Variant report
Variant | nsv833951 |
---|---|
Chromosome Location | chr20:29833448-29878205 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:241)
- CpG islands (count:367)
- Chromatin interactive region (count:3)
- LncRNA region (count:2)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr20:29844575-29844625 | SAEC | small airway: | n/a |
2 | chr20:29844575-29844625 | SAEC | small airway: | n/a |
3 | chr20:29844516-29844566 | LNCaP | prostate: | n/a |
4 | chr20:29845272-29845322 | U87 | brain: | n/a |
5 | chr20:29844516-29844566 | HRPEpiC | eye: | n/a |
6 | chr20:29844575-29844625 | H1-hESC | embryonic stem cell: | embryo |
7 | chr20:29847402-29847452 | HEK293 | kidney: | embryo |
8 | chr20:29845272-29845322 | HIPEpiC | eye: | n/a |
9 | chr20:29845320-29845370 | SKMC | muscle: | n/a |
10 | chr20:29845320-29845370 | HCF | heart: | n/a |
11 | chr20:29844516-29844566 | NHBE | bronchial: | n/a |
12 | chr20:29844575-29844625 | HCF | heart: | n/a |
13 | chr20:29844575-29844625 | GM12891 | blood: | n/a |
14 | chr20:29844549-29844599 | HPAEpiC | pulmonary alveolar: | n/a |
15 | chr20:29844575-29844625 | HNPCEpiC | eye: | n/a |
16 | chr20:29845320-29845370 | HRCEpiC | kidney: | n/a |
17 | chr20:29847402-29847452 | LNCaP | prostate: | n/a |
18 | chr20:29844549-29844599 | ProgFib | skin: | n/a |
19 | chr20:29844549-29844599 | HMEC | breast: | n/a |
20 | chr20:29844516-29844566 | K562 | blood: | n/a |
21 | chr20:29844516-29844566 | NB4 | blood: | n/a |
22 | chr20:29844575-29844625 | ECC-1 | luminal epithelium: | n/a |
23 | chr20:29845272-29845322 | BE2_C | brain: | n/a |
24 | chr20:29844549-29844599 | HRCEpiC | kidney: | n/a |
25 | chr20:29844549-29844599 | HIPEpiC | eye: | n/a |
26 | chr20:29847402-29847452 | T-47D | breast: | n/a |
27 | chr20:29844549-29844599 | LNCaP | prostate: | n/a |
28 | chr20:29844549-29844599 | ECC-1 | luminal epithelium: | n/a |
29 | chr20:29845320-29845370 | HCT-116 | colon: | n/a |
30 | chr20:29845320-29845370 | SK-N-MC | brain: | n/a |
31 | chr20:29844575-29844625 | NT2-D1 | testis: | n/a |
32 | chr20:29844516-29844566 | AoSMC | blood vessel: | n/a |
33 | chr20:29847402-29847452 | AoSMC | blood vessel: | n/a |
34 | chr20:29844575-29844625 | HCPEpiC | choroid plexus: | n/a |
35 | chr20:29845272-29845322 | HRPEpiC | eye: | n/a |
36 | chr20:29847402-29847452 | NT2-D1 | testis: | n/a |
37 | chr20:29847402-29847452 | AG10803 | skin: | n/a |
38 | chr20:29847402-29847452 | CMK | blood: | n/a |
39 | chr20:29844549-29844599 | ovcar-3 | ovarian: | n/a |
40 | chr20:29844549-29844599 | Jurkat | blood: | n/a |
41 | chr20:29844575-29844625 | ProgFib | skin: | n/a |
42 | chr20:29845320-29845370 | Jurkat | blood: | n/a |
43 | chr20:29844516-29844566 | RPTEC | kidney: | n/a |
44 | chr20:29844549-29844599 | HEK293 | kidney: | embryo |
45 | chr20:29844516-29844566 | HMEC | breast: | n/a |
46 | chr20:29845272-29845322 | SK-N-SH | brain: | n/a |
47 | chr20:29844549-29844599 | Hela-S3 | cervix: | n/a |
48 | chr20:29844549-29844599 | IMR90 | lung: | fetal |
49 | chr20:29847402-29847452 | PANC-1 | pancreas: | n/a |
50 | chr20:29844549-29844599 | K562 | blood: | n/a |
(count:3 , 50 per page) page:
1
(count:2 , 50 per page) page:
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-DEFB115-1 | chr20:29857512-29857638 | NONHSAT079283 |
2 | lnc-DEFB115-1 | chr20:29852980-29853059 | NONHSAT079283 |
No data |
No data |
Variant related genes | Relation type |
---|---|
DKKL1P1 | TF binding region |
ENSG00000224628 | TF binding region |
DEFB115 | TF binding region |
DKKL1P1 | CpG island |
ENSG00000224628 | CpG island |
DEFB115 | CpG island |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs183468146 | chr20:29833455-29833456 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
2 | rs546292414 | chr20:29833473-29833474 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
3 | rs6058010 | chr20:29833535-29833536 | Weak transcription ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
4 | rs532067032 | chr20:29833546-29833547 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
5 | rs188859834 | chr20:29833577-29833578 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
6 | rs144700669 | chr20:29833585-29833586 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
7 | rs6059724 | chr20:29833609-29833610 | Weak transcription ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
8 | rs550955174 | chr20:29833610-29833611 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
9 | rs193091852 | chr20:29833678-29833679 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
10 | rs375695171 | chr20:29833679-29833680 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
11 | rs183417738 | chr20:29833726-29833727 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
12 | rs369101821 | chr20:29833766-29833767 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
13 | rs553597925 | chr20:29833772-29833773 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
14 | rs573411214 | chr20:29833812-29833813 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs539115701 | chr20:29833815-29833816 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs111972030 | chr20:29833816-29833817 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs186598551 | chr20:29833828-29833829 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs138434934 | chr20:29833863-29833864 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs544505061 | chr20:29833879-29833880 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs6120575 | chr20:29833898-29833899 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
21 | rs575846342 | chr20:29833910-29833911 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs561595210 | chr20:29833920-29833921 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs191403777 | chr20:29833960-29833961 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs183890944 | chr20:29833975-29833976 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs189652726 | chr20:29833981-29833982 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs532103653 | chr20:29834010-29834011 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
27 | rs193034075 | chr20:29834047-29834048 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
28 | rs116935020 | chr20:29834062-29834063 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
29 | rs149255902 | chr20:29834066-29834067 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
30 | rs551257834 | chr20:29834079-29834080 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
31 | rs567907561 | chr20:29834080-29834081 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
32 | rs114708381 | chr20:29834086-29834087 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
33 | rs11907117 | chr20:29834107-29834108 | Weak transcription ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
34 | rs185187999 | chr20:29834120-29834121 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
35 | rs539152097 | chr20:29834137-29834138 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
36 | rs544575160 | chr20:29834145-29834146 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
37 | rs575597706 | chr20:29834158-29834159 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
38 | rs144441066 | chr20:29834195-29834196 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
39 | rs190421947 | chr20:29834198-29834199 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
40 | rs117278602 | chr20:29834215-29834216 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
41 | rs4557063 | chr20:29834240-29834241 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
42 | rs181900757 | chr20:29834241-29834242 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
43 | rs148482670 | chr20:29834253-29834254 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
44 | rs143690374 | chr20:29834261-29834262 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
45 | rs545502443 | chr20:29834282-29834283 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
46 | rs562396154 | chr20:29834290-29834291 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
47 | rs531427848 | chr20:29834301-29834302 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
48 | rs186524356 | chr20:29834304-29834305 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
49 | rs147197412 | chr20:29834308-29834309 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
50 | rs530441501 | chr20:29834321-29834322 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Gastric cancer | 17908304 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Colorectal cancer | 21645411 | CNVD |
Autism | 22495311 | CNVD |
Anaplastic large cell lymphoma | 18179710 | CNVD |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
Pancreatic endocrine tumor | 17639061 | CNVD |
Chordoma | 18071362 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Breast cancer | 21806811 | CNVD |
Melanoma | 21693616 | CNVD |
Astrocytoma | 17387387 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Glioblastoma multiforme | 17387387 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
colon cancer | 17210682 | CNVD |
Colorectal cancer | 20709793 | CNVD |
Breast cancer | 22028636 | CNVD |
Breast cancer | 21264507 | CNVD |
Thyroid cancer | 19087340 | CNVD |
Myeloproliferative neoplasm | 20015882 | CNVD |
Soft tissue tumor | 16732325 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Gastric cancer | 17167181 | CNVD |
Myeloproliferative neoplasm | 19047681 | CNVD |
Breast cancer | 17899364 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Human rectal carcinomas | 16397240 | CNVD |
Olfactory neuroblastoma | 18408657 | CNVD |
Bladder cancer | 21909424 | CNVD |
Hodgkin''s lymphoma | 18641027 | CNVD |
Acute lymphoblastic leukemia | 21339820 | CNVD |
Cutaneous T-cell lymphoma | 21881587 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Colorectal cancer | 22860045 | CNVD |
Ovarian cancer | 20844748 | CNVD |
Non-small cell lung cancer | 21829676 | CNVD |
Breast cancer | 17603634 | CNVD |
Melanoma | 18172304 | CNVD |
Breast cancer | 16608533 | CNVD |
Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
Breast cancer | 21364760 | CNVD |
small cell lung cancer | 20016488 | CNVD |
early-passage human iPS cells | 21368824 | CNVD |
Lung cancer | 18438408 | CNVD |
Gastric cancer | 16891809 | CNVD |
Prostate cancer | 16573809 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Breast cancer | 17133270 | CNVD |
Oral cancer | 21386901 | CNVD |
Ovarian clear cell carcinoma | 21343371 | CNVD |
Cancer | 20164920 | CNVD |
Melanoma | 20877625 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Gastric cancer | 22014070 | CNVD |
Breast cancer | 22522925 | CNVD |
Breast cancer | 21509527 | CNVD |
Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr20:29803800-29833600 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
2 | chr20:29803800-29833600 | ZNF genes & repeats | iPS-20b Cell Line | embryonic stem cell |
3 | chr20:29803800-29833800 | ZNF genes & repeats | HUES64 Cell Line | embryonic stem cell |
4 | chr20:29804000-29833600 | ZNF genes & repeats | HUES6 Cell Line | embryonic stem cell |
5 | chr20:29833400-29835600 | Weak transcription | Fetal Heart | heart |
6 | chr20:29833400-29839400 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
7 | chr20:29834000-29834600 | ZNF genes & repeats | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
8 | chr20:29843800-29844400 | Active TSS | Fetal Heart | heart |
9 | chr20:29857200-29857800 | ZNF genes & repeats | Pancreatic Islets | Pancreatic Islet |
10 | chr20:29857200-29858600 | ZNF genes & repeats | iPS-20b Cell Line | embryonic stem cell |
11 | chr20:29857600-29858200 | ZNF genes & repeats | Duodenum Smooth Muscle | Duodenum |
12 | chr20:29858200-29859000 | Weak transcription | Duodenum Smooth Muscle | Duodenum |
13 | chr20:29859000-29860600 | ZNF genes & repeats | Duodenum Smooth Muscle | Duodenum |
14 | chr20:29859600-29860800 | ZNF genes & repeats | Adipose Nuclei | Adipose |
15 | chr20:29860000-29860800 | ZNF genes & repeats | Gastric | stomach |
16 | chr20:29860200-29860600 | ZNF genes & repeats | H1 Derived Mesenchymal Stem Cells | ES cell derived |
17 | chr20:29860600-29862000 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
18 | chr20:29862000-29862600 | ZNF genes & repeats | H1 Derived Mesenchymal Stem Cells | ES cell derived |
19 | chr20:29865000-29866600 | ZNF genes & repeats | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
20 | chr20:29865800-29866000 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
21 | chr20:29865800-29866800 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |
22 | chr20:29867400-29868000 | ZNF genes & repeats | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |