Variant report
Variant | nsv557738 |
---|---|
Chromosome Location | chr12:21525704-21531437 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:8)
- CpG islands (count:122)
- Chromatin interactive region (count:5)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:8 , 50 per page) page:
1
No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | CEBPB | chr12:21530522-21530768 | HepG2 | liver: | n/a | chr12:21530683-21530696 |
2 | MAFK | chr12:21525868-21526001 | HepG2 | liver: | n/a | chr12:21525911-21525922 chr12:21525912-21525923 chr12:21525911-21525927 chr12:21525910-21525924 chr12:21525911-21525922 |
3 | MAZ | chr12:21526762-21526825 | HepG2 | liver: | n/a | n/a |
4 | MYC | chr12:21529076-21529275 | MCF10A-Er-Src | breast: | n/a | n/a |
5 | POLR2A | chr12:21528662-21528719 | MCF10A-Er-Src | breast: | n/a | n/a |
6 | POLR2A | chr12:21527795-21527899 | Gliobla | brain: | n/a | n/a |
7 | RFX5 | chr12:21529949-21530002 | K562 | blood: | n/a | n/a |
8 | STAT3 | chr12:21526703-21526826 | MCF10A-Er-Src | breast: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr12:21525662-21525712 | Hepatocyte | liver: | n/a |
2 | chr12:21525662-21525712 | GM12892 | blood: | n/a |
3 | chr12:21531187-21531237 | HUVEC | blood vessel: | n/a |
4 | chr12:21525662-21525712 | ProgFib | skin: | n/a |
5 | chr12:21531187-21531237 | HIPEpiC | eye: | n/a |
6 | chr12:21525662-21525712 | HUVEC | blood vessel: | n/a |
7 | chr12:21531187-21531237 | Hela-S3 | cervix: | n/a |
8 | chr12:21531187-21531237 | U87 | brain: | n/a |
9 | chr12:21531187-21531237 | HPAEpiC | pulmonary alveolar: | n/a |
10 | chr12:21531187-21531237 | ProgFib | skin: | n/a |
11 | chr12:21525662-21525712 | NB4 | blood: | n/a |
12 | chr12:21525662-21525712 | BE2_C | brain: | n/a |
13 | chr12:21525662-21525712 | HCF | heart: | n/a |
14 | chr12:21525662-21525712 | HNPCEpiC | eye: | n/a |
15 | chr12:21531187-21531237 | GM12892 | blood: | n/a |
16 | chr12:21525662-21525712 | Hela-S3 | cervix: | n/a |
17 | chr12:21531187-21531237 | HCT-116 | colon: | n/a |
18 | chr12:21531187-21531237 | Hepatocyte | liver: | n/a |
19 | chr12:21525662-21525712 | IMR90 | lung: | fetal |
20 | chr12:21531187-21531237 | PANC-1 | pancreas: | n/a |
21 | chr12:21531187-21531237 | ECC-1 | luminal epithelium: | n/a |
22 | chr12:21531187-21531237 | HL-60 | blood: | n/a |
23 | chr12:21531187-21531237 | NHBE | bronchial: | n/a |
24 | chr12:21531187-21531237 | HCM | heart: | n/a |
25 | chr12:21531187-21531237 | GM12878 | blood: | n/a |
26 | chr12:21525662-21525712 | HMEC | breast: | n/a |
27 | chr12:21525662-21525712 | AG09309 | skin: | n/a |
28 | chr12:21531187-21531237 | HRCEpiC | kidney: | n/a |
29 | chr12:21525662-21525712 | MCF10A-Er-Src | breast: | n/a |
30 | chr12:21525662-21525712 | RPTEC | kidney: | n/a |
31 | chr12:21525662-21525712 | MCF-7 | breast: | n/a |
32 | chr12:21525662-21525712 | Jurkat | blood: | n/a |
33 | chr12:21531187-21531237 | HCPEpiC | choroid plexus: | n/a |
34 | chr12:21531187-21531237 | GM12891 | blood: | n/a |
35 | chr12:21531187-21531237 | AG09319 | gingival: | n/a |
36 | chr12:21531187-21531237 | HMEC | breast: | n/a |
37 | chr12:21525662-21525712 | T-47D | breast: | n/a |
38 | chr12:21525662-21525712 | A549 | lung: | n/a |
39 | chr12:21525662-21525712 | HL-60 | blood: | n/a |
40 | chr12:21525662-21525712 | BJ | skin: | n/a |
41 | chr12:21525662-21525712 | LNCaP | prostate: | n/a |
42 | chr12:21531187-21531237 | Jurkat | blood: | n/a |
43 | chr12:21525662-21525712 | AoSMC | blood vessel: | n/a |
44 | chr12:21531187-21531237 | GM06990 | blood: | n/a |
45 | chr12:21531187-21531237 | K562 | blood: | n/a |
46 | chr12:21531187-21531237 | RPTEC | kidney: | n/a |
47 | chr12:21525662-21525712 | SKMC | muscle: | n/a |
48 | chr12:21531187-21531237 | BJ | skin: | n/a |
49 | chr12:21525662-21525712 | GM12891 | blood: | n/a |
50 | chr12:21525662-21525712 | AG10803 | skin: | n/a |
(count:5 , 50 per page) page:
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr12:21526840..21530031-chr12:21536800..21540438,4 | K562 | blood: | |
2 | chr12:21527361..21529300-chr12:21544200..21546826,2 | K562 | blood: | |
3 | chr12:21526910..21529766-chr12:21530369..21533433,3 | K562 | blood: | |
4 | chr12:21526910..21529766-chr12:21530369..21533433,3 | K562 | blood: | |
5 | chr12:21528193..21534017-chr12:21534075..21538760,6 | K562 | blood: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
IAPP | TF binding region |
IAPP | CpG island |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs11836625 | chr12:21525704-21525705 | Weak transcription Active TSS | CpG island | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
2 | rs534882694 | chr12:21525761-21525762 | Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
3 | rs185132853 | chr12:21525832-21525833 | Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
4 | rs63160660 | chr12:21525835-21525836 | Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
5 | rs372824285 | chr12:21525873-21525874 | Weak transcription Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
6 | rs576779586 | chr12:21525880-21525881 | Weak transcription Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
7 | rs547030424 | chr12:21525895-21525896 | Weak transcription Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
8 | rs539458547 | chr12:21525896-21525897 | Weak transcription Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
9 | rs560483866 | chr12:21525919-21525920 | Weak transcription Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
10 | rs556230207 | chr12:21525922-21525923 | Weak transcription Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
11 | rs190919458 | chr12:21525926-21525927 | Weak transcription Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
12 | rs5482 | chr12:21525985-21525986 | Weak transcription Active TSS | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
13 | rs562344252 | chr12:21525989-21525990 | Weak transcription Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
14 | rs572570708 | chr12:21526047-21526048 | Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
15 | rs112110255 | chr12:21526079-21526080 | Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
16 | rs5483 | chr12:21526144-21526145 | Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
17 | rs187219952 | chr12:21526166-21526167 | Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
18 | rs543728957 | chr12:21526167-21526168 | Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
19 | rs35351862 | chr12:21526177-21526178 | Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
20 | rs191747696 | chr12:21526216-21526217 | Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
21 | rs112357636 | chr12:21526282-21526283 | Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
22 | rs557866734 | chr12:21526289-21526290 | Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
23 | rs145555931 | chr12:21526294-21526295 | Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
24 | rs202231303 | chr12:21526297-21526298 | Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
25 | rs374152437 | chr12:21526302-21526303 | Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
26 | rs200933325 | chr12:21526305-21526306 | Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
27 | rs373616376 | chr12:21526322-21526323 | Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
28 | rs548820504 | chr12:21526334-21526335 | Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
29 | rs62871062 | chr12:21526351-21526352 | Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
30 | rs138036034 | chr12:21526367-21526368 | Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
31 | rs190313195 | chr12:21526368-21526369 | Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
32 | rs372384041 | chr12:21526374-21526375 | Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
33 | rs377231142 | chr12:21526383-21526384 | Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
34 | rs376022719 | chr12:21526412-21526413 | Weak transcription Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
35 | rs41275208 | chr12:21526443-21526444 | Weak transcription Enhancers Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
36 | rs571249008 | chr12:21526465-21526466 | Weak transcription Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
37 | rs539446488 | chr12:21526470-21526471 | Weak transcription Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
38 | rs12306121 | chr12:21526472-21526473 | Weak transcription Enhancers Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
39 | rs576447605 | chr12:21526585-21526586 | Weak transcription Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
40 | rs182577227 | chr12:21526603-21526604 | Weak transcription Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
41 | rs12319824 | chr12:21526651-21526652 | Weak transcription Enhancers Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
42 | rs567801214 | chr12:21526668-21526669 | Weak transcription Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
43 | rs34689309 | chr12:21526669-21526670 | Weak transcription Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
44 | rs572557497 | chr12:21526673-21526674 | Weak transcription Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
45 | rs187611567 | chr12:21526684-21526685 | Weak transcription Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
46 | rs12306305 | chr12:21526738-21526739 | Weak transcription Enhancers Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
47 | rs80027755 | chr12:21526844-21526845 | Weak transcription Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
48 | rs79763303 | chr12:21526847-21526848 | Weak transcription Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
49 | rs75014615 | chr12:21526848-21526849 | Weak transcription Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
50 | rs578256727 | chr12:21526874-21526875 | Weak transcription Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Malignant germ cell tumour | 17285132 | CNVD |
Acute lymphoblastic leukemia | 17690704 | CNVD |
Melanoma | 18172304 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Myxofibrosarcoma | 16751306 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Wilms tumour | 21544195 | CNVD |
Squamous cell cancer | 21044232 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
T-cell acute lymphoblastic leukemia | 20065082 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Colorectal cancer | 20709793 | CNVD |
Breast cancer | 21264507 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Cancer | 16751803 | CNVD |
Testicular cancer | 18059402 | CNVD |
Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
Seminomas | 18059402 | CNVD |
Esophageal cancer | 21851588 | CNVD |
Lung cancer | 20668451 | CNVD |
Breast cancer | 20668451 | CNVD |
Cancer | 20668451 | CNVD |
Ovarian cancer | 20668451 | CNVD |
Pancreas cancer | 20668451 | CNVD |
Prostate cancer | 20668451 | CNVD |
Testicular germ cell tumor | 18059402 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Malaria | 21533027 | CNVD |
Chronic lymphocytic leukemia | 22228453 | CNVD |
Basal cell lymphoma | 17053054 | CNVD |
Chronic lymphocytic leukemia | 21670202 | CNVD |
Acute lymphoblastic leukemia | 21248843 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Acute lymphoblastic leukemia | 21339820 | CNVD |
Breast cancer | 21858162 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Myelodysplastic syndrome | 21251322 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Autism | 22495311 | CNVD |
Cancer | 20164919 | CNVD |
Acute promyelocytic leukemia | 19109227 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
Acute lymphoblastic leukemia | 21098271 | CNVD |
Breast cancer | 17133270 | CNVD |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
Ependymoma | 18628472 | CNVD |
Leukemia | 18628472 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Breast cancer | 16397240 | CNVD |
Neurodevelopmental disorder | 22521361 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Breast cancer | 21364760 | CNVD |
Intracranial aneurysm | 16715129 | CNVD |
Breast cancer | 21509527 | CNVD |
Autism | 22102821 | CNVD |
Follicular lymphoma | 18703704 | CNVD |
Lung cancer | 18438408 | CNVD |
Melanoma | 17363583 | CNVD |
Multiple myeloma | 17550852 | CNVD |
Lung cancer | 21911935 | CNVD |
Breast cancer | 22048815 | CNVD |
Malignant peripheral nerve sheath tumor | 19844265 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Breast cancer | 16272173 | CNVD |
Acute lymphoblastic leukemia | 21390130 | CNVD |
Heart disease | 21282601 | CNVD |
Ovarian cancer | 20844748 | CNVD |
Lung cancer | 17925434 | CNVD |
Non-small cell lung cancer | 21829676 | CNVD |
Ovarian neoplasms | 16753589 | CNVD |
Barrett''s adenocarcinoma | 18663352 | CNVD |
Gastric cancer | 24379144 | CNVD |
Gastric cancer | 19545448 | CNVD |
Lung cancer | 20031968 | CNVD |
Lung adenocarcinoma | 19525976 | CNVD |
Lung adenocarcinoma | 19826477 | CNVD |
Lung cancer | 19525976 | CNVD |
Lung cancer | 19826477 | CNVD |
Non-small cell lung cancer | 19451690 | CNVD |
Non-small cell lung cancer | 17504988 | CNVD |
Bipolar disorder | 19114987 | CNVD |
Lung cancer | 19671679 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Breast cancer | 22522925 | CNVD |
Amyotrophic lateral sclerosis | 20685689 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr12:21520600-21529200 | Weak transcription | HUES48 Cell Line | embryonic stem cell |
2 | chr12:21521200-21526400 | Weak transcription | iPS-18 Cell Line | embryonic stem cell |
3 | chr12:21525400-21531400 | Active TSS | Pancreatic Islets | Pancreatic Islet |
4 | chr12:21526400-21527400 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
5 | chr12:21526800-21527400 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
6 | chr12:21527400-21532200 | Weak transcription | iPS-18 Cell Line | embryonic stem cell |
7 | chr12:21528800-21529400 | Bivalent Enhancer | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
8 | chr12:21529200-21529400 | Enhancers | HUES48 Cell Line | embryonic stem cell |
9 | chr12:21531400-21532200 | Weak transcription | Pancreatic Islets | Pancreatic Islet |