Variant report
Variant | esv3453205 |
---|---|
Chromosome Location | chr1:247277329-247282727 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:219)
- CpG islands (count:183)
- Chromatin interactive region (count:7)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr1:247282458-247282508 | HMEC | breast: | n/a |
2 | chr1:247282458-247282508 | PFSK-1 | brain: | n/a |
3 | chr1:247278828-247278878 | GM06990 | blood: | n/a |
4 | chr1:247278828-247278878 | NT2-D1 | testis: | n/a |
5 | chr1:247282458-247282508 | HUVEC | blood vessel: | n/a |
6 | chr1:247282458-247282508 | NH-A | brain: | n/a |
7 | chr1:247279205-247279255 | HEK293 | kidney: | embryo |
8 | chr1:247278828-247278878 | SK-N-SH_RA | brain: | n/a |
9 | chr1:247279205-247279255 | AG09309 | skin: | n/a |
10 | chr1:247278828-247278878 | NHDF-neo | bronchial: | n/a |
11 | chr1:247279205-247279255 | ovcar-3 | ovarian: | n/a |
12 | chr1:247278828-247278878 | NHBE | bronchial: | n/a |
13 | chr1:247282458-247282508 | ovcar-3 | ovarian: | n/a |
14 | chr1:247278828-247278878 | PrEC | prostate: | n/a |
15 | chr1:247278828-247278878 | H1-hESC | embryonic stem cell: | embryo |
16 | chr1:247279205-247279255 | HCM | heart: | n/a |
17 | chr1:247278828-247278878 | RPTEC | kidney: | n/a |
18 | chr1:247279205-247279255 | HAEpiC | amniotic membrane: | n/a |
19 | chr1:247279205-247279255 | U87 | brain: | n/a |
20 | chr1:247282458-247282508 | HCM | heart: | n/a |
21 | chr1:247282458-247282508 | U87 | brain: | n/a |
22 | chr1:247282458-247282508 | HPAEpiC | pulmonary alveolar: | n/a |
23 | chr1:247278828-247278878 | HAEpiC | amniotic membrane: | n/a |
24 | chr1:247279205-247279255 | HL-60 | blood: | n/a |
25 | chr1:247278828-247278878 | HIPEpiC | eye: | n/a |
26 | chr1:247279205-247279255 | T-47D | breast: | n/a |
27 | chr1:247282458-247282508 | GM06990 | blood: | n/a |
28 | chr1:247279205-247279255 | AoSMC | blood vessel: | n/a |
29 | chr1:247278828-247278878 | GM12892 | blood: | n/a |
30 | chr1:247278828-247278878 | BJ | skin: | n/a |
31 | chr1:247282458-247282508 | PANC-1 | pancreas: | n/a |
32 | chr1:247278828-247278878 | HCPEpiC | choroid plexus: | n/a |
33 | chr1:247282458-247282508 | HCT-116 | colon: | n/a |
34 | chr1:247282458-247282508 | GM12878 | blood: | n/a |
35 | chr1:247282458-247282508 | H1-hESC | embryonic stem cell: | embryo |
36 | chr1:247279205-247279255 | SK-N-MC | brain: | n/a |
37 | chr1:247279205-247279255 | IMR90 | lung: | fetal |
38 | chr1:247282458-247282508 | NHBE | bronchial: | n/a |
39 | chr1:247278828-247278878 | LNCaP | prostate: | n/a |
40 | chr1:247282458-247282508 | Hela-S3 | cervix: | n/a |
41 | chr1:247278828-247278878 | GM12878 | blood: | n/a |
42 | chr1:247278828-247278878 | PANC-1 | pancreas: | n/a |
43 | chr1:247282458-247282508 | ProgFib | skin: | n/a |
44 | chr1:247279205-247279255 | HepG2 | liver: | n/a |
45 | chr1:247282458-247282508 | HRCEpiC | kidney: | n/a |
46 | chr1:247282458-247282508 | PrEC | prostate: | n/a |
47 | chr1:247279205-247279255 | MCF-7 | breast: | n/a |
48 | chr1:247279205-247279255 | HNPCEpiC | eye: | n/a |
49 | chr1:247282458-247282508 | SK-N-SH | brain: | n/a |
50 | chr1:247282458-247282508 | NT2-D1 | testis: | n/a |
(count:7 , 50 per page) page:
1
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr1:247261271..247263933-chr1:247276366..247278097,2 | K562 | blood: | |
2 | chr1:247241666..247243646-chr1:247278123..247279948,2 | K562 | blood: | |
3 | chr1:247262370..247270931-chr1:247272613..247278774,19 | MCF-7 | breast: | |
4 | chr1:247273239..247275061-chr1:247277041..247280302,3 | K562 | blood: | |
5 | chr1:247092146..247096759-chr1:247274350..247278356,6 | MCF-7 | breast: | |
6 | chr1:247276067..247278651-chr1:247493890..247496062,2 | MCF-7 | breast: | |
7 | chr1:247274786..247276587-chr1:247277453..247279795,2 | MCF-7 | breast: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
FGFR3P6 | TF binding region |
C1orf229 | TF binding region |
FGFR3P6 | CpG island |
C1orf229 | CpG island |
ENSG00000162714 | chromatin interactions |
ENSG00000188295 | chromatin interactions |
ENSG00000135747 | chromatin interactions |
ENSG00000221953 | chromatin interactions |
ENSG00000153207 | chromatin interactions |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs75493280 | chr1:247277350-247277351 | Weak transcription Flanking Active TSS | TF binding regionChromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
2 | rs76331348 | chr1:247277355-247277356 | Weak transcription Flanking Active TSS | TF binding regionChromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
3 | rs564647716 | chr1:247277412-247277413 | Weak transcription Flanking Active TSS | TF binding regionChromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
4 | rs375704724 | chr1:247277416-247277417 | Weak transcription Flanking Active TSS | TF binding regionChromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
5 | rs144689617 | chr1:247277440-247277441 | Weak transcription Flanking Active TSS | TF binding regionChromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
6 | rs550322186 | chr1:247277448-247277449 | Weak transcription Flanking Active TSS | TF binding regionChromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
7 | rs567239574 | chr1:247277454-247277455 | Weak transcription Flanking Active TSS | TF binding regionChromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
8 | rs563656507 | chr1:247277460-247277461 | Weak transcription Flanking Active TSS | TF binding regionChromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
9 | rs78176460 | chr1:247277540-247277541 | Weak transcription Flanking Active TSS | TF binding regionChromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
10 | rs373405393 | chr1:247277543-247277544 | Weak transcription Flanking Active TSS | TF binding regionChromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
11 | rs533165510 | chr1:247277572-247277573 | Weak transcription Flanking Active TSS | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
12 | rs549697202 | chr1:247277584-247277585 | Weak transcription Flanking Active TSS | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
13 | rs370724314 | chr1:247277621-247277622 | Weak transcription Flanking Active TSS | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
14 | rs369515479 | chr1:247277724-247277725 | Weak transcription Flanking Active TSS | TF binding regionChromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
15 | rs79991382 | chr1:247277728-247277729 | Weak transcription Flanking Active TSS | TF binding regionChromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
16 | rs535244680 | chr1:247277770-247277771 | Weak transcription Flanking Active TSS | TF binding regionChromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
17 | rs558339417 | chr1:247277815-247277816 | Weak transcription Flanking Active TSS | TF binding regionChromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
18 | rs571670254 | chr1:247277816-247277817 | Weak transcription Flanking Active TSS | TF binding regionChromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
19 | rs141497979 | chr1:247277817-247277818 | Weak transcription Flanking Active TSS | TF binding regionChromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
20 | rs78281580 | chr1:247277832-247277833 | Weak transcription Flanking Active TSS | TF binding regionChromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
21 | rs114743654 | chr1:247277833-247277834 | Weak transcription Flanking Active TSS | TF binding regionChromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
22 | rs143842941 | chr1:247277835-247277836 | Weak transcription Flanking Active TSS | TF binding regionChromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
23 | rs552838411 | chr1:247277880-247277881 | Weak transcription Flanking Active TSS | TF binding regionChromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
24 | rs372802714 | chr1:247277902-247277903 | Weak transcription Flanking Active TSS | TF binding regionChromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
25 | rs572760914 | chr1:247277937-247277938 | Weak transcription Flanking Active TSS | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
26 | rs151113387 | chr1:247277940-247277941 | Weak transcription Flanking Active TSS | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
27 | rs565058399 | chr1:247277959-247277960 | Weak transcription Flanking Active TSS | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
28 | rs530555257 | chr1:247277975-247277976 | Weak transcription Flanking Active TSS | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
29 | rs12068730 | chr1:247278012-247278013 | Weak transcription Flanking Active TSS | Chromatin interactive region | 4 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
30 | rs534126114 | chr1:247278018-247278019 | Weak transcription Flanking Active TSS | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
31 | rs529685993 | chr1:247278082-247278083 | Weak transcription Flanking Active TSS | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
32 | rs141060877 | chr1:247278088-247278089 | Weak transcription Flanking Active TSS | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
33 | rs187239177 | chr1:247278118-247278119 | Weak transcription Flanking Active TSS | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
34 | rs60176339 | chr1:247278125-247278126 | Weak transcription Flanking Active TSS | Chromatin interactive region | 5 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
35 | rs534588348 | chr1:247278135-247278136 | Weak transcription Flanking Active TSS | Chromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
36 | rs553310215 | chr1:247278188-247278189 | Weak transcription Flanking Active TSS | Chromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
37 | rs571606134 | chr1:247278220-247278221 | Weak transcription Flanking Active TSS | Chromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
38 | rs112474547 | chr1:247278228-247278229 | Weak transcription Flanking Active TSS | Chromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
39 | rs537176199 | chr1:247278245-247278246 | Weak transcription Flanking Active TSS | Chromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
40 | rs556241409 | chr1:247278271-247278272 | Weak transcription Flanking Active TSS | Chromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
41 | rs557022226 | chr1:247278286-247278287 | Weak transcription Flanking Active TSS | Chromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
42 | rs567592231 | chr1:247278291-247278292 | Weak transcription Flanking Active TSS | Chromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
43 | rs536256486 | chr1:247278310-247278311 | Weak transcription Flanking Active TSS | Chromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
44 | rs552902348 | chr1:247278416-247278417 | Weak transcription Enhancers Flanking Active TSS | TF binding regionChromatin interactive region | 6 gene(s) | Overlapped CNVs | n/a |
45 | rs74931093 | chr1:247278445-247278446 | Weak transcription Enhancers Flanking Active TSS | TF binding regionChromatin interactive region | 6 gene(s) | Overlapped CNVs | n/a |
46 | rs78664116 | chr1:247278451-247278452 | Weak transcription Enhancers Flanking Active TSS | TF binding regionChromatin interactive region | 6 gene(s) | Overlapped CNVs | n/a |
47 | rs555731259 | chr1:247278459-247278460 | Weak transcription Enhancers Flanking Active TSS | TF binding regionChromatin interactive region | 6 gene(s) | Overlapped CNVs | n/a |
48 | rs558500048 | chr1:247278490-247278491 | Weak transcription Enhancers Flanking Active TSS | TF binding regionChromatin interactive region | 6 gene(s) | Overlapped CNVs | n/a |
49 | rs575393669 | chr1:247278492-247278493 | Weak transcription Enhancers Flanking Active TSS | TF binding regionChromatin interactive region | 6 gene(s) | Overlapped CNVs | n/a |
50 | rs544019042 | chr1:247278498-247278499 | Weak transcription Enhancers Flanking Active TSS | TF binding regionChromatin interactive region | 6 gene(s) | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Breast cancer | 17133270 | CNVD |
Acute lymphoblastic leukemia | 20435627 | 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 |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Breast cancer | 17001317 | CNVD |
Neuroblastoma | 18923191 | CNVD |
Acute lymphoblastic leukemia | 19100363 | CNVD |
Breast cancer | 21509527 | CNVD |
Hepatocellular carcinoma | 18803288 | CNVD |
Urothelial tumor | 18831757 | CNVD |
Basal cell lymphoma | 17170743 | CNVD |
Basal cell lymphoma | 17053054 | CNVD |
Cancer | 17060936 | CNVD |
Multiple myeloma | 16616336 | CNVD |
Cutaneous malignant melanoma | 18794153 | CNVD |
Astrocytoma | 17934521 | CNVD |
Neurocytoma | 17123091 | CNVD |
Central neurocytomas | 17123091 | CNVD |
Breast cancer | 20409316 | CNVD |
Fibroblasts | 17951408 | CNVD |
Lung cancer | 17951408 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr1:247275600-247279200 | Flanking Active TSS | HepG2 | liver |
2 | chr1:247276000-247278400 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
3 | chr1:247276600-247284600 | Weak transcription | Right Ventricle | heart |
4 | chr1:247276800-247278800 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
5 | chr1:247276800-247278800 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
6 | chr1:247276800-247283000 | Weak transcription | Spleen | Spleen |
7 | chr1:247277000-247278600 | Weak transcription | Foreskin Fibroblast Primary Cells skin02 | Skin |
8 | chr1:247278400-247278600 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
9 | chr1:247278600-247278800 | ZNF genes & repeats | Foreskin Fibroblast Primary Cells skin01 | Skin |
10 | chr1:247278600-247278800 | Bivalent/Poised TSS | Foreskin Fibroblast Primary Cells skin02 | Skin |
11 | chr1:247278800-247279000 | Enhancers | H1 Derived Mesenchymal Stem Cells | ES cell derived |
12 | chr1:247278800-247279000 | Flanking Bivalent TSS/Enh | Foreskin Fibroblast Primary Cells skin02 | Skin |
13 | chr1:247278800-247279200 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
14 | chr1:247279000-247279200 | Bivalent Enhancer | Foreskin Fibroblast Primary Cells skin02 | Skin |
15 | chr1:247279000-247290800 | Weak transcription | iPS DF 6.9 Cell Line | embryonic stem cell |
16 | chr1:247279200-247282400 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
17 | chr1:247282200-247282600 | Active TSS | Foreskin Fibroblast Primary Cells skin02 | Skin |
18 | chr1:247282200-247283600 | ZNF genes & repeats | Foreskin Melanocyte Primary Cells skin01 | Skin |
19 | chr1:247282400-247283800 | Enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |
20 | chr1:247282600-247291000 | Weak transcription | Foreskin Fibroblast Primary Cells skin02 | Skin |