Variant report
Variant | nsv889874 |
---|---|
Chromosome Location | chr8:2511536-2717835 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:1567)
- CpG islands (count:1468)
- Chromatin interactive region (count:179)
- LncRNA region (count:39)
- 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 | chr8:2586788-2587042 | K562 | blood: | n/a | n/a |
2 | ARID3A | chr8:2628561-2628762 | K562 | blood: | n/a | n/a |
3 | ARID3A | chr8:2645493-2646139 | K562 | blood: | n/a | n/a |
4 | ARID3A | chr8:2571430-2571701 | K562 | blood: | n/a | n/a |
5 | ARID3A | chr8:2583362-2583786 | K562 | blood: | n/a | n/a |
6 | ARID3A | chr8:2632277-2632294 | K562 | blood: | n/a | n/a |
7 | ARID3A | chr8:2582455-2583099 | K562 | blood: | n/a | n/a |
8 | ARID3A | chr8:2569699-2570363 | K562 | blood: | n/a | n/a |
9 | ARID3A | chr8:2592824-2593695 | K562 | blood: | n/a | chr8:2593039-2593055 |
10 | ARID3A | chr8:2588688-2589234 | K562 | blood: | n/a | n/a |
11 | ARID3A | chr8:2591085-2592231 | K562 | blood: | n/a | n/a |
12 | ARID3A | chr8:2640879-2641488 | K562 | blood: | n/a | n/a |
13 | ARID3A | chr8:2640546-2640565 | K562 | blood: | n/a | n/a |
14 | ATF1 | chr8:2588667-2588920 | K562 | blood: | n/a | n/a |
15 | ATF1 | chr8:2641154-2641440 | K562 | blood: | n/a | n/a |
16 | ATF1 | chr8:2645670-2646221 | K562 | blood: | n/a | n/a |
17 | ATF1 | chr8:2581374-2581475 | K562 | blood: | n/a | n/a |
18 | ATF1 | chr8:2591024-2591651 | K562 | blood: | n/a | n/a |
19 | ATF2 | chr8:2556735-2557319 | GM12878 | blood: | n/a | n/a |
20 | ATF2 | chr8:2511706-2512568 | GM12878 | blood: | n/a | n/a |
21 | ATF2 | chr8:2511856-2512641 | GM12878 | 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 | ATF2 | chr8:2556809-2557171 | GM12878 | blood: | n/a | n/a |
25 | ATF3 | chr8:2591062-2591346 | K562 | blood: | n/a | n/a |
26 | BACH1 | chr8:2628652-2628871 | K562 | blood: | n/a | n/a |
27 | BACH1 | chr8:2710537-2710713 | H1-hESC | embryonic stem cell: | n/a | n/a |
28 | BACH1 | chr8:2558085-2558096 | K562 | blood: | n/a | n/a |
29 | BACH1 | chr8:2628552-2628844 | H1-hESC | embryonic stem cell: | n/a | n/a |
30 | BATF | chr8:2577159-2577434 | GM12878 | blood: | n/a | chr8:2577308-2577319 |
31 | BATF | chr8:2575165-2575442 | GM12878 | blood: | n/a | chr8:2575395-2575403 |
32 | BATF | chr8:2511886-2512235 | GM12878 | blood: | n/a | n/a |
33 | BATF | chr8:2511759-2512659 | GM12878 | blood: | n/a | n/a |
34 | BATF | chr8:2577057-2577495 | GM12878 | blood: | n/a | chr8:2577308-2577319 |
35 | BATF | chr8:2556758-2557340 | GM12878 | blood: | n/a | n/a |
36 | BATF | chr8:2575236-2575412 | GM12878 | blood: | n/a | chr8:2575395-2575403 |
37 | BATF | chr8:2556819-2557194 | GM12878 | blood: | n/a | n/a |
38 | BCL11A | chr8:2556744-2557182 | GM12878 | blood: | n/a | n/a |
39 | BCL11A | chr8:2577041-2577262 | GM12878 | blood: | n/a | n/a |
40 | BCL11A | chr8:2690564-2690825 | GM12878 | blood: | n/a | chr8:2690626-2690635 |
41 | BCL11A | chr8:2512018-2512589 | GM12878 | blood: | n/a | n/a |
42 | BCL11A | chr8:2511931-2512590 | GM12878 | blood: | n/a | n/a |
43 | BCL11A | chr8:2575139-2575457 | GM12878 | blood: | n/a | n/a |
44 | BCL11A | chr8:2576992-2577351 | GM12878 | blood: | n/a | n/a |
45 | BCL3 | chr8:2556799-2557285 | GM12878 | blood: | n/a | n/a |
46 | BCL3 | chr8:2511603-2512224 | GM12878 | blood: | n/a | chr8:2511913-2511922 |
47 | BCL3 | chr8:2575150-2575417 | GM12878 | blood: | n/a | n/a |
48 | BCL3 | chr8:2512239-2512646 | GM12878 | blood: | n/a | n/a |
49 | BCLAF1 | chr8:2672014-2672364 | GM12878 | blood: | n/a | n/a |
50 | BCLAF1 | chr8:2591118-2591666 | K562 | blood: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr8:2609661-2609711 | CMK | blood: | n/a |
2 | chr8:2669372-2669422 | PANC-1 | pancreas: | n/a |
3 | chr8:2538305-2538355 | ovcar-3 | ovarian: | n/a |
4 | chr8:2591265-2591315 | HMEC | breast: | n/a |
5 | chr8:2609661-2609711 | CMK | blood: | n/a |
6 | chr8:2669372-2669422 | PANC-1 | pancreas: | n/a |
7 | chr8:2538305-2538355 | ovcar-3 | ovarian: | n/a |
8 | chr8:2591265-2591315 | HMEC | breast: | n/a |
9 | chr8:2538249-2538299 | H1-hESC | embryonic stem cell: | embryo |
10 | chr8:2549270-2549320 | GM12892 | blood: | n/a |
11 | chr8:2585235-2585285 | ProgFib | skin: | n/a |
12 | chr8:2538249-2538299 | NB4 | blood: | n/a |
13 | chr8:2585976-2586026 | T-47D | breast: | n/a |
14 | chr8:2609661-2609711 | MCF-7 | breast: | n/a |
15 | chr8:2628628-2628678 | LNCaP | prostate: | n/a |
16 | chr8:2548901-2548951 | NHBE | bronchial: | n/a |
17 | chr8:2586911-2586961 | PFSK-1 | brain: | n/a |
18 | chr8:2549296-2549346 | MCF-7 | breast: | n/a |
19 | chr8:2591207-2591257 | HIPEpiC | eye: | n/a |
20 | chr8:2591265-2591315 | ovcar-3 | ovarian: | n/a |
21 | chr8:2585666-2585716 | HRPEpiC | eye: | n/a |
22 | chr8:2669421-2669471 | Hela-S3 | cervix: | n/a |
23 | chr8:2591265-2591315 | Caco-2 | colon: | n/a |
24 | chr8:2549270-2549320 | MCF-7 | breast: | n/a |
25 | chr8:2609661-2609711 | AG04449 | skin: | fetal |
26 | chr8:2586225-2586275 | GM19239 | blood: | n/a |
27 | chr8:2548901-2548951 | SKMC | muscle: | n/a |
28 | chr8:2585976-2586026 | ovcar-3 | ovarian: | n/a |
29 | chr8:2549296-2549346 | AG10803 | skin: | n/a |
30 | chr8:2549244-2549294 | HCF | heart: | n/a |
31 | chr8:2538355-2538405 | PANC-1 | pancreas: | n/a |
32 | chr8:2538355-2538405 | GM12878 | blood: | n/a |
33 | chr8:2628628-2628678 | HepG2 | liver: | n/a |
34 | chr8:2670359-2670409 | GM12892 | blood: | n/a |
35 | chr8:2549080-2549130 | PrEC | prostate: | n/a |
36 | chr8:2670359-2670409 | HPAEpiC | pulmonary alveolar: | n/a |
37 | chr8:2538249-2538299 | Jurkat | blood: | n/a |
38 | chr8:2549244-2549294 | NT2-D1 | testis: | n/a |
39 | chr8:2549244-2549294 | K562 | blood: | n/a |
40 | chr8:2549270-2549320 | HPAEpiC | pulmonary alveolar: | n/a |
41 | chr8:2548901-2548951 | HEK293 | kidney: | embryo |
42 | chr8:2670187-2670237 | CMK | blood: | n/a |
43 | chr8:2586225-2586275 | NHBE | bronchial: | n/a |
44 | chr8:2591265-2591315 | BE2_C | brain: | n/a |
45 | chr8:2586225-2586275 | SKMC | muscle: | n/a |
46 | chr8:2609691-2609741 | T-47D | breast: | n/a |
47 | chr8:2549244-2549294 | AoSMC | blood vessel: | n/a |
48 | chr8:2591411-2591461 | HCF | heart: | n/a |
49 | chr8:2591207-2591257 | HAEpiC | amniotic membrane: | n/a |
50 | chr8:2591411-2591461 | AG09309 | skin: | n/a |
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr8:2640358..2642193-chr8:2645128..2647083,3 | K562 | blood: | |
2 | chr8:2586489..2588767-chr8:2645742..2647467,2 | K562 | blood: | |
3 | chr8:2586489..2588767-chr8:2645742..2647467,2 | K562 | blood: | |
4 | chr8:2620299..2623099-chr8:2627454..2628985,2 | K562 | blood: | |
5 | chr8:2308369..2308915-chr8:2671740..2672327,2 | MCF-7 | breast: | |
6 | chr8:2629126..2630939-chr8:2635641..2638052,2 | K562 | blood: | |
7 | chr8:2563425..2566170-chr8:2680096..2682261,2 | K562 | blood: | |
8 | chr8:2597895..2600148-chr8:2611111..2612738,2 | K562 | blood: | |
9 | chr8:2578577..2581342-chr8:2628973..2630949,2 | K562 | blood: | |
10 | chr8:2660909..2663235-chr8:2664296..2666445,2 | K562 | blood: | |
11 | chr8:2599331..2602317-chr8:2606711..2608405,2 | K562 | blood: | |
12 | chr8:2555193..2558064-chr8:2558370..2560198,2 | K562 | blood: | |
13 | chr8:2631918..2634126-chr8:2639992..2641827,2 | K562 | blood: | |
14 | chr8:2631918..2634126-chr8:2639188..2641827,3 | K562 | blood: | |
15 | chr8:2620299..2623099-chr8:2627454..2628985,2 | K562 | blood: | |
16 | chr8:2523638..2525296-chr8:2550223..2552955,2 | K562 | blood: | |
17 | chr8:2588672..2591604-chr8:2606736..2608704,2 | K562 | blood: | |
18 | chr8:2626526..2629237-chr8:2643013..2645044,2 | K562 | blood: | |
19 | chr8:2606417..2608305-chr8:6263383..6265567,2 | K562 | blood: | |
20 | chr8:2596453..2598067-chr8:2617789..2620635,2 | K562 | blood: | |
21 | chr8:2590579..2593269-chr8:2597345..2599839,2 | K562 | blood: | |
22 | chr8:2578154..2579763-chr8:2619502..2622316,2 | K562 | blood: | |
23 | chr8:2581583..2583717-chr8:2629779..2632659,2 | K562 | blood: | |
24 | chr8:2607594..2609173-chr8:2610051..2612762,2 | K562 | blood: | |
25 | chr8:2510234..2512755-chr8:2514414..2516720,2 | K562 | blood: | |
26 | chr8:2588732..2590770-chr8:2607526..2610029,2 | K562 | blood: | |
27 | chr8:2588672..2591604-chr8:2606736..2608704,2 | K562 | blood: | |
28 | chr8:2647477..2649422-chr8:2653897..2655519,2 | K562 | blood: | |
29 | chr8:2591282..2593372-chr8:2644947..2647194,2 | K562 | blood: | |
30 | chr8:2660909..2663235-chr8:2664296..2666445,2 | K562 | blood: | |
31 | chr8:2646083..2648399-chr8:2651265..2652785,2 | K562 | blood: | |
32 | chr8:2630755..2632834-chr8:2650652..2652206,2 | K562 | blood: | |
33 | chr8:2523638..2525296-chr8:2550223..2552955,2 | K562 | blood: | |
34 | chr8:2590579..2593269-chr8:2597345..2599839,2 | K562 | blood: | |
35 | chr8:2576472..2578839-chr8:2602489..2604209,2 | K562 | blood: | |
36 | chr8:2544394..2547275-chr8:2569215..2571257,2 | K562 | blood: | |
37 | chr8:2578577..2581342-chr8:2628973..2630949,2 | K562 | blood: | |
38 | chr8:2562242..2563775-chr8:2567486..2569900,2 | K562 | blood: | |
39 | chr8:2547306..2548966-chr8:2550083..2551801,2 | K562 | blood: | |
40 | chr8:2584178..2586642-chr8:2609654..2611417,2 | K562 | blood: | |
41 | chr8:2588918..2591630-chr8:2632391..2633990,2 | K562 | blood: | |
42 | chr8:2592045..2593873-chr8:2639139..2641093,2 | K562 | blood: | |
43 | chr8:2547282..2550565-chr8:2554258..2557682,4 | K562 | blood: | |
44 | chr8:2607225..2609833-chr8:2620743..2622482,2 | K562 | blood: | |
45 | chr8:2510133..2511734-chr8:2513835..2516720,2 | K562 | blood: | |
46 | chr8:2569834..2572343-chr8:2683951..2686234,2 | K562 | blood: | |
47 | chr8:2607594..2609173-chr8:2610051..2612762,2 | K562 | blood: | |
48 | chr8:2613070..2615435-chr8:2618441..2620746,3 | K562 | blood: | |
49 | chr8:2621028..2623848-chr8:2627969..2631873,3 | K562 | blood: | |
50 | chr8:2547466..2548999-chr8:2550083..2552313,2 | K562 | blood: |
(count:39 , 50 per page) page:
1
No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-CSMD1-1 | chr8:2532238-2532353 | ENSG00000254319 |
2 | lnc-CSMD1-12 | chr8:2573277-2573364 | ucscGeneNc_uc003wqb_1 |
3 | lnc-CSMD1-1 | chr8:2527293-2527521 | ENSG00000254319 |
4 | lnc-CSMD1-12 | chr8:2550153-2550224 | ucscGeneNc_uc003wqb_1 |
5 | lnc-MYOM2-4 | chr8:2662104-2662227 | ENSG00000253853 |
6 | lnc-MYOM2-12 | chr8:2692294-2692594 | NONHSAT124738 |
7 | lnc-MYOM2-12 | chr8:2694306-2694604 | NONHSAT124738 |
8 | lnc-MYOM2-12 | chr8:2691861-2692100 | NONHSAT124738 |
9 | lnc-CSMD1-1 | chr8:2558974-2559395 | ENSG00000254319 |
10 | lnc-CSMD1-1 | chr8:2562746-2562817 | ENSG00000254319 |
11 | lnc-CSMD1-1 | chr8:2523591-2523700 | ENSG00000254319 |
12 | lnc-MYOM2-4 | chr8:2665889-2665956 | ENSG00000253853 |
13 | lnc-CSMD1-1 | chr8:2527314-2527521 | ENSG00000254319 |
14 | lnc-CSMD1-1 | chr8:2585870-2585957 | ENSG00000254319 |
15 | lnc-CSMD1-1 | chr8:2554056-2554472 | XLOC_006980 |
16 | lnc-MYOM2-4 | chr8:2584858-2585033 | ENSG00000253853 |
17 | lnc-CSMD1-1 | chr8:2562746-2562851 | XLOC_006980 |
18 | lnc-CSMD1-1 | chr8:2585870-2585991 | ENSG00000254319 |
19 | lnc-CSMD1-1 | chr8:2532111-2532353 | XLOC_006980 |
20 | lnc-MYOM2-4 | chr8:2679916-2680004 | ENSG00000253853 |
21 | lnc-CSMD1-1 | chr8:2532238-2532353 | ENSG00000254319 |
22 | lnc-MYOM2-4 | chr8:2662104-2662202 | XLOC_006690 |
23 | lnc-MYOM2-4 | chr8:2584690-2585033 | XLOC_006690 |
24 | lnc-CSMD1-1 | chr8:2579024-2579126 | ENSG00000254319 |
25 | lnc-CSMD1-1 | chr8:2554297-2554472 | XLOC_006980 |
26 | lnc-CSMD1-1 | chr8:2562746-2562817 | ENSG00000254319 |
27 | lnc-MYOM2-11 | chr8:2670856-2671431 | NONHSAT124737 |
28 | lnc-MYOM2-10 | chr8:2533633-2534528 | NONHSAT124732 |
29 | lnc-CSMD1-12 | chr8:2541463-2541879 | ucscGeneNc_uc003wqb_1 |
30 | lnc-CSMD1-1 | chr8:2536358-2536440 | ENSG00000254319 |
31 | lnc-CSMD1-1 | chr8:2562746-2562817 | ENSG00000254319 |
32 | lnc-CSMD1-1 | chr8:2585870-2585959 | ENSG00000254319 |
33 | lnc-CSMD1-1 | chr8:2585870-2585957 | XLOC_006980 |
34 | lnc-CSMD1-1 | chr8:2527341-2527521 | ENSG00000254319 |
35 | lnc-CSMD1-1 | chr8:2585870-2585959 | ENSG00000254319 |
36 | lnc-CSMD1-1 | chr8:2562746-2562817 | XLOC_006980 |
37 | lnc-MYOM2-4 | chr8:2676789-2676941 | ENSG00000253853 |
38 | lnc-CSMD1-1 | chr8:2562746-2562808 | XLOC_006980 |
39 | lnc-CSMD1-1 | chr8:2532238-2532353 | ENSG00000254319 |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000254319 | TF binding region |
ENSG00000253853 | TF binding region |
ENSG00000254319 | CpG island |
ENSG00000253853 | CpG island |
ENSG00000249694 | chromatin interactions |
ENSG00000246089 | chromatin interactions |
ENSG00000147316 | chromatin interactions |
ENSG00000254319 | chromatin interactions |
ENSG00000253853 | chromatin interactions |
SFRS2IP | miRNA target sites |
BCL11A | miRNA target sites |
TXNDC16 | miRNA target sites |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs4876024 | chr8:2511536-2511537 | Enhancers Active TSS Flanking Active TSS | n/a | n/a | Overlapped CNVs | mRNA abundance |
2 | rs138999686 | chr8:2511596-2511597 | Enhancers Active TSS Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
3 | rs533234868 | chr8:2511626-2511627 | Enhancers Active TSS Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
4 | rs546404681 | chr8:2511640-2511641 | Enhancers Active TSS Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
5 | rs142669161 | chr8:2511666-2511667 | Enhancers Active TSS Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
6 | rs548965504 | chr8:2511720-2511721 | Enhancers Active TSS Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
7 | rs112917668 | chr8:2511754-2511755 | Enhancers Active TSS Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
8 | rs146044519 | chr8:2511788-2511789 | Enhancers Active TSS Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
9 | rs557713766 | chr8:2511845-2511846 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
10 | rs565811881 | chr8:2511847-2511848 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
11 | rs577847438 | chr8:2511861-2511862 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
12 | rs533841485 | chr8:2511883-2511884 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
13 | rs553627623 | chr8:2511894-2511895 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
14 | rs13255504 | chr8:2511910-2511911 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
15 | rs73488619 | chr8:2511949-2511950 | Enhancers Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
16 | rs555831646 | chr8:2511967-2511968 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
17 | rs377596654 | chr8:2512007-2512008 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
18 | rs554437188 | chr8:2512010-2512011 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
19 | rs531408295 | chr8:2512030-2512031 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
20 | rs73175153 | chr8:2512034-2512035 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
21 | rs533272272 | chr8:2512098-2512099 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
22 | rs6988168 | chr8:2512140-2512141 | Enhancers Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
23 | rs538224098 | chr8:2512142-2512143 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
24 | rs185450951 | chr8:2512166-2512167 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
25 | rs80171597 | chr8:2512170-2512171 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
26 | rs549158046 | chr8:2512179-2512180 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
27 | rs187886953 | chr8:2512186-2512187 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
28 | rs531617471 | chr8:2512187-2512188 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
29 | rs551414535 | chr8:2512222-2512223 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
30 | rs557262328 | chr8:2512242-2512243 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
31 | rs533879748 | chr8:2512251-2512252 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
32 | rs576823013 | chr8:2512255-2512256 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
33 | rs553864514 | chr8:2512266-2512267 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
34 | rs369937300 | chr8:2512279-2512280 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
35 | rs545821930 | chr8:2512294-2512295 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
36 | rs192174598 | chr8:2512303-2512304 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
37 | rs7001726 | chr8:2512315-2512316 | Enhancers Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
38 | rs184136970 | chr8:2512349-2512350 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
39 | rs555910997 | chr8:2512357-2512358 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
40 | rs575861089 | chr8:2512360-2512361 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
41 | rs76171289 | chr8:2512378-2512379 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
42 | rs73657482 | chr8:2512382-2512383 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
43 | rs577574875 | chr8:2512385-2512386 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
44 | rs73488622 | chr8:2512411-2512412 | Enhancers Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
45 | rs75711704 | chr8:2512427-2512428 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
46 | rs113823903 | chr8:2512453-2512454 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
47 | rs374657562 | chr8:2512457-2512458 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
48 | rs10654010 | chr8:2512465-2512466 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
49 | rs10651609 | chr8:2512466-2512467 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
50 | rs542492705 | chr8:2512521-2512522 | Enhancers 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 |
Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
Schizophrenia | 23813976 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr8:2510800-2511800 | Flanking Active TSS | GM12878-XiMat | blood |
2 | chr8:2511200-2512000 | Enhancers | Primary B cells from peripheral blood | blood |
3 | chr8:2511200-2512800 | Enhancers | Fetal Muscle Leg | muscle |
4 | chr8:2511200-2513000 | Enhancers | Primary B cells from cord blood | blood |
5 | chr8:2511400-2512000 | Active TSS | Fetal Kidney | kidney |
6 | chr8:2511800-2512800 | Active TSS | GM12878-XiMat | blood |
7 | chr8:2512000-2512600 | Enhancers | Fetal Kidney | kidney |
8 | chr8:2512200-2512600 | Enhancers | Osteobl | bone |
9 | chr8:2512200-2512800 | Enhancers | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
10 | chr8:2512200-2512800 | Enhancers | HUES64 Cell Line | embryonic stem cell |
11 | chr8:2512200-2512800 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
12 | chr8:2512200-2512800 | Enhancers | Cortex derived primary cultured neurospheres | brain |
13 | chr8:2512200-2512800 | Enhancers | K562 | blood |
14 | chr8:2512400-2512800 | Enhancers | H1 Cell Line | embryonic stem cell |
15 | chr8:2512400-2512800 | Enhancers | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
16 | chr8:2512400-2512800 | Enhancers | H9 Cell Line | embryonic stem cell |
17 | chr8:2512400-2512800 | Enhancers | HUES6 Cell Line | embryonic stem cell |
18 | chr8:2512400-2512800 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
19 | chr8:2512600-2512800 | Enhancers | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
20 | chr8:2512600-2512800 | Flanking Active TSS | Fetal Kidney | kidney |
21 | chr8:2512800-2513000 | Enhancers | Fetal Kidney | kidney |
22 | chr8:2513000-2514800 | Weak transcription | Fetal Kidney | kidney |
23 | chr8:2514800-2516200 | Enhancers | Fetal Kidney | kidney |
24 | chr8:2522000-2527000 | Weak transcription | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
25 | chr8:2522800-2523000 | Enhancers | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
26 | chr8:2524600-2526200 | Weak transcription | Fetal Stomach | stomach |
27 | chr8:2525400-2525600 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
28 | chr8:2525800-2526000 | Enhancers | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
29 | chr8:2526000-2526800 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
30 | chr8:2526200-2527400 | Strong transcription | Fetal Stomach | stomach |
31 | chr8:2526600-2527400 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
32 | chr8:2526800-2527400 | Enhancers | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
33 | chr8:2527000-2527600 | Strong transcription | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
34 | chr8:2527200-2527600 | Enhancers | Esophagus | oesophagus |
35 | chr8:2527400-2527600 | Bivalent Enhancer | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
36 | chr8:2527400-2534800 | Weak transcription | Fetal Stomach | stomach |
37 | chr8:2527600-2529200 | Weak transcription | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
38 | chr8:2530400-2531200 | Enhancers | Foreskin Keratinocyte Primary Cells skin02 | Skin |
39 | chr8:2531200-2533800 | Weak transcription | Foreskin Keratinocyte Primary Cells skin02 | Skin |
40 | chr8:2531800-2532400 | Enhancers | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
41 | chr8:2531800-2532600 | Enhancers | Esophagus | oesophagus |
42 | chr8:2532400-2534000 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
43 | chr8:2532600-2533800 | Weak transcription | Esophagus | oesophagus |
44 | chr8:2533800-2534400 | Enhancers | Esophagus | oesophagus |
45 | chr8:2533800-2535200 | Enhancers | Placenta Amnion | Placenta Amnion |
46 | chr8:2533800-2535400 | Enhancers | Foreskin Keratinocyte Primary Cells skin02 | Skin |
47 | chr8:2533800-2535400 | Enhancers | Foreskin Keratinocyte Primary Cells skin03 | Skin |
48 | chr8:2533800-2535400 | Enhancers | NHEK | skin |
49 | chr8:2533800-2535400 | Enhancers | Osteobl | bone |
50 | chr8:2534000-2534400 | Enhancers | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |