Variant report
Variant | esv3318533 |
---|---|
Chromosome Location | chr19:38341218-38345584 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:7)
- CpG islands (count:185)
- Chromatin interactive region (count:1)
- LncRNA region (count:8)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:7 , 50 per page) page:
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No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | CTCF | chr19:38344100-38344250 | MCF-7 | breast: | n/a | n/a |
2 | MYC | chr19:38345266-38345268 | MCF-7 | breast: | n/a | n/a |
3 | MYC | chr19:38345185-38345264 | MCF-7 | breast: | n/a | chr19:38345185-38345196 |
4 | MYC | chr19:38345243-38345307 | K562 | blood: | n/a | chr19:38345270-38345279 |
5 | POLR2A | chr19:38343653-38343743 | ProgFib | skin: | n/a | n/a |
6 | RAD21 | chr19:38343911-38344218 | H1-hESC | embryonic stem cell: | n/a | n/a |
7 | RAD21 | chr19:38344061-38344261 | H1-hESC | embryonic stem cell: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr19:38343327-38343377 | HMEC | breast: | n/a |
2 | chr19:38344455-38344505 | HNPCEpiC | eye: | n/a |
3 | chr19:38343327-38343377 | HMEC | breast: | n/a |
4 | chr19:38344455-38344505 | HNPCEpiC | eye: | n/a |
5 | chr19:38343327-38343377 | GM12878 | blood: | n/a |
6 | chr19:38344455-38344505 | NT2-D1 | testis: | n/a |
7 | chr19:38344455-38344505 | LNCaP | prostate: | n/a |
8 | chr19:38344058-38344108 | SKMC | muscle: | n/a |
9 | chr19:38344058-38344108 | T-47D | breast: | n/a |
10 | chr19:38344058-38344108 | HNPCEpiC | eye: | n/a |
11 | chr19:38343327-38343377 | HEK293 | kidney: | embryo |
12 | chr19:38343327-38343377 | PrEC | prostate: | n/a |
13 | chr19:38344455-38344505 | NB4 | blood: | n/a |
14 | chr19:38344058-38344108 | GM06990 | blood: | n/a |
15 | chr19:38344058-38344108 | ProgFib | skin: | n/a |
16 | chr19:38344058-38344108 | Jurkat | blood: | n/a |
17 | chr19:38343327-38343377 | HIPEpiC | eye: | n/a |
18 | chr19:38344058-38344108 | IMR90 | lung: | fetal |
19 | chr19:38343327-38343377 | GM12891 | blood: | n/a |
20 | chr19:38344058-38344108 | CMK | blood: | n/a |
21 | chr19:38344455-38344505 | HCPEpiC | choroid plexus: | n/a |
22 | chr19:38344058-38344108 | AG04449 | skin: | fetal |
23 | chr19:38343327-38343377 | NHBE | bronchial: | n/a |
24 | chr19:38343327-38343377 | AG09309 | skin: | n/a |
25 | chr19:38344058-38344108 | MCF-7 | breast: | n/a |
26 | chr19:38344058-38344108 | HepG2 | liver: | n/a |
27 | chr19:38344058-38344108 | MCF10A-Er-Src | breast: | n/a |
28 | chr19:38343327-38343377 | HRPEpiC | eye: | n/a |
29 | chr19:38344058-38344108 | SK-N-SH | brain: | n/a |
30 | chr19:38343327-38343377 | PFSK-1 | brain: | n/a |
31 | chr19:38344058-38344108 | AG09309 | skin: | n/a |
32 | chr19:38343327-38343377 | A549 | lung: | n/a |
33 | chr19:38344455-38344505 | HepG2 | liver: | n/a |
34 | chr19:38343327-38343377 | NHDF-neo | bronchial: | n/a |
35 | chr19:38344058-38344108 | SAEC | small airway: | n/a |
36 | chr19:38344058-38344108 | AG10803 | skin: | n/a |
37 | chr19:38344058-38344108 | NT2-D1 | testis: | n/a |
38 | chr19:38344455-38344505 | A549 | lung: | n/a |
39 | chr19:38344455-38344505 | CMK | blood: | n/a |
40 | chr19:38344455-38344505 | RPTEC | kidney: | n/a |
41 | chr19:38344058-38344108 | HCPEpiC | choroid plexus: | n/a |
42 | chr19:38343327-38343377 | ECC-1 | luminal epithelium: | n/a |
43 | chr19:38344058-38344108 | HRCEpiC | kidney: | n/a |
44 | chr19:38344058-38344108 | SK-N-SH_RA | brain: | n/a |
45 | chr19:38344058-38344108 | K562 | blood: | n/a |
46 | chr19:38343327-38343377 | SK-N-SH | brain: | n/a |
47 | chr19:38344058-38344108 | HEEpiC | esophagus: | n/a |
48 | chr19:38343327-38343377 | AG09319 | gingival: | n/a |
49 | chr19:38344058-38344108 | AG09319 | gingival: | n/a |
50 | chr19:38344455-38344505 | AG09309 | skin: | n/a |
(count:1 , 50 per page) page:
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr19:38322269..38323772-chr19:38341605..38343235,2 | K562 | blood: |
(count:8 , 50 per page) page:
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-ZNF573-1 | chr19:38343642-38343761 | ENSG00000225868.2 |
2 | lnc-ZNF573-1 | chr19:38343642-38343761 | ENSG00000225868.2 |
3 | lnc-ZNF573-1 | chr19:38343930-38344165 | ENSG00000225868.2 |
4 | lnc-ZNF573-1 | chr19:38344539-38344602 | ENSG00000225868 |
5 | lnc-ZNF573-1 | chr19:38344539-38344602 | NR_040015 |
6 | lnc-ZNF573-1 | chr19:38344539-38344602 | ENSG00000225868.2 |
7 | lnc-ZNF573-1 | chr19:38343642-38343761 | ENSG00000225868.2 |
8 | lnc-ZNF573-1 | chr19:38343930-38344187 | ENSG00000225868.2 |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000225868 | TF binding region |
ENSG00000225868 | CpG island |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs376912641 | chr19:38343686-38343687 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
2 | rs559874999 | chr19:38343745-38343746 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
3 | rs534022305 | chr19:38343761-38343762 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
4 | rs557202209 | chr19:38343943-38343944 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
5 | rs575563206 | chr19:38343977-38343978 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
6 | rs546165853 | chr19:38344053-38344054 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
7 | rs565136801 | chr19:38344087-38344088 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
8 | rs564060363 | chr19:38344128-38344129 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
9 | rs572909519 | chr19:38344157-38344158 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
10 | rs539927494 | chr19:38344205-38344206 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
11 | rs537717319 | chr19:38344233-38344234 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
12 | rs561791981 | chr19:38344258-38344259 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
13 | rs534170746 | chr19:38344495-38344496 | Inactive region | CpG island | 1 gene(s) | Overlapped CNVs | n/a |
14 | rs141669925 | chr19:38344496-38344497 | Inactive region | CpG island | 1 gene(s) | Overlapped CNVs | n/a |
15 | rs372229744 | chr19:38344586-38344587 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
16 | rs560380171 | chr19:38345219-38345220 | ZNF genes & repeats Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
17 | rs527987009 | chr19:38345223-38345224 | ZNF genes & repeats Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
18 | rs143131372 | chr19:38345239-38345240 | ZNF genes & repeats Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
19 | rs575931818 | chr19:38345247-38345248 | ZNF genes & repeats Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
20 | rs181207950 | chr19:38345253-38345254 | ZNF genes & repeats Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
21 | rs368214703 | chr19:38345254-38345255 | ZNF genes & repeats Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
22 | rs372015907 | chr19:38345325-38345326 | ZNF genes & repeats Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs531822144 | chr19:38345418-38345419 | ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
24 | rs76870306 | chr19:38345451-38345452 | ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
25 | rs78034992 | chr19:38345453-38345454 | ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
26 | rs550331959 | chr19:38345497-38345498 | ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
27 | rs58449039 | chr19:38345542-38345543 | ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
28 | rs539614308 | chr19:38345545-38345546 | ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
29 | rs369977611 | chr19:38345548-38345549 | ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
30 | rs557997941 | chr19:38345570-38345571 | ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Myelodysplastic syndrome | 17634407 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Chordoma | 21602918 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Cancer | 21637783 | CNVD |
Retinoblastoma | 21504564 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Ovarian cancer | 21720365 | CNVD |
Cancer | 20164919 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Prostate cancer | 18632612 | CNVD |
Autism | 22495311 | CNVD |
Adenoid cystic carcinoma | 18698036 | CNVD |
Ductal carcinoma | 22052326 | CNVD |
Pleomorphic liposarcoma | 18784837 | CNVD |
Congenital nephrotic syndrome | 18421352 | CNVD |
Astrocytoma | 17934521 | CNVD |
Leukemia | 17361228 | CNVD |
Adenoid cystic carcinoma | 17372589 | CNVD |
Breast cancer | 21858162 | CNVD |
Breast cancer | 17603634 | CNVD |
Glioma | 21971842 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Astrocytoma | 17387387 | CNVD |
Breast cancer | 21264507 | CNVD |
Oligodendroglial tumors | 17285580 | CNVD |
renal disease | 20603712 | CNVD |
Salivary gland adenoid cystic carcinoma | 17545515 | CNVD |
Disorders of sex development | 21048976 | CNVD |
Ovarian cancer | 22174824 | CNVD |
Breast cancer | 16608533 | CNVD |
Neuroblastoma | 18923191 | CNVD |
Breast cancer | 21364760 | CNVD |
Invasive pancreatic ductal carcinoma | 18765526 | CNVD |
Rhabdomyosarcoma | 16790082 | CNVD |
Chordoma | 18071362 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Lung cancer | 18438408 | CNVD |
Wilms tumour | 21544195 | CNVD |
Mental retardation | 19951919 | CNVD |
19q13.11 deletion syndrome | 22378287 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Breast cancer | 21045282 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Ovarian neoplasms | 16753589 | CNVD |
Malignant fibrous histiocytomas | 21085701 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Lung cancer | 21569311 | CNVD |
Bladder cancer | 21909424 | CNVD |
Medulloblastoma | 16783165 | CNVD |
Breast cancer | 22522925 | CNVD |
Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr19:38345200-38345600 | Enhancers | Fetal Brain Male | brain |
2 | chr19:38345200-38347200 | ZNF genes & repeats | Esophagus | oesophagus |
3 | chr19:38345400-38345600 | Bivalent Enhancer | Fetal Muscle Trunk | muscle |
4 | chr19:38345400-38345600 | Bivalent Enhancer | Fetal Stomach | stomach |
5 | chr19:38345400-38346200 | Active TSS | Fetal Brain Female | brain |
6 | chr19:38345400-38347200 | ZNF genes & repeats | Placenta | Placenta |
7 | chr19:38345400-38347600 | ZNF genes & repeats | Foreskin Fibroblast Primary Cells skin01 | Skin |