Variant report
Variant | nsv946399 |
---|---|
Chromosome Location | chr1:153431838-153438343 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:336)
- CpG islands (count:122)
- Chromatin interactive region (count:16)
- LncRNA region (count:1)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr1:153432054-153432104 | LNCaP | prostate: | n/a |
2 | chr1:153432128-153432178 | HNPCEpiC | eye: | n/a |
3 | chr1:153432128-153432178 | SK-N-MC | brain: | n/a |
4 | chr1:153432128-153432178 | HIPEpiC | eye: | n/a |
5 | chr1:153432054-153432104 | Hepatocyte | liver: | n/a |
6 | chr1:153432054-153432104 | ovcar-3 | ovarian: | n/a |
7 | chr1:153432128-153432178 | LNCaP | prostate: | n/a |
8 | chr1:153432054-153432104 | AG04450 | lung: | fetal |
9 | chr1:153432128-153432178 | NHBE | bronchial: | n/a |
10 | chr1:153432128-153432178 | Hepatocyte | liver: | n/a |
11 | chr1:153432128-153432178 | HEK293 | kidney: | embryo |
12 | chr1:153432128-153432178 | Caco-2 | colon: | n/a |
13 | chr1:153432128-153432178 | HCPEpiC | choroid plexus: | n/a |
14 | chr1:153432054-153432104 | SK-N-SH | brain: | n/a |
15 | chr1:153432128-153432178 | AG09319 | gingival: | n/a |
16 | chr1:153432128-153432178 | SK-N-SH | brain: | n/a |
17 | chr1:153432128-153432178 | NT2-D1 | testis: | n/a |
18 | chr1:153432128-153432178 | SK-N-SH_RA | brain: | n/a |
19 | chr1:153432128-153432178 | HAEpiC | amniotic membrane: | n/a |
20 | chr1:153432054-153432104 | GM12892 | blood: | n/a |
21 | chr1:153432054-153432104 | GM12878 | blood: | n/a |
22 | chr1:153432128-153432178 | MCF-7 | breast: | n/a |
23 | chr1:153432054-153432104 | AG09309 | skin: | n/a |
24 | chr1:153432128-153432178 | U87 | brain: | n/a |
25 | chr1:153432054-153432104 | NB4 | blood: | n/a |
26 | chr1:153432054-153432104 | HNPCEpiC | eye: | n/a |
27 | chr1:153432128-153432178 | GM12892 | blood: | n/a |
28 | chr1:153432128-153432178 | PANC-1 | pancreas: | n/a |
29 | chr1:153432128-153432178 | HCT-116 | colon: | n/a |
30 | chr1:153432128-153432178 | RPTEC | kidney: | n/a |
31 | chr1:153432128-153432178 | HMEC | breast: | n/a |
32 | chr1:153432054-153432104 | GM06990 | blood: | n/a |
33 | chr1:153432128-153432178 | ovcar-3 | ovarian: | n/a |
34 | chr1:153432054-153432104 | IMR90 | lung: | fetal |
35 | chr1:153432054-153432104 | MCF-7 | breast: | n/a |
36 | chr1:153432054-153432104 | HMEC | breast: | n/a |
37 | chr1:153432128-153432178 | HUVEC | blood vessel: | n/a |
38 | chr1:153432054-153432104 | HAEpiC | amniotic membrane: | n/a |
39 | chr1:153432128-153432178 | NB4 | blood: | n/a |
40 | chr1:153432128-153432178 | IMR90 | lung: | fetal |
41 | chr1:153432128-153432178 | HRCEpiC | kidney: | n/a |
42 | chr1:153432054-153432104 | HCT-116 | colon: | n/a |
43 | chr1:153432128-153432178 | HPAEpiC | pulmonary alveolar: | n/a |
44 | chr1:153432054-153432104 | SK-N-SH_RA | brain: | n/a |
45 | chr1:153432128-153432178 | AG10803 | skin: | n/a |
46 | chr1:153432128-153432178 | HepG2 | liver: | n/a |
47 | chr1:153432128-153432178 | AG04450 | lung: | fetal |
48 | chr1:153432054-153432104 | ProgFib | skin: | n/a |
49 | chr1:153432054-153432104 | ECC-1 | luminal epithelium: | n/a |
50 | chr1:153432054-153432104 | Caco-2 | colon: | n/a |
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr1:153413081..153415452-chr1:153435281..153437822,3 | MCF-7 | breast: | |
2 | chr1:153437926..153438880-chr1:153467491..153468041,2 | MCF-7 | breast: | |
3 | chr1:153437921..153438982-chr1:153467024..153468074,6 | K562 | blood: | |
4 | chr1:153327533..153328170-chr1:153438174..153438874,2 | MCF-7 | breast: | |
5 | chr1:153435205..153438006-chr1:153456451..153458680,2 | MCF-7 | breast: | |
6 | chr1:153327739..153331289-chr1:153432933..153435895,3 | MCF-7 | breast: | |
7 | chr1:153362307..153364896-chr1:153433996..153436243,2 | MCF-7 | breast: | |
8 | chr1:153437206..153440694-chr1:153466029..153468031,4 | MCF-7 | breast: | |
9 | chr1:153434127..153436366-chr1:153441448..153443154,2 | MCF-7 | breast: | |
10 | chr1:153321143..153321972-chr1:153438103..153438851,2 | MCF-7 | breast: | |
11 | chr1:153436847..153439085-chr1:153446138..153447980,2 | MCF-7 | breast: | |
12 | chr1:153410793..153412609-chr1:153429764..153432195,2 | MCF-7 | breast: | |
13 | chr1:153434339..153436072-chr1:153461738..153464674,2 | MCF-7 | breast: | |
14 | chr1:153329373..153332340-chr1:153432969..153437036,4 | MCF-7 | breast: | |
15 | chr1:153372721..153373690-chr1:153438049..153438638,2 | MCF-7 | breast: | |
16 | chr1:153438181..153439098-chr1:153467083..153468312,5 | MCF-7 | breast: |
(count:1 , 50 per page) page:
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-S100A7A-1 | chr1:153433284-153441910 | predAs_engstrom06_BM723462_1 |
No data |
No data |
Variant related genes | Relation type |
---|---|
S100A7 | TF binding region |
S100A7 | CpG island |
ENSG00000197364 | chromatin interactions |
ENSG00000163220 | chromatin interactions |
ENSG00000143546 | chromatin interactions |
ENSG00000163218 | chromatin interactions |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs573583979 | chr1:153431845-153431846 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
2 | rs555643153 | chr1:153431862-153431863 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
3 | rs573838302 | chr1:153431866-153431867 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
4 | rs541345433 | chr1:153431878-153431879 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
5 | rs542591008 | chr1:153431884-153431885 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
6 | rs556147600 | chr1:153431897-153431898 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
7 | rs577983297 | chr1:153431903-153431904 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
8 | rs570832864 | chr1:153431958-153431959 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
9 | rs563436915 | chr1:153431959-153431960 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
10 | rs377343091 | chr1:153431984-153431985 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
11 | rs182958270 | chr1:153432022-153432023 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
12 | rs186279741 | chr1:153432023-153432024 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
13 | rs561556026 | chr1:153432027-153432028 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
14 | rs369512615 | chr1:153432055-153432056 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
15 | rs111971844 | chr1:153432061-153432062 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
16 | rs373079856 | chr1:153432092-153432093 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
17 | rs532962454 | chr1:153432129-153432130 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
18 | rs376046652 | chr1:153432193-153432194 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
19 | rs57994016 | chr1:153432198-153432199 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs569761755 | chr1:153432212-153432213 | Weak transcription Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
21 | rs535433015 | chr1:153432213-153432214 | Weak transcription Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
22 | rs190213325 | chr1:153432233-153432234 | Weak transcription Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
23 | rs3014838 | chr1:153432265-153432266 | Weak transcription Enhancers Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
24 | rs150546133 | chr1:153432286-153432287 | Weak transcription Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
25 | rs182533668 | chr1:153432320-153432321 | Weak transcription Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
26 | rs553243205 | chr1:153432333-153432334 | Weak transcription Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
27 | rs577905261 | chr1:153432334-153432335 | Weak transcription Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
28 | rs538637737 | chr1:153432362-153432363 | Weak transcription Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
29 | rs556970364 | chr1:153432383-153432384 | Weak transcription Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
30 | rs188002165 | chr1:153432428-153432429 | Weak transcription Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
31 | rs139575991 | chr1:153432476-153432477 | Weak transcription Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
32 | rs542731587 | chr1:153432477-153432478 | Weak transcription Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
33 | rs561287994 | chr1:153432481-153432482 | Weak transcription Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
34 | rs573391666 | chr1:153432491-153432492 | Weak transcription Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
35 | rs540521144 | chr1:153432501-153432502 | Weak transcription Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
36 | rs565571499 | chr1:153432542-153432543 | Weak transcription Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
37 | rs532899241 | chr1:153432559-153432560 | Weak transcription Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
38 | rs117539358 | chr1:153432578-153432579 | Weak transcription Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
39 | rs563300862 | chr1:153432592-153432593 | Weak transcription Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
40 | rs530593377 | chr1:153432595-153432596 | Weak transcription Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
41 | rs112863917 | chr1:153432616-153432617 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
42 | rs74582152 | chr1:153432619-153432620 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
43 | rs534812260 | chr1:153432631-153432632 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
44 | rs572512435 | chr1:153432684-153432685 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
45 | rs182642329 | chr1:153432687-153432688 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
46 | rs78240518 | chr1:153432711-153432712 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
47 | rs538574129 | chr1:153432727-153432728 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
48 | rs3014839 | chr1:153432740-153432741 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
49 | rs188956425 | chr1:153432798-153432799 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
50 | rs575250950 | chr1:153432813-153432814 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Breast cancer | 17603634 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
HIV/AIDS | 22032296 | CNVD |
Schizophrenia | 19415332 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Autism | 22495311 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Liposarcoma | 21253554 | CNVD |
Non-small cell lung cancer | 21385341 | CNVD |
Diffuse large b-cell lymphoma | 18287131 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Burkitt''s lymphoma | 18698080 | CNVD |
Melanoma | 18172304 | CNVD |
Breast cancer | 20409316 | CNVD |
Splenic marginal zone lymphoma | 21957467 | CNVD |
Breast cancer | 17393978 | CNVD |
Cervical cancer | 21062161 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Cancer | 21183584 | CNVD |
Multiple myeloma | 16461302 | CNVD |
Lung cancer | 18438408 | CNVD |
Rett syndrome | 21593744 | CNVD |
Intellectual disability | 22102821 | CNVD |
Cancer | 20164919 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Systemic lupus erythematosus | 21956041 | CNVD |
Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
Acute lymphoblastic leukemia | 17443227 | CNVD |
Wilms tumour | 21544195 | CNVD |
Breast cancer | 17133270 | CNVD |
Esophageal squamous carcinoma | 18350619 | CNVD |
Non-small cell lung cancer | 21829676 | CNVD |
Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
Non-small cell lung cancer | 21044232 | CNVD |
Cervical cancer | 21063398 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Astrocytoma | 17387387 | CNVD |
Breast cancer | 20632083 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Gastrointestinal stromal cancer | 20470368 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Medulloblastoma | 21292688 | CNVD |
Phyllodes tumor | 17334353 | CNVD |
Breast cancer | 21264507 | CNVD |
Multiple myeloma | 21628407 | CNVD |
Cancer | 16751803 | CNVD |
Prostate cancer | 16705090 | CNVD |
Neuroblastoma | 19435921 | CNVD |
Breast cancer | 17850661 | CNVD |
Breast cancer | 16461572 | CNVD |
Intracranial tumor | 16823260 | CNVD |
Medulloblastoma | 18056178 | CNVD |
Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Acute lymphoblastic leukemia | 21098271 | CNVD |
Neuroblastoma | 21899760 | CNVD |
Breast cancer | 17899364 | CNVD |
Bladder cancer | 19088036 | CNVD |
Ovarian neoplasms | 16753589 | CNVD |
Glioblastoma multiforme | 17002787 | CNVD |
Breast cancer | 21858162 | CNVD |
Retinoblastoma | 19183342 | CNVD |
Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
Acute lymphoblastic leukemia | 21980252 | CNVD |
Breast cancer | 16608533 | CNVD |
Ewing''s sarcoma | 22429812 | CNVD |
Acute promyelocytic leukemia | 19109227 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Osteosarcoma | 17242211 | CNVD |
Ovarian cancer | 17242211 | CNVD |
Ovine squamous-cell carcinoma | 17599052 | CNVD |
Schizophrenia | 18990708 | CNVD |
Sudden cardiac death | 19188705 | CNVD |
Plasma-cell dyscrasia | 16705089 | CNVD |
Myeloma | 17024118 | CNVD |
Cancer | 17060936 | CNVD |
Multiple myeloma | 16616336 | CNVD |
Type 2 diabetes | 19141583 | CNVD |
Chordoma | 18071362 | CNVD |
Hepatocellular carcinoma | 18803288 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Breast cancer | 17001317 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Burkitt''s lymphoma | 19759907 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
Multiple myeloma | 17550852 | CNVD |
Prostate cancer | 18632612 | CNVD |
Follicular lymphoma | 18703704 | CNVD |
Breast cancer | 21509527 | CNVD |
Bladder cancer | 21909424 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Ovarian clear cell carcinoma | 21343371 | CNVD |
Testicular germ cell tumor | 18059402 | CNVD |
Trisomy 5 syndrome | 21098271 | CNVD |
Ependymoma | 18628472 | CNVD |
Leukemia | 18628472 | CNVD |
Gastrointestinal cancer | 16790693 | CNVD |
Esophageal adenocarcinoma | 18519675 | CNVD |
Chronic lymphocytic leukemia | 22228453 | CNVD |
Glioblastoma multiforme | 21138945 | CNVD |
low-grade B-cell lymphoma tumor | 18367492 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Acute lymphoblastic leukemia | 18458336 | CNVD |
Breast cancer | 21611746 | CNVD |
Acute lymphoblastic leukemia | 21339820 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Follicular lymphoma | 20505157 | CNVD |
Liver carcinoma | 19366792 | CNVD |
Neuroblastoma | 18923191 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Breast cancer | 22522925 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr1:153430000-153432200 | Weak transcription | Spleen | Spleen |
2 | chr1:153431000-153439000 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
3 | chr1:153431800-153433000 | Enhancers | Brain Dorsolateral Prefrontal Cortex | brain |
4 | chr1:153432200-153432600 | Active TSS | Spleen | Spleen |
5 | chr1:153432800-153433200 | Enhancers | Esophagus | oesophagus |
6 | chr1:153433200-153438400 | Weak transcription | Esophagus | oesophagus |
7 | chr1:153435800-153439200 | Weak transcription | H9 Cell Line | embryonic stem cell |
8 | chr1:153438000-153438400 | Enhancers | H1 Cell Line | embryonic stem cell |
9 | chr1:153438000-153438600 | Bivalent Enhancer | HUES6 Cell Line | embryonic stem cell |
10 | chr1:153438000-153438600 | Bivalent Enhancer | Primary T cells fromperipheralblood | blood |
11 | chr1:153438000-153439000 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
12 | chr1:153438000-153439600 | Enhancers | HUES64 Cell Line | embryonic stem cell |
13 | chr1:153438000-153440000 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
14 | chr1:153438000-153441000 | Enhancers | Fetal Heart | heart |
15 | chr1:153438200-153438400 | Bivalent Enhancer | Foreskin Fibroblast Primary Cells skin01 | Skin |
16 | chr1:153438200-153438400 | Enhancers | Brain Germinal Matrix | brain |
17 | chr1:153438200-153438400 | Bivalent Enhancer | Fetal Thymus | thymus |
18 | chr1:153438200-153438600 | Bivalent Enhancer | Primary T helper cells PMA-I stimulated | -- |
19 | chr1:153438200-153438600 | Enhancers | Primary T killer memory cells from peripheral blood | blood |
20 | chr1:153438200-153438600 | Enhancers | Liver | Liver |
21 | chr1:153438200-153438600 | Enhancers | Fetal Muscle Trunk | muscle |
22 | chr1:153438200-153438600 | Enhancers | K562 | blood |
23 | chr1:153438200-153438800 | Bivalent Enhancer | Primary B cells from peripheral blood | blood |
24 | chr1:153438200-153438800 | Enhancers | Small Intestine | intestine |
25 | chr1:153438200-153439000 | Bivalent Enhancer | Adipose Nuclei | Adipose |
26 | chr1:153438200-153439400 | Bivalent Enhancer | Fetal Muscle Leg | muscle |
27 | chr1:153438200-153439600 | Enhancers | Primary neutrophils fromperipheralblood | blood |
28 | chr1:153438200-153439600 | Enhancers | Ovary | ovary |
29 | chr1:153438200-153439600 | Enhancers | Skeletal Muscle Male | skeletal muscle |
30 | chr1:153438200-153439600 | Enhancers | NHLF | lung |
31 | chr1:153438200-153439800 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
32 | chr1:153438200-153439800 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
33 | chr1:153438200-153439800 | Enhancers | Fetal Lung | lung |