000241369 |
46 | lnc-SI-4 | chr3:162917416-162917542 | NONHSAT093031 |
47 | lnc-SI-4 | chr3:162996298-162996391 | ENSG00000241369 |
48 | lnc-SI-4 | chr3:162919326-162919405 | ENSG00000241369 |
49 | lnc-SI-4 | chr3:162895031-162895889 | ENSG00000241369 |
50 | lnc-SI-4 | chr3:162937889-162937975 | ENSG00000241369 |
No data |
No data |
Variant related genes | Relation type |
---|---|
CT64 | TF binding region |
ENSG00000238398 | TF binding region |
CT64 | CpG island |
ENSG00000238398 | CpG island |
ENSG00000241369 | chromatin interactions |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs552778678 | chr3:162889816-162889817 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs370782256 | chr3:162889847-162889848 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs370227461 | chr3:162889856-162889857 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs373720986 | chr3:162889943-162889944 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs183502845 | chr3:162890011-162890012 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs138695682 | chr3:162890041-162890042 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs149355205 | chr3:162890042-162890043 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs188573706 | chr3:162890048-162890049 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs578036786 | chr3:162890057-162890058 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs544891398 | chr3:162890058-162890059 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs147473388 | chr3:162890066-162890067 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs376084011 | chr3:162890074-162890075 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs181036846 | chr3:162890092-162890093 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs529929288 | chr3:162890114-162890115 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs139985324 | chr3:162890160-162890161 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs563466873 | chr3:162890171-162890172 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs532385536 | chr3:162890175-162890176 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs552258387 | chr3:162890190-162890191 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs565805573 | chr3:162890232-162890233 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs186331895 | chr3:162890255-162890256 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs547863489 | chr3:162890284-162890285 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs143992280 | chr3:162890338-162890339 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs190399778 | chr3:162890368-162890369 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs557272863 | chr3:162890394-162890395 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs181674604 | chr3:162890412-162890413 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs13094605 | chr3:162890453-162890454 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs539647304 | chr3:162890483-162890484 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs553021141 | chr3:162890496-162890497 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs187566627 | chr3:162890498-162890499 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs542343098 | chr3:162890512-162890513 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs555451871 | chr3:162890523-162890524 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs190898288 | chr3:162890529-162890530 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs571700303 | chr3:162890532-162890533 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs543341516 | chr3:162890546-162890547 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs540676045 | chr3:162890558-162890559 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs542900684 | chr3:162890584-162890585 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs147309187 | chr3:162890618-162890619 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs577085727 | chr3:162890622-162890623 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs546038185 | chr3:162890626-162890627 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs182336101 | chr3:162890627-162890628 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs185131252 | chr3:162890651-162890652 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs189844111 | chr3:162890721-162890722 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs56691025 | chr3:162890743-162890744 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs530538559 | chr3:162890870-162890871 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs12636618 | chr3:162890878-162890879 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
46 | rs142471187 | chr3:162890956-162890957 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs532208950 | chr3:162890969-162890970 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs368556283 | chr3:162890979-162890980 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs183434757 | chr3:162891025-162891026 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs150910261 | chr3:162891042-162891043 | Weak transcription | n/a | n/a | 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 |
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 |
Bladder cancer | 21909424 | CNVD |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
Glioblastoma multiforme | 21138945 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr3:162889800-162894200 | Weak transcription | Fetal Heart | heart |
2 | chr3:162892200-162892400 | Enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |
3 | chr3:162892200-162892800 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
4 | chr3:162892200-162892800 | Enhancers | HUES6 Cell Line | embryonic stem cell |
5 | chr3:162892800-162893800 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
6 | chr3:162893800-162894000 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
7 | chr3:162894200-162895200 | Enhancers | Fetal Heart | heart |
8 | chr3:162904600-162905000 | ZNF genes & repeats | Dnd41 | blood |
9 | chr3:162914400-162915000 | Enhancers | Dnd41 | blood |
10 | chr3:162936400-162950200 | Weak transcription | HUES6 Cell Line | embryonic stem cell |
11 | chr3:162947400-162954200 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
12 | chr3:162953800-162954800 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
13 | chr3:162954200-162954800 | Active TSS | ES-I3 Cell Line | embryonic stem cell |
14 | chr3:162954200-162954800 | Active TSS | ES-WA7 Cell Line | embryonic stem cell |
15 | chr3:162975800-162976200 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
16 | chr3:163065600-163066400 | Enhancers | HUES64 Cell Line | embryonic stem cell |
17 | chr3:163065600-163066800 | Enhancers | HUES48 Cell Line | embryonic stem cell |
18 | chr3:163079000-163079600 | Active TSS | Hela-S3 | cervix |
19 | chr3:163085200-163085800 | Enhancers | Aorta | Aorta |
20 | chr3:163086600-163086800 | Enhancers | Adipose Nuclei | Adipose |
21 | chr3:163086800-163087400 | Flanking Active TSS | Adipose Nuclei | Adipose |
22 | chr3:163101600-163102800 | Enhancers | Dnd41 | blood |
23 | chr3:163103400-163104200 | Active TSS | K562 | blood |
24 | chr3:163108600-163109000 | Enhancers | Adipose Nuclei | Adipose |
25 | chr3:163108800-163110400 | Enhancers | Dnd41 | blood |
26 | chr3:163136000-163144200 | Weak transcription | Aorta | Aorta |