Variant report
Variant | esv2652286 |
---|---|
Chromosome Location | chr17:16880234-16880234 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:34)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:1)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:34 , 50 per page) page:
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No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | BHLHE40 | chr17:16878364-16880280 | GM12878 | blood: | n/a | n/a |
2 | CHD1 | chr17:16878240-16880652 | GM12878 | blood: | n/a | n/a |
3 | CTCF | chr17:16880224-16880292 | GM12878 | blood: | n/a | n/a |
4 | CTCF | chr17:16880140-16880290 | HCFaa | heart: | n/a | n/a |
5 | CTCF | chr17:16880160-16880310 | HMF | breast: | n/a | n/a |
6 | CTCF | chr17:16880100-16880250 | GM12878 | blood: | n/a | n/a |
7 | CTCF | chr17:16880220-16880370 | HCT-116 | colon: | n/a | n/a |
8 | EBF1 | chr17:16878282-16880926 | GM12878 | blood: | n/a | chr17:16879702-16879713 |
9 | EP300 | chr17:16878390-16880675 | GM12878 | blood: | n/a | chr17:16879297-16879311 chr17:16879298-16879312 |
10 | EP300 | chr17:16878282-16880413 | GM12878 | blood: | n/a | chr17:16879297-16879311 chr17:16879298-16879312 |
11 | FOXM1 | chr17:16878248-16880298 | GM12878 | blood: | n/a | n/a |
12 | MAX | chr17:16879145-16880773 | GM12878 | blood: | n/a | n/a |
13 | MTA3 | chr17:16878127-16880599 | GM12878 | blood: | n/a | n/a |
14 | MTA3 | chr17:16878010-16881023 | GM12878 | blood: | n/a | n/a |
15 | MXI1 | chr17:16878465-16880743 | GM12878 | blood: | n/a | n/a |
16 | NFIC | chr17:16878245-16880801 | GM12878 | blood: | n/a | n/a |
17 | POLR2A | chr17:16878230-16880821 | GM12878 | blood: | n/a | n/a |
18 | POLR2A | chr17:16877924-16880892 | GM12892 | blood: | n/a | n/a |
19 | POLR2A | chr17:16878617-16880545 | GM12878 | blood: | n/a | n/a |
20 | POLR2A | chr17:16878056-16880305 | GM12892 | blood: | n/a | n/a |
21 | POLR2A | chr17:16878342-16880680 | GM18505 | blood: | n/a | n/a |
22 | POLR2A | chr17:16878086-16880910 | GM12892 | blood: | n/a | n/a |
23 | POLR2A | chr17:16878062-16880885 | GM12878 | blood: | n/a | n/a |
24 | POLR2A | chr17:16878302-16880573 | GM12891 | blood: | n/a | n/a |
25 | RCOR1 | chr17:16878383-16880321 | GM12878 | blood: | n/a | n/a |
26 | RELA | chr17:16878366-16880312 | GM12878 | blood: | n/a | n/a |
27 | SMC3 | chr17:16880152-16880437 | GM12878 | blood: | n/a | n/a |
28 | STAT3 | chr17:16878466-16880603 | GM12878 | blood: | n/a | chr17:16879276-16879288 chr17:16879889-16879900 |
29 | STAT5A | chr17:16877948-16880337 | GM12878 | blood: | n/a | chr17:16879276-16879288 chr17:16878439-16878451 |
30 | TBL1XR1 | chr17:16878505-16880241 | GM12878 | blood: | n/a | n/a |
31 | TBP | chr17:16878380-16880770 | GM12878 | blood: | n/a | n/a |
32 | WRNIP1 | chr17:16880092-16880769 | GM12878 | blood: | n/a | n/a |
33 | YY1 | chr17:16880048-16880324 | GM12878 | blood: | n/a | n/a |
34 | ZNF384 | chr17:16880196-16880624 | GM12878 | blood: | n/a | n/a |
No data |
No data |
(count:1 , 50 per page) page:
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-TNFRSF13B-1 | chr17:16879313-16880944 | ENSG00000230709 |
No data |
No data |
Variant related genes | Relation type |
---|---|
TNFRSF13B | TF binding region |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs67190389 | chr17:16880234-16880235 | Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer | TF binding regionlncRNA | 1 gene(s) | 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 |
Breast cancer | 21509527 | CNVD |
Ductal carcinoma | 22052326 | CNVD |
Non-syndromic sensorineural hearing loss | 18496225 | CNVD |
Multiple myeloma | 17550852 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr17:16867400-16883800 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
2 | chr17:16873000-16880800 | Enhancers | Fetal Thymus | thymus |
3 | chr17:16875200-16885800 | Enhancers | Primary B cells from cord blood | blood |
4 | chr17:16875800-16887200 | Enhancers | Primary B cells from peripheral blood | blood |
5 | chr17:16878000-16882800 | Flanking Active TSS | GM12878-XiMat | blood |
6 | chr17:16878400-16880600 | Enhancers | Primary T regulatory cells fromperipheralblood | blood |
7 | chr17:16878400-16883600 | Weak transcription | Primary Natural Killer cells fromperipheralblood | blood |
8 | chr17:16878600-16881600 | Weak transcription | Rectal Mucosa Donor 29 | rectum |
9 | chr17:16878800-16884200 | Weak transcription | Rectal Mucosa Donor 31 | rectum |
10 | chr17:16879600-16880400 | Enhancers | Primary T helper memory cells from peripheral blood 2 | blood |
11 | chr17:16879600-16880400 | Bivalent Enhancer | HUVEC | blood vessel |
12 | chr17:16879600-16880800 | Enhancers | H1 Derived Mesenchymal Stem Cells | ES cell derived |
13 | chr17:16879600-16880800 | Enhancers | Primary mononuclear cells fromperipheralblood | Blood |
14 | chr17:16879800-16881400 | Weak transcription | hESC Derived CD56+ Mesoderm Cultured Cells | ES cell derived |
15 | chr17:16880000-16880400 | Enhancers | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
16 | chr17:16880000-16880800 | Flanking Active TSS | Dnd41 | blood |
17 | chr17:16880200-16880400 | Active TSS | Fetal Heart | heart |
18 | chr17:16880200-16880600 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
19 | chr17:16880200-16881000 | Weak transcription | NH-A | brain |
20 | chr17:16880200-16881400 | Weak transcription | IMR90 fetal lung fibroblasts Cell Line | lung |