Variant report
Variant | nsv1023236 |
---|---|
Chromosome Location | chr8:11949539-12578078 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:5651)
- CpG islands (count:6417)
- Chromatin interactive region (count:5)
- LncRNA region (count:103)
- 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 | chr8:12051904-12051921 | HepG2 | liver: | n/a | n/a |
2 | ARID3A | chr8:12433133-12433253 | K562 | blood: | n/a | n/a |
3 | ATF1 | chr8:12051725-12051925 | K562 | blood: | n/a | n/a |
4 | ATF1 | chr8:12307263-12307299 | K562 | blood: | n/a | n/a |
5 | ATF1 | chr8:12435183-12435242 | K562 | blood: | n/a | n/a |
6 | ATF1 | chr8:12575782-12575929 | K562 | blood: | n/a | n/a |
7 | ATF1 | chr8:12400593-12400794 | K562 | blood: | n/a | n/a |
8 | ATF1 | chr8:12420358-12420412 | K562 | blood: | n/a | n/a |
9 | ATF1 | chr8:12417563-12417956 | K562 | blood: | n/a | n/a |
10 | ATF2 | chr8:12445730-12446477 | H1-hESC | embryonic stem cell: | n/a | n/a |
11 | ATF2 | chr8:12400598-12400937 | GM12878 | blood: | n/a | n/a |
12 | ATF2 | chr8:12400579-12400848 | GM12878 | blood: | n/a | n/a |
13 | ATF2 | chr8:12444691-12445512 | GM12878 | blood: | n/a | n/a |
14 | ATF2 | chr8:12444570-12445312 | GM12878 | blood: | n/a | n/a |
15 | BACH1 | chr8:12566201-12566397 | H1-hESC | embryonic stem cell: | n/a | n/a |
16 | BACH1 | chr8:12415419-12415446 | K562 | blood: | n/a | n/a |
17 | BACH1 | chr8:12523030-12523230 | H1-hESC | embryonic stem cell: | n/a | n/a |
18 | BATF | chr8:12323857-12324231 | GM12878 | blood: | n/a | n/a |
19 | BATF | chr8:12350272-12350570 | GM12878 | blood: | n/a | chr8:12350419-12350430 |
20 | BATF | chr8:12295678-12295878 | GM12878 | blood: | n/a | n/a |
21 | BATF | chr8:12355171-12355376 | GM12878 | blood: | n/a | n/a |
22 | BATF | chr8:12037531-12037813 | GM12878 | blood: | n/a | n/a |
23 | BATF | chr8:12400443-12400987 | GM12878 | blood: | n/a | chr8:12400955-12400964 |
24 | BATF | chr8:12385574-12385905 | GM12878 | blood: | n/a | n/a |
25 | BATF | chr8:12437849-12438015 | GM12878 | blood: | n/a | n/a |
26 | BATF | chr8:12493505-12493669 | GM12878 | blood: | n/a | n/a |
27 | BATF | chr8:12345396-12345572 | GM12878 | blood: | n/a | n/a |
28 | BATF | chr8:12516917-12517140 | GM12878 | blood: | n/a | n/a |
29 | BATF | chr8:12051326-12051536 | GM12878 | blood: | n/a | n/a |
30 | BATF | chr8:12037596-12037795 | GM12878 | blood: | n/a | n/a |
31 | BATF | chr8:12372638-12373204 | GM12878 | blood: | n/a | chr8:12372948-12372956 |
32 | BATF | chr8:12294490-12294715 | GM12878 | blood: | n/a | n/a |
33 | BATF | chr8:12400588-12400876 | GM12878 | blood: | n/a | n/a |
34 | BATF | chr8:12081356-12081721 | GM12878 | blood: | n/a | n/a |
35 | BATF | chr8:12142536-12142891 | GM12878 | blood: | n/a | n/a |
36 | BATF | chr8:12277703-12278063 | GM12878 | blood: | n/a | n/a |
37 | BATF | chr8:12409298-12409599 | GM12878 | blood: | n/a | n/a |
38 | BATF | chr8:12375358-12375560 | GM12878 | blood: | n/a | n/a |
39 | BATF | chr8:12211595-12212020 | GM12878 | blood: | n/a | n/a |
40 | BATF | chr8:12323897-12324188 | GM12878 | blood: | n/a | n/a |
41 | BATF | chr8:12380131-12380636 | GM12878 | blood: | n/a | n/a |
42 | BATF | chr8:12040152-12040516 | GM12878 | blood: | n/a | n/a |
43 | BATF | chr8:12292998-12293462 | GM12878 | blood: | n/a | n/a |
44 | BATF | chr8:12216425-12216654 | GM12878 | blood: | n/a | chr8:12216571-12216582 |
45 | BATF | chr8:12458873-12459173 | GM12878 | blood: | n/a | n/a |
46 | BATF | chr8:12035447-12035785 | GM12878 | blood: | n/a | n/a |
47 | BATF | chr8:12216425-12216722 | GM12878 | blood: | n/a | chr8:12216571-12216582 |
48 | BATF | chr8:12288337-12288636 | GM12878 | blood: | n/a | n/a |
49 | BATF | chr8:12375868-12376447 | GM12878 | blood: | n/a | n/a |
50 | BATF | chr8:12379045-12379257 | GM12878 | blood: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr8:12293513-12293563 | HAEpiC | amniotic membrane: | n/a |
2 | chr8:12052164-12052214 | NB4 | blood: | n/a |
3 | chr8:12220318-12220368 | GM19239 | blood: | n/a |
4 | chr8:12233144-12233194 | HepG2 | liver: | n/a |
5 | chr8:12572655-12572705 | Hela-S3 | cervix: | n/a |
6 | chr8:12272982-12273032 | SK-N-SH_RA | brain: | n/a |
7 | chr8:12219732-12219782 | MCF-7 | breast: | n/a |
8 | chr8:12522691-12522741 | GM06990 | blood: | n/a |
9 | chr8:12235606-12235656 | RPTEC | kidney: | n/a |
10 | chr8:12523148-12523198 | BE2_C | brain: | n/a |
11 | chr8:11989285-11989335 | NHBE | bronchial: | n/a |
12 | chr8:12293509-12293559 | MCF10A-Er-Src | breast: | n/a |
13 | chr8:12293513-12293563 | HAEpiC | amniotic membrane: | n/a |
14 | chr8:12052164-12052214 | NB4 | blood: | n/a |
15 | chr8:12220318-12220368 | GM19239 | blood: | n/a |
16 | chr8:12233144-12233194 | HepG2 | liver: | n/a |
17 | chr8:12572655-12572705 | Hela-S3 | cervix: | n/a |
18 | chr8:12272982-12273032 | SK-N-SH_RA | brain: | n/a |
19 | chr8:12219732-12219782 | MCF-7 | breast: | n/a |
20 | chr8:12522691-12522741 | GM06990 | blood: | n/a |
21 | chr8:12235606-12235656 | RPTEC | kidney: | n/a |
22 | chr8:12523148-12523198 | BE2_C | brain: | n/a |
23 | chr8:11989285-11989335 | NHBE | bronchial: | n/a |
24 | chr8:12293509-12293559 | MCF10A-Er-Src | breast: | n/a |
25 | chr8:12206841-12206891 | AG09309 | skin: | n/a |
26 | chr8:12034317-12034367 | CMK | blood: | n/a |
27 | chr8:11972998-11973048 | Caco-2 | colon: | n/a |
28 | chr8:11989285-11989335 | HL-60 | blood: | n/a |
29 | chr8:12244544-12244594 | H1-hESC | embryonic stem cell: | embryo |
30 | chr8:12522691-12522741 | U87 | brain: | n/a |
31 | chr8:12523153-12523203 | SK-N-SH_RA | brain: | n/a |
32 | chr8:12550523-12550573 | NT2-D1 | testis: | n/a |
33 | chr8:12570769-12570819 | AG10803 | skin: | n/a |
34 | chr8:11995002-11995052 | NB4 | blood: | n/a |
35 | chr8:12523153-12523203 | ProgFib | skin: | n/a |
36 | chr8:12549925-12549975 | RPTEC | kidney: | n/a |
37 | chr8:12462881-12462931 | HIPEpiC | eye: | n/a |
38 | chr8:12237626-12237676 | SK-N-SH | brain: | n/a |
39 | chr8:11996358-11996408 | GM19239 | blood: | n/a |
40 | chr8:11997496-11997546 | HAEpiC | amniotic membrane: | n/a |
41 | chr8:12572655-12572705 | PrEC | prostate: | n/a |
42 | chr8:11993787-11993837 | Caco-2 | colon: | n/a |
43 | chr8:12219732-12219782 | HEEpiC | esophagus: | n/a |
44 | chr8:12513435-12513485 | HIPEpiC | eye: | n/a |
45 | chr8:12048124-12048174 | AG09319 | gingival: | n/a |
46 | chr8:12294380-12294430 | SK-N-MC | brain: | n/a |
47 | chr8:12237900-12237950 | PFSK-1 | brain: | n/a |
48 | chr8:12549925-12549975 | NT2-D1 | testis: | n/a |
49 | chr8:12462881-12462931 | ECC-1 | luminal epithelium: | n/a |
50 | chr8:12573583-12573633 | GM12892 | blood: | n/a |
(count:5 , 50 per page) page:
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr8:12522693..12523228-chr8:12698263..12698831,2 | MCF-7 | breast: | |
2 | chr8:12565879..12566684-chr8:12698054..12698839,2 | MCF-7 | breast: | |
3 | chr11:67722873..67723411-chr8:12516978..12517495,2 | MCF-7 | breast: | |
4 | chr8:12578030..12580809-chr8:12584561..12586123,2 | MCF-7 | breast: | |
5 | chr11:3601740..3602712-chr8:12522746..12523343,2 | MCF-7 | breast: |
No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-ZNF705D-2 | chr8:12277210-12279968 | NONHSAT125139 |
2 | lnc-AC130352.1-2 | chr8:12310554-12312147 | ENSG00000215248 |
3 | lnc-ZNF705D-2 | chr8:12426979-12428991 | NONHSAT125162 |
4 | lnc-ZNF705D-2 | chr8:12428214-12428329 | NONHSAT125158 |
5 | lnc-LONRF1-2 | chr8:12452490-12452805 | ENSG00000247397 |
6 | lnc-AC130352.1-5 | chr8:12263898-12264442 | ucscGeneNc_uc010lsi_1 |
7 | lnc-ZNF705D-2 | chr8:12053532-12053747 | XLOC_006719 |
8 | lnc-ZNF705D-2 | chr8:12219891-12220071 | ENSG00000227888.3 |
9 | lnc-ZNF705D-2 | chr8:12408261-12408540 | NONHSAT125158 |
10 | lnc-FAM86B2-2 | chr8:12281922-12282230 | NONHSAT125144 |
11 | lnc-ZNF705D-2 | chr8:12052268-12052946 | XLOC_006719 |
12 | lnc-USP17L2-1 | chr8:11985367-11986806 | NONHSAT125118 |
13 | lnc-AC130352.1-4 | chr8:12270336-12271882 | ENSG00000270074.1 |
14 | lnc-ZNF705D-2 | chr8:12059991-12060129 | NONHSAT125127 |
15 | lnc-ZNF705D-2 | chr8:12388484-12388540 | NONHSAT125158 |
16 | lnc-AC130352.1-2 | chr8:12064280-12064606 | ENSG00000215248 |
17 | lnc-ZNF705D-2 | chr8:12245467-12245528 | NONHSAT125138 |
18 | lnc-ZNF705D-2 | chr8:12423395-12424354 | NONHSAT125127 |
19 | lnc-ZNF705D-2 | chr8:12406996-12408558 | NONHSAT125148 |
20 | lnc-LONRF1-2 | chr8:12465434-12465499 | NONHSAT125168 |
21 | lnc-ZNF705D-3 | chr8:12298478-12298570 | XLOC_006721 |
22 | lnc-ZNF705D-2 | chr8:12298509-12298570 | NONHSAT125147 |
23 | lnc-ZNF705D-2 | chr8:12294522-12295219 | NONHSAT125147 |
24 | lnc-ZNF705D-2 | chr8:12423395-12424354 | NONHSAT125147 |
25 | lnc-ZNF705D-2 | chr8:12388452-12388540 | NONHSAT125147 |
26 | lnc-ZNF705D-3 | chr8:12299097-12299198 | XLOC_006721 |
27 | lnc-ZNF705D-2 | chr8:12056244-12056305 | NONHSAT125127 |
28 | lnc-ZNF705D-2 | chr8:12338387-12338444 | NONHSAT125158 |
29 | lnc-ZNF705D-2 | chr8:12388452-12388540 | NONHSAT125148 |
30 | lnc-ZNF705D-2 | chr8:12245248-12245374 | NONHSAT125139 |
31 | lnc-ZNF705D-2 | chr8:12298478-12298570 | NONHSAT125148 |
32 | lnc-ZNF705D-2 | chr8:12245467-12245528 | ENSG00000227888.3 |
33 | lnc-ZNF705D-2 | chr8:12034324-12034474 | NONHSAT125117 |
34 | lnc-LONRF1-2 | chr8:12455144-12455546 | ENSG00000247397 |
35 | lnc-ZNF705D-2 | chr8:11973699-11973834 | NONHSAT125117 |
36 | lnc-LONRF1-2 | chr8:12516639-12517553 | NONHSAT125168 |
37 | lnc-ZNF705D-2 | chr8:12295673-12296020 | NONHSAT125147 |
38 | lnc-ZNF705D-2 | chr8:12276651-12276793 | NONHSAT125139 |
39 | lnc-ZNF705D-2 | chr8:12250716-12250979 | NONHSAT125138 |
40 | lnc-ZNF705D-2 | chr8:12245760-12245843 | NONHSAT125138 |
41 | lnc-ZNF705D-3 | chr8:12295801-12296020 | XLOC_006721 |
42 | lnc-ZNF705D-3 | chr8:12295920-12296020 | XLOC_006721 |
43 | lnc-ZNF705D-2 | chr8:12423395-12423557 | NONHSAT125158 |
44 | lnc-ZNF705D-3 | chr8:12298509-12298570 | XLOC_006721 |
45 | lnc-ZNF705D-2 | chr8:12245250-12245374 | NONHSAT125138 |
46 | lnc-ZNF705D-2 | chr8:12002932-12003176 | NONHSAT125119 |
47 | lnc-ZNF705D-2 | chr8:12003148-12003209 | NONHSAT125117 |
48 | lnc-ZNF705D-2 | chr8:12338338-12338444 | NONHSAT125127 |
49 | lnc-LONRF1-2 | chr8:12453527-12453682 | ENSG00000247397 |
50 | lnc-ZNF705D-2 | chr8:12302265-12302403 | NONHSAT125148 |
miRNA name | Chromosome Location | mirBase accession |
---|---|---|
hsa-miR-5692a | chr8:12576643-12576664 | MIMAT0022484_1 |
No data |
Variant related genes | Relation type |
---|---|
FAM86B2 | TF binding region |
OR7E8P | TF binding region |
ENSG00000254923 | TF binding region |
ENSG00000254581 | TF binding region |
FAM85A | TF binding region |
OR7E15P | TF binding region |
DEFB109P3 | TF binding region |
ENSG00000265826 | TF binding region |
ENPP7P12 | TF binding region |
RPS3AP34 | TF binding region |
ENSG00000238460 | TF binding region |
MIR5692A2 | TF binding region |
DEFB108P3 | TF binding region |
FAM66A | TF binding region |
ALG1L12P | TF binding region |
FAM86B1 | TF binding region |
ENPP7P6 | TF binding region |
RNA5SP253 | TF binding region |
ENSG00000238323 | TF binding region |
USP17L7 | TF binding region |
LINC00965 | TF binding region |
ENSG00000270154 | TF binding region |
RNA5SP254 | TF binding region |
ENSG00000255556 | TF binding region |
ALG1L11P | TF binding region |
USP17L2 | TF binding region |
RPS3AP35 | TF binding region |
OR7E10P | TF binding region |
ZNF705C | TF binding region |
DEFB130 | TF binding region |
ENSG00000237215 | TF binding region |
FAM90A2P | TF binding region |
ENSG00000254423 | TF binding region |
FAM90A25P | TF binding region |
DEFB109P1 | TF binding region |
FAM66D | TF binding region |
ENSG00000221714 | TF binding region |
ENSG00000255253 | TF binding region |
ENSG00000266637 | TF binding region |
ENSG00000255122 | TF binding region |
DEFB108P4 | TF binding region |
ZNF705D | TF binding region |
FAM86B2 | CpG island |
OR7E8P | CpG island |
ENSG00000254923 | CpG island |
ENSG00000254581 | CpG island |
FAM85A | CpG island |
OR7E15P | CpG island |
DEFB109P3 | CpG island |
ENSG00000265826 | CpG island |
ENPP7P12 | CpG island |
RPS3AP34 | CpG island |
ENSG00000238460 | CpG island |
MIR5692A2 | CpG island |
DEFB108P3 | CpG island |
FAM66A | CpG island |
ALG1L12P | CpG island |
FAM86B1 | CpG island |
ENPP7P6 | CpG island |
RNA5SP253 | CpG island |
ENSG00000238323 | CpG island |
USP17L7 | CpG island |
LINC00965 | CpG island |
ENSG00000270154 | CpG island |
RNA5SP254 | CpG island |
ENSG00000255556 | CpG island |
ALG1L11P | CpG island |
USP17L2 | CpG island |
RPS3AP35 | CpG island |
OR7E10P | CpG island |
ZNF705C | CpG island |
DEFB130 | CpG island |
ENSG00000237215 | CpG island |
FAM90A2P | CpG island |
ENSG00000254423 | CpG island |
FAM90A25P | CpG island |
DEFB109P1 | CpG island |
FAM66D | CpG island |
ENSG00000221714 | CpG island |
ENSG00000255253 | CpG island |
ENSG00000266637 | CpG island |
ENSG00000255122 | CpG island |
DEFB108P4 | CpG island |
ZNF705D | CpG island |
ENSG00000266206 | chromatin interactions |
ENSG00000255367 | chromatin interactions |
GATA2 | miRNA target sites |
RTF1 | miRNA target sites |
TMEM30B | miRNA target sites |
MYT1L | miRNA target sites |
PTPRJ | miRNA target sites |
C9orf150 | miRNA target sites |
POTEG | miRNA target sites |
PIAS2 | miRNA target sites |
ZNF597 | miRNA target sites |
RGS20 | miRNA target sites |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs201488691 | chr8:11970195-11970196 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
2 | rs368656492 | chr8:11970655-11970656 | Inactive region | CpG island | 1 gene(s) | Overlapped CNVs | n/a |
3 | rs199638308 | chr8:11970688-11970689 | Inactive region | CpG island | 1 gene(s) | Overlapped CNVs | n/a |
4 | rs201513319 | chr8:11972999-11973000 | Inactive region | TF binding regionCpG island | 1 gene(s) | Overlapped CNVs | n/a |
5 | rs113071926 | chr8:11973071-11973072 | Inactive region | TF binding regionCpG island | 1 gene(s) | Overlapped CNVs | n/a |
6 | rs572584977 | chr8:11973213-11973214 | Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
7 | rs370883399 | chr8:11973434-11973435 | Active TSS Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
8 | rs561471039 | chr8:11973453-11973454 | Active TSS Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
9 | rs531721238 | chr8:11973484-11973485 | Active TSS Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
10 | rs543420056 | chr8:11973523-11973524 | Active TSS Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
11 | rs373600396 | chr8:11973535-11973536 | Active TSS Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
12 | rs565010354 | chr8:11973536-11973537 | Active TSS Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
13 | rs532485932 | chr8:11973548-11973549 | Active TSS Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
14 | rs547521095 | chr8:11973618-11973619 | Active TSS Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
15 | rs188394489 | chr8:11973621-11973622 | Active TSS Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
16 | rs527542424 | chr8:11973671-11973672 | Active TSS Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
17 | rs549251999 | chr8:11973672-11973673 | Active TSS Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
18 | rs567460543 | chr8:11973679-11973680 | Active TSS Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
19 | rs376560073 | chr8:11973746-11973747 | Active TSS Enhancers Flanking Active TSS | lncRNA | n/a | Overlapped CNVs | n/a |
20 | rs537797263 | chr8:11973798-11973799 | Active TSS Enhancers Flanking Active TSS | lncRNA | n/a | Overlapped CNVs | n/a |
21 | rs556214719 | chr8:11973849-11973850 | Active TSS Flanking Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs571327667 | chr8:11973874-11973875 | Active TSS Flanking Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs538719792 | chr8:11973925-11973926 | Active TSS Flanking Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs370558308 | chr8:11973998-11973999 | Active TSS Flanking Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs553935977 | chr8:11974000-11974001 | Active TSS Flanking Active TSS Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs2698931 | chr8:11974012-11974013 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs200787040 | chr8:11974039-11974040 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs370407371 | chr8:11974040-11974041 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs542891948 | chr8:11974056-11974057 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs374877254 | chr8:11974073-11974074 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs367574924 | chr8:11974085-11974086 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs543377134 | chr8:11974186-11974187 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs184667007 | chr8:11974291-11974292 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs558146549 | chr8:11974297-11974298 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs370266740 | chr8:11974298-11974299 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs549127805 | chr8:11974326-11974327 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs541126366 | chr8:11974331-11974332 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
38 | rs559633551 | chr8:11974388-11974389 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
39 | rs527443933 | chr8:11974416-11974417 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs199669574 | chr8:11974431-11974432 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs567520325 | chr8:11974519-11974520 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs531651243 | chr8:11974521-11974522 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs550132179 | chr8:11974579-11974580 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs571239643 | chr8:11974620-11974621 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs79693972 | chr8:11974742-11974743 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs538683280 | chr8:11974747-11974748 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs547458835 | chr8:11975001-11975002 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs200672574 | chr8:11975125-11975126 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs536806062 | chr8:11975135-11975136 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs554880170 | chr8:11975156-11975157 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Crohn''s disease | 19220326 | CNVD |
Psoriasis | 19220326 | CNVD |
Prostate cancer | 21965145 | CNVD |
Prostate cancer | 18515986 | CNVD |
Chronic obstructive pulmonary disease | 20378733 | CNVD |
Autism | 18414403 | CNVD |
Cancer | 21183584 | CNVD |
Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
Breast cancer | 17603634 | CNVD |
Myeloproliferative neoplasm | 20015882 | CNVD |
Ovarian cancer | 20844748 | CNVD |
Cervical cancer | 17311676 | CNVD |
High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
Non-syndromic sensorineural hearing loss | 20606397 | CNVD |
Schizophrenia | 20877625 | CNVD |
Disorders of sex development | 21048976 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Basal cell lymphoma | 17170743 | CNVD |
Follicular lymphoma | 17170743 | CNVD |
Breast cancer | 17001317 | CNVD |
Thyroid cancer | 19087340 | CNVD |
Multiple myeloma | 16616336 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Heart disease | 21282601 | CNVD |
Prostate cancer | 16573809 | CNVD |
T-cell lymphomas | 19863542 | CNVD |
Ovarian cancer | 22174824 | CNVD |
Colorectal cancer | 21297112 | CNVD |
Hodgkin''s lymphoma | 18641027 | CNVD |
Salivary gland tumor | 18059337 | CNVD |
Breast cancer | 17133270 | CNVD |
Melanoma | 18172304 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Chronic lymphocytic leukemia | 18922857 | CNVD |
Breast cancer | 17393978 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Cancer | 21637783 | CNVD |
Breast cancer | 20837533 | CNVD |
Squamous cell cancer | 21044232 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Cancer | 22429812 | CNVD |
Non-small cell lung cancer | 21044232 | CNVD |
Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Colorectal cancer | 20709793 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Basal cell lymphoma | 21115979 | CNVD |
Breast cancer | 21264507 | CNVD |
Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Oral cancer | 21386901 | CNVD |
Prostate cancer | 21088497 | CNVD |
Breast cancer | 20940404 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Embryonal rhabdomyosarcoma | 16790082 | CNVD |
Gastric cancer | 17167181 | CNVD |
Prostate cancer | 16705090 | CNVD |
8p-syndrome | 17576883 | CNVD |
Human rectal carcinomas | 16397240 | CNVD |
Medulloblastoma | 16968546 | CNVD |
Lung adenocarcinoma | 19525976 | CNVD |
Lung cancer | 19525976 | CNVD |
Prostate cancer | 17245344 | CNVD |
Gastrointestinal stromal cancer | 16982739 | CNVD |
Cancer | 16751803 | CNVD |
Wilms tumour | 21544195 | CNVD |
Gastric cancer | 17908304 | CNVD |
Autism | 19415332 | CNVD |
Malaria | 21533027 | CNVD |
Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
Esophageal cancer | 21851588 | CNVD |
Acute promyelocytic leukemia | 19109227 | CNVD |
Breast cancer | 21245420 | CNVD |
Acute lymphoblastic leukemia | 21248843 | CNVD |
Breast cancer | 21785460 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Breast cancer | 21509527 | CNVD |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
Prostate cancer | 18632612 | CNVD |
Breast cancer | 21858162 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Liver carcinoma | 19366792 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Congenital diaphragmatic hernia | 21064195 | CNVD |
Autism | 22495311 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Intellectual disability | 22045946 | CNVD |
Malignant fibrous histiocytomas | 21085701 | CNVD |
Breast cancer | 16608533 | CNVD |
Seminomas | 18059402 | CNVD |
Lung cancer | 18438408 | CNVD |
Lung squamous cell carcinoma | 22363434 | CNVD |
Medulloblastoma | 16783165 | CNVD |
Gastric cancer | 18160780 | CNVD |
Breast cancer | 21990379 | CNVD |
Psoriasis | 20403174 | CNVD |
Psoriasis | 20663923 | CNVD |
Crohn''s disease | 16909382 | CNVD |
Cancer | 21129771 | CNVD |
Congenital diaphragmatic hernia | 21085971 | CNVD |
Crohn''s disease | 20877625 | CNVD |
Inflammatory disorder | 20877625 | CNVD |
Cardiac defect | 21933911 | CNVD |
Psoriasis | 18059266 | CNVD |
Barrett''s adenocarcinoma | 18663352 | CNVD |
Psoriasis | 20877625 | CNVD |
Mental retardation | 17847001 | CNVD |
Prostate cancer | 17217626 | CNVD |
Schizophrenia | 21399695 | CNVD |
Colorectal cancer | 21128281 | CNVD |
Colorectal cancer | 19455253 | CNVD |
Psoriasis | 18848619 | CNVD |
Squamous cell cancer | 19047905 | CNVD |
Colorectal cancer | 17229543 | CNVD |
Gastrointestinal stromal cancer | 19259404 | CNVD |
Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
Myxofibrosarcoma | 16751306 | CNVD |
Immune disease | 21572526 | CNVD |
Non-small cell lung cancer | 21829676 | CNVD |
Ovarian neoplasms | 16753589 | CNVD |
Kallmann Syndrome 2 | 22470819 | CNVD |
Ovarian clear cell carcinoma | 21343371 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Breast cancer | 21364760 | CNVD |
Gastric cancer | 21811585 | CNVD |
Colorectal cancer | 16774939 | CNVD |
Acute lymphoblastic leukemia | 21390130 | CNVD |
Cancer | 20164919 | CNVD |
Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
early-passage human iPS cells | 21368824 | CNVD |
Schizophrenia | 20967226 | CNVD |
Breast cancer | 22522925 | CNVD |
Non-syndromic sensorineural hearing loss | 21030649 | CNVD |
Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
Melanoma | 20688739 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Intracranial tumor | 22048656 | CNVD |
Ollier disease | 21235737 | CNVD |
Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
Schizophrenia | 23813976 | CNVD |
Osteosarcoma | 21215367 | CNVD |
Cancer | 21215367 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr8:11973200-11973400 | Active TSS | H1 Derived Mesenchymal Stem Cells | ES cell derived |
2 | chr8:11973200-11973600 | Active TSS | HUES48 Cell Line | embryonic stem cell |
3 | chr8:11973200-11973600 | Active TSS | IMR90 fetal lung fibroblasts Cell Line | lung |
4 | chr8:11973200-11973600 | Active TSS | Cortex derived primary cultured neurospheres | brain |
5 | chr8:11973200-11973600 | Active TSS | Foreskin Keratinocyte Primary Cells skin02 | Skin |
6 | chr8:11973200-11973600 | Active TSS | Primary mononuclear cells fromperipheralblood | Blood |
7 | chr8:11973200-11973600 | Active TSS | Colonic Mucosa | Colon |
8 | chr8:11973200-11973600 | Active TSS | Duodenum Smooth Muscle | Duodenum |
9 | chr8:11973200-11973600 | Active TSS | Esophagus | oesophagus |
10 | chr8:11973200-11973600 | Active TSS | Placenta | Placenta |
11 | chr8:11973200-11973600 | Active TSS | Fetal Stomach | stomach |
12 | chr8:11973200-11973600 | Active TSS | Fetal Thymus | thymus |
13 | chr8:11973200-11973600 | Active TSS | Left Ventricle | heart |
14 | chr8:11973200-11973600 | Active TSS | Thymus | Thymus |
15 | chr8:11973200-11973600 | Active TSS | A549 | lung |
16 | chr8:11973200-11973600 | Active TSS | Monocytes-CD14+_RO01746 | blood |
17 | chr8:11973200-11973600 | Active TSS | NHLF | lung |
18 | chr8:11973200-11973600 | Active TSS | Osteobl | bone |
19 | chr8:11973200-11973800 | Active TSS | iPS DF 19.11 Cell Line | embryonic stem cell |
20 | chr8:11973200-11973800 | Active TSS | Primary hematopoietic stem cells G-CSF-mobilized Female | -- |
21 | chr8:11973200-11973800 | Active TSS | Ovary | ovary |
22 | chr8:11973200-11973800 | Active TSS | Psoas Muscle | Psoas |
23 | chr8:11973200-11973800 | Active TSS | Right Ventricle | heart |
24 | chr8:11973200-11974000 | Active TSS | H1 Cell Line | embryonic stem cell |
25 | chr8:11973200-11974000 | Active TSS | H9 Derived Neuron Cultured Cells | ES cell derived |
26 | chr8:11973200-11974000 | Active TSS | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
27 | chr8:11973200-11974000 | Active TSS | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
28 | chr8:11973200-11974000 | Active TSS | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
29 | chr8:11973200-11974000 | Active TSS | Primary T regulatory cells fromperipheralblood | blood |
30 | chr8:11973200-11974000 | Active TSS | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
31 | chr8:11973200-11974000 | Active TSS | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
32 | chr8:11973200-11974000 | Active TSS | Muscle Satellite Cultured Cells | -- |
33 | chr8:11973200-11974000 | Active TSS | Ganglion Eminence derived primary cultured neurospheres | brain |
34 | chr8:11973200-11974000 | Active TSS | Foreskin Fibroblast Primary Cells skin01 | Skin |
35 | chr8:11973200-11974000 | Active TSS | Foreskin Keratinocyte Primary Cells skin03 | Skin |
36 | chr8:11973200-11974000 | Active TSS | Foreskin Melanocyte Primary Cells skin03 | Skin |
37 | chr8:11973200-11974000 | Active TSS | Adipose Nuclei | Adipose |
38 | chr8:11973200-11974000 | Active TSS | Brain Germinal Matrix | brain |
39 | chr8:11973200-11974000 | Active TSS | Fetal Brain Female | brain |
40 | chr8:11973200-11974000 | Active TSS | Fetal Muscle Leg | muscle |
41 | chr8:11973200-11974000 | Active TSS | Stomach Smooth Muscle | stomach |
42 | chr8:11973400-11973600 | Flanking Active TSS | H1 Derived Mesenchymal Stem Cells | ES cell derived |
43 | chr8:11973400-11973800 | Active TSS | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
44 | chr8:11973400-11973800 | Active TSS | Rectal Mucosa Donor 31 | rectum |
45 | chr8:11973400-11974000 | Active TSS | Brain Hippocampus Middle | brain |
46 | chr8:11973400-11974000 | Active TSS | NHDF-Ad | bronchial |
47 | chr8:11973600-11973800 | Flanking Active TSS | Colonic Mucosa | Colon |
48 | chr8:11973600-11974000 | Enhancers | Brain Angular Gyrus | brain |
49 | chr8:11973800-11974000 | Flanking Active TSS | Primary hematopoietic stem cells G-CSF-mobilized Female | -- |
50 | chr8:11974000-11974400 | Enhancers | Fetal Muscle Leg | muscle |