Variant report
Variant | nsv608332 |
---|---|
Chromosome Location | chr7:121083616-121084861 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:4)
- CpG islands (count:0)
- Chromatin interactive region (count:6)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
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No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | CTCF | chr7:121084398-121084605 | K562 | blood: | n/a | n/a |
2 | FAM48A | chr7:121084393-121084552 | GM12878 | blood: | n/a | n/a |
3 | POLR2A | chr7:121083977-121084030 | HUVEC | blood vessel: | n/a | n/a |
4 | POLR2A | chr7:121084047-121084078 | HUVEC | blood vessel: | n/a | n/a |
No data |
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr7:121084590..121086129-chr7:121087840..121089417,2 | K562 | blood: | |
2 | chr7:121084438..121087093-chr7:121100657..121102565,2 | K562 | blood: | |
3 | chr7:121084429..121087093-chr7:121100657..121103964,3 | K562 | blood: | |
4 | chr7:121082938..121085924-chr7:121112606..121114729,2 | K562 | blood: | |
5 | chr7:121082501..121084474-chr7:121087406..121089640,2 | MCF-7 | breast: | |
6 | chr5:43040736..43042911-chr7:121084118..121086879,2 | MCF-7 | breast: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000234985 | TF binding region |
ENSG00000215068 | chromatin interactions |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs377511434 | chr7:121083628-121083629 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs74213679 | chr7:121083852-121083853 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs74212970 | chr7:121083881-121083882 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs74194727 | chr7:121083889-121083890 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs556398067 | chr7:121083903-121083904 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs74212827 | chr7:121083910-121083911 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs542014687 | chr7:121083915-121083916 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs74193255 | chr7:121083918-121083919 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs74202627 | chr7:121083939-121083940 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs67303703 | chr7:121083947-121083948 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
11 | rs116171174 | chr7:121083968-121083969 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs72499550 | chr7:121083989-121083990 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
13 | rs191125562 | chr7:121083994-121083995 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
14 | rs76361998 | chr7:121083995-121083996 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
15 | rs182539280 | chr7:121084001-121084002 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
16 | rs146329463 | chr7:121084006-121084007 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
17 | rs141336106 | chr7:121084019-121084020 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
18 | rs562726690 | chr7:121084021-121084022 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
19 | rs13237462 | chr7:121084029-121084030 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
20 | rs13224570 | chr7:121084039-121084040 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs188461190 | chr7:121084053-121084054 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
22 | rs201062248 | chr7:121084063-121084064 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
23 | rs13237689 | chr7:121084087-121084088 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
24 | rs375285851 | chr7:121084097-121084098 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs568282969 | chr7:121084109-121084110 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs13237795 | chr7:121084121-121084122 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
27 | rs372903494 | chr7:121084131-121084132 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
28 | rs547432573 | chr7:121084143-121084144 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
29 | rs13237809 | chr7:121084155-121084156 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
30 | rs71546708 | chr7:121084165-121084166 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
31 | rs62476187 | chr7:121084176-121084177 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
32 | rs13237821 | chr7:121084189-121084190 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
33 | rs185434233 | chr7:121084197-121084198 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
34 | rs374675627 | chr7:121084199-121084200 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
35 | rs13237707 | chr7:121084210-121084211 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
36 | rs188944530 | chr7:121084223-121084224 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
37 | rs13224842 | chr7:121084231-121084232 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
38 | rs572571566 | chr7:121084232-121084233 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
39 | rs372815817 | chr7:121084233-121084234 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
40 | rs13237717 | chr7:121084244-121084245 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
41 | rs13237720 | chr7:121084251-121084252 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
42 | rs71172123 | chr7:121084265-121084266 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
43 | rs578147867 | chr7:121084266-121084267 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
44 | rs73221344 | chr7:121084267-121084268 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
45 | rs66745493 | chr7:121084278-121084279 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
46 | rs73717335 | chr7:121084301-121084302 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
47 | rs192580151 | chr7:121084386-121084387 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
48 | rs184727563 | chr7:121084392-121084393 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
49 | rs561848340 | chr7:121084422-121084423 | Weak transcription | TF binding regionChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
50 | rs188310894 | chr7:121084428-121084429 | Weak transcription | TF binding regionChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Esophageal squamous carcinoma | 21637470 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Thyroid cancer | 19087340 | CNVD |
Seminomas | 18059402 | CNVD |
Testicular cancer | 18059402 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Autism | 19415332 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Pleomorphic xanthoastrocytoma | 20730472 | CNVD |
T-cell lymphomas | 19863542 | CNVD |
Malaria | 21533027 | CNVD |
Melanoma | 18172304 | CNVD |
Renal cell carcinoma | 19461508 | CNVD |
head and neck squamous cell carcinoma | 19289630 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Autism | 22495311 | CNVD |
Wilms tumour | 21544195 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Squamous cell cancer | 21044232 | CNVD |
Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
Astrocytoma | 17387387 | CNVD |
Glioblastoma multiforme | 17387387 | CNVD |
Low-grade fibromyxoid sarcoma | 0 | CNVD |
Oligodendroglial tumors | 17285580 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Burkitt''s lymphoma | 18698080 | CNVD |
Breast cancer | 21264507 | CNVD |
Shwachman-Diamond syndrome | 22934832 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Cutaneous malignant melanoma | 17690212 | CNVD |
Leukemia | 17361228 | CNVD |
Breast cancer | 16461572 | CNVD |
Peripheral t-cell lymphoma | 19118030 | CNVD |
Malignant melanoma | 17690212 | CNVD |
Renal cell carcinoma | 18592004 | CNVD |
Acute promyelocytic leukemia | 19109227 | CNVD |
Multiple myeloma | 17550852 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Neurodevelopmental disorder | 22521361 | CNVD |
abortions and stillbirths | 19751515 | CNVD |
Acute lymphoblastic leukemia | 21980252 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Lung cancer | 18438408 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Non-syndromic sensorineural hearing loss | 21987784 | CNVD |
Burkitt''s lymphoma | 19759907 | CNVD |
Myelodysplastic syndrome | 21251322 | CNVD |
Chronic myeloid leukemia | 21384125 | CNVD |
Breast cancer | 21858162 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
Prostate cancer | 16573809 | CNVD |
Medulloblastoma | 16783165 | CNVD |
Biliary cancer | 19435499 | CNVD |
Non-small cell lung cancer | 21829676 | CNVD |
Ovarian neoplasms | 16753589 | CNVD |
Prostate cancer | 23792589 | CNVD |
Adenocarcinoma | 21044232 | CNVD |
Splenic marginal zone lymphoma | 21957467 | CNVD |
Non-small cell lung cancer | 19889201 | CNVD |
Acute myeloid leukemia | 18000384 | CNVD |
Esophageal adenocarcinoma | 18820669 | CNVD |
Metastatic melanoma | 18483359 | CNVD |
Autism | 18414403 | CNVD |
Autism | 19401682 | CNVD |
Autism | 19546859 | CNVD |
Schizophrenia | 19546859 | CNVD |
Tourette syndrome | 19546859 | CNVD |
Melanoma | 19188590 | CNVD |
Glioblastoma multiforme | 21922591 | CNVD |
Hepatocellular carcinoma | 16785998 | CNVD |
Glioblastoma multiforme | 18628472 | CNVD |
Renal cell carcinoma | 18194544 | CNVD |
Basal cell lymphoma | 21115979 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Breast cancer | 21509527 | CNVD |
low-grade B-cell lymphoma tumor | 18367492 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Splenic marginal zone lymphoma | 18492102 | CNVD |
Barrett''s adenocarcinoma | 18663352 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr7:121078600-121086600 | Weak transcription | NHDF-Ad | bronchial |
2 | chr7:121078800-121087400 | Weak transcription | Foreskin Melanocyte Primary Cells skin03 | Skin |
3 | chr7:121079000-121095800 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
4 | chr7:121081200-121086600 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
5 | chr7:121081200-121088400 | Weak transcription | Left Ventricle | heart |
6 | chr7:121081400-121086600 | Weak transcription | Adipose Nuclei | Adipose |
7 | chr7:121081400-121088400 | Weak transcription | Placenta | Placenta |
8 | chr7:121081600-121086600 | Weak transcription | Rectal Smooth Muscle | rectum |
9 | chr7:121081800-121086200 | Weak transcription | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
10 | chr7:121083200-121084400 | Weak transcription | Lung | lung |
11 | chr7:121083200-121086600 | Weak transcription | NHEK | skin |
12 | chr7:121083200-121087600 | Weak transcription | Fetal Adrenal Gland | Adrenal Gland |