Variant report
Variant | esv2764106 |
---|---|
Chromosome Location | chr8:2292235-2583198 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:1680)
- CpG islands (count:2078)
- Chromatin interactive region (count:99)
- LncRNA region (count:61)
- 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 | chr8:2569699-2570363 | K562 | blood: | n/a | n/a |
2 | ARID3A | chr8:2582455-2583099 | K562 | blood: | n/a | n/a |
3 | ARID3A | chr8:2481567-2481907 | K562 | blood: | n/a | n/a |
4 | ARID3A | chr8:2422230-2422288 | HepG2 | liver: | n/a | n/a |
5 | ARID3A | chr8:2498207-2498629 | K562 | blood: | n/a | n/a |
6 | ARID3A | chr8:2571430-2571701 | K562 | blood: | n/a | n/a |
7 | ATF1 | chr8:2321922-2322096 | K562 | blood: | n/a | n/a |
8 | ATF1 | chr8:2364197-2364540 | K562 | blood: | n/a | n/a |
9 | ATF1 | chr8:2581374-2581475 | K562 | blood: | n/a | n/a |
10 | ATF2 | chr8:2511856-2512641 | GM12878 | blood: | n/a | n/a |
11 | ATF2 | chr8:2556809-2557171 | GM12878 | blood: | n/a | n/a |
12 | ATF2 | chr8:2575097-2575545 | GM12878 | blood: | n/a | n/a |
13 | ATF2 | chr8:2556735-2557319 | GM12878 | blood: | n/a | n/a |
14 | ATF2 | chr8:2575121-2575588 | GM12878 | blood: | n/a | n/a |
15 | ATF2 | chr8:2511706-2512568 | GM12878 | blood: | n/a | n/a |
16 | BACH1 | chr8:2558085-2558096 | K562 | blood: | n/a | n/a |
17 | BACH1 | chr8:2480966-2481250 | H1-hESC | embryonic stem cell: | n/a | n/a |
18 | BACH1 | chr8:2365267-2365272 | H1-hESC | embryonic stem cell: | n/a | n/a |
19 | BACH1 | chr8:2476042-2476063 | K562 | blood: | n/a | n/a |
20 | BACH1 | chr8:2383091-2383398 | H1-hESC | embryonic stem cell: | n/a | n/a |
21 | BATF | chr8:2575165-2575442 | GM12878 | blood: | n/a | chr8:2575395-2575403 |
22 | BATF | chr8:2577159-2577434 | GM12878 | blood: | n/a | chr8:2577308-2577319 |
23 | BATF | chr8:2511759-2512659 | GM12878 | blood: | n/a | n/a |
24 | BATF | chr8:2556758-2557340 | GM12878 | blood: | n/a | n/a |
25 | BATF | chr8:2511886-2512235 | GM12878 | blood: | n/a | n/a |
26 | BATF | chr8:2575236-2575412 | GM12878 | blood: | n/a | chr8:2575395-2575403 |
27 | BATF | chr8:2556819-2557194 | GM12878 | blood: | n/a | n/a |
28 | BATF | chr8:2577057-2577495 | GM12878 | blood: | n/a | chr8:2577308-2577319 |
29 | BCL11A | chr8:2556744-2557182 | GM12878 | blood: | n/a | n/a |
30 | BCL11A | chr8:2575139-2575457 | GM12878 | blood: | n/a | n/a |
31 | BCL11A | chr8:2576992-2577351 | GM12878 | blood: | n/a | n/a |
32 | BCL11A | chr8:2413234-2413557 | GM12878 | blood: | n/a | n/a |
33 | BCL11A | chr8:2512018-2512589 | GM12878 | blood: | n/a | n/a |
34 | BCL11A | chr8:2511931-2512590 | GM12878 | blood: | n/a | n/a |
35 | BCL11A | chr8:2577041-2577262 | GM12878 | blood: | n/a | n/a |
36 | BCL3 | chr8:2508476-2508796 | GM12878 | blood: | n/a | n/a |
37 | BCL3 | chr8:2575150-2575417 | GM12878 | blood: | n/a | n/a |
38 | BCL3 | chr8:2511603-2512224 | GM12878 | blood: | n/a | chr8:2511913-2511922 |
39 | BCL3 | chr8:2512239-2512646 | GM12878 | blood: | n/a | n/a |
40 | BCL3 | chr8:2510316-2510701 | GM12878 | blood: | n/a | n/a |
41 | BCL3 | chr8:2339563-2339921 | GM12878 | blood: | n/a | n/a |
42 | BCL3 | chr8:2556799-2557285 | GM12878 | blood: | n/a | n/a |
43 | BCL3 | chr8:2339608-2340114 | GM12878 | blood: | n/a | n/a |
44 | BCLAF1 | chr8:2512301-2512644 | GM12878 | blood: | n/a | n/a |
45 | BCLAF1 | chr8:2511560-2512013 | GM12878 | blood: | n/a | chr8:2511913-2511922 |
46 | BCLAF1 | chr8:2556824-2557149 | GM12878 | blood: | n/a | n/a |
47 | BHLHE40 | chr8:2498275-2498635 | K562 | blood: | n/a | n/a |
48 | BHLHE40 | chr8:2569644-2569660 | GM12878 | blood: | n/a | n/a |
49 | BHLHE40 | chr8:2480933-2481231 | K562 | blood: | n/a | n/a |
50 | BHLHE40 | chr8:2505194-2505413 | GM12878 | blood: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr8:2419444-2419494 | RPTEC | kidney: | n/a |
2 | chr8:2337813-2337863 | Jurkat | blood: | n/a |
3 | chr8:2418966-2419016 | Hepatocyte | liver: | n/a |
4 | chr8:2549296-2549346 | GM19239 | blood: | n/a |
5 | chr8:2419444-2419494 | RPTEC | kidney: | n/a |
6 | chr8:2337813-2337863 | Jurkat | blood: | n/a |
7 | chr8:2418966-2419016 | Hepatocyte | liver: | n/a |
8 | chr8:2549296-2549346 | GM19239 | blood: | n/a |
9 | chr8:2383594-2383644 | A549 | lung: | n/a |
10 | chr8:2420061-2420111 | AG10803 | skin: | n/a |
11 | chr8:2341828-2341878 | IMR90 | lung: | fetal |
12 | chr8:2483325-2483375 | PFSK-1 | brain: | n/a |
13 | chr8:2549296-2549346 | AG04449 | skin: | fetal |
14 | chr8:2418966-2419016 | SAEC | small airway: | n/a |
15 | chr8:2420061-2420111 | ovcar-3 | ovarian: | n/a |
16 | chr8:2538355-2538405 | HIPEpiC | eye: | n/a |
17 | chr8:2488691-2488741 | Hela-S3 | cervix: | n/a |
18 | chr8:2419822-2419872 | K562 | blood: | n/a |
19 | chr8:2488691-2488741 | SKMC | muscle: | n/a |
20 | chr8:2419444-2419494 | IMR90 | lung: | fetal |
21 | chr8:2549080-2549130 | AG04450 | lung: | fetal |
22 | chr8:2538305-2538355 | HCF | heart: | n/a |
23 | chr8:2549270-2549320 | MCF-7 | breast: | n/a |
24 | chr8:2548901-2548951 | HCPEpiC | choroid plexus: | n/a |
25 | chr8:2341828-2341878 | H1-hESC | embryonic stem cell: | embryo |
26 | chr8:2418843-2418893 | MCF-7 | breast: | n/a |
27 | chr8:2549296-2549346 | BJ | skin: | n/a |
28 | chr8:2483325-2483375 | HCM | heart: | n/a |
29 | chr8:2337492-2337542 | ovcar-3 | ovarian: | n/a |
30 | chr8:2419119-2419169 | HNPCEpiC | eye: | n/a |
31 | chr8:2383594-2383644 | HMEC | breast: | n/a |
32 | chr8:2419119-2419169 | H1-hESC | embryonic stem cell: | embryo |
33 | chr8:2341828-2341878 | HMEC | breast: | n/a |
34 | chr8:2476682-2476732 | PFSK-1 | brain: | n/a |
35 | chr8:2545988-2546038 | AG04449 | skin: | fetal |
36 | chr8:2548901-2548951 | HCT-116 | colon: | n/a |
37 | chr8:2418966-2419016 | HRE | kidney: | n/a |
38 | chr8:2538305-2538355 | SK-N-MC | brain: | n/a |
39 | chr8:2420061-2420111 | RPTEC | kidney: | n/a |
40 | chr8:2481226-2481276 | AG04450 | lung: | fetal |
41 | chr8:2420061-2420111 | HepG2 | liver: | n/a |
42 | chr8:2538249-2538299 | AG09309 | skin: | n/a |
43 | chr8:2488691-2488741 | ECC-1 | luminal epithelium: | n/a |
44 | chr8:2549080-2549130 | LNCaP | prostate: | n/a |
45 | chr8:2418843-2418893 | HepG2 | liver: | n/a |
46 | chr8:2418143-2418193 | NH-A | brain: | n/a |
47 | chr8:2476682-2476732 | MCF10A-Er-Src | breast: | n/a |
48 | chr8:2363092-2363142 | GM12878 | blood: | n/a |
49 | chr8:2538305-2538355 | PFSK-1 | brain: | n/a |
50 | chr8:2418143-2418193 | HepG2 | liver: | n/a |
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr8:2439131..2441221-chr8:2443084..2444949,2 | K562 | blood: | |
2 | chr8:2578255..2580228-chr8:2646659..2649405,2 | K562 | blood: | |
3 | chr8:2568252..2570741-chr8:2670037..2672346,3 | K562 | blood: | |
4 | chr8:2563425..2566170-chr8:2680096..2682261,2 | K562 | blood: | |
5 | chr8:2555193..2558064-chr8:2558370..2560198,2 | K562 | blood: | |
6 | chr8:2441868..2443502-chr8:2450013..2451632,2 | K562 | blood: | |
7 | chr8:2386918..2389888-chr8:2391366..2394177,3 | K562 | blood: | |
8 | chr8:2523638..2525296-chr8:2550223..2552955,2 | K562 | blood: | |
9 | chr8:2569834..2572343-chr8:2683951..2686234,2 | K562 | blood: | |
10 | chr8:2578154..2579763-chr8:2619502..2622316,2 | K562 | blood: | |
11 | chr8:2499683..2502977-chr8:2504962..2506847,3 | K562 | blood: | |
12 | chr8:2564777..2566535-chr8:2633073..2636041,2 | K562 | blood: | |
13 | chr8:2487751..2489850-chr8:2492205..2494827,2 | K562 | blood: | |
14 | chr8:2523638..2525296-chr8:2550223..2552955,2 | K562 | blood: | |
15 | chr8:2522746..2525296-chr8:2550223..2552690,2 | K562 | blood: | |
16 | chr8:2527298..2531531-chr8:2571196..2574583,3 | K562 | blood: | |
17 | chr8:2500475..2503387-chr8:2543405..2545432,2 | K562 | blood: | |
18 | chr8:2426482..2427246-chr8:2671820..2672460,2 | MCF-7 | breast: | |
19 | chr8:2485717..2487304-chr8:2488828..2491745,2 | K562 | blood: | |
20 | chr8:2485717..2487304-chr8:2488828..2491745,2 | K562 | blood: | |
21 | chr8:2500475..2503387-chr8:2543405..2545432,2 | K562 | blood: | |
22 | chr8:2487751..2489850-chr8:2492205..2494827,2 | K562 | blood: | |
23 | chr8:2499683..2502977-chr8:2504962..2506847,3 | K562 | blood: | |
24 | chr8:2501130..2503173-chr8:2505670..2508486,2 | K562 | blood: | |
25 | chr8:2578577..2581342-chr8:2628973..2630949,2 | K562 | blood: | |
26 | chr8:2034544..2035110-chr8:2312572..2313377,2 | MCF-7 | breast: | |
27 | chr8:2486752..2490749-chr8:2493299..2495951,3 | K562 | blood: | |
28 | chr8:2510133..2511734-chr8:2513835..2516720,2 | K562 | blood: | |
29 | chr8:2241113..2241844-chr8:2312263..2313095,3 | MCF-7 | breast: | |
30 | chr8:2510234..2512755-chr8:2514414..2516720,2 | K562 | blood: | |
31 | chr8:2506228..2508567-chr8:2527407..2529013,2 | K562 | blood: | |
32 | chr8:2547306..2548966-chr8:2550083..2551801,2 | K562 | blood: | |
33 | chr8:2497129..2499785-chr8:2507800..2510301,2 | K562 | blood: | |
34 | chr8:2469097..2469662-chr8:2481085..2481734,2 | K562 | blood: | |
35 | chr8:2555193..2558064-chr8:2558370..2560198,2 | K562 | blood: | |
36 | chr8:2559591..2561696-chr8:2585526..2587856,2 | K562 | blood: | |
37 | chr8:2547282..2550565-chr8:2554258..2557682,4 | K562 | blood: | |
38 | chr8:2554533..2557037-chr8:2557281..2558843,2 | MCF-7 | breast: | |
39 | chr8:2582217..2584470-chr8:2644052..2646887,2 | K562 | blood: | |
40 | chr8:2552954..2555727-chr8:2581547..2584514,2 | K562 | blood: | |
41 | chr8:2499248..2502177-chr8:2672093..2674140,2 | K562 | blood: | |
42 | chr8:2569757..2570653-chr8:2671876..2672455,2 | K562 | blood: | |
43 | chr8:2469447..2471914-chr8:2476064..2479044,2 | K562 | blood: | |
44 | chr8:2448991..2451601-chr8:2459383..2460898,2 | K562 | blood: | |
45 | chr8:2419689..2421858-chr8:2422895..2425675,3 | K562 | blood: | |
46 | chr8:2578568..2580077-chr8:2629449..2631121,2 | K562 | blood: | |
47 | chr8:2482979..2484978-chr8:2488581..2491856,3 | K562 | blood: | |
48 | chr8:2522746..2525296-chr8:2550223..2552690,2 | K562 | blood: | |
49 | chr8:2497129..2499785-chr8:2507800..2510301,2 | K562 | blood: | |
50 | chr8:2482979..2484978-chr8:2488581..2491856,3 | K562 | blood: |
No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-CSMD1-4 | chr8:2369546-2369693 | ENSG00000253444 |
2 | lnc-CSMD1-2 | chr8:2453716-2453795 | ENSG00000249694 |
3 | lnc-CSMD1-1 | chr8:2536358-2536440 | ENSG00000254319 |
4 | lnc-CSMD1-16 | chr8:2411325-2411575 | NONHSAT124720 |
5 | lnc-CSMD1-2 | chr8:2453716-2453795 | ENSG00000249694 |
6 | lnc-CSMD1-1 | chr8:2532238-2532353 | ENSG00000254319 |
7 | lnc-CSMD1-1 | chr8:2532238-2532353 | ENSG00000254319 |
8 | lnc-CSMD1-1 | chr8:2562746-2562817 | ENSG00000254319 |
9 | lnc-CSMD1-1 | chr8:2562746-2562817 | ENSG00000254319 |
10 | lnc-CSMD1-2 | chr8:2447078-2448340 | XLOC_006979 |
11 | lnc-MYOM2-3 | chr8:2376770-2376860 | ENSG00000253855 |
12 | lnc-CSMD1-2 | chr8:2461872-2462021 | XLOC_006979 |
13 | lnc-CSMD1-1 | chr8:2554056-2554472 | XLOC_006980 |
14 | lnc-CSMD1-1 | chr8:2579024-2579126 | ENSG00000254319 |
15 | lnc-CSMD1-1 | chr8:2562746-2562817 | XLOC_006980 |
16 | lnc-CSMD1-3 | chr8:2413377-2413572 | XLOC_006978 |
17 | lnc-CSMD1-1 | chr8:2562746-2562808 | XLOC_006980 |
18 | lnc-CSMD1-1 | chr8:2523591-2523700 | ENSG00000254319 |
19 | lnc-CSMD1-1 | chr8:2527293-2527521 | ENSG00000254319 |
20 | lnc-CSMD1-1 | chr8:2562746-2562817 | ENSG00000254319 |
21 | lnc-CSMD1-15 | chr8:2467790-2467860 | ucscGeneNc_uc003wqa_2 |
22 | lnc-MYOM2-3 | chr8:2379067-2379308 | ENSG00000253855 |
23 | lnc-CSMD1-2 | chr8:2447076-2448340 | ENSG00000249694 |
24 | lnc-CSMD1-2 | chr8:2452656-2452791 | ENSG00000249694 |
25 | lnc-CSMD1-12 | chr8:2573277-2573364 | ucscGeneNc_uc003wqb_1 |
26 | lnc-MYOM2-10 | chr8:2533633-2534528 | NONHSAT124732 |
27 | lnc-CSMD1-3 | chr8:2387147-2387293 | XLOC_006978 |
28 | lnc-CSMD1-1 | chr8:2562746-2562851 | XLOC_006980 |
29 | lnc-MYOM2-9 | chr8:2414385-2414541 | NONHSAT124719 |
30 | lnc-CSMD1-2 | chr8:2480383-2480453 | XLOC_006979 |
31 | lnc-CSMD1-15 | chr8:2441123-2441202 | ucscGeneNc_uc003wqa_2 |
32 | lnc-CSMD1-1 | chr8:2532111-2532353 | XLOC_006980 |
33 | lnc-CSMD1-2 | chr8:2480383-2480453 | NONHSAT124723 |
34 | lnc-CSMD1-2 | chr8:2447076-2448340 | ENSG00000249694 |
35 | lnc-CSMD1-4 | chr8:2350992-2351207 | ENSG00000253444 |
36 | lnc-CSMD1-12 | chr8:2550153-2550224 | ucscGeneNc_uc003wqb_1 |
37 | lnc-CSMD1-2 | chr8:2452656-2452794 | ENSG00000249694 |
38 | lnc-CSMD1-1 | chr8:2554297-2554472 | XLOC_006980 |
39 | lnc-CSMD1-15 | chr8:2434485-2435747 | ucscGeneNc_uc003wqa_2 |
40 | lnc-CSMD1-14 | chr8:2441571-2442129 | NONHSAT124721 |
41 | lnc-CSMD1-2 | chr8:2461872-2462021 | NONHSAT124723 |
42 | lnc-CSMD1-2 | chr8:2461872-2462021 | ENSG00000249694 |
43 | lnc-CSMD1-2 | chr8:2480383-2480453 | ENSG00000249694 |
44 | lnc-CSMD1-15 | chr8:2449279-2449428 | ucscGeneNc_uc003wqa_2 |
45 | lnc-CSMD1-2 | chr8:2480383-2480453 | ENSG00000249694 |
46 | lnc-CSMD1-2 | chr8:2453716-2453795 | NONHSAT124723 |
47 | lnc-MYOM2-3 | chr8:2376124-2376349 | ENSG00000253855 |
48 | lnc-CSMD1-2 | chr8:2452654-2452794 | NONHSAT124723 |
49 | lnc-CSMD1-1 | chr8:2558974-2559395 | ENSG00000254319 |
50 | lnc-CSMD1-4 | chr8:2368038-2368185 | ENSG00000253444 |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000249694 | TF binding region |
ENSG00000253855 | TF binding region |
ENSG00000253444 | TF binding region |
ENSG00000253853 | TF binding region |
ENSG00000249694 | CpG island |
ENSG00000253855 | CpG island |
ENSG00000253444 | CpG island |
ENSG00000253853 | CpG island |
ENSG00000183117 | chromatin interactions |
ENSG00000249694 | chromatin interactions |
ENSG00000254319 | chromatin interactions |
PPP3R1 | miRNA target sites |
PPM1D | miRNA target sites |
RYK | miRNA target sites |
LARP4 | miRNA target sites |
AP3M1 | miRNA target sites |
TRIP12 | miRNA target sites |
YWHAZ | miRNA target sites |
BCL11A | miRNA target sites |
TXNDC16 | miRNA target sites |
SLC39A11 | miRNA target sites |
SDHC | miRNA target sites |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs147484472 | chr8:2292270-2292271 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs187506858 | chr8:2292328-2292329 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs6992567 | chr8:2292329-2292330 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs538923259 | chr8:2292385-2292386 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs143848161 | chr8:2292419-2292420 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs6997681 | chr8:2292464-2292465 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
7 | rs34267357 | chr8:2292468-2292469 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
8 | rs553385635 | chr8:2292476-2292477 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs60448366 | chr8:2292486-2292487 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs574895646 | chr8:2292515-2292516 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs4256620 | chr8:2292517-2292518 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
12 | rs147318128 | chr8:2292527-2292528 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs7017375 | chr8:2292537-2292538 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
14 | rs535681638 | chr8:2292539-2292540 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs557019710 | chr8:2292545-2292546 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs559726153 | chr8:2292547-2292548 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs555168110 | chr8:2292554-2292555 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs192869534 | chr8:2292582-2292583 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs202131317 | chr8:2292583-2292584 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs543520052 | chr8:2292630-2292631 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs563431227 | chr8:2292635-2292636 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs568028388 | chr8:2292638-2292639 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs78823318 | chr8:2292643-2292644 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs550430867 | chr8:2292658-2292659 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs570227998 | chr8:2292663-2292664 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs538884174 | chr8:2292675-2292676 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs148804584 | chr8:2292680-2292681 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs566033356 | chr8:2292695-2292696 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs185794526 | chr8:2292700-2292701 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs554966374 | chr8:2292735-2292736 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs35399556 | chr8:2292745-2292746 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
32 | rs543879370 | chr8:2292756-2292757 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs557223182 | chr8:2292850-2292851 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs577103750 | chr8:2292896-2292897 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs112548830 | chr8:2292940-2292941 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs559640217 | chr8:2292946-2292947 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs190471607 | chr8:2292956-2292957 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs559338473 | chr8:2292966-2292967 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs528379819 | chr8:2292984-2292985 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs541791308 | chr8:2293055-2293056 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs193219310 | chr8:2293061-2293062 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs372239041 | chr8:2293062-2293063 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs372470983 | chr8:2293067-2293068 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs550641616 | chr8:2293079-2293080 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs570459611 | chr8:2293099-2293100 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs139090209 | chr8:2293129-2293130 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs144016192 | chr8:2293131-2293132 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs565997655 | chr8:2293173-2293174 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs534972053 | chr8:2293189-2293190 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs561769993 | chr8:2293212-2293213 | Weak transcription | 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 | 21364760 | 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 |
Cancer | 20164920 | CNVD |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
Non-syndromic sensorineural hearing loss | 17289997 | 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 |
Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
early-passage human iPS cells | 21368824 | CNVD |
Colorectal cancer | 16774939 | CNVD |
Schizophrenia | 23813976 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr8:2283200-2296200 | Weak transcription | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
2 | chr8:2296000-2296600 | ZNF genes & repeats | Pancreas | Pancrea |
3 | chr8:2296000-2296800 | ZNF genes & repeats | Gastric | stomach |
4 | chr8:2296200-2296800 | Active TSS | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
5 | chr8:2306800-2307000 | Enhancers | hESC Derived CD56+ Mesoderm Cultured Cells | ES cell derived |
6 | chr8:2306800-2307000 | Enhancers | Fetal Thymus | thymus |
7 | chr8:2307600-2307800 | Enhancers | hESC Derived CD56+ Mesoderm Cultured Cells | ES cell derived |
8 | chr8:2307800-2308200 | Enhancers | H1 Cell Line | embryonic stem cell |
9 | chr8:2307800-2308600 | Enhancers | H1 Derived Mesenchymal Stem Cells | ES cell derived |
10 | chr8:2308000-2308400 | Enhancers | HUES48 Cell Line | embryonic stem cell |
11 | chr8:2308000-2308400 | Enhancers | HUES6 Cell Line | embryonic stem cell |
12 | chr8:2308000-2308400 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
13 | chr8:2308000-2308400 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
14 | chr8:2308000-2308400 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
15 | chr8:2308600-2312200 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
16 | chr8:2309200-2309400 | Enhancers | Fetal Brain Male | brain |
17 | chr8:2309400-2311600 | Weak transcription | Fetal Brain Male | brain |
18 | chr8:2311000-2311800 | Enhancers | Fetal Heart | heart |
19 | chr8:2311600-2311800 | Enhancers | Fetal Brain Male | brain |
20 | chr8:2311800-2312400 | Weak transcription | Fetal Brain Male | brain |
21 | chr8:2312000-2312400 | Enhancers | Pancreas | Pancrea |
22 | chr8:2312400-2313200 | Enhancers | Fetal Brain Male | brain |
23 | chr8:2312400-2314800 | Weak transcription | Pancreas | Pancrea |
24 | chr8:2319200-2319400 | Enhancers | iPS DF 6.9 Cell Line | embryonic stem cell |
25 | chr8:2319200-2320400 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
26 | chr8:2319200-2320800 | Enhancers | HUES64 Cell Line | embryonic stem cell |
27 | chr8:2319400-2319800 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
28 | chr8:2319600-2320400 | Enhancers | HUES48 Cell Line | embryonic stem cell |
29 | chr8:2319800-2320800 | Weak transcription | iPS-15b Cell Line | embryonic stem cell |
30 | chr8:2320800-2321000 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
31 | chr8:2337000-2337600 | Enhancers | Fetal Thymus | thymus |
32 | chr8:2337200-2337400 | Enhancers | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
33 | chr8:2337400-2339600 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
34 | chr8:2339600-2340000 | ZNF genes & repeats | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
35 | chr8:2339800-2340000 | Enhancers | H9 Cell Line | embryonic stem cell |
36 | chr8:2339800-2340000 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
37 | chr8:2339800-2340000 | Enhancers | Pancreas | Pancrea |
38 | chr8:2339800-2340000 | Bivalent Enhancer | K562 | blood |
39 | chr8:2339800-2340200 | ZNF genes & repeats | Fetal Kidney | kidney |
40 | chr8:2340200-2340600 | Weak transcription | Fetal Kidney | kidney |
41 | chr8:2341200-2343000 | Weak transcription | Spleen | Spleen |
42 | chr8:2343000-2343200 | Enhancers | Spleen | Spleen |
43 | chr8:2346400-2351000 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
44 | chr8:2348200-2349000 | Enhancers | Brain Hippocampus Middle | brain |
45 | chr8:2348400-2349000 | Enhancers | Brain Anterior Caudate | brain |
46 | chr8:2348400-2349000 | Enhancers | Brain Cingulate Gyrus | brain |
47 | chr8:2348400-2349200 | Enhancers | Brain Substantia Nigra | brain |
48 | chr8:2348800-2349200 | Enhancers | Placenta Amnion | Placenta Amnion |
49 | chr8:2350200-2351000 | ZNF genes & repeats | iPS-15b Cell Line | embryonic stem cell |
50 | chr8:2352200-2352400 | Flanking Bivalent TSS/Enh | Lung | lung |