Variant report
Variant | nsv1044540 |
---|---|
Chromosome Location | chr13:90509098-91497974 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:4481)
- CpG islands (count:793)
- Chromatin interactive region (count:441)
- LncRNA region (count:55)
- Mature miRNA region (count: 1)
- miRNA target sites (count:0)
No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | ARID3A | chr13:90551614-90552641 | HepG2 | liver: | n/a | n/a |
2 | ARID3A | chr13:90764747-90764925 | K562 | blood: | n/a | n/a |
3 | ARID3A | chr13:90783636-90783652 | K562 | blood: | n/a | n/a |
4 | ARID3A | chr13:90749033-90749172 | K562 | blood: | n/a | n/a |
5 | ARID3A | chr13:90723185-90723815 | HepG2 | liver: | n/a | n/a |
6 | ARID3A | chr13:90625281-90625544 | K562 | blood: | n/a | n/a |
7 | ARID3A | chr13:90682174-90682341 | K562 | blood: | n/a | n/a |
8 | ARID3A | chr13:90720372-90720449 | K562 | blood: | n/a | n/a |
9 | ARID3A | chr13:90520785-90520820 | K562 | blood: | n/a | n/a |
10 | ARID3A | chr13:90512718-90512791 | K562 | blood: | n/a | n/a |
11 | ARID3A | chr13:90733837-90733909 | K562 | blood: | n/a | n/a |
12 | ARID3A | chr13:90585018-90585218 | K562 | blood: | n/a | n/a |
13 | ARID3A | chr13:90577420-90577637 | HepG2 | liver: | n/a | n/a |
14 | ARID3A | chr13:90585014-90585385 | HepG2 | liver: | n/a | n/a |
15 | ARID3A | chr13:90798775-90798825 | K562 | blood: | n/a | n/a |
16 | ARID3A | chr13:90926329-90926406 | K562 | blood: | n/a | n/a |
17 | ARID3A | chr13:90644313-90644329 | K562 | blood: | n/a | n/a |
18 | ATF1 | chr13:90523739-90524152 | K562 | blood: | n/a | n/a |
19 | ATF1 | chr13:90778489-90779075 | K562 | blood: | n/a | n/a |
20 | ATF1 | chr13:90839349-90840283 | K562 | blood: | n/a | n/a |
21 | ATF1 | chr13:90816261-90816303 | K562 | blood: | n/a | n/a |
22 | ATF1 | chr13:90838752-90838825 | K562 | blood: | n/a | n/a |
23 | ATF1 | chr13:90691066-90691404 | K562 | blood: | n/a | n/a |
24 | ATF1 | chr13:90828106-90828481 | K562 | blood: | n/a | n/a |
25 | ATF1 | chr13:90849252-90849459 | K562 | blood: | n/a | n/a |
26 | ATF1 | chr13:91032275-91032373 | K562 | blood: | n/a | n/a |
27 | ATF1 | chr13:91435863-91435882 | K562 | blood: | n/a | n/a |
28 | ATF1 | chr13:90530348-90530819 | K562 | blood: | n/a | n/a |
29 | ATF1 | chr13:90653192-90653460 | K562 | blood: | n/a | n/a |
30 | ATF1 | chr13:90673006-90673202 | K562 | blood: | n/a | n/a |
31 | ATF1 | chr13:91163881-91163893 | K562 | blood: | n/a | n/a |
32 | ATF1 | chr13:90685864-90686469 | K562 | blood: | n/a | n/a |
33 | ATF1 | chr13:91194574-91194600 | K562 | blood: | n/a | n/a |
34 | ATF1 | chr13:90790690-90791000 | K562 | blood: | n/a | n/a |
35 | ATF1 | chr13:90777427-90777622 | K562 | blood: | n/a | n/a |
36 | ATF1 | chr13:90997595-90998055 | K562 | blood: | n/a | n/a |
37 | ATF1 | chr13:90846329-90846695 | K562 | blood: | n/a | n/a |
38 | ATF1 | chr13:90969693-90969976 | K562 | blood: | n/a | n/a |
39 | ATF1 | chr13:90976210-90976691 | K562 | blood: | n/a | n/a |
40 | ATF1 | chr13:90709492-90709697 | K562 | blood: | n/a | n/a |
41 | ATF1 | chr13:90935846-90936016 | K562 | blood: | n/a | n/a |
42 | ATF1 | chr13:90621919-90622106 | K562 | blood: | n/a | n/a |
43 | ATF1 | chr13:90966644-90966898 | K562 | blood: | n/a | n/a |
44 | ATF1 | chr13:91446628-91446734 | K562 | blood: | n/a | n/a |
45 | ATF1 | chr13:90811429-90811540 | K562 | blood: | n/a | n/a |
46 | ATF1 | chr13:90729840-90730040 | K562 | blood: | n/a | n/a |
47 | ATF1 | chr13:90862596-90862633 | K562 | blood: | n/a | n/a |
48 | ATF1 | chr13:91029032-91029061 | K562 | blood: | n/a | n/a |
49 | ATF1 | chr13:90562006-90562368 | K562 | blood: | n/a | n/a |
50 | ATF1 | chr13:91015211-91015331 | K562 | blood: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr13:91049886-91049936 | Hepatocyte | liver: | n/a |
2 | chr13:91444330-91444380 | SK-N-SH_RA | brain: | n/a |
3 | chr13:91370196-91370246 | AoSMC | blood vessel: | n/a |
4 | chr13:91067121-91067171 | PANC-1 | pancreas: | n/a |
5 | chr13:90661319-90661369 | NB4 | blood: | n/a |
6 | chr13:90536270-90536320 | SK-N-MC | brain: | n/a |
7 | chr13:90661319-90661369 | K562 | blood: | n/a |
8 | chr13:91444330-91444380 | K562 | blood: | n/a |
9 | chr13:91148255-91148305 | Jurkat | blood: | n/a |
10 | chr13:91148255-91148305 | BE2_C | brain: | n/a |
11 | chr13:91444330-91444380 | HPAEpiC | pulmonary alveolar: | n/a |
12 | chr13:91147296-91147346 | U87 | brain: | n/a |
13 | chr13:91145493-91145543 | AG10803 | skin: | n/a |
14 | chr13:91067121-91067171 | HNPCEpiC | eye: | n/a |
15 | chr13:91148255-91148305 | HRE | kidney: | n/a |
16 | chr13:91370196-91370246 | AG04450 | lung: | fetal |
17 | chr13:90557520-90557570 | HNPCEpiC | eye: | n/a |
18 | chr13:91148429-91148479 | GM12878 | blood: | n/a |
19 | chr13:91148429-91148479 | ProgFib | skin: | n/a |
20 | chr13:90661319-90661369 | HNPCEpiC | eye: | n/a |
21 | chr13:91147145-91147195 | LNCaP | prostate: | n/a |
22 | chr13:91444330-91444380 | GM06990 | blood: | n/a |
23 | chr13:91370196-91370246 | SK-N-MC | brain: | n/a |
24 | chr13:90661319-90661369 | HRE | kidney: | n/a |
25 | chr13:91147296-91147346 | T-47D | breast: | n/a |
26 | chr13:91147145-91147195 | HAEpiC | amniotic membrane: | n/a |
27 | chr13:90536270-90536320 | H1-hESC | embryonic stem cell: | embryo |
28 | chr13:91370196-91370246 | PANC-1 | pancreas: | n/a |
29 | chr13:91147296-91147346 | AG04449 | skin: | fetal |
30 | chr13:91148429-91148479 | RPTEC | kidney: | n/a |
31 | chr13:91148255-91148305 | AG04449 | skin: | fetal |
32 | chr13:90661319-90661369 | SKMC | muscle: | n/a |
33 | chr13:91067121-91067171 | HIPEpiC | eye: | n/a |
34 | chr13:90661319-90661369 | HMEC | breast: | n/a |
35 | chr13:91148255-91148305 | NT2-D1 | testis: | n/a |
36 | chr13:90536270-90536320 | HCT-116 | colon: | n/a |
37 | chr13:91001297-91001347 | HEK293 | kidney: | embryo |
38 | chr13:90557520-90557570 | HCT-116 | colon: | n/a |
39 | chr13:91147145-91147195 | HCF | heart: | n/a |
40 | chr13:90557520-90557570 | RPTEC | kidney: | n/a |
41 | chr13:90536270-90536320 | SK-N-SH_RA | brain: | n/a |
42 | chr13:91148255-91148305 | HEK293 | kidney: | embryo |
43 | chr13:91444330-91444380 | HUVEC | blood vessel: | n/a |
44 | chr13:91049886-91049936 | AoSMC | blood vessel: | n/a |
45 | chr13:91444330-91444380 | HNPCEpiC | eye: | n/a |
46 | chr13:90536270-90536320 | HAEpiC | amniotic membrane: | n/a |
47 | chr13:91147296-91147346 | GM06990 | blood: | n/a |
48 | chr13:91147145-91147195 | AG09319 | gingival: | n/a |
49 | chr13:90536270-90536320 | AG04449 | skin: | fetal |
50 | chr13:90661319-90661369 | GM12892 | blood: | n/a |
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr13:91349243..91351588-chr13:91352748..91354273,2 | K562 | blood: | |
2 | chr13:91140988..91143358-chr13:91144139..91145946,2 | K562 | blood: | |
3 | chr13:91439671..91442457-chr13:91445556..91447542,2 | K562 | blood: | |
4 | chr13:91247262..91250032-chr13:91253392..91255538,2 | K562 | blood: | |
5 | chr13:90576287..90578487-chr13:90579534..90581109,2 | K562 | blood: | |
6 | chr13:91083367..91085803-chr13:91089644..91092605,2 | K562 | blood: | |
7 | chr13:90903953..90906815-chr13:90913754..90915994,2 | K562 | blood: | |
8 | chr13:91484274..91486424-chr13:91488601..91491228,2 | K562 | blood: | |
9 | chr13:90602501..90604357-chr13:90604768..90606824,2 | K562 | blood: | |
10 | chr13:90903953..90906815-chr13:90913754..90915994,2 | K562 | blood: | |
11 | chr13:91008774..91011603-chr13:91011621..91013746,2 | K562 | blood: | |
12 | chr13:90583690..90586712-chr3:73158444..73161594,14 | K562 | blood: | |
13 | chr13:91432824..91434875-chr13:91438530..91440355,2 | K562 | blood: | |
14 | chr13:91009317..91011999-chr13:91013182..91015844,2 | MCF-7 | breast: | |
15 | chr13:90744066..90745790-chr13:90748572..90750382,2 | K562 | blood: | |
16 | chr13:91211018..91212874-chr13:91213382..91215314,2 | K562 | blood: | |
17 | chr13:91297933..91299729-chr13:91301199..91303508,2 | K562 | blood: | |
18 | chr13:91476407..91478325-chr13:91478459..91480766,2 | K562 | blood: | |
19 | chr13:91071564..91073402-chr13:91080703..91083181,2 | K562 | blood: | |
20 | chr13:91260790..91263429-chr13:91267813..91271403,3 | K562 | blood: | |
21 | chr13:91364756..91367475-chr13:91371111..91372736,2 | K562 | blood: | |
22 | chr1:160082468..160083985-chr13:90583692..90585215,3 | K562 | blood: | |
23 | chr13:90658350..90660347-chr13:90668884..90670717,2 | K562 | blood: | |
24 | chr13:91234454..91236037-chr13:91238963..91241701,2 | K562 | blood: | |
25 | chr13:91484251..91485979-chr13:91485987..91488244,2 | MCF-7 | breast: | |
26 | chr13:90760228..90761976-chr13:90768337..90770152,2 | K562 | blood: | |
27 | chr13:90706547..90709956-chr13:90713211..90716180,4 | K562 | blood: | |
28 | chr13:90848833..90851236-chr13:90855883..90857949,2 | K562 | blood: | |
29 | chr13:91388607..91390699-chr13:91400453..91402426,2 | K562 | blood: | |
30 | chr13:91091083..91093463-chr13:91096416..91098590,2 | MCF-7 | breast: | |
31 | chr13:90583687..90586713-chr17:41380286..41383689,12 | K562 | blood: | |
32 | chr13:91256256..91258154-chr13:91258437..91261292,2 | K562 | blood: | |
33 | chr1:160082466..160083968-chr13:90583692..90585197,2 | K562 | blood: | |
34 | chr13:90760884..90762558-chr13:90777386..90780002,2 | K562 | blood: | |
35 | chr13:91231249..91234232-chr13:91237592..91239093,2 | K562 | blood: | |
36 | chr11:62607620..62610723-chr13:90583688..90586715,22 | K562 | blood: | |
37 | chr13:91371605..91374242-chr13:91376035..91378263,2 | K562 | blood: | |
38 | chr13:90559611..90562586-chr13:90563397..90565407,2 | K562 | blood: | |
39 | chr13:91159013..91162003-chr13:91168302..91170845,2 | K562 | blood: | |
40 | chr13:90585210..90586713-chr17:41438934..41440457,2 | MCF-7 | breast: | |
41 | chr13:90511605..90514028-chr13:90549100..90551730,2 | K562 | blood: | |
42 | chr13:90855976..90857785-chr13:90859917..90862023,2 | K562 | blood: | |
43 | chr13:91310896..91312962-chr13:91313436..91315907,3 | K562 | blood: | |
44 | chr13:90680163..90682720-chr13:90682917..90684515,2 | MCF-7 | breast: | |
45 | chr13:90567117..90569538-chr13:90570624..90572320,2 | K562 | blood: | |
46 | chr13:90995660..90999861-chr13:91002219..91006102,4 | K562 | blood: | |
47 | chr13:91250027..91251992-chr13:91254709..91256250,2 | K562 | blood: | |
48 | chr13:91294499..91296601-chr13:91299177..91301088,2 | K562 | blood: | |
49 | chr13:90855976..90857785-chr13:90859917..90862023,2 | K562 | blood: | |
50 | chr13:91484251..91485979-chr13:91485987..91488244,2 | MCF-7 | breast: |
No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-DCT-10 | chr13:90771027-90771971 | NONHSAT034642 |
2 | lnc-GPC5-10 | chr13:90799953-90800025 | ucscGeneNc_uc001vlq_1 |
3 | lnc-GPC5-3 | chr13:91187009-91187334 | ENSG00000234384 |
4 | lnc-SLITRK6-28 | chr13:90580934-90581047 | l_900_chr13:90577875-90581583_kidney |
5 | lnc-GPC5-3 | chr13:91150464-91150519 | XLOC_010469 |
6 | lnc-GPC5-10 | chr13:90800411-90800481 | ucscGeneNc_uc001vlq_1 |
7 | lnc-GPC5-10 | chr13:90800411-90800481 | NONHSAT034645 |
8 | lnc-GPC5-10 | chr13:90804188-90804830 | ucscGeneNc_uc001vlq_1 |
9 | lnc-DCT-10 | chr13:90760108-90760794 | NONHSAT034643 |
10 | lnc-GPC5-3 | chr13:91150464-91150519 | ENSG00000234384 |
11 | lnc-GPC5-8 | chr13:90951775-90951821 | NONHSAT034648 |
12 | lnc-SLITRK6-28 | chr13:90581478-90581620 | NONHSAT034639 |
13 | lnc-GPC5-3 | chr13:91185030-91185074 | XLOC_010469 |
14 | lnc-GPC5-3 | chr13:91185030-91185074 | ENSG00000234384 |
15 | lnc-GPC5-3 | chr13:91187009-91187593 | XLOC_010469 |
16 | lnc-DCT-10 | chr13:90718982-90719064 | NONHSAT034642 |
17 | lnc-GPC5-9 | chr13:90823120-90824053 | NONHSAT034646 |
18 | lnc-GPC5-8 | chr13:90943495-90943667 | NONHSAT034648 |
19 | lnc-GPC5-3 | chr13:91179654-91179752 | NONHSAT034649 |
20 | lnc-DCT-10 | chr13:90731381-90731516 | NONHSAT034642 |
21 | lnc-GPC5-10 | chr13:90798075-90798214 | NONHSAT034645 |
22 | lnc-GPC5-3 | chr13:91165742-91165826 | NONHSAT034649 |
23 | lnc-DCT-10 | chr13:90731381-90731516 | ENSG00000261446.1 |
24 | lnc-GPC5-3 | chr13:91150464-91150519 | NONHSAT034649 |
25 | lnc-GPC5-3 | chr13:91145542-91145671 | NONHSAT034649 |
26 | lnc-DCT-10 | chr13:90758189-90758456 | NONHSAT034643 |
27 | lnc-SLITRK6-28 | chr13:90580934-90581047 | NONHSAT034639 |
28 | lnc-SLITRK6-27 | chr13:90539777-90539848 | NONHSAT034637 |
29 | lnc-SLITRK6-28 | chr13:90577868-90578113 | NONHSAT034638 |
30 | lnc-GPC5-8 | chr13:90952694-90952895 | NONHSAT034648 |
31 | lnc-GPC5-3 | chr13:91187009-91187596 | NONHSAT034649 |
32 | lnc-DCT-10 | chr13:90758837-90760915 | NONHSAT034642 |
33 | lnc-GPC5-10 | chr13:90804188-90804834 | NONHSAT034645 |
34 | lnc-GPC5-3 | chr13:91145542-91145671 | XLOC_010469 |
35 | lnc-SLITRK6-28 | chr13:90577876-90578113 | l_900_chr13:90577875-90581583_kidney |
36 | lnc-GPC5-3 | chr13:91185030-91185074 | NONHSAT034649 |
37 | lnc-DCT-10 | chr13:90758201-90758456 | NONHSAT034642 |
38 | lnc-DCT-10 | chr13:90718982-90719064 | ENSG00000261446.1 |
39 | lnc-GPC5-3 | chr13:91179654-91179752 | XLOC_010469 |
40 | lnc-GPC5-3 | chr13:91179654-91179752 | ENSG00000234384 |
41 | lnc-DCT-10 | chr13:90771027-90771973 | ENSG00000261446.1 |
42 | lnc-GPC5-10 | chr13:90799953-90800025 | NONHSAT034645 |
43 | lnc-GPC5-10 | chr13:90798075-90798214 | ucscGeneNc_uc001vlq_1 |
44 | lnc-GPC5-3 | chr13:91165742-91165826 | XLOC_010469 |
45 | lnc-GPC5-3 | chr13:91165742-91165826 | ENSG00000234384 |
46 | lnc-GPC5-8 | chr13:90942129-90942263 | NONHSAT034648 |
47 | lnc-SLITRK6-28 | chr13:90581478-90581583 | l_900_chr13:90577875-90581583_kidney |
48 | lnc-SLITRK6-28 | chr13:90581478-90581662 | NONHSAT034638 |
49 | lnc-SLITRK6-27 | chr13:90537509-90537789 | NONHSAT034637 |
50 | lnc-DCT-10 | chr13:90712501-90712866 | NONHSAT034642 |
miRNA name | Chromosome Location | mirBase accession |
---|---|---|
hsa-miR-622 | chr13:90883496-90883516 | MIMAT0003291 |
No data |
Variant related genes | Relation type |
---|---|
KRT18P27 | TF binding region |
LINC01049 | TF binding region |
LINC00559 | TF binding region |
FAR1P1 | TF binding region |
PEX12P1 | TF binding region |
MIR622 | TF binding region |
RNU6-75P | TF binding region |
RNA5SP34 | TF binding region |
KRT18P27 | CpG island |
LINC01049 | CpG island |
LINC00559 | CpG island |
FAR1P1 | CpG island |
PEX12P1 | CpG island |
MIR622 | CpG island |
RNU6-75P | CpG island |
RNA5SP34 | CpG island |
ENSG00000099999 | chromatin interactions |
ENSG00000222414 | chromatin interactions |
ENSG00000188825 | chromatin interactions |
ENSG00000251753 | chromatin interactions |
ENSG00000261446 | chromatin interactions |
ENSG00000215417 | chromatin interactions |
ENSG00000225936 | chromatin interactions |
ENSG00000111057 | chromatin interactions |
ENSG00000236905 | chromatin interactions |
ENSG00000234384 | chromatin interactions |
ENSG00000167658 | chromatin interactions |
ENSG00000130304 | chromatin interactions |
ENSG00000110700 | chromatin interactions |
ENSG00000148308 | chromatin interactions |
ENSG00000207858 | chromatin interactions |
ENSG00000067596 | chromatin interactions |
ENSG00000223247 | chromatin interactions |
ENSG00000133316 | chromatin interactions |
ENSG00000236383 | chromatin interactions |
ENSG00000234227 | chromatin interactions |
KRAS | Mature miRNA region |
PTEN | miRNA target sites |
MEIS1 | miRNA target sites |
ARNTL | miRNA target sites |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs560163199 | chr13:90514624-90514625 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs542892149 | chr13:90514789-90514790 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs113772945 | chr13:90514811-90514812 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs572988223 | chr13:90514849-90514850 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs75889454 | chr13:90514918-90514919 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs147618759 | chr13:90514979-90514980 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs532571692 | chr13:90515013-90515014 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs564874973 | chr13:90515022-90515023 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs547590442 | chr13:90515026-90515027 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs565932549 | chr13:90515029-90515030 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs533272836 | chr13:90515030-90515031 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs189616264 | chr13:90515032-90515033 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs552252856 | chr13:90515038-90515039 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs9515644 | chr13:90515075-90515076 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
15 | rs537129966 | chr13:90515088-90515089 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs555207124 | chr13:90515104-90515105 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs183340473 | chr13:90515140-90515141 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs9515645 | chr13:90515160-90515161 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
19 | rs140474194 | chr13:90515166-90515167 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs144519037 | chr13:90515176-90515177 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs73584640 | chr13:90515195-90515196 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs546135672 | chr13:90515203-90515204 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs557708347 | chr13:90515208-90515209 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs530258431 | chr13:90515212-90515213 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs79110363 | chr13:90515215-90515216 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs186205155 | chr13:90515216-90515217 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs140387068 | chr13:90515221-90515222 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs534368701 | chr13:90515229-90515230 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs73584643 | chr13:90515250-90515251 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs541184094 | chr13:90515253-90515254 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs559625486 | chr13:90515257-90515258 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs370502835 | chr13:90515304-90515305 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs9522772 | chr13:90515320-90515321 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
34 | rs145177706 | chr13:90515344-90515345 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs9515646 | chr13:90515393-90515394 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
36 | rs548985736 | chr13:90515399-90515400 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs559881773 | chr13:90515426-90515427 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs115931888 | chr13:90515429-90515430 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs149174517 | chr13:90515438-90515439 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs547575876 | chr13:90515439-90515440 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs565960937 | chr13:90515479-90515480 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs552212706 | chr13:90515481-90515482 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs71726976 | chr13:90515486-90515487 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs148973424 | chr13:90515496-90515497 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs35950337 | chr13:90515504-90515505 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs201978630 | chr13:90515514-90515515 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs200605543 | chr13:90515515-90515516 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs61961340 | chr13:90515517-90515518 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs34122493 | chr13:90515518-90515519 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs201779306 | chr13:90515519-90515520 | Weak transcription | 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 |
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 |
Gastrointestinal stromal cancer | 16982739 | CNVD |
Breast cancer | 16608533 | CNVD |
Neuroblastoma | 18923191 | CNVD |
Ovarian cancer | 22174824 | CNVD |
Myoepithelioma | 18604193 | CNVD |
Breast cancer | 17133270 | CNVD |
Prostate cancer | 18632612 | CNVD |
Small bowel adenocarcinoma | 21586687 | CNVD |
Melanoma | 18172304 | CNVD |
Prostate cancer | 16573809 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Basal cell lymphoma | 17053054 | CNVD |
Non-syndromic sensorineural hearing loss | 18496225 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Gastric cancer | 17908304 | CNVD |
Splenic marginal zone lymphoma | 18492102 | CNVD |
Liposarcoma | 21253554 | 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 |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Esophageal cancer | 21851588 | CNVD |
Prostate cancer | 21965145 | CNVD |
Gastrointestinal stromal cancer | 20818650 | CNVD |
Cancer | 21220470 | CNVD |
Cancer | 21183584 | CNVD |
Omodysplasia | 19481194 | CNVD |
Breast cancer | 22032731 | CNVD |
Mantle cell lymphoma | 19690137 | CNVD |
Rhabdomyosarcoma | 17210683 | CNVD |
Ovarian clear cell carcinoma | 21343371 | CNVD |
Breast cancer | 21364760 | CNVD |
Medulloblastoma | 19270706 | CNVD |
Myelofibrosis | 22110671 | CNVD |
coloboma | 21285886 | CNVD |
Cancer | 20164920 | CNVD |
Burkitt''s lymphoma | 19759907 | CNVD |
Wilms tumour | 21544195 | CNVD |
Acute myeloid leukemia | 19651601 | CNVD |
Effusion lymphoma | 18079361 | CNVD |
Developmental delay | 21147756 | CNVD |
Burkitt''s lymphoma | 20823134 | CNVD |
Acute lymphoblastic leukemia | 21339820 | CNVD |
Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
Breast cancer | 22522925 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Williams Syndrome | 20824207 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr13:90514600-90515400 | Enhancers | HMEC | breast |
2 | chr13:90515000-90515400 | Enhancers | HUVEC | blood vessel |
3 | chr13:90515400-90516400 | Weak transcription | HUVEC | blood vessel |
4 | chr13:90516400-90518200 | Enhancers | HUVEC | blood vessel |
5 | chr13:90536000-90536400 | Active TSS | Cortex derived primary cultured neurospheres | brain |
6 | chr13:90543400-90544200 | Enhancers | HUVEC | blood vessel |
7 | chr13:90550400-90551800 | Enhancers | HepG2 | liver |
8 | chr13:90551800-90552000 | Flanking Active TSS | HepG2 | liver |
9 | chr13:90552000-90552400 | Enhancers | HepG2 | liver |
10 | chr13:90552200-90552600 | Enhancers | Rectal Mucosa Donor 31 | rectum |
11 | chr13:90552200-90552800 | Enhancers | HUVEC | blood vessel |
12 | chr13:90552400-90552600 | Enhancers | Muscle Satellite Cultured Cells | -- |
13 | chr13:90552400-90553400 | Flanking Active TSS | HepG2 | liver |
14 | chr13:90552600-90552800 | Flanking Active TSS | Muscle Satellite Cultured Cells | -- |
15 | chr13:90552600-90552800 | Enhancers | Foreskin Keratinocyte Primary Cells skin03 | Skin |
16 | chr13:90552600-90553000 | Active TSS | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
17 | chr13:90552600-90553000 | Active TSS | Rectal Mucosa Donor 31 | rectum |
18 | chr13:90552600-90553000 | Active TSS | NHEK | skin |
19 | chr13:90552800-90553200 | Enhancers | Muscle Satellite Cultured Cells | -- |
20 | chr13:90553400-90554200 | Enhancers | HepG2 | liver |
21 | chr13:90554200-90557200 | Weak transcription | HepG2 | liver |
22 | chr13:90557200-90557800 | Enhancers | HepG2 | liver |
23 | chr13:90557800-90558000 | Flanking Active TSS | HepG2 | liver |
24 | chr13:90558000-90558200 | Active TSS | HepG2 | liver |
25 | chr13:90558600-90559400 | Enhancers | hESC Derived CD56+ Mesoderm Cultured Cells | ES cell derived |
26 | chr13:90575200-90575800 | Enhancers | HUES6 Cell Line | embryonic stem cell |
27 | chr13:90575200-90575800 | Enhancers | HUES64 Cell Line | embryonic stem cell |
28 | chr13:90575200-90575800 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
29 | chr13:90575400-90575800 | Enhancers | H1 Cell Line | embryonic stem cell |
30 | chr13:90575400-90575800 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
31 | chr13:90575400-90575800 | Enhancers | iPS DF 6.9 Cell Line | embryonic stem cell |
32 | chr13:90575400-90576600 | Enhancers | HMEC | breast |
33 | chr13:90575600-90576600 | Enhancers | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
34 | chr13:90575800-90581200 | Weak transcription | iPS DF 6.9 Cell Line | embryonic stem cell |
35 | chr13:90576000-90576400 | Enhancers | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
36 | chr13:90576000-90576600 | Enhancers | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
37 | chr13:90576000-90576600 | Enhancers | Muscle Satellite Cultured Cells | -- |
38 | chr13:90576000-90576600 | Enhancers | Hela-S3 | cervix |
39 | chr13:90581000-90583800 | Weak transcription | Right Atrium | heart |
40 | chr13:90582400-90583600 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
41 | chr13:90582600-90583600 | Enhancers | HepG2 | liver |
42 | chr13:90583000-90583400 | Enhancers | Fetal Kidney | kidney |
43 | chr13:90583000-90583600 | Enhancers | H1 Derived Mesenchymal Stem Cells | ES cell derived |
44 | chr13:90583000-90583600 | Enhancers | HUES6 Cell Line | embryonic stem cell |
45 | chr13:90583000-90583600 | Enhancers | Sigmoid Colon | Sigmoid Colon |
46 | chr13:90583200-90583400 | Enhancers | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
47 | chr13:90583200-90583400 | Enhancers | Pancreas | Pancrea |
48 | chr13:90583200-90583600 | Enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |
49 | chr13:90585000-90585400 | Active TSS | ES-I3 Cell Line | embryonic stem cell |
50 | chr13:90585000-90585400 | Active TSS | H9 Cell Line | embryonic stem cell |