Variant report
Variant | nsv519288 |
---|---|
Chromosome Location | chr6:29545715-29559295 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:276)
- CpG islands (count:1221)
- Chromatin interactive region (count:13)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr6:29550134-29550184 | BE2_C | brain: | n/a |
2 | chr6:29550134-29550184 | BE2_C | brain: | n/a |
3 | chr6:29556229-29556279 | AG10803 | skin: | n/a |
4 | chr6:29549724-29549774 | HEEpiC | esophagus: | n/a |
5 | chr6:29554942-29554992 | ECC-1 | luminal epithelium: | n/a |
6 | chr6:29556229-29556279 | H1-hESC | embryonic stem cell: | embryo |
7 | chr6:29556084-29556134 | HCPEpiC | choroid plexus: | n/a |
8 | chr6:29550134-29550184 | MCF10A-Er-Src | breast: | n/a |
9 | chr6:29549724-29549774 | A549 | lung: | n/a |
10 | chr6:29549759-29549809 | HL-60 | blood: | n/a |
11 | chr6:29556084-29556134 | LNCaP | prostate: | n/a |
12 | chr6:29550134-29550184 | HL-60 | blood: | n/a |
13 | chr6:29556225-29556275 | NHDF-neo | bronchial: | n/a |
14 | chr6:29556271-29556321 | AG10803 | skin: | n/a |
15 | chr6:29548691-29548741 | HEK293 | kidney: | embryo |
16 | chr6:29555314-29555364 | CMK | blood: | n/a |
17 | chr6:29548535-29548585 | GM19239 | blood: | n/a |
18 | chr6:29556229-29556279 | HUVEC | blood vessel: | n/a |
19 | chr6:29556369-29556419 | U87 | brain: | n/a |
20 | chr6:29549352-29549402 | IMR90 | lung: | fetal |
21 | chr6:29550134-29550184 | MCF-7 | breast: | n/a |
22 | chr6:29555799-29555849 | HNPCEpiC | eye: | n/a |
23 | chr6:29556271-29556321 | Hepatocyte | liver: | n/a |
24 | chr6:29549180-29549230 | AG04450 | lung: | fetal |
25 | chr6:29548535-29548585 | HEEpiC | esophagus: | n/a |
26 | chr6:29555593-29555643 | IMR90 | lung: | fetal |
27 | chr6:29555314-29555364 | HRCEpiC | kidney: | n/a |
28 | chr6:29556369-29556419 | SK-N-SH_RA | brain: | n/a |
29 | chr6:29556229-29556279 | BJ | skin: | n/a |
30 | chr6:29555799-29555849 | SAEC | small airway: | n/a |
31 | chr6:29550425-29550475 | ProgFib | skin: | n/a |
32 | chr6:29549352-29549402 | PrEC | prostate: | n/a |
33 | chr6:29556369-29556419 | HL-60 | blood: | n/a |
34 | chr6:29549180-29549230 | Caco-2 | colon: | n/a |
35 | chr6:29555939-29555989 | NT2-D1 | testis: | n/a |
36 | chr6:29549147-29549197 | H1-hESC | embryonic stem cell: | embryo |
37 | chr6:29549352-29549402 | GM12878 | blood: | n/a |
38 | chr6:29549180-29549230 | HUVEC | blood vessel: | n/a |
39 | chr6:29550425-29550475 | HL-60 | blood: | n/a |
40 | chr6:29550425-29550475 | H1-hESC | embryonic stem cell: | embryo |
41 | chr6:29556225-29556275 | NHBE | bronchial: | n/a |
42 | chr6:29555799-29555849 | SKMC | muscle: | n/a |
43 | chr6:29550425-29550475 | AG04450 | lung: | fetal |
44 | chr6:29549724-29549774 | H1-hESC | embryonic stem cell: | embryo |
45 | chr6:29556271-29556321 | U87 | brain: | n/a |
46 | chr6:29556271-29556321 | AG09319 | gingival: | n/a |
47 | chr6:29549147-29549197 | ProgFib | skin: | n/a |
48 | chr6:29550134-29550184 | PrEC | prostate: | n/a |
49 | chr6:29549724-29549774 | AG09319 | gingival: | n/a |
50 | chr6:29556369-29556419 | ovcar-3 | ovarian: | n/a |
(count:13 , 50 per page) page:
1
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr6:29394208..29394759-chr6:29557255..29557773,2 | MCF-7 | breast: | |
2 | chr6:29343942..29344473-chr6:29556992..29557505,2 | MCF-7 | breast: | |
3 | chr6:29551592..29553541-chr6:29558130..29559886,2 | K562 | blood: | |
4 | chr6:29392820..29393460-chr6:29557045..29557755,2 | MCF-7 | breast: | |
5 | chr6:29556939..29558806-chr6:29563836..29566834,2 | K562 | blood: | |
6 | chr6:29394178..29395019-chr6:29556973..29557853,2 | MCF-7 | breast: | |
7 | chr6:29343538..29344515-chr6:29556985..29557870,6 | MCF-7 | breast: | |
8 | chr6:29382100..29382616-chr6:29556898..29557418,2 | MCF-7 | breast: | |
9 | chr6:29382118..29383047-chr6:29556881..29557810,6 | MCF-7 | breast: | |
10 | chr6:29542932..29546952-chr6:29547558..29549945,4 | K562 | blood: | |
11 | chr6:29539648..29541471-chr6:29551859..29553788,2 | MCF-7 | breast: | |
12 | chr6:28654200..28654700-chr6:29556957..29557918,2 | K562 | blood: | |
13 | chr6:29551592..29553541-chr6:29558130..29559886,2 | K562 | blood: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
RPL13AP | TF binding region |
SNORD32B | TF binding region |
OR2H2 | TF binding region |
RPL13AP | CpG island |
SNORD32B | CpG island |
OR2H2 | CpG island |
ENSG00000227609 | chromatin interactions |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs1233397 | chr6:29545715-29545716 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
2 | rs146700218 | chr6:29545721-29545722 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs556994944 | chr6:29545826-29545827 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs575449135 | chr6:29545932-29545933 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs576046024 | chr6:29546000-29546001 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs28986296 | chr6:29546004-29546005 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
7 | rs182728988 | chr6:29546007-29546008 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs188153128 | chr6:29546029-29546030 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs540385194 | chr6:29546090-29546091 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs6922798 | chr6:29546229-29546230 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
11 | rs140303648 | chr6:29546251-29546252 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs143542153 | chr6:29546280-29546281 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs192332543 | chr6:29546323-29546324 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs531511685 | chr6:29546327-29546328 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs373289874 | chr6:29546336-29546337 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs541379916 | chr6:29546361-29546362 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs184287319 | chr6:29546407-29546408 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs527348381 | chr6:29546489-29546490 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs539890833 | chr6:29546537-29546538 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs187569350 | chr6:29546561-29546562 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs192699778 | chr6:29546568-29546569 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs532585093 | chr6:29546583-29546584 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs148044727 | chr6:29546683-29546684 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs141785205 | chr6:29546714-29546715 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs184628180 | chr6:29546841-29546842 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs78714082 | chr6:29546858-29546859 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs554967362 | chr6:29546865-29546866 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs568346546 | chr6:29546875-29546876 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs4568477 | chr6:29546912-29546913 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs534225970 | chr6:29546932-29546933 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs553970693 | chr6:29546940-29546941 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs150167182 | chr6:29546943-29546944 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs138988689 | chr6:29547013-29547014 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs562538757 | chr6:29547037-29547038 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs541738755 | chr6:29547052-29547053 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs543015773 | chr6:29547063-29547064 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs181431243 | chr6:29547071-29547072 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs370349943 | chr6:29547174-29547175 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs527272878 | chr6:29547262-29547263 | Weak transcription | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
40 | rs61584954 | chr6:29547264-29547265 | Weak transcription | TF binding region | 2 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
41 | rs183986855 | chr6:29547294-29547295 | Weak transcription | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
42 | rs533047562 | chr6:29547360-29547361 | Weak transcription | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
43 | rs552774561 | chr6:29547383-29547384 | Weak transcription | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
44 | rs113663086 | chr6:29547465-29547466 | Weak transcription | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
45 | rs372830244 | chr6:29547540-29547541 | Weak transcription | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
46 | rs61052886 | chr6:29547543-29547544 | Weak transcription | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
47 | rs139955897 | chr6:29547593-29547594 | Weak transcription | TF binding regionChromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
48 | rs568781373 | chr6:29547604-29547605 | Weak transcription | TF binding regionChromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
49 | rs533931141 | chr6:29547675-29547676 | Weak transcription | TF binding regionChromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
50 | rs189681662 | chr6:29547763-29547764 | Weak transcription | TF binding regionChromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Acute lymphoblastic leukemia | 22237106 | CNVD |
Follicular lymphoma | 20505157 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Leukemia | 21518781 | CNVD |
Cancer | 21637783 | CNVD |
Facial dysmorphism | 22105932 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
Diffuse large b-cell lymphoma | 18287131 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Breast cancer | 21264507 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Cancer | 16751803 | CNVD |
Bladder cancer | 19088036 | CNVD |
Wilms tumour | 21544195 | CNVD |
Uveal melanoma | 21693616 | CNVD |
Biliary cancer | 19435499 | CNVD |
Malaria | 21533027 | CNVD |
Retinoblastoma | 19183342 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Prostate cancer | 18632612 | CNVD |
Breast cancer | 21858162 | CNVD |
Lung cancer | 18438408 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Breast cancer | 20668451 | CNVD |
Cancer | 20668451 | CNVD |
Lung cancer | 20668451 | CNVD |
Ovarian cancer | 20668451 | CNVD |
Pancreas cancer | 20668451 | CNVD |
Prostate cancer | 20668451 | CNVD |
Gastric cancer | 16891809 | CNVD |
Ovarian cancer | 21781307 | CNVD |
Autism | 21448237 | CNVD |
Cancer | 20164919 | CNVD |
Melanoma | 18172304 | CNVD |
Breast cancer | 22844521 | CNVD |
HIV/AIDS | 22844521 | CNVD |
Ovarian cancer | 22844521 | CNVD |
Prostate cancer | 22844521 | CNVD |
Psoriasis | 22844521 | CNVD |
Rheumatoid arthritis | 22844521 | CNVD |
Sclerosis systemic | 22844521 | CNVD |
Systemic lupus erythematosus | 22844521 | CNVD |
Breast cancer | 22522925 | CNVD |
Breast cancer | 21552322 | CNVD |
Immune disease | 21076436 | CNVD |
Autoimmune disease | 19135723 | CNVD |
Systemic lupus erythematosus | 17953491 | CNVD |
Recurrent Infections | 22737222 | CNVD |
Systemic lupus erythematosus | 21904924 | CNVD |
Ependymoma | 19289631 | CNVD |
Gestational infection | 22844521 | CNVD |
Head circumference | 22844521 | CNVD |
Infertility | 22844521 | CNVD |
Recurrent birth weight diabetes | 22844521 | CNVD |
Obesity | 22844521 | CNVD |
Recurrent pregnancy loss | 22844521 | CNVD |
Intellectual disability | 21811512 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Congenital anomalies of the kidney and urinary tract | 18694510 | CNVD |
Nasopharyngeal cancer | 22815911 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Basal cell lymphoma | 21115979 | CNVD |
Acute lymphoblastic leukemia | 21339820 | CNVD |
Breast cancer | 17133270 | CNVD |
Autism | 22495311 | CNVD |
Cancer | 16790693 | CNVD |
Breast cancer | 22032731 | CNVD |
Cervical cancer | 21062161 | CNVD |
Breast cancer | 21785460 | CNVD |
Retinoblastoma | 16790693 | CNVD |
Esophageal adenocarcinoma | 18820669 | CNVD |
Systemic lupus erythematosus | 17503323 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
T-cell lymphomas | 19863542 | CNVD |
Urothelial carcinoma | 18382360 | CNVD |
Cancer | 21183584 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Renal cell carcinoma | 18765545 | CNVD |
Oral squamous cell carcinoma | 17134496 | CNVD |
Gastric cancer | 17908304 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Breast cancer | 16397240 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Splenic marginal zone lymphoma | 21957467 | CNVD |
Breast cancer | 21364760 | CNVD |
Schizophrenia | 19571809 | CNVD |
Schizophrenia | 19571808 | CNVD |
Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
Neuroblastoma | 16790693 | CNVD |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
abnormal development | 18461090 | CNVD |
Breast cancer | 21509527 | CNVD |
Melanoma | 17363583 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr6:29541200-29553200 | Weak transcription | H9 Cell Line | embryonic stem cell |
2 | chr6:29545400-29549800 | Weak transcription | Spleen | Spleen |
3 | chr6:29546000-29546200 | Enhancers | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
4 | chr6:29546000-29546600 | Enhancers | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
5 | chr6:29546000-29546600 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
6 | chr6:29546200-29546400 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
7 | chr6:29546200-29569400 | Weak transcription | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
8 | chr6:29549000-29549200 | Enhancers | HMEC | breast |
9 | chr6:29553200-29553400 | Enhancers | H9 Cell Line | embryonic stem cell |
10 | chr6:29553200-29553600 | Enhancers | Brain Hippocampus Middle | brain |
11 | chr6:29553600-29553800 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
12 | chr6:29553600-29554600 | Enhancers | HMEC | breast |
13 | chr6:29554400-29559800 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
14 | chr6:29554600-29556400 | Weak transcription | HMEC | breast |
15 | chr6:29558200-29558400 | Enhancers | GM12878-XiMat | blood |