Variant report
Variant | nsv1047991 |
---|---|
Chromosome Location | chr13:65982529-66931617 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:3633)
- CpG islands (count:611)
- Chromatin interactive region (count:43)
- LncRNA region (count:27)
- Mature miRNA region (count: 3)
- miRNA target sites (count:3)
No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | ARID3A | chr13:66651230-66651680 | K562 | blood: | n/a | n/a |
2 | ARID3A | chr13:66648258-66648447 | K562 | blood: | n/a | n/a |
3 | ARID3A | chr13:66650602-66650906 | K562 | blood: | n/a | n/a |
4 | ARID3A | chr13:66643768-66644097 | K562 | blood: | n/a | n/a |
5 | ARID3A | chr13:66784968-66784973 | HepG2 | liver: | n/a | n/a |
6 | ARID3A | chr13:66886857-66887028 | HepG2 | liver: | n/a | n/a |
7 | ARID3A | chr13:66713473-66713809 | HepG2 | liver: | n/a | n/a |
8 | ATF1 | chr13:66650593-66650896 | K562 | blood: | n/a | n/a |
9 | ATF1 | chr13:66035822-66036144 | K562 | blood: | n/a | n/a |
10 | ATF1 | chr13:66648256-66648525 | K562 | blood: | n/a | n/a |
11 | ATF1 | chr13:66643737-66644023 | K562 | blood: | n/a | n/a |
12 | ATF2 | chr13:66712423-66712799 | GM12878 | blood: | n/a | n/a |
13 | ATF2 | chr13:66798630-66799137 | H1-hESC | embryonic stem cell: | n/a | n/a |
14 | ATF3 | chr13:66886740-66887227 | A549 | lung: | n/a | n/a |
15 | BATF | chr13:66712420-66712936 | GM12878 | blood: | n/a | n/a |
16 | BATF | chr13:66080137-66080390 | GM12878 | blood: | n/a | n/a |
17 | BATF | chr13:66041811-66041993 | GM12878 | blood: | n/a | chr13:66041940-66041951 |
18 | BATF | chr13:66712465-66712951 | GM12878 | blood: | n/a | n/a |
19 | BATF | chr13:65988370-65988595 | GM12878 | blood: | n/a | n/a |
20 | BATF | chr13:66702801-66703238 | GM12878 | blood: | n/a | n/a |
21 | BCL11A | chr13:66798709-66799125 | H1-hESC | embryonic stem cell: | n/a | n/a |
22 | BCL11A | chr13:66712457-66712949 | GM12878 | blood: | n/a | chr13:66712844-66712853 |
23 | BCL11A | chr13:66712423-66713013 | GM12878 | blood: | n/a | chr13:66712844-66712853 |
24 | BCL11A | chr13:66702875-66703088 | GM12878 | blood: | n/a | n/a |
25 | BCL11A | chr13:66798756-66799093 | H1-hESC | embryonic stem cell: | n/a | n/a |
26 | BCL11A | chr13:66702751-66703109 | GM12878 | blood: | n/a | n/a |
27 | BCL3 | chr13:66886608-66887994 | A549 | lung: | n/a | n/a |
28 | BCL3 | chr13:66886752-66887345 | A549 | lung: | n/a | n/a |
29 | BCLAF1 | chr13:66712465-66712857 | GM12878 | blood: | n/a | chr13:66712844-66712853 |
30 | BHLHE40 | chr13:66212820-66213067 | GM12878 | blood: | n/a | n/a |
31 | BHLHE40 | chr13:66739043-66739104 | K562 | blood: | n/a | n/a |
32 | BHLHE40 | chr13:66902776-66902779 | K562 | blood: | n/a | n/a |
33 | BHLHE40 | chr13:66712457-66712998 | GM12878 | blood: | n/a | n/a |
34 | BHLHE40 | chr13:66917482-66917943 | K562 | blood: | n/a | n/a |
35 | BHLHE40 | chr13:66648396-66648557 | K562 | blood: | n/a | n/a |
36 | BRCA1 | chr13:66712793-66712993 | GM12878 | blood: | n/a | n/a |
37 | BRCA1 | chr13:66035765-66036027 | Hela-S3 | cervix: | n/a | n/a |
38 | BRCA1 | chr13:66878245-66878246 | Hela-S3 | cervix: | n/a | n/a |
39 | CBX3 | chr13:66784784-66785224 | HCT-116 | colon: | n/a | n/a |
40 | CBX3 | chr13:66212653-66213113 | HCT-116 | colon: | n/a | n/a |
41 | CBX3 | chr13:66784811-66785347 | HCT-116 | colon: | n/a | n/a |
42 | CBX3 | chr13:66861033-66861253 | K562 | blood: | n/a | n/a |
43 | CBX3 | chr13:66643667-66644035 | K562 | blood: | n/a | n/a |
44 | CCNT2 | chr13:66589547-66589747 | K562 | blood: | n/a | n/a |
45 | CCNT2 | chr13:66617039-66617239 | K562 | blood: | n/a | n/a |
46 | CEBPB | chr13:66252032-66252574 | HCT-116 | colon: | n/a | n/a |
47 | CEBPB | chr13:66485897-66486276 | IMR90 | lung: | n/a | chr13:66486079-66486092 chr13:66486081-66486090 chr13:66486081-66486090 chr13:66486079-66486092 chr13:66486081-66486092 chr13:66486079-66486090 chr13:66486081-66486090 chr13:66486081-66486090 |
48 | CEBPB | chr13:66035754-66036255 | Hela-S3 | cervix: | n/a | n/a |
49 | CEBPB | chr13:66612357-66612666 | MCF-7 | breast: | n/a | n/a |
50 | CEBPB | chr13:66269557-66269900 | IMR90 | lung: | n/a | chr13:66269714-66269727 chr13:66269716-66269727 chr13:66269714-66269725 |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr13:66607275-66607325 | Hela-S3 | cervix: | n/a |
2 | chr13:66607275-66607325 | Hela-S3 | cervix: | n/a |
3 | chr13:66583583-66583633 | NH-A | brain: | n/a |
4 | chr13:66878738-66878788 | HepG2 | liver: | n/a |
5 | chr13:66322551-66322601 | HRE | kidney: | n/a |
6 | chr13:66583686-66583736 | BE2_C | brain: | n/a |
7 | chr13:66156848-66156898 | HEEpiC | esophagus: | n/a |
8 | chr13:66929165-66929215 | HCM | heart: | n/a |
9 | chr13:66607275-66607325 | NH-A | brain: | n/a |
10 | chr13:66252177-66252227 | HEEpiC | esophagus: | n/a |
11 | chr13:66322551-66322601 | HEEpiC | esophagus: | n/a |
12 | chr13:66322551-66322601 | AG09309 | skin: | n/a |
13 | chr13:66607275-66607325 | PFSK-1 | brain: | n/a |
14 | chr13:66322551-66322601 | AG04450 | lung: | fetal |
15 | chr13:66156848-66156898 | Hepatocyte | liver: | n/a |
16 | chr13:66252177-66252227 | H1-hESC | embryonic stem cell: | embryo |
17 | chr13:66607275-66607325 | SK-N-SH | brain: | n/a |
18 | chr13:66919912-66919962 | HNPCEpiC | eye: | n/a |
19 | chr13:66322551-66322601 | ProgFib | skin: | n/a |
20 | chr13:66878738-66878788 | NHDF-neo | bronchial: | n/a |
21 | chr13:66501111-66501161 | H1-hESC | embryonic stem cell: | embryo |
22 | chr13:66252177-66252227 | Hepatocyte | liver: | n/a |
23 | chr13:66919912-66919962 | NHBE | bronchial: | n/a |
24 | chr13:66322551-66322601 | HIPEpiC | eye: | n/a |
25 | chr13:66929165-66929215 | Hela-S3 | cervix: | n/a |
26 | chr13:66583583-66583633 | HUVEC | blood vessel: | n/a |
27 | chr13:66156848-66156898 | NB4 | blood: | n/a |
28 | chr13:66583686-66583736 | GM12892 | blood: | n/a |
29 | chr13:66252177-66252227 | RPTEC | kidney: | n/a |
30 | chr13:66607275-66607325 | H1-hESC | embryonic stem cell: | embryo |
31 | chr13:66322551-66322601 | HUVEC | blood vessel: | n/a |
32 | chr13:66252177-66252227 | HCT-116 | colon: | n/a |
33 | chr13:66929165-66929215 | SK-N-SH | brain: | n/a |
34 | chr13:66607275-66607325 | NB4 | blood: | n/a |
35 | chr13:66583583-66583633 | PrEC | prostate: | n/a |
36 | chr13:66878738-66878788 | GM06990 | blood: | n/a |
37 | chr13:66929165-66929215 | MCF-7 | breast: | n/a |
38 | chr13:66156848-66156898 | H1-hESC | embryonic stem cell: | embryo |
39 | chr13:66322551-66322601 | AG10803 | skin: | n/a |
40 | chr13:66322551-66322601 | HCF | heart: | n/a |
41 | chr13:66501111-66501161 | NHDF-neo | bronchial: | n/a |
42 | chr13:66878738-66878788 | HEEpiC | esophagus: | n/a |
43 | chr13:66583583-66583633 | BJ | skin: | n/a |
44 | chr13:66252177-66252227 | HNPCEpiC | eye: | n/a |
45 | chr13:66583583-66583633 | HNPCEpiC | eye: | n/a |
46 | chr13:66878738-66878788 | U87 | brain: | n/a |
47 | chr13:66583686-66583736 | HepG2 | liver: | n/a |
48 | chr13:66607275-66607325 | AG04449 | skin: | fetal |
49 | chr13:66252177-66252227 | MCF-7 | breast: | n/a |
50 | chr13:66919912-66919962 | T-47D | breast: | n/a |
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr13:66296680..66298971-chr13:66300615..66302352,2 | MCF-7 | breast: | |
2 | chr13:66358245..66360880-chr16:71346372..71347872,2 | MCF-7 | breast: | |
3 | chr13:66423397..66425712-chr13:66435469..66437961,2 | K562 | blood: | |
4 | chr13:66500564..66501578-chr13:66540848..66541721,3 | MCF-7 | breast: | |
5 | chr13:66725373..66727381-chr13:66728791..66730521,2 | K562 | blood: | |
6 | chr13:66206471..66208391-chr13:66217892..66220664,2 | K562 | blood: | |
7 | chr13:66557440..66557967-chr13:82054818..82055319,2 | MCF-7 | breast: | |
8 | chr13:66230680..66231446-chr13:66540896..66541772,3 | MCF-7 | breast: | |
9 | chr13:65020257..65021157-chr13:66212532..66213123,2 | MCF-7 | breast: | |
10 | chr13:66824109..66824810-chr16:71735977..71736631,2 | MCF-7 | breast: | |
11 | chr13:66901663..66903255-chr13:66906195..66907818,2 | K562 | blood: | |
12 | chr13:66909684..66911530-chr13:66916300..66919201,2 | K562 | blood: | |
13 | chr13:66014665..66017459-chr13:66017619..66020223,2 | MCF-7 | breast: | |
14 | chr13:66879908..66881972-chr13:66902872..66904425,2 | K562 | blood: | |
15 | chr13:66782802..66785217-chr13:66787154..66788780,2 | MCF-7 | breast: | |
16 | chr13:66622814..66624893-chr13:66627297..66630041,2 | K562 | blood: | |
17 | chr13:66500564..66501578-chr13:66540848..66541721,3 | MCF-7 | breast: | |
18 | chr13:66423397..66425712-chr13:66435469..66437961,2 | K562 | blood: | |
19 | chr13:66582815..66585533-chr13:66632919..66634778,2 | K562 | blood: | |
20 | chr13:66677587..66680337-chr13:66682446..66685267,2 | K562 | blood: | |
21 | chr13:66606276..66609107-chr13:66609295..66610970,2 | MCF-7 | breast: | |
22 | chr13:66206471..66208391-chr13:66217892..66220664,2 | K562 | blood: | |
23 | chr13:66918574..66921439-chr13:66945401..66948264,2 | MCF-7 | breast: | |
24 | chr13:66046639..66047382-chr3:13541452..13542407,2 | MCF-7 | breast: | |
25 | chr13:66622814..66624893-chr13:66627297..66630041,2 | K562 | blood: | |
26 | chr13:66230680..66231446-chr13:66540896..66541772,3 | MCF-7 | breast: | |
27 | chr13:66901663..66903255-chr13:66906195..66907818,2 | K562 | blood: | |
28 | chr13:66014665..66017459-chr13:66017619..66020223,2 | MCF-7 | breast: | |
29 | chr13:66909684..66911530-chr13:66916300..66919201,2 | K562 | blood: | |
30 | chr13:66725373..66727381-chr13:66728791..66730521,2 | K562 | blood: | |
31 | chr13:66377468..66378968-chr8:43092929..43094908,2 | MCF-7 | breast: | |
32 | chr13:65045929..65046727-chr13:66212514..66213321,2 | MCF-7 | breast: | |
33 | chr13:65802985..65805270-chr13:66070535..66073117,2 | K562 | blood: | |
34 | chr13:66296680..66298971-chr13:66300615..66302352,2 | MCF-7 | breast: | |
35 | chr13:66363582..66364363-chr21:32786060..32786817,2 | MCF-7 | breast: | |
36 | chr13:66677587..66680337-chr13:66682446..66685267,2 | K562 | blood: | |
37 | chr13:66355137..66357196-chr13:66362374..66364366,2 | K562 | blood: | |
38 | chr1:106318966..106319467-chr13:66093606..66094106,2 | NB4 | blood: | |
39 | chr13:66879908..66881972-chr13:66902872..66904425,2 | K562 | blood: | |
40 | chr12:28240626..28241152-chr13:66662383..66662898,2 | MCF-7 | breast: | |
41 | chr13:66582815..66585533-chr13:66632919..66634778,2 | K562 | blood: | |
42 | chr13:66606276..66609107-chr13:66609295..66610970,2 | MCF-7 | breast: | |
43 | chr13:66782802..66785217-chr13:66787154..66788780,2 | MCF-7 | breast: |
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-AL445989.1-26 | chr13:66843129-66844590 | NONHSAT034207 |
2 | lnc-PCDH9-7 | chr13:66035510-66035584 | NONHSAT034194 |
3 | lnc-PCDH9-1 | chr13:66805874-66806206 | ENSG00000250631 |
4 | lnc-PCDH9-7 | chr13:66017513-66017582 | NONHSAT034194 |
5 | lnc-AL445989.1-8 | chr13:66449839-66449901 | NONHSAT034197 |
6 | lnc-PCDH9-6 | chr13:66410063-66410464 | NONHSAT034195 |
7 | lnc-AL445989.1-13 | chr13:66878003-66878146 | ENSG00000234527.1 |
8 | lnc-AL445989.1-8 | chr13:66451989-66452351 | ENSG00000234767 |
9 | lnc-AL445989.1-26 | chr13:66851684-66852109 | NONHSAT034208 |
10 | lnc-AL445989.1-11 | chr13:66628093-66628119 | XLOC_010416 |
11 | lnc-AL445989.1-9 | chr13:66503637-66503853 | XLOC_010414 |
12 | lnc-AL445989.1-9 | chr13:66510419-66510480 | XLOC_010414 |
13 | lnc-PCDH9-1 | chr13:66715500-66715905 | ENSG00000250631 |
14 | lnc-PCDH9-7 | chr13:66015947-66016044 | NONHSAT034194 |
15 | lnc-AL445989.1-10 | chr13:66515195-66515334 | XLOC_010415 |
16 | lnc-AL445989.1-26 | chr13:66846998-66847098 | NONHSAT034208 |
17 | lnc-AL445989.1-10 | chr13:66546596-66551943 | XLOC_010415 |
18 | lnc-AL445989.1-13 | chr13:66897306-66897693 | ENSG00000234527.1 |
19 | lnc-AL445989.1-8 | chr13:66449839-66449901 | ENSG00000234767 |
20 | lnc-AL445989.1-11 | chr13:66569686-66569896 | XLOC_010416 |
21 | lnc-PCDH9-1 | chr13:66718649-66718753 | ENSG00000250631 |
22 | lnc-AL445989.1-8 | chr13:66451989-66452351 | NONHSAT034197 |
23 | lnc-AL445989.1-8 | chr13:66440306-66440375 | ENSG00000234767 |
24 | lnc-AL445989.1-8 | chr13:66440195-66440400 | NONHSAT034197 |
25 | lnc-PCDH9-6 | chr13:66430425-66430559 | NONHSAT034195 |
26 | lnc-AL445989.1-26 | chr13:66844520-66844603 | NONHSAT034208 |
27 | lnc-AL445989.1-11 | chr13:66569993-66570140 | XLOC_010416 |
miRNA name | Chromosome Location | mirBase accession |
---|---|---|
hsa-miR-4704-5p | chr13:66792391-66792412 | MIMAT0019803 |
hsa-miR-548x-3p | chr13:66540484-66540503 | MIMAT0015081 |
hsa-miR-4704-3p | chr13:66792428-66792449 | MIMAT0019804 |
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No. | miRNA target gene | miRNA name | Chromosome Location | mirBase accession |
---|---|---|---|---|
1 | PCDH9 | hsa-miR-155-5p | chr13:66878327-66878320 | |
2 | PCDH9 | hsa-miR-155-5p | chr13:66878321-66878343 | |
3 | PCDH9 | hsa-miR-155-5p | chr13:66877756-66877779 |
Variant related genes | Relation type |
---|---|
MIR4704 | TF binding region |
MIR548X2 | TF binding region |
TRIM60P19 | TF binding region |
HNRNPA3P5 | TF binding region |
PCDH9-AS1 | TF binding region |
ENSG00000221685 | TF binding region |
LINC01052 | TF binding region |
MIR4704 | CpG island |
MIR548X2 | CpG island |
TRIM60P19 | CpG island |
HNRNPA3P5 | CpG island |
PCDH9-AS1 | CpG island |
ENSG00000221685 | CpG island |
LINC01052 | CpG island |
ENSG00000236565 | chromatin interactions |
INO80D | miRNA target sites |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs572383813 | chr13:65990810-65990811 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs34752424 | chr13:65990818-65990819 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs397851936 | chr13:65990820-65990821 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs567879150 | chr13:65990837-65990838 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs541212486 | chr13:65990886-65990887 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs183233810 | chr13:65990977-65990978 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs188688185 | chr13:65990984-65990985 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs371556749 | chr13:65990985-65990986 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs550399590 | chr13:65990992-65990993 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs193000131 | chr13:65991038-65991039 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs540057864 | chr13:65991067-65991068 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs74090551 | chr13:65991130-65991131 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
13 | rs148466954 | chr13:65991138-65991139 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs183189048 | chr13:65991160-65991161 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs188127027 | chr13:65991161-65991162 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs115902096 | chr13:65991196-65991197 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs570533266 | chr13:65991197-65991198 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs564812783 | chr13:65991203-65991204 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs74090552 | chr13:65991272-65991273 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
20 | rs34660614 | chr13:65991319-65991320 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs532191155 | chr13:65991410-65991411 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs368226582 | chr13:65991427-65991428 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs555956859 | chr13:65991446-65991447 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs371373581 | chr13:65991448-65991449 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs535005398 | chr13:65991473-65991474 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs575817281 | chr13:65991553-65991554 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs535389388 | chr13:65991572-65991573 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs553588591 | chr13:65991578-65991579 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs578188164 | chr13:65991616-65991617 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs555632107 | chr13:65991675-65991676 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs146472616 | chr13:65991680-65991681 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs376624037 | chr13:65991706-65991707 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs541423456 | chr13:65991785-65991786 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs191154875 | chr13:65991858-65991859 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs578157829 | chr13:65991862-65991863 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs9598973 | chr13:65991906-65991907 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
37 | rs563904619 | chr13:65991920-65991921 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs529485081 | chr13:65991927-65991928 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs183695924 | chr13:65991928-65991929 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs560007496 | chr13:65991943-65991944 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs528735181 | chr13:65991960-65991961 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs189145693 | chr13:65991987-65991988 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs539183584 | chr13:65992019-65992020 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs140928012 | chr13:65992050-65992051 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs60122996 | chr13:65992059-65992060 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
46 | rs73510678 | chr13:65992131-65992132 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
47 | rs576188952 | chr13:65992142-65992143 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs143235751 | chr13:65992168-65992169 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs565965865 | chr13:65992177-65992178 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs534584371 | chr13:65992243-65992244 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
HIV/AIDS | 22032296 | CNVD |
Prostate cancer | 16705090 | CNVD |
High-proliferative meningiomas | 17937814 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Intellectual disability | 22102821 | CNVD |
Cancer | 20164919 | CNVD |
Autism | 22495311 | CNVD |
Chordoma | 21602918 | CNVD |
Bladder cancer | 21949216 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Burkitt''s lymphoma | 18698080 | CNVD |
Cancer | 21637783 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Chronic lymphocytic leukemia | 21518781 | CNVD |
colon cancer | 17210682 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Colorectal cancer | 20709793 | CNVD |
Astrocytoma | 17387387 | CNVD |
Breast cancer | 21264507 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Glioblastoma multiforme | 17387387 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Ovarian cancer | 20844748 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Intracranial aneurysm | 19064780 | CNVD |
Breast cancer | 19287154 | CNVD |
Acute myeloid leukemia | 18379011 | CNVD |
Human rectal carcinomas | 16397240 | CNVD |
Olfactory neuroblastoma | 18408657 | CNVD |
Multiple myeloma | 17077331 | CNVD |
Ependymoma | 16718352 | CNVD |
Oral squamous cell carcinoma | 17134496 | CNVD |
Colorectal cancer | 16272173 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Squamous cell cancer | 20885788 | CNVD |
Myeloproliferative neoplasm | 20015882 | CNVD |
Thyroid cancer | 19087340 | CNVD |
Gastrointestinal stromal cancer | 16982739 | CNVD |
Breast cancer | 16608533 | CNVD |
Neuroblastoma | 18923191 | CNVD |
Ovarian cancer | 22174824 | CNVD |
Breast cancer | 17133270 | CNVD |
Myoepithelioma | 18604193 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Acute lymphoblastic leukemia | 21098271 | CNVD |
Prostate cancer | 16573809 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Paraganglioma | 21461997 | CNVD |
Pheochromocytoma | 21461997 | CNVD |
Acute lymphoblastic leukemia | 17690704 | CNVD |
Prostate cancer | 17245344 | CNVD |
Prostate cancer | 18632612 | CNVD |
Colorectal cancer | 21586687 | CNVD |
Small bowel adenocarcinoma | 21586687 | CNVD |
Retinoblastoma | 19183342 | CNVD |
Developmental delay | 21147756 | CNVD |
Melanoma | 18172304 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Merkel cell carcinoma | 19020549 | CNVD |
Basal cell lymphoma | 17053054 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Non-syndromic sensorineural hearing loss | 18496225 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Multiple myeloma | 17550852 | CNVD |
Breast cancer | 21858162 | CNVD |
Glioblastoma multiforme | 21922591 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
Gastric cancer | 17908304 | CNVD |
Glioblastoma multiforme | 21750150 | CNVD |
Breast cancer | 17603634 | CNVD |
Cancer | 21183584 | CNVD |
Breast cancer | 17393978 | CNVD |
Splenic marginal zone lymphoma | 18492102 | CNVD |
Liposarcoma | 21253554 | CNVD |
Gastrointestinal stromal cancer | 20818650 | CNVD |
head and neck squamous cell carcinoma | 17671120 | CNVD |
Colorectal cancer | 16774939 | CNVD |
Adenoid cystic carcinoma | 17372589 | CNVD |
abnormal development | 18461090 | CNVD |
Acute promyelocytic leukemia | 19109227 | CNVD |
Chronic lymphocytic leukemia | 20421269 | CNVD |
Acute lymphoblastic leukemia | 21980252 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Lung cancer | 18438408 | CNVD |
Non-syndromic sensorineural hearing loss | 20606397 | CNVD |
Prostate cancer | 16461572 | CNVD |
Congenital anomalies of the kidney and urinary tract | 18316590 | CNVD |
Intellectual disability | 21811512 | CNVD |
Colorectal cancer | 21645411 | CNVD |
Melanoma | 20877625 | CNVD |
T-cell lymphomas | 22341440 | CNVD |
Breast cancer | 22522925 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
Bipolar disorder | 19114987 | CNVD |
Schizophrenia | 20967226 | CNVD |
Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
Schizophrenia | 23813976 | CNVD |
Prostate cancer | 22341455 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr13:65990800-65991200 | Enhancers | Fetal Lung | lung |
2 | chr13:65991200-65992200 | Weak transcription | Fetal Lung | lung |
3 | chr13:65992000-65992400 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
4 | chr13:65992000-65993400 | Enhancers | Fetal Kidney | kidney |
5 | chr13:65992200-65992400 | Enhancers | Fetal Lung | lung |
6 | chr13:65992200-65992600 | Enhancers | HUES48 Cell Line | embryonic stem cell |
7 | chr13:65992600-65993800 | Weak transcription | HUES48 Cell Line | embryonic stem cell |
8 | chr13:65992800-65993800 | Enhancers | Brain Germinal Matrix | brain |
9 | chr13:65993800-65994200 | Enhancers | HUES48 Cell Line | embryonic stem cell |
10 | chr13:65993800-65994400 | Enhancers | HUES64 Cell Line | embryonic stem cell |
11 | chr13:66009000-66010400 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |
12 | chr13:66009400-66010200 | ZNF genes & repeats | HUES64 Cell Line | embryonic stem cell |
13 | chr13:66009600-66010200 | ZNF genes & repeats | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
14 | chr13:66009800-66010200 | ZNF genes & repeats | iPS DF 6.9 Cell Line | embryonic stem cell |
15 | chr13:66010200-66015800 | Weak transcription | iPS DF 6.9 Cell Line | embryonic stem cell |
16 | chr13:66010200-66031600 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
17 | chr13:66015800-66016000 | ZNF genes & repeats | iPS DF 6.9 Cell Line | embryonic stem cell |
18 | chr13:66016000-66018600 | Weak transcription | iPS DF 6.9 Cell Line | embryonic stem cell |
19 | chr13:66018800-66019000 | Enhancers | iPS DF 6.9 Cell Line | embryonic stem cell |
20 | chr13:66028200-66028800 | Enhancers | Primary hematopoietic stem cells short term culture | blood |
21 | chr13:66031600-66031800 | ZNF genes & repeats | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
22 | chr13:66031800-66035800 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
23 | chr13:66033400-66034000 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
24 | chr13:66033400-66036000 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
25 | chr13:66033600-66034000 | Enhancers | HUES48 Cell Line | embryonic stem cell |
26 | chr13:66033600-66036200 | Enhancers | HUES64 Cell Line | embryonic stem cell |
27 | chr13:66033800-66034800 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
28 | chr13:66033800-66035800 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
29 | chr13:66034000-66034200 | Flanking Active TSS | HUES48 Cell Line | embryonic stem cell |
30 | chr13:66034000-66034200 | Enhancers | IMR90 fetal lung fibroblasts Cell Line | lung |
31 | chr13:66034000-66034400 | Active TSS | iPS-20b Cell Line | embryonic stem cell |
32 | chr13:66034200-66034400 | Enhancers | HUES48 Cell Line | embryonic stem cell |
33 | chr13:66034400-66034600 | Flanking Active TSS | HUES48 Cell Line | embryonic stem cell |
34 | chr13:66034400-66034800 | Flanking Active TSS | iPS-20b Cell Line | embryonic stem cell |
35 | chr13:66034400-66035600 | Weak transcription | IMR90 fetal lung fibroblasts Cell Line | lung |
36 | chr13:66034400-66036000 | Enhancers | HUES6 Cell Line | embryonic stem cell |
37 | chr13:66034600-66036200 | Enhancers | HUES48 Cell Line | embryonic stem cell |
38 | chr13:66034800-66036000 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
39 | chr13:66035400-66036200 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
40 | chr13:66035600-66036000 | Enhancers | H1 Cell Line | embryonic stem cell |
41 | chr13:66035600-66036000 | Enhancers | Adipose Nuclei | Adipose |
42 | chr13:66035600-66036200 | Enhancers | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
43 | chr13:66035600-66036200 | Enhancers | IMR90 fetal lung fibroblasts Cell Line | lung |
44 | chr13:66035600-66036400 | Enhancers | H9 Cell Line | embryonic stem cell |
45 | chr13:66035600-66036400 | Enhancers | Hela-S3 | cervix |
46 | chr13:66035800-66036200 | Enhancers | Muscle Satellite Cultured Cells | -- |
47 | chr13:66035800-66036400 | Enhancers | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
48 | chr13:66041600-66042400 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
49 | chr13:66041600-66044400 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Female | -- |
50 | chr13:66041800-66043800 | Enhancers | Primary hematopoietic stem cells | blood |