Variant report
Variant | nsv609680 |
---|---|
Chromosome Location | chr8:2321495-2596106 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:1898)
- CpG islands (count:2566)
- Chromatin interactive region (count:109)
- LncRNA region (count:68)
- 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 | chr8:2422230-2422288 | HepG2 | liver: | n/a | n/a |
2 | ARID3A | chr8:2582455-2583099 | K562 | blood: | n/a | n/a |
3 | ARID3A | chr8:2592824-2593695 | K562 | blood: | n/a | chr8:2593039-2593055 |
4 | ARID3A | chr8:2583362-2583786 | K562 | blood: | n/a | n/a |
5 | ARID3A | chr8:2571430-2571701 | K562 | blood: | n/a | n/a |
6 | ARID3A | chr8:2591085-2592231 | K562 | blood: | n/a | n/a |
7 | ARID3A | chr8:2586788-2587042 | K562 | blood: | n/a | n/a |
8 | ARID3A | chr8:2588688-2589234 | K562 | blood: | n/a | n/a |
9 | ARID3A | chr8:2498207-2498629 | K562 | blood: | n/a | n/a |
10 | ARID3A | chr8:2569699-2570363 | K562 | blood: | n/a | n/a |
11 | ARID3A | chr8:2481567-2481907 | K562 | blood: | n/a | n/a |
12 | ATF1 | chr8:2588667-2588920 | K562 | blood: | n/a | n/a |
13 | ATF1 | chr8:2321922-2322096 | K562 | blood: | n/a | n/a |
14 | ATF1 | chr8:2591024-2591651 | K562 | blood: | n/a | n/a |
15 | ATF1 | chr8:2364197-2364540 | K562 | blood: | n/a | n/a |
16 | ATF1 | chr8:2581374-2581475 | K562 | blood: | n/a | n/a |
17 | ATF2 | chr8:2556809-2557171 | GM12878 | blood: | n/a | n/a |
18 | ATF2 | chr8:2511706-2512568 | GM12878 | blood: | n/a | n/a |
19 | ATF2 | chr8:2575121-2575588 | GM12878 | blood: | n/a | n/a |
20 | ATF2 | chr8:2511856-2512641 | GM12878 | blood: | n/a | n/a |
21 | ATF2 | chr8:2575097-2575545 | GM12878 | blood: | n/a | n/a |
22 | ATF2 | chr8:2556735-2557319 | GM12878 | blood: | n/a | n/a |
23 | ATF3 | chr8:2591062-2591346 | K562 | blood: | n/a | n/a |
24 | BACH1 | chr8:2558085-2558096 | K562 | blood: | n/a | n/a |
25 | BACH1 | chr8:2476042-2476063 | K562 | blood: | n/a | n/a |
26 | BACH1 | chr8:2383091-2383398 | H1-hESC | embryonic stem cell: | n/a | n/a |
27 | BACH1 | chr8:2365267-2365272 | H1-hESC | embryonic stem cell: | n/a | n/a |
28 | BACH1 | chr8:2480966-2481250 | H1-hESC | embryonic stem cell: | n/a | n/a |
29 | BATF | chr8:2575165-2575442 | GM12878 | blood: | n/a | chr8:2575395-2575403 |
30 | BATF | chr8:2556758-2557340 | GM12878 | blood: | n/a | n/a |
31 | BATF | chr8:2511886-2512235 | GM12878 | blood: | n/a | n/a |
32 | BATF | chr8:2577057-2577495 | GM12878 | blood: | n/a | chr8:2577308-2577319 |
33 | BATF | chr8:2511759-2512659 | GM12878 | blood: | n/a | n/a |
34 | BATF | chr8:2556819-2557194 | GM12878 | blood: | n/a | n/a |
35 | BATF | chr8:2575236-2575412 | GM12878 | blood: | n/a | chr8:2575395-2575403 |
36 | BATF | chr8:2577159-2577434 | GM12878 | blood: | n/a | chr8:2577308-2577319 |
37 | BCL11A | chr8:2413234-2413557 | GM12878 | blood: | n/a | n/a |
38 | BCL11A | chr8:2556744-2557182 | GM12878 | blood: | n/a | n/a |
39 | BCL11A | chr8:2511931-2512590 | GM12878 | blood: | n/a | n/a |
40 | BCL11A | chr8:2575139-2575457 | GM12878 | blood: | n/a | n/a |
41 | BCL11A | chr8:2576992-2577351 | GM12878 | blood: | n/a | n/a |
42 | BCL11A | chr8:2512018-2512589 | GM12878 | blood: | n/a | n/a |
43 | BCL11A | chr8:2577041-2577262 | GM12878 | blood: | n/a | n/a |
44 | BCL3 | chr8:2339608-2340114 | GM12878 | blood: | n/a | n/a |
45 | BCL3 | chr8:2556799-2557285 | GM12878 | blood: | n/a | n/a |
46 | BCL3 | chr8:2508476-2508796 | GM12878 | blood: | n/a | n/a |
47 | BCL3 | chr8:2510316-2510701 | GM12878 | blood: | n/a | n/a |
48 | BCL3 | chr8:2511603-2512224 | GM12878 | blood: | n/a | chr8:2511913-2511922 |
49 | BCL3 | chr8:2575150-2575417 | GM12878 | blood: | n/a | n/a |
50 | BCL3 | chr8:2512239-2512646 | GM12878 | blood: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr8:2591265-2591315 | T-47D | breast: | n/a |
2 | chr8:2337492-2337542 | HCPEpiC | choroid plexus: | n/a |
3 | chr8:2586225-2586275 | CMK | blood: | n/a |
4 | chr8:2415717-2415767 | NHDF-neo | bronchial: | n/a |
5 | chr8:2591265-2591315 | T-47D | breast: | n/a |
6 | chr8:2337492-2337542 | HCPEpiC | choroid plexus: | n/a |
7 | chr8:2586225-2586275 | CMK | blood: | n/a |
8 | chr8:2415717-2415767 | NHDF-neo | bronchial: | n/a |
9 | chr8:2420061-2420111 | AG09309 | skin: | n/a |
10 | chr8:2586225-2586275 | HUVEC | blood vessel: | n/a |
11 | chr8:2418843-2418893 | HMEC | breast: | n/a |
12 | chr8:2488691-2488741 | SK-N-SH | brain: | n/a |
13 | chr8:2415717-2415767 | BJ | skin: | n/a |
14 | chr8:2538305-2538355 | A549 | lung: | n/a |
15 | chr8:2363092-2363142 | ECC-1 | luminal epithelium: | n/a |
16 | chr8:2586225-2586275 | Caco-2 | colon: | n/a |
17 | chr8:2415717-2415767 | GM19239 | blood: | n/a |
18 | chr8:2421548-2421598 | HCF | heart: | n/a |
19 | chr8:2420061-2420111 | K562 | blood: | n/a |
20 | chr8:2337492-2337542 | BJ | skin: | n/a |
21 | chr8:2585235-2585285 | K562 | blood: | n/a |
22 | chr8:2419822-2419872 | HCF | heart: | n/a |
23 | chr8:2586911-2586961 | BE2_C | brain: | n/a |
24 | chr8:2549270-2549320 | NHDF-neo | bronchial: | n/a |
25 | chr8:2480483-2480533 | BJ | skin: | n/a |
26 | chr8:2591411-2591461 | Hepatocyte | liver: | n/a |
27 | chr8:2418843-2418893 | LNCaP | prostate: | n/a |
28 | chr8:2363737-2363787 | BE2_C | brain: | n/a |
29 | chr8:2421548-2421598 | HCM | heart: | n/a |
30 | chr8:2418966-2419016 | IMR90 | lung: | fetal |
31 | chr8:2549296-2549346 | U87 | brain: | n/a |
32 | chr8:2481226-2481276 | ProgFib | skin: | n/a |
33 | chr8:2538355-2538405 | GM12891 | blood: | n/a |
34 | chr8:2549080-2549130 | HNPCEpiC | eye: | n/a |
35 | chr8:2421548-2421598 | HL-60 | blood: | n/a |
36 | chr8:2480426-2480476 | RPTEC | kidney: | n/a |
37 | chr8:2418143-2418193 | CMK | blood: | n/a |
38 | chr8:2418520-2418570 | GM12878 | blood: | n/a |
39 | chr8:2363737-2363787 | AG04450 | lung: | fetal |
40 | chr8:2549296-2549346 | HEEpiC | esophagus: | n/a |
41 | chr8:2363737-2363787 | HCPEpiC | choroid plexus: | n/a |
42 | chr8:2585976-2586026 | BJ | skin: | n/a |
43 | chr8:2483325-2483375 | HIPEpiC | eye: | n/a |
44 | chr8:2341828-2341878 | HNPCEpiC | eye: | n/a |
45 | chr8:2538355-2538405 | HUVEC | blood vessel: | n/a |
46 | chr8:2476682-2476732 | HRE | kidney: | n/a |
47 | chr8:2362927-2362977 | AG09309 | skin: | n/a |
48 | chr8:2483325-2483375 | SK-N-MC | brain: | n/a |
49 | chr8:2480426-2480476 | NHDF-neo | bronchial: | n/a |
50 | chr8:2480426-2480476 | PFSK-1 | brain: | n/a |
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr8:2314242..2315996-chr8:2321501..2323245,2 | K562 | blood: | |
2 | chr8:2527298..2531531-chr8:2571196..2574583,3 | K562 | blood: | |
3 | chr8:2591664..2593883-chr8:2609640..2612536,2 | K562 | blood: | |
4 | chr8:2510133..2511734-chr8:2513835..2516720,2 | K562 | blood: | |
5 | chr8:2485717..2487304-chr8:2488828..2491745,2 | K562 | blood: | |
6 | chr8:2562242..2563775-chr8:2567486..2569900,2 | K562 | blood: | |
7 | chr8:2581583..2583717-chr8:2629779..2632659,2 | K562 | blood: | |
8 | chr8:2469447..2471914-chr8:2476064..2479044,2 | K562 | blood: | |
9 | chr8:2591282..2593372-chr8:2644947..2647194,2 | K562 | blood: | |
10 | chr8:2469447..2471914-chr8:2476064..2479044,2 | K562 | blood: | |
11 | chr8:2481168..2482894-chr8:2487375..2489303,2 | K562 | blood: | |
12 | chr8:2448991..2451601-chr8:2459383..2460898,2 | K562 | blood: | |
13 | chr8:2522780..2524643-chr8:2526596..2529136,3 | K562 | blood: | |
14 | chr8:2523638..2525296-chr8:2550223..2552955,2 | K562 | blood: | |
15 | chr8:2555193..2558064-chr8:2558370..2560198,2 | K562 | blood: | |
16 | chr8:2578577..2581342-chr8:2628973..2630949,2 | K562 | blood: | |
17 | chr8:2486752..2490749-chr8:2493299..2495951,3 | K562 | blood: | |
18 | chr8:2554533..2557037-chr8:2557281..2558843,2 | MCF-7 | breast: | |
19 | chr8:2448991..2451601-chr8:2459383..2460898,2 | K562 | blood: | |
20 | chr8:2592045..2593873-chr8:2639139..2641093,2 | K562 | blood: | |
21 | chr8:2486752..2490749-chr8:2493299..2495951,3 | K562 | blood: | |
22 | chr8:2501130..2503173-chr8:2505670..2508486,2 | K562 | blood: | |
23 | chr8:2499248..2502177-chr8:2672093..2674140,2 | K562 | blood: | |
24 | chr8:2497129..2499785-chr8:2507800..2510301,2 | K562 | blood: | |
25 | chr8:2439131..2441221-chr8:2443084..2444949,2 | K562 | blood: | |
26 | chr8:2547282..2550565-chr8:2554258..2557682,4 | K562 | blood: | |
27 | chr8:2587156..2590098-chr8:2597980..2600237,2 | K562 | blood: | |
28 | chr8:2578255..2580228-chr8:2646659..2649405,2 | K562 | blood: | |
29 | chr8:2482979..2484810-chr8:2488581..2490699,2 | K562 | blood: | |
30 | chr8:2556595..2559476-chr8:2562170..2563864,2 | K562 | blood: | |
31 | chr8:2594321..2595985-chr8:2596545..2598928,2 | K562 | blood: | |
32 | chr8:2547466..2548999-chr8:2550083..2552313,2 | K562 | blood: | |
33 | chr8:2552954..2555727-chr8:2581547..2584514,2 | K562 | blood: | |
34 | chr8:2569757..2570653-chr8:2671876..2672455,2 | K562 | blood: | |
35 | chr8:2510234..2512755-chr8:2514414..2516720,2 | K562 | blood: | |
36 | chr8:2469447..2471789-chr8:2476064..2477860,2 | K562 | blood: | |
37 | chr8:2588399..2590579-chr8:2619953..2621933,2 | K562 | blood: | |
38 | chr8:2590579..2593269-chr8:2597345..2599839,2 | K562 | blood: | |
39 | chr8:2426539..2427338-chr8:3141221..3142157,2 | MCF-7 | breast: | |
40 | chr8:2586489..2588767-chr8:2645742..2647467,2 | K562 | blood: | |
41 | chr8:2507364..2510373-chr8:2511304..2513701,3 | K562 | blood: | |
42 | chr8:2386918..2389888-chr8:2391366..2394177,3 | K562 | blood: | |
43 | chr8:2497129..2499785-chr8:2507800..2510301,2 | K562 | blood: | |
44 | chr8:2547282..2550565-chr8:2554258..2557682,4 | K562 | blood: | |
45 | chr8:2469097..2469662-chr8:2481085..2481734,2 | K562 | blood: | |
46 | chr8:2522780..2524643-chr8:2526596..2529136,3 | K562 | blood: | |
47 | chr8:2485717..2487304-chr8:2488828..2491745,2 | K562 | blood: | |
48 | chr8:2522746..2525296-chr8:2550223..2552690,2 | K562 | blood: | |
49 | chr8:2527298..2531531-chr8:2571196..2574583,3 | K562 | blood: | |
50 | chr8:2588918..2591630-chr8:2632391..2633990,2 | K562 | blood: |
No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-CSMD1-4 | chr8:2369546-2369693 | ENSG00000253444 |
2 | lnc-CSMD1-2 | chr8:2453716-2453795 | NONHSAT124723 |
3 | lnc-CSMD1-2 | chr8:2461872-2462021 | XLOC_006979 |
4 | lnc-CSMD1-4 | chr8:2368038-2368185 | ENSG00000253444 |
5 | lnc-CSMD1-2 | chr8:2453716-2453795 | XLOC_006979 |
6 | lnc-CSMD1-1 | chr8:2554056-2554472 | XLOC_006980 |
7 | lnc-CSMD1-1 | chr8:2585870-2585959 | ENSG00000254319 |
8 | lnc-CSMD1-2 | chr8:2461872-2462021 | NONHSAT124723 |
9 | lnc-CSMD1-1 | chr8:2562746-2562851 | XLOC_006980 |
10 | lnc-CSMD1-16 | chr8:2411325-2411575 | NONHSAT124720 |
11 | lnc-CSMD1-15 | chr8:2440063-2440201 | ucscGeneNc_uc003wqa_2 |
12 | lnc-CSMD1-1 | chr8:2532238-2532353 | ENSG00000254319 |
13 | lnc-MYOM2-3 | chr8:2376770-2376860 | ENSG00000253855 |
14 | lnc-CSMD1-1 | chr8:2532238-2532353 | ENSG00000254319 |
15 | lnc-CSMD1-1 | chr8:2585870-2585957 | XLOC_006980 |
16 | lnc-CSMD1-12 | chr8:2573277-2573364 | ucscGeneNc_uc003wqb_1 |
17 | lnc-CSMD1-15 | chr8:2434485-2435747 | ucscGeneNc_uc003wqa_2 |
18 | lnc-CSMD1-1 | chr8:2562746-2562817 | XLOC_006980 |
19 | lnc-CSMD1-1 | chr8:2536358-2536440 | ENSG00000254319 |
20 | lnc-CSMD1-1 | chr8:2558974-2559395 | ENSG00000254319 |
21 | lnc-CSMD1-2 | chr8:2461872-2462021 | ENSG00000249694 |
22 | lnc-CSMD1-1 | chr8:2527341-2527521 | ENSG00000254319 |
23 | lnc-CSMD1-2 | chr8:2453716-2453795 | ENSG00000249694 |
24 | lnc-CSMD1-2 | chr8:2461872-2462021 | ENSG00000249694 |
25 | lnc-CSMD1-15 | chr8:2467790-2467860 | ucscGeneNc_uc003wqa_2 |
26 | lnc-CSMD1-2 | chr8:2480383-2480453 | ENSG00000249694 |
27 | lnc-CSMD1-2 | chr8:2452656-2452791 | ENSG00000249694 |
28 | lnc-CSMD1-3 | chr8:2415813-2415857 | XLOC_006978 |
29 | lnc-CSMD1-2 | chr8:2447076-2448337 | NONHSAT124723 |
30 | lnc-CSMD1-2 | chr8:2480383-2480453 | XLOC_006979 |
31 | lnc-MYOM2-9 | chr8:2414385-2414541 | NONHSAT124719 |
32 | lnc-MYOM2-9 | chr8:2407534-2407710 | NONHSAT124719 |
33 | lnc-MYOM2-10 | chr8:2533633-2534528 | NONHSAT124732 |
34 | lnc-MYOM2-4 | chr8:2584690-2585033 | XLOC_006690 |
35 | lnc-CSMD1-1 | chr8:2585870-2585959 | ENSG00000254319 |
36 | lnc-CSMD1-12 | chr8:2541463-2541879 | ucscGeneNc_uc003wqb_1 |
37 | lnc-CSMD1-1 | chr8:2554297-2554472 | XLOC_006980 |
38 | lnc-CSMD1-2 | chr8:2447078-2448340 | XLOC_006979 |
39 | lnc-CSMD1-1 | chr8:2562746-2562817 | ENSG00000254319 |
40 | lnc-CSMD1-1 | chr8:2585870-2585957 | ENSG00000254319 |
41 | lnc-CSMD1-2 | chr8:2480383-2480453 | ENSG00000249694 |
42 | lnc-CSMD1-1 | chr8:2532111-2532353 | XLOC_006980 |
43 | lnc-CSMD1-3 | chr8:2387147-2387293 | XLOC_006978 |
44 | lnc-CSMD1-15 | chr8:2441123-2441202 | ucscGeneNc_uc003wqa_2 |
45 | lnc-CSMD1-4 | chr8:2350992-2351207 | ENSG00000253444 |
46 | lnc-CSMD1-2 | chr8:2452656-2452794 | XLOC_006979 |
47 | lnc-CSMD1-15 | chr8:2449279-2449428 | ucscGeneNc_uc003wqa_2 |
48 | lnc-CSMD1-1 | chr8:2532238-2532353 | ENSG00000254319 |
49 | lnc-CSMD1-2 | chr8:2447076-2448340 | ENSG00000249694 |
50 | lnc-CSMD1-12 | chr8:2550153-2550224 | ucscGeneNc_uc003wqb_1 |
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 |
ENSG00000254319 | TF binding region |
ENSG00000249694 | CpG island |
ENSG00000253855 | CpG island |
ENSG00000253444 | CpG island |
ENSG00000253853 | CpG island |
ENSG00000254319 | CpG island |
ENSG00000249694 | chromatin interactions |
ENSG00000183117 | chromatin interactions |
ENSG00000254319 | chromatin interactions |
SFRS2IP | miRNA target sites |
AP3M1 | miRNA target sites |
TXNDC16 | miRNA target sites |
LARP4 | miRNA target sites |
PPM1D | miRNA target sites |
BCL11A | miRNA target sites |
YWHAZ | miRNA target sites |
SDHC | miRNA target sites |
RYK | miRNA target sites |
PPP3R1 | miRNA target sites |
TRIP12 | miRNA target sites |
SLC39A11 | miRNA target sites |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs557382920 | chr8:2337056-2337057 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs549307546 | chr8:2337094-2337095 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs181735040 | chr8:2337105-2337106 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs545793173 | chr8:2337139-2337140 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs78041315 | chr8:2337163-2337164 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs559414500 | chr8:2337180-2337181 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs528598531 | chr8:2337227-2337228 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs142939200 | chr8:2337228-2337229 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs541640901 | chr8:2337258-2337259 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs200385939 | chr8:2337284-2337285 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs561895165 | chr8:2337286-2337287 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs530633745 | chr8:2337305-2337306 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs550810981 | chr8:2337334-2337335 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs150532743 | chr8:2337399-2337400 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs185224880 | chr8:2337408-2337409 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs71236240 | chr8:2337421-2337422 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs571748345 | chr8:2337434-2337435 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs189649562 | chr8:2337444-2337445 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs566555079 | chr8:2337463-2337464 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs200514836 | chr8:2337475-2337476 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs535572336 | chr8:2337583-2337584 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs113204810 | chr8:2337671-2337672 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs200589466 | chr8:2337674-2337675 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs112380587 | chr8:2337696-2337697 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs199962399 | chr8:2337805-2337806 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs555190978 | chr8:2337821-2337822 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs534111483 | chr8:2337855-2337856 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs537254114 | chr8:2337881-2337882 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs112225240 | chr8:2338029-2338030 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs201934306 | chr8:2338318-2338319 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs557584525 | chr8:2338363-2338364 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs200758470 | chr8:2338518-2338519 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs577163081 | chr8:2338825-2338826 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs554313160 | chr8:2338826-2338827 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs545778689 | chr8:2338844-2338845 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs552980322 | chr8:2338906-2338907 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs572926470 | chr8:2338945-2338946 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs80194917 | chr8:2338990-2338991 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs144125401 | chr8:2339040-2339041 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs542275656 | chr8:2339104-2339105 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs75695863 | chr8:2339108-2339109 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs76004756 | chr8:2339111-2339112 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs113391020 | chr8:2339143-2339144 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs564362260 | chr8:2339149-2339150 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs533299287 | chr8:2339176-2339177 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs546597316 | chr8:2339184-2339185 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs181508655 | chr8:2339187-2339188 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs528894711 | chr8:2339203-2339204 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs186459197 | chr8:2339215-2339216 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs536504519 | chr8:2339230-2339231 | 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 | 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 |
Non-syndromic sensorineural hearing loss | 17289997 | CNVD |
Non-syndromic sensorineural hearing loss | 17122850 | 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 | chr8:2337000-2337600 | Enhancers | Fetal Thymus | thymus |
2 | chr8:2337200-2337400 | Enhancers | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
3 | chr8:2337400-2339600 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
4 | chr8:2339600-2340000 | ZNF genes & repeats | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
5 | chr8:2339800-2340000 | Enhancers | H9 Cell Line | embryonic stem cell |
6 | chr8:2339800-2340000 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
7 | chr8:2339800-2340000 | Enhancers | Pancreas | Pancrea |
8 | chr8:2339800-2340000 | Bivalent Enhancer | K562 | blood |
9 | chr8:2339800-2340200 | ZNF genes & repeats | Fetal Kidney | kidney |
10 | chr8:2340200-2340600 | Weak transcription | Fetal Kidney | kidney |
11 | chr8:2341200-2343000 | Weak transcription | Spleen | Spleen |
12 | chr8:2343000-2343200 | Enhancers | Spleen | Spleen |
13 | chr8:2346400-2351000 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
14 | chr8:2348200-2349000 | Enhancers | Brain Hippocampus Middle | brain |
15 | chr8:2348400-2349000 | Enhancers | Brain Anterior Caudate | brain |
16 | chr8:2348400-2349000 | Enhancers | Brain Cingulate Gyrus | brain |
17 | chr8:2348400-2349200 | Enhancers | Brain Substantia Nigra | brain |
18 | chr8:2348800-2349200 | Enhancers | Placenta Amnion | Placenta Amnion |
19 | chr8:2350200-2351000 | ZNF genes & repeats | iPS-15b Cell Line | embryonic stem cell |
20 | chr8:2352200-2352400 | Flanking Bivalent TSS/Enh | Lung | lung |
21 | chr8:2352400-2352800 | Enhancers | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
22 | chr8:2352400-2353000 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
23 | chr8:2353000-2353600 | Weak transcription | H9 Derived Neuron Cultured Cells | ES cell derived |
24 | chr8:2353600-2353800 | Enhancers | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
25 | chr8:2353600-2353800 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
26 | chr8:2354400-2354600 | Enhancers | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
27 | chr8:2357800-2359000 | Enhancers | Primary T cells fromperipheralblood | blood |
28 | chr8:2358000-2360800 | Enhancers | Primary T helper naive cells from peripheral blood | blood |
29 | chr8:2358000-2360800 | Enhancers | Primary T helper naive cells fromperipheralblood | blood |
30 | chr8:2358000-2360800 | Enhancers | Primary T killer naive cells fromperipheralblood | blood |
31 | chr8:2358200-2359200 | Enhancers | Primary T helper cells fromperipheralblood | blood |
32 | chr8:2358200-2360200 | Enhancers | Primary T killer memory cells from peripheral blood | blood |
33 | chr8:2358200-2360400 | Enhancers | Primary T helper cells PMA-I stimulated | -- |
34 | chr8:2358400-2358600 | Enhancers | Gastric | stomach |
35 | chr8:2358400-2358800 | Enhancers | Primary T cells effector/memory enriched fromperipheralblood | blood |
36 | chr8:2358400-2360600 | Enhancers | Primary T helper memory cells from peripheral blood 2 | blood |
37 | chr8:2358600-2359000 | Enhancers | Primary hematopoietic stem cells short term culture | blood |
38 | chr8:2358600-2359000 | Enhancers | Primary Natural Killer cells fromperipheralblood | blood |
39 | chr8:2358600-2363600 | Weak transcription | Gastric | stomach |
40 | chr8:2358800-2359000 | Enhancers | Primary T helper memory cells from peripheral blood 1 | blood |
41 | chr8:2359200-2359600 | Weak transcription | Primary T helper cells fromperipheralblood | blood |
42 | chr8:2359600-2359800 | Enhancers | Primary T helper memory cells from peripheral blood 1 | blood |
43 | chr8:2359600-2360600 | Enhancers | Primary T helper cells fromperipheralblood | blood |
44 | chr8:2359800-2360200 | Enhancers | Primary T regulatory cells fromperipheralblood | blood |
45 | chr8:2361200-2362600 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
46 | chr8:2362200-2362400 | Bivalent Enhancer | Stomach Smooth Muscle | stomach |
47 | chr8:2362200-2364400 | Enhancers | Right Atrium | heart |
48 | chr8:2362400-2363200 | Bivalent/Poised TSS | Stomach Smooth Muscle | stomach |
49 | chr8:2362600-2362800 | Bivalent/Poised TSS | Skeletal Muscle Male | skeletal muscle |
50 | chr8:2362600-2363200 | Enhancers | Left Ventricle | heart |