Variant report
Variant | nsv535141 |
---|---|
Chromosome Location | chr1:146893791-146930319 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:75)
- CpG islands (count:61)
- Chromatin interactive region (count:24)
- LncRNA region (count:0)
- 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 | ATF1 | chr1:146908268-146908309 | K562 | blood: | n/a | n/a |
2 | CTCF | chr1:146906555-146906565 | GM20000 | blood: | n/a | n/a |
3 | CTCF | chr1:146901100-146901180 | Fibrobl | skin: | n/a | n/a |
4 | CTCF | chr1:146906185-146906243 | GM20000 | blood: | n/a | n/a |
5 | E2F4 | chr1:146911020-146911148 | MCF10A-Er-Src | breast: | n/a | n/a |
6 | E2F4 | chr1:146930294-146930504 | MCF10A-Er-Src | breast: | n/a | n/a |
7 | EBF1 | chr1:146906688-146907086 | GM12878 | blood: | n/a | chr1:146906892-146906903 chr1:146906894-146906903 |
8 | FOS | chr1:146923260-146923413 | MCF10A-Er-Src | breast: | n/a | n/a |
9 | FOS | chr1:146910831-146911013 | MCF10A-Er-Src | breast: | n/a | n/a |
10 | FOSL2 | chr1:146895259-146895471 | HepG2 | liver: | n/a | n/a |
11 | FOXA1 | chr1:146895307-146895480 | T-47D | breast: | n/a | n/a |
12 | FOXA1 | chr1:146895084-146895502 | HepG2 | liver: | n/a | n/a |
13 | FOXA2 | chr1:146895137-146895586 | A549 | lung: | n/a | n/a |
14 | FOXA2 | chr1:146895183-146895531 | A549 | lung: | n/a | n/a |
15 | GATA3 | chr1:146923069-146923341 | SH-SY5Y | brain: | n/a | n/a |
16 | GTF2F1 | chr1:146894767-146894897 | K562 | blood: | n/a | n/a |
17 | HEY1 | chr1:146895190-146895465 | K562 | blood: | n/a | n/a |
18 | HEY1 | chr1:146894808-146895099 | K562 | blood: | n/a | n/a |
19 | HEY1 | chr1:146895142-146895447 | K562 | blood: | n/a | n/a |
20 | MAFK | chr1:146905324-146905564 | HepG2 | liver: | n/a | chr1:146905398-146905409 chr1:146905397-146905408 |
21 | MAFK | chr1:146922418-146922618 | H1-hESC | embryonic stem cell: | n/a | n/a |
22 | MAX | chr1:146894816-146895022 | MCF-7 | breast: | n/a | n/a |
23 | MYC | chr1:146927013-146927121 | H1-hESC | embryonic stem cell: | n/a | n/a |
24 | POLR2A | chr1:146904319-146904415 | MCF10A-Er-Src | breast: | n/a | n/a |
25 | POLR2A | chr1:146910151-146910234 | H1-hESC | embryonic stem cell: | n/a | n/a |
26 | POLR2A | chr1:146894797-146894999 | K562 | blood: | n/a | n/a |
27 | POLR2A | chr1:146895183-146895484 | H1-hESC | embryonic stem cell: | n/a | n/a |
28 | POLR2A | chr1:146929044-146929095 | MCF-7 | breast: | n/a | n/a |
29 | POLR2A | chr1:146926991-146927096 | MCF-7 | breast: | n/a | n/a |
30 | POLR2A | chr1:146910242-146910356 | ProgFib | skin: | n/a | n/a |
31 | POLR2A | chr1:146902135-146902292 | MCF10A-Er-Src | breast: | n/a | n/a |
32 | POLR2A | chr1:146895184-146895456 | H1-hESC | embryonic stem cell: | n/a | n/a |
33 | POLR2A | chr1:146929045-146929358 | MCF-7 | breast: | n/a | n/a |
34 | POLR2A | chr1:146894943-146895610 | H1-hESC | embryonic stem cell: | n/a | n/a |
35 | POLR2A | chr1:146895181-146895450 | H1-hESC | embryonic stem cell: | n/a | n/a |
36 | REST | chr1:146923306-146923785 | HL-60 | blood: | n/a | n/a |
37 | REST | chr1:146923404-146923699 | K562 | blood: | n/a | n/a |
38 | REST | chr1:146923435-146923599 | K562 | blood: | n/a | n/a |
39 | REST | chr1:146923462-146923593 | GM12878 | blood: | n/a | n/a |
40 | REST | chr1:146923476-146923591 | HepG2 | liver: | n/a | n/a |
41 | REST | chr1:146923325-146923805 | ECC-1 | luminal epithelium: | n/a | n/a |
42 | REST | chr1:146923272-146924035 | MCF-7 | breast: | n/a | n/a |
43 | REST | chr1:146923314-146923819 | MCF-7 | breast: | n/a | n/a |
44 | REST | chr1:146923440-146923683 | H1-hESC | embryonic stem cell: | n/a | n/a |
45 | REST | chr1:146923411-146923722 | GM12878 | blood: | n/a | n/a |
46 | REST | chr1:146923445-146923758 | ECC-1 | luminal epithelium: | n/a | n/a |
47 | REST | chr1:146923433-146923629 | HepG2 | liver: | n/a | n/a |
48 | REST | chr1:146923430-146923690 | Hela-S3 | cervix: | n/a | n/a |
49 | REST | chr1:146923336-146923695 | Hela-S3 | cervix: | n/a | n/a |
50 | REST | chr1:146923456-146923641 | GM12878 | blood: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr1:146895247-146895297 | GM12891 | blood: | n/a |
2 | chr1:146895247-146895297 | HEK293 | kidney: | embryo |
3 | chr1:146895247-146895297 | NHDF-neo | bronchial: | n/a |
4 | chr1:146895247-146895297 | ovcar-3 | ovarian: | n/a |
5 | chr1:146895247-146895297 | HIPEpiC | eye: | n/a |
6 | chr1:146895247-146895297 | HMEC | breast: | n/a |
7 | chr1:146895247-146895297 | PrEC | prostate: | n/a |
8 | chr1:146895247-146895297 | HCT-116 | colon: | n/a |
9 | chr1:146895247-146895297 | SK-N-SH_RA | brain: | n/a |
10 | chr1:146895247-146895297 | LNCaP | prostate: | n/a |
11 | chr1:146895247-146895297 | GM12878 | blood: | n/a |
12 | chr1:146895247-146895297 | NT2-D1 | testis: | n/a |
13 | chr1:146895247-146895297 | Hepatocyte | liver: | n/a |
14 | chr1:146895247-146895297 | AG04450 | lung: | fetal |
15 | chr1:146895247-146895297 | HPAEpiC | pulmonary alveolar: | n/a |
16 | chr1:146895247-146895297 | K562 | blood: | n/a |
17 | chr1:146895247-146895297 | A549 | lung: | n/a |
18 | chr1:146895247-146895297 | HCM | heart: | n/a |
19 | chr1:146895247-146895297 | NH-A | brain: | n/a |
20 | chr1:146895247-146895297 | HCPEpiC | choroid plexus: | n/a |
21 | chr1:146895247-146895297 | HEEpiC | esophagus: | n/a |
22 | chr1:146895247-146895297 | BJ | skin: | n/a |
23 | chr1:146895247-146895297 | ECC-1 | luminal epithelium: | n/a |
24 | chr1:146895247-146895297 | AG09319 | gingival: | n/a |
25 | chr1:146895247-146895297 | RPTEC | kidney: | n/a |
26 | chr1:146895247-146895297 | MCF10A-Er-Src | breast: | n/a |
27 | chr1:146895247-146895297 | SAEC | small airway: | n/a |
28 | chr1:146895247-146895297 | BE2_C | brain: | n/a |
29 | chr1:146895247-146895297 | NHBE | bronchial: | n/a |
30 | chr1:146895247-146895297 | HRE | kidney: | n/a |
31 | chr1:146895247-146895297 | H1-hESC | embryonic stem cell: | embryo |
32 | chr1:146895247-146895297 | U87 | brain: | n/a |
33 | chr1:146895247-146895297 | GM12892 | blood: | n/a |
34 | chr1:146895247-146895297 | ProgFib | skin: | n/a |
35 | chr1:146895247-146895297 | HepG2 | liver: | n/a |
36 | chr1:146895247-146895297 | T-47D | breast: | n/a |
37 | chr1:146895247-146895297 | Hela-S3 | cervix: | n/a |
38 | chr1:146895247-146895297 | CMK | blood: | n/a |
39 | chr1:146895247-146895297 | SK-N-SH | brain: | n/a |
40 | chr1:146895247-146895297 | PANC-1 | pancreas: | n/a |
41 | chr1:146895247-146895297 | IMR90 | lung: | fetal |
42 | chr1:146895247-146895297 | HNPCEpiC | eye: | n/a |
43 | chr1:146895247-146895297 | SK-N-MC | brain: | n/a |
44 | chr1:146895247-146895297 | MCF-7 | breast: | n/a |
45 | chr1:146895247-146895297 | HRCEpiC | kidney: | n/a |
46 | chr1:146895247-146895297 | AG09309 | skin: | n/a |
47 | chr1:146895247-146895297 | NB4 | blood: | n/a |
48 | chr1:146895247-146895297 | AG04449 | skin: | fetal |
49 | chr1:146895247-146895297 | HL-60 | blood: | n/a |
50 | chr1:146895247-146895297 | HUVEC | blood vessel: | n/a |
(count:24 , 50 per page) page:
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr1:146892606..146894867-chr1:146909100..146911293,2 | MCF-7 | breast: | |
2 | chr1:146907560..146910519-chr1:146910936..146913596,2 | K562 | blood: | |
3 | chr1:146924006..146926238-chr1:146927310..146929768,2 | K562 | blood: | |
4 | chr1:146892606..146894867-chr1:146909100..146911293,2 | MCF-7 | breast: | |
5 | chr1:146904930..146907237-chr1:146910258..146912746,2 | MCF-7 | breast: | |
6 | chr1:146899574..146902487-chr1:146902750..146904367,2 | K562 | blood: | |
7 | chr1:146907560..146910519-chr1:146910936..146913596,2 | K562 | blood: | |
8 | chr1:146902569..146904865-chr1:146917610..146920209,2 | MCF-7 | breast: | |
9 | chr1:146902569..146904865-chr1:146917610..146920209,2 | MCF-7 | breast: | |
10 | chr1:146892685..146894306-chr1:146902333..146904733,2 | K562 | blood: | |
11 | chr1:146904036..146904863-chr6:92344357..92345281,2 | MCF-7 | breast: | |
12 | chr1:146924006..146926238-chr1:146927310..146929768,2 | K562 | blood: | |
13 | chr1:146902129..146904025-chr1:146907523..146909259,2 | MCF-7 | breast: | |
14 | chr1:146889760..146891342-chr1:146892775..146894723,2 | K562 | blood: | |
15 | chr1:146919316..146922658-chr1:146922805..146926781,4 | MCF-7 | breast: | |
16 | chr1:146892685..146894306-chr1:146902333..146904733,2 | K562 | blood: | |
17 | chr1:146902129..146904025-chr1:146907523..146909259,2 | MCF-7 | breast: | |
18 | chr1:146899574..146902487-chr1:146902750..146904367,2 | K562 | blood: | |
19 | chr1:146903700..146906235-chr1:146908558..146911092,2 | MCF-7 | breast: | |
20 | chr1:146919316..146922658-chr1:146922805..146926781,4 | MCF-7 | breast: | |
21 | chr1:146900267..146901994-chr1:146917876..146920490,2 | MCF-7 | breast: | |
22 | chr1:146900267..146901994-chr1:146917876..146920490,2 | MCF-7 | breast: | |
23 | chr1:146903700..146906235-chr1:146908558..146911092,2 | MCF-7 | breast: | |
24 | chr1:146904930..146907237-chr1:146910258..146912746,2 | MCF-7 | breast: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
OR13Z2P | TF binding region |
ENSG00000207209 | TF binding region |
OR13Z2P | CpG island |
ENSG00000207209 | CpG island |
ENSG00000226653 | chromatin interactions |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs587683740 | chr1:146893850-146893851 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
2 | rs12084073 | chr1:146893860-146893861 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
3 | rs587638433 | chr1:146893869-146893870 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
4 | rs587693143 | chr1:146893875-146893876 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
5 | rs189913659 | chr1:146893876-146893877 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
6 | rs587674958 | chr1:146893900-146893901 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
7 | rs587731931 | chr1:146893906-146893907 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
8 | rs587775299 | chr1:146893918-146893919 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
9 | rs587664482 | chr1:146893922-146893923 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
10 | rs587723041 | chr1:146893967-146893968 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
11 | rs182507673 | chr1:146894006-146894007 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
12 | rs587678314 | chr1:146894013-146894014 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
13 | rs587709943 | chr1:146894036-146894037 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
14 | rs587595054 | chr1:146894045-146894046 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
15 | rs587673270 | chr1:146894060-146894061 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
16 | rs587728747 | chr1:146894076-146894077 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
17 | rs188531919 | chr1:146894096-146894097 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
18 | rs587655355 | chr1:146894108-146894109 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
19 | rs587743263 | chr1:146894122-146894123 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
20 | rs142295685 | chr1:146894140-146894141 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
21 | rs587698287 | chr1:146894144-146894145 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
22 | rs191766295 | chr1:146894147-146894148 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
23 | rs184018834 | chr1:146894154-146894155 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
24 | rs75941300 | chr1:146894155-146894156 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
25 | rs145891554 | chr1:146894169-146894170 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
26 | rs587666081 | chr1:146894214-146894215 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
27 | rs138305414 | chr1:146894225-146894226 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
28 | rs188951858 | chr1:146894236-146894237 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
29 | rs587628978 | chr1:146894237-146894238 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
30 | rs587715040 | chr1:146894284-146894285 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
31 | rs112400876 | chr1:146894307-146894308 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
32 | rs587673229 | chr1:146894308-146894309 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
33 | rs78220902 | chr1:146894399-146894400 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
34 | rs368932112 | chr1:146894408-146894409 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
35 | rs587607948 | chr1:146894457-146894458 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
36 | rs587662792 | chr1:146894460-146894461 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
37 | rs11240037 | chr1:146894491-146894492 | Enhancers | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
38 | rs587619564 | chr1:146894530-146894531 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
39 | rs587669791 | chr1:146894564-146894565 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
40 | rs11240038 | chr1:146894585-146894586 | Enhancers | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
41 | rs191501779 | chr1:146894592-146894593 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
42 | rs10900364 | chr1:146894633-146894634 | Enhancers Active TSS | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
43 | rs587776139 | chr1:146894657-146894658 | Enhancers Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
44 | rs587616790 | chr1:146894660-146894661 | Enhancers Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
45 | rs73004025 | chr1:146894672-146894673 | Enhancers Active TSS | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
46 | rs183649611 | chr1:146894682-146894683 | Enhancers Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
47 | rs113594913 | chr1:146894721-146894722 | Enhancers Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
48 | rs111619938 | chr1:146894727-146894728 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
49 | rs374044638 | chr1:146894732-146894733 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
50 | rs17360966 | chr1:146894821-146894822 | Active TSS Flanking Active TSS | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
Disease | PMID | Source |
---|---|---|
Breast cancer | 17603634 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
HIV/AIDS | 22032296 | CNVD |
Schizophrenia | 19415332 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Autism | 22495311 | CNVD |
Cancer | 21129771 | CNVD |
Non-small cell lung cancer | 21385341 | CNVD |
Autosomal dominant nocturnal frontal lobe epilepsy | 18472482 | CNVD |
Hirschsprung''s Disease | 21712996 | CNVD |
Non-small cell lung cancer | 20864512 | CNVD |
Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
Thrombocytopenia-absent radius syndrome | 21933853 | CNVD |
Psychiatric disorder | 22848183 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Liposarcoma | 21253554 | CNVD |
Diffuse large b-cell lymphoma | 18287131 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Burkitt''s lymphoma | 18698080 | CNVD |
Melanoma | 18172304 | CNVD |
Breast cancer | 20409316 | CNVD |
Splenic marginal zone lymphoma | 21957467 | CNVD |
Breast cancer | 17393978 | CNVD |
Cervical cancer | 21062161 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Cancer | 21183584 | CNVD |
Multiple myeloma | 16461302 | CNVD |
Lung cancer | 18438408 | CNVD |
Rett syndrome | 21593744 | CNVD |
Intellectual disability | 22102821 | CNVD |
Cancer | 20164919 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Systemic lupus erythematosus | 21956041 | CNVD |
Acute lymphoblastic leukemia | 17443227 | CNVD |
Wilms tumour | 21544195 | CNVD |
Breast cancer | 17133270 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Esophageal squamous carcinoma | 18350619 | CNVD |
Non-small cell lung cancer | 21829676 | CNVD |
Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
Non-small cell lung cancer | 21044232 | CNVD |
Cervical cancer | 21063398 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Astrocytoma | 17387387 | CNVD |
Breast cancer | 20632083 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Gastrointestinal stromal cancer | 20470368 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Medulloblastoma | 21292688 | CNVD |
Phyllodes tumor | 17334353 | CNVD |
Breast cancer | 21264507 | CNVD |
Multiple myeloma | 21628407 | CNVD |
Cancer | 16751803 | CNVD |
Prostate cancer | 16705090 | CNVD |
Neuroblastoma | 19435921 | CNVD |
Breast cancer | 17850661 | CNVD |
Breast cancer | 16461572 | CNVD |
Intracranial tumor | 16823260 | CNVD |
Medulloblastoma | 18056178 | CNVD |
Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Acute lymphoblastic leukemia | 21098271 | CNVD |
Neuroblastoma | 21899760 | CNVD |
Breast cancer | 17899364 | CNVD |
Bladder cancer | 19088036 | CNVD |
Ovarian neoplasms | 16753589 | CNVD |
Glioblastoma multiforme | 17002787 | CNVD |
Breast cancer | 21858162 | CNVD |
Breast cancer | 21611746 | CNVD |
Retinoblastoma | 19183342 | CNVD |
Breast cancer | 21990379 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Schizophrenia | 22499536 | CNVD |
Schizophrenia | 18923514 | CNVD |
Neuroblastoma | 21124317 | CNVD |
Autism | 20970697 | CNVD |
Bipolar disorder | 19114987 | CNVD |
Epilepsy | 20970697 | CNVD |
Schizophrenia | 22118685 | CNVD |
Schizophrenia | 20587603 | CNVD |
Schizophrenia | 21285140 | CNVD |
Schizophrenia | 20553308 | CNVD |
Schizophrenia | 21956041 | CNVD |
Schizophrenia | 20970697 | CNVD |
Addison''s disease | 21851588 | CNVD |
Heart disease | 22199024 | CNVD |
Mental retardation | 19951919 | CNVD |
Ovarian cancer | 20844748 | CNVD |
Schizophrenia | 21399695 | CNVD |
Prostate cancer | 17217626 | CNVD |
Congenital heart defect | 22199024 | CNVD |
TAR Syndrome | 17847015 | CNVD |
Thrombocytopenia-absent radius syndrome | 17236129 | CNVD |
Autism | 18784092 | CNVD |
Congenital abnormalities | 18784092 | CNVD |
Mental retardation | 18784092 | CNVD |
Schizophrenia | 19855392 | CNVD |
Ovarian cancer | 22174824 | CNVD |
Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
Acute lymphoblastic leukemia | 21980252 | CNVD |
Breast cancer | 16608533 | CNVD |
Ewing''s sarcoma | 22429812 | CNVD |
Acute promyelocytic leukemia | 19109227 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Autism | 19521722 | CNVD |
Mental retardation | 19521722 | CNVD |
Schizophrenia | 19521646 | CNVD |
Neuroblastoma | 19536264 | CNVD |
Epilepsy | 20923578 | CNVD |
Mental retardation | 17124404 | CNVD |
Schizophrenia | 19348701 | CNVD |
Schizophrenia | 18668039 | CNVD |
Schizophrenia | 19443537 | CNVD |
Schizophrenia | 19571808 | CNVD |
Velocardiofacial syndrome | 19329560 | CNVD |
Autism | 19955444 | CNVD |
Autism | 20964600 | CNVD |
Schizophrenia | 19955444 | CNVD |
Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
Gastrointestinal stromal cancer | 19259404 | CNVD |
Colorectal cancer | 20459617 | CNVD |
Osteosarcoma | 19286668 | CNVD |
Osteosarcoma | 17242211 | CNVD |
Ovarian cancer | 17242211 | CNVD |
Ovine squamous-cell carcinoma | 17599052 | CNVD |
Schizophrenia | 18990708 | CNVD |
Sudden cardiac death | 19188705 | CNVD |
Plasma-cell dyscrasia | 16705089 | CNVD |
Myeloma | 17024118 | CNVD |
Cancer | 17060936 | CNVD |
Multiple myeloma | 16616336 | CNVD |
Type 2 diabetes | 19141583 | CNVD |
Chordoma | 18071362 | CNVD |
Hepatocellular carcinoma | 18803288 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Breast cancer | 17001317 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Burkitt''s lymphoma | 19759907 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
Multiple myeloma | 17550852 | CNVD |
Prostate cancer | 18632612 | CNVD |
Follicular lymphoma | 18703704 | CNVD |
Lung adenocarcinoma | 17982442 | CNVD |
Breast cancer | 21509527 | CNVD |
Tetralogy of Fallot | 22912587 | CNVD |
Bladder cancer | 21909424 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Anaplastic thyroid cancer | 18753363 | CNVD |
Lung squamous cell carcinoma | 20842114 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Schizophrenia | 20967226 | CNVD |
Breast cancer | 22522925 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr1:146894000-146894600 | Enhancers | K562 | blood |
2 | chr1:146894600-146894800 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
3 | chr1:146894600-146894800 | Active TSS | K562 | blood |
4 | chr1:146894800-146895000 | Flanking Active TSS | K562 | blood |
5 | chr1:146894800-146895400 | Active TSS | ES-I3 Cell Line | embryonic stem cell |
6 | chr1:146895000-146895400 | Active TSS | HUES6 Cell Line | embryonic stem cell |
7 | chr1:146895000-146895400 | Active TSS | Rectal Mucosa Donor 31 | rectum |
8 | chr1:146910000-146910600 | Enhancers | Foreskin Keratinocyte Primary Cells skin02 | Skin |
9 | chr1:146918800-146919000 | Enhancers | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
10 | chr1:146924400-146925000 | Enhancers | Pancreatic Islets | Pancreatic Islet |