Variant report
Variant | nsv962269 |
---|---|
Chromosome Location | chr17:16662779-16708829 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:70)
- CpG islands (count:245)
- Chromatin interactive region (count:0)
- LncRNA region (count:6)
- Mature miRNA region (count: 0)
- miRNA target sites (count:2)
No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | CEBPB | chr17:16663042-16663112 | K562 | blood: | n/a | chr17:16663087-16663100 chr17:16663087-16663100 chr17:16663087-16663098 chr17:16663087-16663100 chr17:16663089-16663098 |
2 | CEBPB | chr17:16676545-16676704 | Hela-S3 | cervix: | n/a | n/a |
3 | CEBPB | chr17:16663012-16663205 | IMR90 | lung: | n/a | chr17:16663087-16663100 chr17:16663087-16663100 chr17:16663087-16663098 chr17:16663087-16663100 chr17:16663089-16663098 |
4 | CEBPB | chr17:16663026-16663220 | A549 | lung: | n/a | chr17:16663087-16663100 chr17:16663087-16663100 chr17:16663087-16663098 chr17:16663087-16663100 chr17:16663089-16663098 |
5 | CTCF | chr17:16693534-16693984 | A549 | lung: | n/a | chr17:16693765-16693786 chr17:16693771-16693787 |
6 | CTCF | chr17:16693733-16693826 | GM20000 | blood: | n/a | chr17:16693765-16693786 chr17:16693771-16693787 |
7 | CTCF | chr17:16693711-16693841 | GM10248 | blood: | n/a | chr17:16693765-16693786 chr17:16693771-16693787 |
8 | CTCF | chr17:16693590-16693959 | A549 | lung: | n/a | chr17:16693765-16693786 chr17:16693771-16693787 |
9 | CTCF | chr17:16668570-16668607 | Kidney_OC | kidney: | n/a | n/a |
10 | CTCF | chr17:16693582-16693901 | A549 | lung: | n/a | chr17:16693765-16693786 chr17:16693771-16693787 |
11 | CTCF | chr17:16693742-16693846 | GM10266 | blood: | n/a | chr17:16693765-16693786 chr17:16693771-16693787 |
12 | CTCF | chr17:16693682-16693912 | Kidney_OC | kidney: | n/a | chr17:16693765-16693786 chr17:16693771-16693787 |
13 | CTCF | chr17:16693769-16693797 | Lung_OC | lung: | n/a | chr17:16693771-16693787 |
14 | CTCF | chr17:16693900-16694050 | HMEC | breast: | n/a | n/a |
15 | CTCF | chr17:16693540-16693690 | GM06990 | blood: | n/a | n/a |
16 | CTCF | chr17:16693580-16693730 | SAEC | small airway: | n/a | n/a |
17 | CTCF | chr17:16693636-16693890 | K562 | blood: | n/a | chr17:16693765-16693786 chr17:16693771-16693787 |
18 | CTCF | chr17:16693690-16693882 | Medullo | brain: | n/a | chr17:16693765-16693786 chr17:16693771-16693787 |
19 | CTCF | chr17:16693540-16693690 | Caco-2 | colon: | n/a | n/a |
20 | CTCF | chr17:16693701-16693855 | GM13977 | blood: | n/a | chr17:16693765-16693786 chr17:16693771-16693787 |
21 | CTCF | chr17:16693600-16693750 | HCM | heart: | n/a | n/a |
22 | CTCF | chr17:16693743-16693772 | HepG2 | liver: | n/a | n/a |
23 | CTCF | chr17:16693640-16693918 | K562 | blood: | n/a | chr17:16693765-16693786 chr17:16693771-16693787 |
24 | CTCF | chr17:16693613-16693949 | K562 | blood: | n/a | chr17:16693765-16693786 chr17:16693771-16693787 |
25 | CTCF | chr17:16680600-16680750 | AG09309 | skin: | n/a | n/a |
26 | CTCF | chr17:16693580-16693730 | HVMF | connective: | n/a | n/a |
27 | CTCF | chr17:16701275-16701353 | A549 | lung: | n/a | n/a |
28 | CTCF | chr17:16693736-16693844 | LNCaP | prostate: | n/a | chr17:16693765-16693786 chr17:16693771-16693787 |
29 | CTCF | chr17:16693920-16694070 | HMEC | breast: | n/a | n/a |
30 | CTCF | chr17:16693659-16693884 | Pancreas_OC | pancreas: | n/a | chr17:16693765-16693786 chr17:16693771-16693787 |
31 | CTCF | chr17:16693920-16694070 | HBMEC | blood vessel: | n/a | n/a |
32 | CTCF | chr17:16673400-16673550 | HFF-Myc | foreskin: | n/a | n/a |
33 | CTCF | chr17:16693703-16693870 | LNCaP | prostate: | n/a | chr17:16693765-16693786 chr17:16693771-16693787 |
34 | CTCF | chr17:16693860-16694010 | SAEC | small airway: | n/a | n/a |
35 | CTCF | chr17:16693608-16693964 | A549 | lung: | n/a | chr17:16693765-16693786 chr17:16693771-16693787 |
36 | CTCF | chr17:16693746-16693757 | K562 | blood: | n/a | n/a |
37 | CTCF | chr17:16693560-16693710 | HVMF | connective: | n/a | n/a |
38 | CTCF | chr17:16693666-16693776 | Gliobla | brain: | n/a | n/a |
39 | FOXA1 | chr17:16708436-16708696 | T-47D | breast: | n/a | n/a |
40 | GATA2 | chr17:16697238-16697635 | K562 | blood: | n/a | chr17:16697444-16697465 chr17:16697438-16697451 |
41 | MYC | chr17:16676675-16676735 | MCF10A-Er-Src | breast: | n/a | n/a |
42 | MYC | chr17:16697480-16697687 | K562 | blood: | n/a | chr17:16697552-16697563 chr17:16697552-16697563 chr17:16697551-16697564 chr17:16697552-16697563 chr17:16697553-16697562 chr17:16697551-16697566 chr17:16697555-16697562 |
43 | PAX5 | chr17:16695608-16695975 | GM12878 | blood: | n/a | n/a |
44 | PAX5 | chr17:16707821-16708188 | GM12878 | blood: | n/a | n/a |
45 | PAX5 | chr17:16697730-16697975 | GM12878 | blood: | n/a | n/a |
46 | POLR2A | chr17:16686906-16687044 | A549 | lung: | n/a | n/a |
47 | POLR2A | chr17:16678131-16678178 | Gliobla | brain: | n/a | n/a |
48 | POLR2A | chr17:16700730-16700855 | A549 | lung: | n/a | n/a |
49 | POLR2A | chr17:16700737-16700830 | A549 | lung: | n/a | n/a |
50 | POLR2A | chr17:16671688-16671780 | Gliobla | brain: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr17:16693633-16693683 | HRPEpiC | eye: | n/a |
2 | chr17:16693633-16693683 | HRPEpiC | eye: | n/a |
3 | chr17:16688816-16688866 | SAEC | small airway: | n/a |
4 | chr17:16690173-16690223 | K562 | blood: | n/a |
5 | chr17:16690173-16690223 | HCM | heart: | n/a |
6 | chr17:16690169-16690219 | U87 | brain: | n/a |
7 | chr17:16693633-16693683 | BJ | skin: | n/a |
8 | chr17:16693633-16693683 | MCF-7 | breast: | n/a |
9 | chr17:16690169-16690219 | RPTEC | kidney: | n/a |
10 | chr17:16690173-16690223 | A549 | lung: | n/a |
11 | chr17:16690169-16690219 | SK-N-MC | brain: | n/a |
12 | chr17:16693633-16693683 | BE2_C | brain: | n/a |
13 | chr17:16688816-16688866 | GM12892 | blood: | n/a |
14 | chr17:16688816-16688866 | CMK | blood: | n/a |
15 | chr17:16693633-16693683 | SKMC | muscle: | n/a |
16 | chr17:16688816-16688866 | HRE | kidney: | n/a |
17 | chr17:16693633-16693683 | LNCaP | prostate: | n/a |
18 | chr17:16688816-16688866 | HEEpiC | esophagus: | n/a |
19 | chr17:16688816-16688866 | HCM | heart: | n/a |
20 | chr17:16690169-16690219 | GM12891 | blood: | n/a |
21 | chr17:16693633-16693683 | HNPCEpiC | eye: | n/a |
22 | chr17:16690169-16690219 | GM12878 | blood: | n/a |
23 | chr17:16690173-16690223 | NH-A | brain: | n/a |
24 | chr17:16690169-16690219 | GM06990 | blood: | n/a |
25 | chr17:16693633-16693683 | SK-N-MC | brain: | n/a |
26 | chr17:16688816-16688866 | ProgFib | skin: | n/a |
27 | chr17:16690173-16690223 | HCT-116 | colon: | n/a |
28 | chr17:16693633-16693683 | NT2-D1 | testis: | n/a |
29 | chr17:16688816-16688866 | Hela-S3 | cervix: | n/a |
30 | chr17:16693633-16693683 | CMK | blood: | n/a |
31 | chr17:16693633-16693683 | RPTEC | kidney: | n/a |
32 | chr17:16690169-16690219 | HEK293 | kidney: | embryo |
33 | chr17:16693633-16693683 | NB4 | blood: | n/a |
34 | chr17:16690173-16690223 | HepG2 | liver: | n/a |
35 | chr17:16688816-16688866 | AG09319 | gingival: | n/a |
36 | chr17:16693633-16693683 | HL-60 | blood: | n/a |
37 | chr17:16690169-16690219 | CMK | blood: | n/a |
38 | chr17:16688816-16688866 | NH-A | brain: | n/a |
39 | chr17:16688816-16688866 | HAEpiC | amniotic membrane: | n/a |
40 | chr17:16688816-16688866 | T-47D | breast: | n/a |
41 | chr17:16693633-16693683 | AG04449 | skin: | fetal |
42 | chr17:16690169-16690219 | HCPEpiC | choroid plexus: | n/a |
43 | chr17:16690169-16690219 | MCF10A-Er-Src | breast: | n/a |
44 | chr17:16690173-16690223 | SK-N-SH_RA | brain: | n/a |
45 | chr17:16693633-16693683 | HCT-116 | colon: | n/a |
46 | chr17:16690173-16690223 | HRCEpiC | kidney: | n/a |
47 | chr17:16690169-16690219 | NB4 | blood: | n/a |
48 | chr17:16690173-16690223 | AG09309 | skin: | n/a |
49 | chr17:16690173-16690223 | AoSMC | blood vessel: | n/a |
50 | chr17:16690169-16690219 | AoSMC | blood vessel: | n/a |
No data |
(count:6 , 50 per page) page:
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-CCDC144A-1 | chr17:16707941-16707992 | ENSG00000264729.1 |
2 | lnc-CCDC144A-1 | chr17:16708772-16709021 | ENSG00000264729.1 |
3 | lnc-KRT17P1-1 | chr17:16691562-16691620 | ENSG00000264673.1 |
4 | lnc-AC104024.2.1-3 | chr17:16692057-16693815 | NONHSAT146006 |
5 | lnc-AC104024.2.1-3 | chr17:16692215-16692721 | NONHSAT146007 |
6 | lnc-KRT17P1-1 | chr17:16691922-16692548 | ENSG00000264673.1 |
No data |
(count:2 , 50 per page) page:
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No. | miRNA target gene | miRNA name | Chromosome Location | mirBase accession |
---|---|---|---|---|
1 | CCDC144A | hsa-miR-26b-5p | chr17:16677653-16677674 | |
2 | LOC162632 | hsa-miR-26b-5p | chr17:16707023-16707045 |
Variant related genes | Relation type |
---|---|
FAM106CP | TF binding region |
ENSG00000264673 | TF binding region |
USP32P1 | TF binding region |
ENSG00000272815 | TF binding region |
SRP68P1 | TF binding region |
ENSG00000264729 | TF binding region |
FAM106CP | CpG island |
ENSG00000264673 | CpG island |
USP32P1 | CpG island |
ENSG00000272815 | CpG island |
SRP68P1 | CpG island |
ENSG00000264729 | CpG island |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs567158807 | chr17:16670807-16670808 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs529917561 | chr17:16670827-16670828 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs549712383 | chr17:16670836-16670837 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs3907706 | chr17:16670853-16670854 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs568903118 | chr17:16670882-16670883 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs3907707 | chr17:16670890-16670891 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs538250040 | chr17:16670912-16670913 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs557921480 | chr17:16670921-16670922 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs7215888 | chr17:16670957-16670958 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs371701567 | chr17:16670993-16670994 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs3907708 | chr17:16671017-16671018 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs3907709 | chr17:16671029-16671030 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs549776752 | chr17:16671041-16671042 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs184700579 | chr17:16671105-16671106 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs189973770 | chr17:16671142-16671143 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs574309522 | chr17:16671183-16671184 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs543338951 | chr17:16671219-16671220 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs556935017 | chr17:16671241-16671242 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs374119492 | chr17:16671288-16671289 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs145246700 | chr17:16671374-16671375 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs564800936 | chr17:16671388-16671389 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs527364803 | chr17:16671586-16671587 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs62075073 | chr17:16671587-16671588 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs113103159 | chr17:16671589-16671590 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs180774081 | chr17:16671617-16671618 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs148291654 | chr17:16671631-16671632 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs200955928 | chr17:16671681-16671682 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs563242939 | chr17:16671715-16671716 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs531577202 | chr17:16671803-16671804 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs551764612 | chr17:16672022-16672023 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs571589618 | chr17:16672026-16672027 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs77640137 | chr17:16672087-16672088 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs183673130 | chr17:16672101-16672102 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs547960103 | chr17:16672114-16672115 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs567851846 | chr17:16672123-16672124 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs3101947 | chr17:16672125-16672126 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs536847973 | chr17:16672161-16672162 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs369945923 | chr17:16672212-16672213 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs372894705 | chr17:16672225-16672226 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs3114287 | chr17:16672331-16672332 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs150755336 | chr17:16672360-16672361 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs139096448 | chr17:16672389-16672390 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs113939896 | chr17:16672407-16672408 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
44 | rs538998173 | chr17:16672465-16672466 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
45 | rs201292043 | chr17:16672469-16672470 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
46 | rs558503153 | chr17:16672516-16672517 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
47 | rs571993181 | chr17:16672544-16672545 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
48 | rs541110935 | chr17:16672551-16672552 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
49 | rs144554386 | chr17:16672612-16672613 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs147844859 | chr17:16672625-16672626 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Chronic lymphocytic leukemia | 21546498 | CNVD |
Burkitt''s lymphoma | 19759907 | CNVD |
Wilms tumour | 21544195 | CNVD |
Esophageal adenocarcinoma | 18519675 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Acute lymphoblastic leukemia | 21390130 | CNVD |
Melanoma | 18172304 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Breast cancer | 16608533 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Chordoma | 21602918 | CNVD |
Miller-Dieker syndrome | 22283845 | CNVD |
Non-syndromic sensorineural hearing loss | 17457615 | CNVD |
Cancer | 22429812 | CNVD |
Chronic lymphocytic leukemia | 21795749 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Follicular lymphoma | 19010834 | CNVD |
Colorectal cancer | 20709793 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Paraganglioma | 21461997 | CNVD |
Pheochromocytoma | 21461997 | CNVD |
Breast cancer | 22028636 | CNVD |
Breast cancer | 20837533 | CNVD |
Astrocytoma | 17387387 | CNVD |
Breast cancer | 21264507 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Medulloblastoma | 21292688 | CNVD |
colon cancer | 17210682 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Basal cell lymphoma | 17053054 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Cancer | 16751803 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Embryonal rhabdomyosarcoma | 16790082 | CNVD |
Chronic lymphocytic leukemia | 17971485 | CNVD |
Basal cell lymphoma | 17170743 | CNVD |
Breast cancer | 16461572 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Follicular lymphoma | 17170743 | CNVD |
Human rectal carcinomas | 16397240 | CNVD |
Oral squamous cell carcinoma | 17134496 | CNVD |
Breast cancer | 17133270 | CNVD |
Chronic lymphocytic leukemia | 18922857 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Ovarian cancer | 22174824 | CNVD |
Moyamoya disease | 22323933 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Acute promyelocytic leukemia | 19109227 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
Myelodysplastic syndrome | 21251322 | CNVD |
Cancer | 20164919 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Acute myeloid leukemia | 20724749 | CNVD |
Non-syndromic sensorineural hearing loss | 21030649 | CNVD |
Acute myeloid leukemia | 17237825 | CNVD |
Colorectal cancer | 21645411 | CNVD |
HIV/AIDS | 22844521 | CNVD |
Psoriasis | 22844521 | CNVD |
Rheumatoid arthritis | 22844521 | CNVD |
Sclerosis systemic | 22844521 | CNVD |
Systemic lupus erythematosus | 22844521 | CNVD |
HIV/AIDS | 17953491 | CNVD |
HIV/AIDS | 20877625 | CNVD |
Immune disease | 21076436 | CNVD |
Rheumatoid arthritis | 17953491 | CNVD |
Type 1 diabetes | 17953491 | CNVD |
HIV/AIDS | 15637236 | CNVD |
Prostate cancer | 18632612 | CNVD |
Lung cancer | 18438408 | CNVD |
Ovarian cancer | 21781307 | CNVD |
Autism | 22495311 | CNVD |
Breast cancer | 20668451 | CNVD |
Cancer | 20668451 | CNVD |
Lung cancer | 20668451 | CNVD |
Ovarian cancer | 20668451 | CNVD |
Pancreas cancer | 20668451 | CNVD |
Prostate cancer | 20668451 | CNVD |
Neurofibromatosis | 18196300 | CNVD |
Adenoid cystic carcinoma | 18332873 | CNVD |
Colorectal cancer | 16774939 | CNVD |
Pancreatic cancer | 21811587 | CNVD |
Breast cancer | 17001317 | CNVD |
Rhabdomyosarcoma | 16790082 | CNVD |
Charcot-marie-tooth disease | 16463004 | CNVD |
Osteosarcoma | 22292074 | CNVD |
Breast cancer | 17603634 | CNVD |
Charcot | 16760730 | CNVD |
Mental retardation | 17901693 | CNVD |
Malignant fibrous histiocytomas | 21085701 | CNVD |
ovarian endometriomas | 16273235 | CNVD |
Ovarian cancer | 21720365 | CNVD |
Acute lymphoblastic leukemia | 21339820 | CNVD |
Gastric cancer | 18160780 | CNVD |
Smith-Magenis syndrome | 18923513 | CNVD |
Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Breast cancer | 16272173 | CNVD |
Austim spectrum disorder | 21302340 | CNVD |
Autism | 22492990 | CNVD |
Congenital abnormalities | 21549014 | CNVD |
Developmental delay | 18414209 | CNVD |
Developmental delay | 21549014 | CNVD |
Epilepsy | 20970697 | CNVD |
Mental retardation | 18414209 | CNVD |
Mental retardation | 21549014 | CNVD |
Smith-Magenis syndrome | 21981782 | CNVD |
Smith-Magenis syndrome | 20188345 | CNVD |
Smith-Magenis syndrome | 16775514 | CNVD |
Smith-Magenis syndrome | 22585170 | CNVD |
Smith-Magenis syndrome | 22241247 | CNVD |
Autism | 20970697 | CNVD |
Mental retardation | 19951919 | CNVD |
Potocki-Lupski syndrome | 21271655 | CNVD |
Potocki-lupski syndrome | 17357070 | CNVD |
Potocki-lupski syndrome | 20110824 | CNVD |
Potocki-lupski syndrome | 18923514 | CNVD |
Potocki-lupski syndrome | 22241247 | CNVD |
Potocki-lupski syndrome | 20188345 | CNVD |
Schizophrenia | 21399695 | CNVD |
Mental retardation | 16773131 | CNVD |
Adenocarcinoma | 19607727 | CNVD |
Squamous cell cancer | 19607727 | CNVD |
Non-small cell lung cancer | 21829676 | CNVD |
Glioblastoma multiforme | 17002787 | CNVD |
Charcot-marie-tooth disease | 22470819 | CNVD |
Neurofibromatosis | 22470819 | CNVD |
Neuropathy | 22470819 | CNVD |
Smith-Magenis syndrome | 18301319 | CNVD |
Smith-Magenis syndrome | 17357070 | CNVD |
Smith-Magenis syndrome | 18469339 | CNVD |
Smith-Magenis syndrome | 22241097 | CNVD |
Smith-Magenis syndrome | 22470819 | CNVD |
Tourette syndrome | 18923514 | CNVD |
Type 1 diabetes | 22470819 | CNVD |
Potocki-lupski syndrome | 18469339 | CNVD |
Follicular lymphoma | 20505157 | CNVD |
T-cell lymphomas | 19863542 | CNVD |
Neuropathy | 17597781 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Neurodevelopmental disorder | 17015230 | CNVD |
Smith-Magenis syndrome | 17597781 | CNVD |
Potocki-lupski syndrome | 18059269 | CNVD |
Potocki-lupski syndrome | 17597781 | CNVD |
Mental retardation | 17847001 | CNVD |
Multiple myeloma | 16616336 | CNVD |
Breast cancer | 20409316 | CNVD |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
Breast cancer | 21509527 | CNVD |
Ductal carcinoma | 22052326 | CNVD |
Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
Breast cancer | 22522925 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr17:16670800-16671400 | Enhancers | Duodenum Mucosa | Duodenum |
2 | chr17:16671200-16671400 | Enhancers | Primary monocytes fromperipheralblood | blood |
3 | chr17:16671200-16672000 | Enhancers | Colon Smooth Muscle | Colon |
4 | chr17:16671400-16672400 | Weak transcription | Duodenum Mucosa | Duodenum |
5 | chr17:16671400-16678600 | Weak transcription | Primary monocytes fromperipheralblood | blood |
6 | chr17:16672400-16672600 | Enhancers | Duodenum Mucosa | Duodenum |
7 | chr17:16676000-16676800 | Enhancers | HMEC | breast |
8 | chr17:16685200-16695400 | Weak transcription | Rectal Mucosa Donor 29 | rectum |
9 | chr17:16689000-16697600 | Weak transcription | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
10 | chr17:16689600-16711600 | Weak transcription | Skeletal Muscle Male | skeletal muscle |
11 | chr17:16690000-16706000 | Weak transcription | Primary T cells fromperipheralblood | blood |
12 | chr17:16690400-16696000 | Weak transcription | Brain Anterior Caudate | brain |
13 | chr17:16691200-16691600 | Enhancers | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
14 | chr17:16692800-16693000 | Enhancers | Duodenum Mucosa | Duodenum |
15 | chr17:16693000-16697600 | Weak transcription | Duodenum Mucosa | Duodenum |
16 | chr17:16695400-16695600 | Enhancers | Rectal Mucosa Donor 29 | rectum |
17 | chr17:16697600-16698000 | Enhancers | Primary monocytes fromperipheralblood | blood |
18 | chr17:16697600-16698000 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
19 | chr17:16697600-16698000 | Enhancers | Duodenum Mucosa | Duodenum |
20 | chr17:16697600-16698000 | Enhancers | A549 | lung |
21 | chr17:16697600-16698000 | Enhancers | K562 | blood |
22 | chr17:16697800-16698000 | Enhancers | Primary mononuclear cells fromperipheralblood | Blood |
23 | chr17:16698000-16704200 | Weak transcription | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
24 | chr17:16698000-16710800 | Weak transcription | Primary monocytes fromperipheralblood | blood |
25 | chr17:16698000-16711800 | Weak transcription | Primary mononuclear cells fromperipheralblood | Blood |
26 | chr17:16698800-16705200 | Weak transcription | Primary Natural Killer cells fromperipheralblood | blood |
27 | chr17:16700000-16700200 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
28 | chr17:16700200-16708200 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
29 | chr17:16708200-16708600 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
30 | chr17:16708200-16708600 | Enhancers | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
31 | chr17:16708200-16708600 | Enhancers | HUES6 Cell Line | embryonic stem cell |