Variant report
Variant | nsv1034961 |
---|---|
Chromosome Location | chr8:2568723-2824097 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:1509)
- CpG islands (count:1587)
- Chromatin interactive region (count:171)
- LncRNA region (count:19)
- 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 | chr8:2632277-2632294 | K562 | blood: | n/a | n/a |
2 | ARID3A | chr8:2569699-2570363 | K562 | blood: | n/a | n/a |
3 | ARID3A | chr8:2588688-2589234 | K562 | blood: | n/a | n/a |
4 | ARID3A | chr8:2736432-2736497 | K562 | blood: | n/a | n/a |
5 | ARID3A | chr8:2640546-2640565 | K562 | blood: | n/a | n/a |
6 | ARID3A | chr8:2592824-2593695 | K562 | blood: | n/a | chr8:2593039-2593055 |
7 | ARID3A | chr8:2583362-2583786 | K562 | blood: | n/a | n/a |
8 | ARID3A | chr8:2591085-2592231 | K562 | blood: | n/a | n/a |
9 | ARID3A | chr8:2628561-2628762 | K562 | blood: | n/a | n/a |
10 | ARID3A | chr8:2571430-2571701 | K562 | blood: | n/a | n/a |
11 | ARID3A | chr8:2645493-2646139 | K562 | blood: | n/a | n/a |
12 | ARID3A | chr8:2582455-2583099 | K562 | blood: | n/a | n/a |
13 | ARID3A | chr8:2743138-2743788 | K562 | blood: | n/a | n/a |
14 | ARID3A | chr8:2586788-2587042 | K562 | blood: | n/a | n/a |
15 | ARID3A | chr8:2640879-2641488 | K562 | blood: | n/a | n/a |
16 | ATF1 | chr8:2591024-2591651 | K562 | blood: | n/a | n/a |
17 | ATF1 | chr8:2743389-2743805 | K562 | blood: | n/a | n/a |
18 | ATF1 | chr8:2581374-2581475 | K562 | blood: | n/a | n/a |
19 | ATF1 | chr8:2588667-2588920 | K562 | blood: | n/a | n/a |
20 | ATF1 | chr8:2645670-2646221 | K562 | blood: | n/a | n/a |
21 | ATF1 | chr8:2641154-2641440 | K562 | blood: | n/a | n/a |
22 | ATF2 | chr8:2575121-2575588 | GM12878 | blood: | n/a | n/a |
23 | ATF2 | chr8:2575097-2575545 | GM12878 | blood: | n/a | n/a |
24 | ATF3 | chr8:2591062-2591346 | K562 | blood: | n/a | n/a |
25 | ATF3 | chr8:2743392-2743791 | K562 | blood: | n/a | n/a |
26 | BACH1 | chr8:2710537-2710713 | H1-hESC | embryonic stem cell: | n/a | n/a |
27 | BACH1 | chr8:2743312-2743830 | H1-hESC | embryonic stem cell: | n/a | n/a |
28 | BACH1 | chr8:2743400-2743878 | K562 | blood: | n/a | n/a |
29 | BACH1 | chr8:2628552-2628844 | H1-hESC | embryonic stem cell: | n/a | n/a |
30 | BACH1 | chr8:2628652-2628871 | K562 | blood: | n/a | n/a |
31 | BATF | chr8:2575236-2575412 | GM12878 | blood: | n/a | chr8:2575395-2575403 |
32 | BATF | chr8:2577159-2577434 | GM12878 | blood: | n/a | chr8:2577308-2577319 |
33 | BATF | chr8:2780025-2780346 | GM12878 | blood: | n/a | chr8:2780214-2780225 |
34 | BATF | chr8:2577057-2577495 | GM12878 | blood: | n/a | chr8:2577308-2577319 |
35 | BATF | chr8:2575165-2575442 | GM12878 | blood: | n/a | chr8:2575395-2575403 |
36 | BCL11A | chr8:2576992-2577351 | GM12878 | blood: | n/a | n/a |
37 | BCL11A | chr8:2575139-2575457 | GM12878 | blood: | n/a | n/a |
38 | BCL11A | chr8:2577041-2577262 | GM12878 | blood: | n/a | n/a |
39 | BCL11A | chr8:2690564-2690825 | GM12878 | blood: | n/a | chr8:2690626-2690635 |
40 | BCL3 | chr8:2575150-2575417 | GM12878 | blood: | n/a | n/a |
41 | BCLAF1 | chr8:2591118-2591666 | K562 | blood: | n/a | n/a |
42 | BCLAF1 | chr8:2672014-2672364 | GM12878 | blood: | n/a | n/a |
43 | BHLHE40 | chr8:2743404-2743839 | K562 | blood: | n/a | n/a |
44 | BHLHE40 | chr8:2588692-2588697 | K562 | blood: | n/a | n/a |
45 | BHLHE40 | chr8:2589918-2590649 | K562 | blood: | n/a | n/a |
46 | BHLHE40 | chr8:2585550-2585876 | K562 | blood: | n/a | n/a |
47 | BHLHE40 | chr8:2584393-2584840 | K562 | blood: | n/a | n/a |
48 | BHLHE40 | chr8:2645764-2646221 | K562 | blood: | n/a | n/a |
49 | BHLHE40 | chr8:2628562-2628861 | K562 | blood: | n/a | n/a |
50 | BHLHE40 | chr8:2569644-2569660 | GM12878 | blood: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr8:2669421-2669471 | AoSMC | blood vessel: | n/a |
2 | chr8:2669421-2669471 | AoSMC | blood vessel: | n/a |
3 | chr8:2609661-2609711 | AG09319 | gingival: | n/a |
4 | chr8:2585666-2585716 | CMK | blood: | n/a |
5 | chr8:2585666-2585716 | HUVEC | blood vessel: | n/a |
6 | chr8:2591207-2591257 | Hela-S3 | cervix: | n/a |
7 | chr8:2741025-2741075 | CMK | blood: | n/a |
8 | chr8:2591411-2591461 | NHDF-neo | bronchial: | n/a |
9 | chr8:2752736-2752786 | GM19239 | blood: | n/a |
10 | chr8:2793577-2793627 | IMR90 | lung: | fetal |
11 | chr8:2752736-2752786 | AG10803 | skin: | n/a |
12 | chr8:2669421-2669471 | LNCaP | prostate: | n/a |
13 | chr8:2669372-2669422 | Hela-S3 | cervix: | n/a |
14 | chr8:2793467-2793517 | GM19239 | blood: | n/a |
15 | chr8:2585235-2585285 | T-47D | breast: | n/a |
16 | chr8:2670187-2670237 | IMR90 | lung: | fetal |
17 | chr8:2585976-2586026 | PrEC | prostate: | n/a |
18 | chr8:2586911-2586961 | Caco-2 | colon: | n/a |
19 | chr8:2591207-2591257 | GM12891 | blood: | n/a |
20 | chr8:2609691-2609741 | Caco-2 | colon: | n/a |
21 | chr8:2609661-2609711 | HNPCEpiC | eye: | n/a |
22 | chr8:2795929-2795979 | HNPCEpiC | eye: | n/a |
23 | chr8:2591265-2591315 | SKMC | muscle: | n/a |
24 | chr8:2585976-2586026 | NH-A | brain: | n/a |
25 | chr8:2670359-2670409 | AG09319 | gingival: | n/a |
26 | chr8:2793577-2793627 | HIPEpiC | eye: | n/a |
27 | chr8:2670359-2670409 | HIPEpiC | eye: | n/a |
28 | chr8:2820857-2820907 | A549 | lung: | n/a |
29 | chr8:2670187-2670237 | HRPEpiC | eye: | n/a |
30 | chr8:2774531-2774581 | GM12891 | blood: | n/a |
31 | chr8:2670187-2670237 | Caco-2 | colon: | n/a |
32 | chr8:2609691-2609741 | HRCEpiC | kidney: | n/a |
33 | chr8:2795929-2795979 | HEK293 | kidney: | embryo |
34 | chr8:2798026-2798076 | SK-N-MC | brain: | n/a |
35 | chr8:2669421-2669471 | K562 | blood: | n/a |
36 | chr8:2798026-2798076 | HPAEpiC | pulmonary alveolar: | n/a |
37 | chr8:2752759-2752809 | HEEpiC | esophagus: | n/a |
38 | chr8:2793577-2793627 | LNCaP | prostate: | n/a |
39 | chr8:2752782-2752832 | SK-N-MC | brain: | n/a |
40 | chr8:2741025-2741075 | PrEC | prostate: | n/a |
41 | chr8:2670359-2670409 | HPAEpiC | pulmonary alveolar: | n/a |
42 | chr8:2669372-2669422 | Caco-2 | colon: | n/a |
43 | chr8:2741025-2741075 | NHDF-neo | bronchial: | n/a |
44 | chr8:2585976-2586026 | MCF10A-Er-Src | breast: | n/a |
45 | chr8:2591207-2591257 | K562 | blood: | n/a |
46 | chr8:2591265-2591315 | HIPEpiC | eye: | n/a |
47 | chr8:2591207-2591257 | HAEpiC | amniotic membrane: | n/a |
48 | chr8:2585976-2586026 | AoSMC | blood vessel: | n/a |
49 | chr8:2795929-2795979 | MCF10A-Er-Src | breast: | n/a |
50 | chr8:2795929-2795979 | GM12892 | blood: | n/a |
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr8:2586489..2588767-chr8:2645742..2647467,2 | K562 | blood: | |
2 | chr8:2587156..2590098-chr8:2597980..2600237,2 | K562 | blood: | |
3 | chr8:2574708..2577541-chr8:2645508..2647339,2 | K562 | blood: | |
4 | chr8:2622298..2624399-chr8:2625541..2627206,2 | K562 | blood: | |
5 | chr8:2527298..2531531-chr8:2571196..2574583,3 | K562 | blood: | |
6 | chr8:2585563..2588028-chr8:2642539..2644071,2 | K562 | blood: | |
7 | chr8:2598798..2600959-chr8:2603763..2608405,4 | K562 | blood: | |
8 | chr8:2599818..2601466-chr8:2615794..2618126,2 | K562 | blood: | |
9 | chr8:2591672..2593360-chr8:2600937..2603510,2 | K562 | blood: | |
10 | chr8:2582217..2584470-chr8:2644052..2646887,2 | K562 | blood: | |
11 | chr8:2822063..2824754-chr8:2827562..2829659,2 | K562 | blood: | |
12 | chr8:2569834..2572343-chr8:2683951..2686234,2 | K562 | blood: | |
13 | chr8:2617946..2621855-chr8:2622304..2626900,6 | K562 | blood: | |
14 | chr8:2581583..2583717-chr8:2629779..2632659,2 | K562 | blood: | |
15 | chr8:2591672..2593360-chr8:2600937..2603510,2 | K562 | blood: | |
16 | chr8:2241146..2241991-chr8:2671759..2672451,2 | MCF-7 | breast: | |
17 | chr8:2643241..2645944-chr8:2661981..2664507,2 | K562 | blood: | |
18 | chr8:2588732..2590770-chr8:2607526..2610029,2 | K562 | blood: | |
19 | chr8:2578568..2580077-chr8:2629449..2631121,2 | K562 | blood: | |
20 | chr8:2584178..2586642-chr8:2609654..2611417,2 | K562 | blood: | |
21 | chr8:2606417..2608305-chr8:6263383..6265567,2 | K562 | blood: | |
22 | chr8:2646083..2648399-chr8:2651265..2652785,2 | K562 | blood: | |
23 | chr8:2569834..2572343-chr8:2683951..2686234,2 | K562 | blood: | |
24 | chr8:2588732..2590770-chr8:2607526..2610029,2 | K562 | blood: | |
25 | chr8:2629126..2630939-chr8:2635641..2638052,2 | K562 | blood: | |
26 | chr8:2660410..2661970-chr8:2666525..2669002,2 | K562 | blood: | |
27 | chr8:2594321..2595985-chr8:2596545..2598928,2 | K562 | blood: | |
28 | chr8:2621028..2623848-chr8:2627969..2631873,3 | K562 | blood: | |
29 | chr8:2594821..2596661-chr8:2659400..2661815,2 | K562 | blood: | |
30 | chr8:2593399..2598428-chr8:2599653..2604121,4 | K562 | blood: | |
31 | chr8:2582656..2585104-chr8:2624688..2627704,3 | K562 | blood: | |
32 | chr8:2671763..2673486-chr8:2679211..2682060,2 | K562 | blood: | |
33 | chr8:2743139..2745505-chr8:2752998..2755650,2 | K562 | blood: | |
34 | chr8:2624634..2626171-chr8:2626385..2627921,2 | K562 | blood: | |
35 | chr8:2629126..2630939-chr8:2635641..2638052,2 | K562 | blood: | |
36 | chr8:2589525..2591658-chr8:2644551..2646934,3 | K562 | blood: | |
37 | chr8:2592045..2593873-chr8:2639139..2641093,2 | K562 | blood: | |
38 | chr8:2582144..2584823-chr8:2599195..2601671,2 | K562 | blood: | |
39 | chr8:2790313..2793074-chr8:2794638..2796914,2 | K562 | blood: | |
40 | chr8:2588918..2591630-chr8:2632391..2633990,2 | K562 | blood: | |
41 | chr8:2735475..2738288-chr8:2740776..2743385,2 | K562 | blood: | |
42 | chr8:2308369..2308915-chr8:2671740..2672327,2 | MCF-7 | breast: | |
43 | chr8:2211929..2212491-chr8:2672159..2672723,2 | K562 | blood: | |
44 | chr8:2479991..2481177-chr8:2671774..2672712,4 | K562 | blood: | |
45 | chr8:2583662..2585649-chr8:2628654..2630173,2 | K562 | blood: | |
46 | chr8:2578255..2580228-chr8:2646659..2649405,2 | K562 | blood: | |
47 | chr8:2783957..2786248-chr8:2796648..2799482,2 | K562 | blood: | |
48 | chr8:2582743..2584939-chr8:2639124..2641022,2 | K562 | blood: | |
49 | chr8:2574708..2577541-chr8:2645508..2647339,2 | K562 | blood: | |
50 | chr8:2636014..2638648-chr8:2639734..2641610,2 | K562 | blood: |
(count:19 , 50 per page) page:
1
No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-MYOM2-4 | chr8:2662104-2662202 | XLOC_006690 |
2 | lnc-MYOM2-11 | chr8:2670856-2671431 | NONHSAT124737 |
3 | lnc-CSMD1-1 | chr8:2585870-2585959 | ENSG00000254319 |
4 | lnc-CSMD1-1 | chr8:2585870-2585959 | ENSG00000254319 |
5 | lnc-CSMD1-12 | chr8:2573277-2573364 | ucscGeneNc_uc003wqb_1 |
6 | lnc-MYOM2-13 | chr8:2778500-2779629 | NONHSAT124739 |
7 | lnc-MYOM2-4 | chr8:2679916-2680004 | ENSG00000253853 |
8 | lnc-MYOM2-4 | chr8:2676789-2676941 | ENSG00000253853 |
9 | lnc-MYOM2-4 | chr8:2584690-2585033 | XLOC_006690 |
10 | lnc-MYOM2-4 | chr8:2662104-2662227 | ENSG00000253853 |
11 | lnc-CSMD1-1 | chr8:2585870-2585957 | XLOC_006980 |
12 | lnc-CSMD1-1 | chr8:2579024-2579126 | ENSG00000254319 |
13 | lnc-CSMD1-1 | chr8:2585870-2585991 | ENSG00000254319 |
14 | lnc-MYOM2-4 | chr8:2584858-2585033 | ENSG00000253853 |
15 | lnc-MYOM2-12 | chr8:2692294-2692594 | NONHSAT124738 |
16 | lnc-MYOM2-12 | chr8:2694306-2694604 | NONHSAT124738 |
17 | lnc-MYOM2-12 | chr8:2691861-2692100 | NONHSAT124738 |
18 | lnc-MYOM2-4 | chr8:2665889-2665956 | ENSG00000253853 |
19 | lnc-CSMD1-1 | chr8:2585870-2585957 | ENSG00000254319 |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000254319 | TF binding region |
ENSG00000253853 | TF binding region |
ENSG00000254319 | CpG island |
ENSG00000253853 | CpG island |
ENSG00000246089 | chromatin interactions |
ENSG00000253853 | chromatin interactions |
ENSG00000147316 | chromatin interactions |
ENSG00000249694 | chromatin interactions |
ENSG00000254319 | chromatin interactions |
SFRS2IP | miRNA target sites |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs547549176 | chr8:2568727-2568728 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs7817579 | chr8:2568747-2568748 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
3 | rs570415865 | chr8:2568763-2568764 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs536101002 | chr8:2568786-2568787 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs73492722 | chr8:2568847-2568848 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
6 | rs556597735 | chr8:2568864-2568865 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs576532622 | chr8:2568875-2568876 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs569541543 | chr8:2568900-2568901 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs538121054 | chr8:2568913-2568914 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs185678254 | chr8:2568923-2568924 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs138209478 | chr8:2568944-2568945 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs545564179 | chr8:2568950-2568951 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs201349605 | chr8:2568968-2568969 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs533920345 | chr8:2568993-2568994 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs553889925 | chr8:2568997-2568998 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs200089409 | chr8:2569042-2569043 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs7818049 | chr8:2569043-2569044 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
18 | rs149571524 | chr8:2569060-2569061 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs143227074 | chr8:2569062-2569063 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs7836917 | chr8:2569075-2569076 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
21 | rs542133601 | chr8:2569098-2569099 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs190691046 | chr8:2569195-2569196 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs114687442 | chr8:2569214-2569215 | Weak transcription Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
24 | rs139024067 | chr8:2569262-2569263 | Weak transcription Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
25 | rs560967156 | chr8:2569286-2569287 | Weak transcription Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
26 | rs368858183 | chr8:2569321-2569322 | Weak transcription Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
27 | rs559553683 | chr8:2569333-2569334 | Weak transcription Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
28 | rs561930325 | chr8:2569375-2569376 | Weak transcription Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
29 | rs569322208 | chr8:2569387-2569388 | Weak transcription Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
30 | rs538410858 | chr8:2569395-2569396 | Weak transcription Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
31 | rs375847627 | chr8:2569404-2569405 | Enhancers Active TSS Weak transcription Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
32 | rs551824257 | chr8:2569446-2569447 | Enhancers Active TSS Weak transcription Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
33 | rs181980212 | chr8:2569460-2569461 | Enhancers Active TSS Weak transcription Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
34 | rs533979291 | chr8:2569478-2569479 | Enhancers Active TSS Weak transcription Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
35 | rs553706181 | chr8:2569509-2569510 | Enhancers Active TSS Weak transcription Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
36 | rs573806188 | chr8:2569520-2569521 | Enhancers Active TSS Weak transcription Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
37 | rs530971551 | chr8:2569525-2569526 | Enhancers Active TSS Weak transcription Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
38 | rs556345617 | chr8:2569540-2569541 | Enhancers Active TSS Weak transcription Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
39 | rs576185876 | chr8:2569571-2569572 | Enhancers Active TSS Weak transcription Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
40 | rs77649565 | chr8:2569603-2569604 | Enhancers Active TSS Weak transcription Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
41 | rs73492726 | chr8:2569608-2569609 | Enhancers Active TSS Weak transcription Flanking Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
42 | rs370413649 | chr8:2569623-2569624 | Enhancers Active TSS Weak transcription Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
43 | rs572321165 | chr8:2569629-2569630 | Enhancers Active TSS Weak transcription Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
44 | rs541036860 | chr8:2569644-2569645 | Enhancers Active TSS Weak transcription Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
45 | rs560830267 | chr8:2569645-2569646 | Enhancers Active TSS Weak transcription Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
46 | rs186094522 | chr8:2569649-2569650 | Enhancers Active TSS Weak transcription Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
47 | rs17760408 | chr8:2569653-2569654 | Enhancers Active TSS Weak transcription Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
48 | rs189006234 | chr8:2569665-2569666 | Enhancers Active TSS Weak transcription Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
49 | rs531853359 | chr8:2569725-2569726 | Enhancers Active TSS Weak transcription Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
50 | rs374293631 | chr8:2569747-2569748 | Enhancers Active TSS Weak transcription Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Prostate cancer | 16573809 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Ovarian clear cell carcinoma | 21343371 | CNVD |
abnormal development | 18461090 | CNVD |
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 |
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 |
Cancer | 20164919 | CNVD |
Breast cancer | 21785460 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Ductal carcinoma | 22052326 | CNVD |
Breast cancer | 21509527 | CNVD |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Epilepsy | 22083797 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
low-grade B-cell lymphoma tumor | 18367492 | CNVD |
Prostate cancer | 18632612 | CNVD |
Breast cancer | 21858162 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Liver carcinoma | 19366792 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Autism | 22495311 | CNVD |
Breast cancer | 20932292 | CNVD |
Congenital diaphragmatic hernia | 21064195 | CNVD |
Ovarian cancer | 22355333 | CNVD |
Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
Breast cancer | 21364760 | CNVD |
Cancer | 20164920 | CNVD |
Oral squamous cell carcinoma | 17134496 | CNVD |
Non-small cell lung cancer | 21829676 | CNVD |
Esophageal squamous carcinoma | 18405350 | CNVD |
Prostate cancer | 17217626 | CNVD |
Developmental delay | 19128483 | CNVD |
Neuroticism | 17667963 | CNVD |
Leukoplakia | 24403051 | CNVD |
Intellectual disability | 22045946 | CNVD |
Malignant fibrous histiocytomas | 21085701 | CNVD |
Breast cancer | 16608533 | CNVD |
Seminomas | 18059402 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Lung cancer | 18438408 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Schizophrenia | 20967226 | CNVD |
Schizophrenia | 19805367 | CNVD |
Colorectal cancer | 16774939 | CNVD |
Schizophrenia | 23813976 | CNVD |
Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
early-passage human iPS cells | 21368824 | CNVD |
Colorectal cancer | 21645411 | CNVD |
Colorectal cancer | 22014273 | CNVD |
Breast cancer | 22522925 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr8:2558800-2569200 | Weak transcription | K562 | blood |
2 | chr8:2566600-2569400 | Weak transcription | Right Atrium | heart |
3 | chr8:2567200-2582800 | Weak transcription | Primary hematopoietic stem cells short term culture | blood |
4 | chr8:2568600-2568800 | Enhancers | Fetal Kidney | kidney |
5 | chr8:2568800-2569400 | Weak transcription | Fetal Kidney | kidney |
6 | chr8:2569200-2569400 | Enhancers | Cortex derived primary cultured neurospheres | brain |
7 | chr8:2569200-2569400 | Weak transcription | Fetal Stomach | stomach |
8 | chr8:2569200-2570200 | Active TSS | Foreskin Keratinocyte Primary Cells skin03 | Skin |
9 | chr8:2569200-2570600 | Active TSS | K562 | blood |
10 | chr8:2569400-2569600 | Active TSS | Brain Angular Gyrus | brain |
11 | chr8:2569400-2569600 | Enhancers | Fetal Brain Male | brain |
12 | chr8:2569400-2569600 | Enhancers | Fetal Heart | heart |
13 | chr8:2569400-2569600 | Flanking Active TSS | Fetal Kidney | kidney |
14 | chr8:2569400-2569800 | Enhancers | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
15 | chr8:2569400-2569800 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
16 | chr8:2569400-2569800 | Active TSS | Brain Hippocampus Middle | brain |
17 | chr8:2569400-2569800 | Enhancers | Fetal Lung | lung |
18 | chr8:2569400-2569800 | Enhancers | Fetal Stomach | stomach |
19 | chr8:2569400-2569800 | Enhancers | Psoas Muscle | Psoas |
20 | chr8:2569400-2569800 | Enhancers | Right Atrium | heart |
21 | chr8:2569400-2570000 | Active TSS | Breast Myoepithelial Primary Cells | Breast |
22 | chr8:2569400-2570000 | Flanking Active TSS | Cortex derived primary cultured neurospheres | brain |
23 | chr8:2569400-2570000 | Active TSS | Ganglion Eminence derived primary cultured neurospheres | brain |
24 | chr8:2569400-2570000 | Active TSS | Brain Anterior Caudate | brain |
25 | chr8:2569400-2570000 | Active TSS | Brain Cingulate Gyrus | brain |
26 | chr8:2569400-2570000 | Active TSS | Brain Inferior Temporal Lobe | brain |
27 | chr8:2569400-2570000 | Active TSS | Brain Substantia Nigra | brain |
28 | chr8:2569400-2570000 | Active TSS | Colon Smooth Muscle | Colon |
29 | chr8:2569400-2570000 | Active TSS | Fetal Brain Female | brain |
30 | chr8:2569400-2570000 | Active TSS | Pancreatic Islets | Pancreatic Islet |
31 | chr8:2569400-2570000 | Active TSS | NHEK | skin |
32 | chr8:2569400-2570200 | Active TSS | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
33 | chr8:2569400-2570200 | Active TSS | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
34 | chr8:2569400-2570200 | Active TSS | Foreskin Keratinocyte Primary Cells skin02 | Skin |
35 | chr8:2569400-2570200 | Active TSS | Duodenum Mucosa | Duodenum |
36 | chr8:2569400-2570200 | Active TSS | Duodenum Smooth Muscle | Duodenum |
37 | chr8:2569400-2570200 | Active TSS | Fetal Adrenal Gland | Adrenal Gland |
38 | chr8:2569400-2570200 | Active TSS | Stomach Smooth Muscle | stomach |
39 | chr8:2569400-2570200 | Active TSS | HMEC | breast |
40 | chr8:2569400-2570200 | Active TSS | Osteobl | bone |
41 | chr8:2569600-2569800 | Enhancers | Pancreas | Pancrea |
42 | chr8:2569600-2570000 | Active TSS | Primary T helper 17 cells PMA-I stimulated | -- |
43 | chr8:2569600-2570000 | Enhancers | Brain Angular Gyrus | brain |
44 | chr8:2569600-2570000 | Active TSS | Fetal Kidney | kidney |
45 | chr8:2569800-2570000 | Flanking Active TSS | Brain Hippocampus Middle | brain |
46 | chr8:2569800-2579600 | Weak transcription | Fetal Stomach | stomach |
47 | chr8:2570000-2570200 | Flanking Active TSS | Breast Myoepithelial Primary Cells | Breast |
48 | chr8:2570000-2570200 | Active TSS | Brain Angular Gyrus | brain |
49 | chr8:2570000-2570200 | Flanking Active TSS | Pancreatic Islets | Pancreatic Islet |
50 | chr8:2570600-2570800 | Flanking Active TSS | K562 | blood |