Variant report
Variant | nsv613322 |
---|---|
Chromosome Location | chr9:9790222-9805134 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:297)
- CpG islands (count:0)
- Chromatin interactive region (count:4)
- LncRNA region (count:3)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | ARID3A | chr9:9790306-9790512 | HepG2 | liver: | n/a | n/a |
2 | BHLHE40 | chr9:9790315-9790593 | GM12878 | blood: | n/a | n/a |
3 | BRCA1 | chr9:9790311-9790476 | HepG2 | liver: | n/a | n/a |
4 | CTCF | chr9:9790372-9790450 | NHEK | skin: | n/a | n/a |
5 | CTCF | chr9:9791623-9792177 | SK-N-SH | brain: | n/a | chr9:9791839-9791860 chr9:9791844-9791862 |
6 | CTCF | chr9:9790281-9790523 | ECC-1 | luminal epithelium: | n/a | chr9:9790450-9790458 |
7 | CTCF | chr9:9790400-9790497 | MCF-7 | breast: | n/a | chr9:9790450-9790458 |
8 | CTCF | chr9:9790340-9790490 | GM12864 | blood: | n/a | chr9:9790450-9790458 |
9 | CTCF | chr9:9790360-9790510 | GM12870 | blood: | n/a | chr9:9790450-9790458 |
10 | CTCF | chr9:9790420-9790570 | HEEpiC | esophagus: | n/a | chr9:9790450-9790458 |
11 | CTCF | chr9:9791720-9791870 | HUVEC | blood vessel: | n/a | chr9:9791839-9791860 chr9:9791844-9791862 |
12 | CTCF | chr9:9790380-9790530 | K562 | blood: | n/a | chr9:9790450-9790458 |
13 | CTCF | chr9:9790320-9790521 | HepG2 | liver: | n/a | chr9:9790450-9790458 |
14 | CTCF | chr9:9791786-9791905 | Kidney_OC | kidney: | n/a | chr9:9791839-9791860 chr9:9791844-9791862 |
15 | CTCF | chr9:9791780-9791930 | NHEK | skin: | n/a | chr9:9791839-9791860 chr9:9791844-9791862 |
16 | CTCF | chr9:9790400-9790550 | HUVEC | blood vessel: | n/a | chr9:9790450-9790458 |
17 | CTCF | chr9:9790337-9790583 | Pancreas_OC | pancreas: | n/a | chr9:9790450-9790458 |
18 | CTCF | chr9:9790380-9790530 | GM12875 | blood: | n/a | chr9:9790450-9790458 |
19 | CTCF | chr9:9790400-9790550 | HCPEpiC | choroid plexus: | n/a | chr9:9790450-9790458 |
20 | CTCF | chr9:9790285-9790614 | K562 | blood: | n/a | chr9:9790450-9790458 |
21 | CTCF | chr9:9790400-9790550 | HA-sp | spinal cord: | n/a | chr9:9790450-9790458 |
22 | CTCF | chr9:9791742-9791962 | Medullo | brain: | n/a | chr9:9791839-9791860 chr9:9791844-9791862 |
23 | CTCF | chr9:9790380-9790530 | SAEC | small airway: | n/a | chr9:9790450-9790458 |
24 | CTCF | chr9:9790380-9790530 | HCFaa | heart: | n/a | chr9:9790450-9790458 |
25 | CTCF | chr9:9790380-9790530 | GM12871 | blood: | n/a | chr9:9790450-9790458 |
26 | CTCF | chr9:9790365-9790542 | K562 | blood: | n/a | chr9:9790450-9790458 |
27 | CTCF | chr9:9790360-9790510 | HRPEpiC | eye: | n/a | chr9:9790450-9790458 |
28 | CTCF | chr9:9790323-9790494 | A549 | lung: | n/a | chr9:9790450-9790458 |
29 | CTCF | chr9:9790278-9790620 | MCF-7 | breast: | n/a | chr9:9790450-9790458 |
30 | CTCF | chr9:9790331-9790573 | GM13977 | blood: | n/a | chr9:9790450-9790458 |
31 | CTCF | chr9:9790360-9790510 | NHLF | lung: | n/a | chr9:9790450-9790458 |
32 | CTCF | chr9:9790370-9790476 | ProgFib | skin: | n/a | chr9:9790450-9790458 |
33 | CTCF | chr9:9790340-9790561 | GM10248 | blood: | n/a | chr9:9790450-9790458 |
34 | CTCF | chr9:9790400-9790550 | GM12865 | blood: | n/a | chr9:9790450-9790458 |
35 | CTCF | chr9:9791860-9792010 | HepG2 | liver: | n/a | n/a |
36 | CTCF | chr9:9790320-9790470 | K562 | blood: | n/a | chr9:9790450-9790458 |
37 | CTCF | chr9:9790346-9790563 | Lung_OC | lung: | n/a | chr9:9790450-9790458 |
38 | CTCF | chr9:9791620-9791770 | GM06990 | blood: | n/a | n/a |
39 | CTCF | chr9:9790380-9790530 | AG10803 | skin: | n/a | chr9:9790450-9790458 |
40 | CTCF | chr9:9791760-9791910 | HMEC | breast: | n/a | chr9:9791839-9791860 chr9:9791844-9791862 |
41 | CTCF | chr9:9791760-9791910 | HUVEC | blood vessel: | n/a | chr9:9791839-9791860 chr9:9791844-9791862 |
42 | CTCF | chr9:9790340-9790490 | HCM | heart: | n/a | chr9:9790450-9790458 |
43 | CTCF | chr9:9790380-9790530 | BJ | skin: | n/a | chr9:9790450-9790458 |
44 | CTCF | chr9:9790380-9790530 | GM12878 | blood: | n/a | chr9:9790450-9790458 |
45 | CTCF | chr9:9790342-9790449 | GM12892 | blood: | n/a | n/a |
46 | CTCF | chr9:9790380-9790530 | GM12865 | blood: | n/a | chr9:9790450-9790458 |
47 | CTCF | chr9:9791727-9791967 | HUVEC | blood vessel: | n/a | chr9:9791839-9791860 chr9:9791844-9791862 |
48 | CTCF | chr9:9790400-9790550 | BE2_C | brain: | n/a | chr9:9790450-9790458 |
49 | CTCF | chr9:9791827-9791882 | GM10248 | blood: | n/a | chr9:9791839-9791860 chr9:9791844-9791862 |
50 | CTCF | chr9:9790327-9790569 | LNCaP | prostate: | n/a | chr9:9790450-9790458 |
No data |
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-KDM4C-10 | chr9:9800546-9800674 | ENSG00000230920 |
2 | lnc-KDM4C-10 | chr9:9799423-9799608 | ENSG00000230920 |
3 | lnc-KDM4C-10 | chr9:9803717-9803784 | ENSG00000230920 |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000230920 | TF binding region |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs1174590 | chr9:9790222-9790223 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
2 | rs549904277 | chr9:9790235-9790236 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs2147070 | chr9:9790306-9790307 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
4 | rs535281264 | chr9:9790307-9790308 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs201425982 | chr9:9790310-9790311 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs534175568 | chr9:9790342-9790343 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs2025393 | chr9:9790346-9790347 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
8 | rs2761733 | chr9:9790379-9790380 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
9 | rs546203643 | chr9:9790383-9790384 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs188850500 | chr9:9790399-9790400 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs115736576 | chr9:9791413-9791414 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs114185487 | chr9:9791416-9791417 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs181354305 | chr9:9791417-9791418 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs145357989 | chr9:9791444-9791445 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs541004973 | chr9:9791447-9791448 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs147737163 | chr9:9791495-9791496 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs536300521 | chr9:9791515-9791516 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs563941860 | chr9:9791518-9791519 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs12554613 | chr9:9791522-9791523 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs566891171 | chr9:9791527-9791528 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs185812557 | chr9:9791532-9791533 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs533224494 | chr9:9791543-9791544 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs539219258 | chr9:9791603-9791604 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs559222858 | chr9:9791608-9791609 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs570174196 | chr9:9791610-9791611 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs146912107 | chr9:9791635-9791636 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs544931305 | chr9:9791640-9791641 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs556638711 | chr9:9791652-9791653 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs113197358 | chr9:9791677-9791678 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs573580420 | chr9:9791682-9791683 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs542300613 | chr9:9791699-9791700 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs190575372 | chr9:9791700-9791701 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs528204393 | chr9:9791707-9791708 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs371424177 | chr9:9791746-9791747 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs183181877 | chr9:9791784-9791785 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs544779240 | chr9:9791785-9791786 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs71497157 | chr9:9791788-9791789 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
38 | rs16930328 | chr9:9791791-9791792 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
39 | rs76596917 | chr9:9791799-9791800 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
40 | rs549809441 | chr9:9791810-9791811 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
41 | rs115081328 | chr9:9791881-9791882 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
42 | rs550462799 | chr9:9791925-9791926 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
43 | rs569656649 | chr9:9791952-9791953 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
44 | rs138884765 | chr9:9791964-9791965 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
45 | rs188764787 | chr9:9791982-9791983 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
46 | rs546710369 | chr9:9791999-9792000 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
47 | rs566934940 | chr9:9792029-9792030 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
48 | rs192327044 | chr9:9792065-9792066 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
49 | rs552770450 | chr9:9792075-9792076 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
50 | rs569478053 | chr9:9792095-9792096 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
abnormal development | 18461090 | CNVD |
Disorders of sex development | 21048976 | CNVD |
Honadal dysgenesis | 21048976 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Lung cancer | 16740712 | CNVD |
Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
Basal cell lymphoma | 17170743 | CNVD |
Follicular lymphoma | 17170743 | CNVD |
Oral squamous cell carcinoma | 17134496 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Breast cancer | 16608533 | CNVD |
Hodgkin''s lymphoma | 18641027 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Breast cancer | 16272173 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Breast cancer | 17133270 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Cervical cancer | 21063398 | CNVD |
Retinoblastoma | 22278416 | CNVD |
Splenic marginal zone lymphoma | 18492102 | CNVD |
Melanoma | 18172304 | CNVD |
Biliary cancer | 19435499 | CNVD |
Gastric cancer | 21586687 | CNVD |
Esophageal squamous carcinoma | 18350619 | CNVD |
Myopathy | 18421352 | CNVD |
Neuroblastoma | 18664255 | CNVD |
Acute lymphoblastic leukemia | 18957548 | CNVD |
Myeloproliferative neoplasm | 17564968 | CNVD |
Malignant meningioma | 17937814 | CNVD |
Glioma | 21971842 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
Astrocytoma | 17387387 | CNVD |
Breast cancer | 17603634 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Breast cancer | 21264507 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Glioblastoma multiforme | 17387387 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Oligodendroglial tumors | 17285580 | CNVD |
Cutaneous squamous cell carcinomas | 19131950 | CNVD |
Small bowel adenocarcinoma | 21586687 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Chordoma | 18071362 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Chordoma | 21602918 | CNVD |
Renal cell carcinoma | 18592004 | CNVD |
Developmental delay | 19490664 | CNVD |
Pleomorphic xanthoastrocytoma | 20730472 | CNVD |
microdeletion syndrome | 16199537 | CNVD |
Non-syndromic sensorineural hearing loss | 21987784 | CNVD |
Cancer | 20164919 | CNVD |
Chronic myeloid leukemia | 21384125 | CNVD |
Ovarian cancer | 21720365 | CNVD |
Non-syndromic sensorineural hearing loss | 21030649 | CNVD |
small cell lung cancer | 20016488 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Lung cancer | 18438408 | CNVD |
XY gonadal dysgenesis | 20685758 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Oral cancer | 21386901 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Acute lymphoblastic leukemia | 21339820 | CNVD |
Intellectual disability | 22102821 | CNVD |
Breast cancer | 21785460 | CNVD |
Esophageal adenocarcinoma | 19417022 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Breast cancer | 21858162 | CNVD |
Renal cell carcinoma | 21668985 | CNVD |
Myelodysplastic syndrome | 21251322 | CNVD |
Autism | 22495311 | CNVD |
Hepatocellular carcinoma | 18803288 | CNVD |
Breast cancer | 21364760 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Glioblastoma | 19074898 | CNVD |
Malignant melanoma | 19074898 | CNVD |
Prostate cancer | 16573809 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Ovarian clear cell carcinoma | 21343371 | CNVD |
Cancer | 20164920 | CNVD |
Lung cancer | 20668451 | CNVD |
Schizophrenia | 20838587 | CNVD |
Glioblastoma | 18772890 | CNVD |
Glioblastoma multiforme | 21390271 | CNVD |
Breast cancer | 20668451 | CNVD |
Cancer | 20668451 | CNVD |
Ovarian cancer | 20668451 | CNVD |
Pancreas cancer | 20668451 | CNVD |
Prostate cancer | 20668451 | CNVD |
Autism | 20858261 | CNVD |
Epilepsy | 20858261 | CNVD |
Mental retardation | 20858261 | CNVD |
Developmental delay | 21147756 | CNVD |
small cell lung cancer | 21764851 | CNVD |
Glioblastoma multiforme | 22286061 | CNVD |
Glioma | 17123091 | CNVD |
Lung cancer | 16773561 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Esophageal squamous carcinoma | 18405350 | CNVD |
Gastric cancer | 16891809 | CNVD |
Mental retardation | 17847001 | CNVD |
Cutaneous squamous cell carcinomas | 17420988 | CNVD |
Acute lymphoblastic leukemia | 21390130 | CNVD |
Pilocytic astrocytoma | 18670637 | CNVD |
Acute lymphoblastic leukemia | 17690704 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
Lung adenocarcinoma | 17982442 | CNVD |
Breast cancer | 21611746 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr9:9790000-9790400 | Enhancers | Dnd41 | blood |
2 | chr9:9790200-9790400 | Enhancers | Liver | Liver |
3 | chr9:9791400-9793000 | Enhancers | Primary B cells from cord blood | blood |
4 | chr9:9792000-9792600 | Enhancers | Primary hematopoietic stem cells | blood |
5 | chr9:9792000-9792600 | Enhancers | Primary hematopoietic stem cells short term culture | blood |
6 | chr9:9792000-9792600 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Female | -- |
7 | chr9:9792200-9792800 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
8 | chr9:9799400-9799800 | Enhancers | HUES64 Cell Line | embryonic stem cell |
9 | chr9:9799400-9799800 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
10 | chr9:9799400-9800800 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
11 | chr9:9799400-9801400 | Enhancers | HUES48 Cell Line | embryonic stem cell |
12 | chr9:9799600-9799800 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
13 | chr9:9799800-9800600 | Weak transcription | iPS-18 Cell Line | embryonic stem cell |
14 | chr9:9799800-9800800 | Weak transcription | HUES64 Cell Line | embryonic stem cell |
15 | chr9:9799800-9801000 | Weak transcription | iPS-15b Cell Line | embryonic stem cell |
16 | chr9:9800600-9801600 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
17 | chr9:9800800-9801600 | Enhancers | HUES64 Cell Line | embryonic stem cell |
18 | chr9:9801000-9801600 | Enhancers | iPS-15b Cell Line | embryonic stem cell |