Variant report
Variant | nsv5294 |
---|---|
Chromosome Location | chr6:49816788-49853346 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:276)
- CpG islands (count:305)
- Chromatin interactive region (count:23)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr6:49817519-49817569 | RPTEC | kidney: | n/a |
2 | chr6:49833873-49833923 | BJ | skin: | n/a |
3 | chr6:49833706-49833756 | SAEC | small airway: | n/a |
4 | chr6:49833706-49833756 | BJ | skin: | n/a |
5 | chr6:49834296-49834346 | HepG2 | liver: | n/a |
6 | chr6:49833873-49833923 | GM12878 | blood: | n/a |
7 | chr6:49833873-49833923 | PFSK-1 | brain: | n/a |
8 | chr6:49833706-49833756 | AoSMC | blood vessel: | n/a |
9 | chr6:49833706-49833756 | NB4 | blood: | n/a |
10 | chr6:49833706-49833756 | AG09309 | skin: | n/a |
11 | chr6:49833706-49833756 | NHDF-neo | bronchial: | n/a |
12 | chr6:49817519-49817569 | NH-A | brain: | n/a |
13 | chr6:49826783-49826833 | HIPEpiC | eye: | n/a |
14 | chr6:49826783-49826833 | NH-A | brain: | n/a |
15 | chr6:49833706-49833756 | PrEC | prostate: | n/a |
16 | chr6:49817519-49817569 | ECC-1 | luminal epithelium: | n/a |
17 | chr6:49834296-49834346 | PANC-1 | pancreas: | n/a |
18 | chr6:49817519-49817569 | HCT-116 | colon: | n/a |
19 | chr6:49834296-49834346 | HCM | heart: | n/a |
20 | chr6:49833873-49833923 | GM12891 | blood: | n/a |
21 | chr6:49834296-49834346 | HMEC | breast: | n/a |
22 | chr6:49833873-49833923 | ovcar-3 | ovarian: | n/a |
23 | chr6:49833873-49833923 | ProgFib | skin: | n/a |
24 | chr6:49817519-49817569 | GM12878 | blood: | n/a |
25 | chr6:49826783-49826833 | Caco-2 | colon: | n/a |
26 | chr6:49826783-49826833 | SK-N-SH | brain: | n/a |
27 | chr6:49833706-49833756 | HRPEpiC | eye: | n/a |
28 | chr6:49834296-49834346 | HUVEC | blood vessel: | n/a |
29 | chr6:49834296-49834346 | GM12878 | blood: | n/a |
30 | chr6:49834296-49834346 | AG09309 | skin: | n/a |
31 | chr6:49817519-49817569 | LNCaP | prostate: | n/a |
32 | chr6:49834296-49834346 | AG04449 | skin: | fetal |
33 | chr6:49826783-49826833 | GM06990 | blood: | n/a |
34 | chr6:49833706-49833756 | MCF10A-Er-Src | breast: | n/a |
35 | chr6:49833706-49833756 | HAEpiC | amniotic membrane: | n/a |
36 | chr6:49826783-49826833 | SAEC | small airway: | n/a |
37 | chr6:49826783-49826833 | RPTEC | kidney: | n/a |
38 | chr6:49833873-49833923 | HAEpiC | amniotic membrane: | n/a |
39 | chr6:49833873-49833923 | HRE | kidney: | n/a |
40 | chr6:49834296-49834346 | LNCaP | prostate: | n/a |
41 | chr6:49817519-49817569 | A549 | lung: | n/a |
42 | chr6:49833706-49833756 | HRE | kidney: | n/a |
43 | chr6:49817519-49817569 | IMR90 | lung: | fetal |
44 | chr6:49833706-49833756 | SK-N-SH | brain: | n/a |
45 | chr6:49817519-49817569 | AG09309 | skin: | n/a |
46 | chr6:49834296-49834346 | SK-N-SH | brain: | n/a |
47 | chr6:49833873-49833923 | RPTEC | kidney: | n/a |
48 | chr6:49834296-49834346 | H1-hESC | embryonic stem cell: | embryo |
49 | chr6:49817519-49817569 | SKMC | muscle: | n/a |
50 | chr6:49833706-49833756 | H1-hESC | embryonic stem cell: | embryo |
(count:23 , 50 per page) page:
1
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr6:49590475..49591313-chr6:49817014..49817526,2 | K562 | blood: | |
2 | chr6:49817615..49819181-chr6:49819234..49821826,2 | K562 | blood: | |
3 | chr6:49499618..49500440-chr6:49816868..49817738,3 | MCF-7 | breast: | |
4 | chr13:22152238..22152738-chr6:49817379..49817955,2 | MCF-7 | breast: | |
5 | chr6:49817615..49819181-chr6:49819234..49821826,2 | K562 | blood: | |
6 | chr6:49518725..49520289-chr6:49814843..49817338,2 | MCF-7 | breast: | |
7 | chr6:49814618..49817274-chr6:49820060..49822191,2 | K562 | blood: | |
8 | chr6:49513805..49516776-chr6:49821322..49822831,2 | K562 | blood: | |
9 | chr6:49590460..49591658-chr6:49816765..49817811,8 | MCF-7 | breast: | |
10 | chr6:49590480..49591506-chr6:49816464..49817893,12 | MCF-7 | breast: | |
11 | chr6:49577263..49579688-chr6:49814962..49817150,2 | K562 | blood: | |
12 | chr6:49499080..49500519-chr6:49816228..49818102,14 | K562 | blood: | |
13 | chr6:49498619..49500704-chr6:49815578..49817454,2 | K562 | blood: | |
14 | chr6:49817546..49820511-chr6:49881787..49884354,2 | MCF-7 | breast: | |
15 | chr6:49527272..49529386-chr6:49818361..49819929,2 | MCF-7 | breast: | |
16 | chr6:49574921..49575492-chr6:49816904..49817542,2 | MCF-7 | breast: | |
17 | chr6:49597656..49601236-chr6:49815948..49819528,4 | K562 | blood: | |
18 | chr6:49608680..49611056-chr6:49815875..49818691,2 | K562 | blood: | |
19 | chr6:49499548..49500326-chr6:49816940..49817878,3 | MCF-7 | breast: | |
20 | chr6:49614202..49616048-chr6:49853237..49855497,2 | K562 | blood: | |
21 | chr6:49849907..49852896-chr6:49855153..49856716,2 | MCF-7 | breast: | |
22 | chr6:49814618..49817274-chr6:49820060..49822191,2 | K562 | blood: | |
23 | chr6:49522660..49524598-chr6:49816309..49818376,2 | MCF-7 | breast: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
CRISP1 | TF binding region |
CRISP1 | CpG island |
ENSG00000197261 | chromatin interactions |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs189115547 | chr6:49816838-49816839 | Enhancers ZNF genes & repeats | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
2 | rs537707633 | chr6:49816902-49816903 | Enhancers ZNF genes & repeats | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
3 | rs138272448 | chr6:49816905-49816906 | Enhancers ZNF genes & repeats | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
4 | rs149620728 | chr6:49816907-49816908 | Enhancers ZNF genes & repeats | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
5 | rs373518246 | chr6:49816962-49816963 | Enhancers ZNF genes & repeats | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
6 | rs372280667 | chr6:49816993-49816994 | Enhancers ZNF genes & repeats | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
7 | rs181560303 | chr6:49817055-49817056 | Enhancers ZNF genes & repeats | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
8 | rs534186273 | chr6:49817056-49817057 | Enhancers ZNF genes & repeats | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
9 | rs550019216 | chr6:49817084-49817085 | Enhancers ZNF genes & repeats | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
10 | rs569966528 | chr6:49817099-49817100 | Enhancers ZNF genes & repeats | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
11 | rs553911158 | chr6:49817121-49817122 | Enhancers ZNF genes & repeats | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
12 | rs183826303 | chr6:49817125-49817126 | Enhancers ZNF genes & repeats | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
13 | rs144320260 | chr6:49817143-49817144 | Enhancers ZNF genes & repeats | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
14 | rs556763121 | chr6:49817177-49817178 | Enhancers ZNF genes & repeats | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
15 | rs576721195 | chr6:49817193-49817194 | Enhancers ZNF genes & repeats | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
16 | rs532302659 | chr6:49817215-49817216 | ZNF genes & repeats | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
17 | rs552390789 | chr6:49817219-49817220 | ZNF genes & repeats | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
18 | rs542497306 | chr6:49817236-49817237 | ZNF genes & repeats | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
19 | rs148766484 | chr6:49817241-49817242 | ZNF genes & repeats | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
20 | rs189899054 | chr6:49817264-49817265 | ZNF genes & repeats | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
21 | rs540208853 | chr6:49817278-49817279 | ZNF genes & repeats | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
22 | rs559921580 | chr6:49817288-49817289 | ZNF genes & repeats | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
23 | rs371837964 | chr6:49817306-49817307 | ZNF genes & repeats | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
24 | rs532197796 | chr6:49817315-49817316 | ZNF genes & repeats | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
25 | rs565927057 | chr6:49817323-49817324 | ZNF genes & repeats | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
26 | rs551864263 | chr6:49817368-49817369 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
27 | rs62404911 | chr6:49817421-49817422 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
28 | rs554007404 | chr6:49817422-49817423 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs377120442 | chr6:49817460-49817461 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs368001509 | chr6:49817467-49817468 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs116718098 | chr6:49817480-49817481 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs79464243 | chr6:49817509-49817510 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs75636582 | chr6:49817564-49817565 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs62404912 | chr6:49817574-49817575 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
35 | rs150055243 | chr6:49817594-49817595 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs556776932 | chr6:49817601-49817602 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs576320840 | chr6:49817604-49817605 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs545343163 | chr6:49817652-49817653 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs547738905 | chr6:49817662-49817663 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs559702344 | chr6:49817669-49817670 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs570775975 | chr6:49817697-49817698 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs539903761 | chr6:49817704-49817705 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs528537912 | chr6:49817728-49817729 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs556699719 | chr6:49817743-49817744 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs570212970 | chr6:49817760-49817761 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs112832491 | chr6:49817786-49817787 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs555719156 | chr6:49817804-49817805 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs56806735 | chr6:49817805-49817806 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs377210900 | chr6:49817806-49817807 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs149623620 | chr6:49817821-49817822 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
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 |
Glioblastoma multiforme | 21080181 | 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 |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Prostate cancer | 18632612 | CNVD |
Breast cancer | 21858162 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Autism | 21448237 | CNVD |
Melanoma | 18172304 | CNVD |
Breast cancer | 20668451 | CNVD |
Cancer | 20668451 | CNVD |
Lung cancer | 20668451 | CNVD |
Ovarian cancer | 20668451 | CNVD |
Pancreas cancer | 20668451 | CNVD |
Prostate cancer | 20668451 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Autism | 22495311 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Urothelial carcinoma | 18382360 | CNVD |
Cancer | 21183584 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Gastric cancer | 17908304 | CNVD |
Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
Neuroblastoma | 16790693 | CNVD |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
Osteosarcoma | 16790693 | CNVD |
Biliary cancer | 20360734 | CNVD |
Breast cancer | 20360734 | CNVD |
Coronary artery disease | 20360734 | CNVD |
Crohn''s disease | 20360734 | CNVD |
Hypertension | 20360734 | CNVD |
Rheumatoid arthritis | 20360734 | CNVD |
Type 1 diabetes | 20360734 | CNVD |
Type 2 diabetes | 20360734 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Lung cancer | 18438408 | CNVD |
Ovarian cancer | 21720365 | CNVD |
Osteosarcoma | 21197465 | CNVD |
Gastric cancer | 24379144 | CNVD |
Neuroblastoma | 18923191 | CNVD |
Breast cancer | 17603634 | CNVD |
Breast cancer | 21364760 | CNVD |
Follicular lymphoma | 16790693 | CNVD |
Osteosarcoma | 19286668 | CNVD |
Neurocytoma | 17123091 | CNVD |
Systemic lupus erythematosus | 17503323 | CNVD |
Gastrointestinal stromal cancer | 20818650 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Heart disease | 21282601 | CNVD |
Acute lymphoblastic leukemia | 17443227 | CNVD |
Breast cancer | 16608533 | CNVD |
Olfactory neuroblastoma | 18408657 | CNVD |
Esophageal adenocarcinoma | 18820669 | CNVD |
Neuroblastoma | 19686582 | CNVD |
Neuroblastoma | 17289879 | CNVD |
Breast cancer | 17899364 | CNVD |
Breast cancer | 17133270 | CNVD |
Esophageal squamous carcinoma | 18350619 | CNVD |
Chronic lymphocytic leukemia | 20421269 | CNVD |
Bladder cancer | 21909424 | CNVD |
Breast cancer | 22522925 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr6:49816200-49817400 | ZNF genes & repeats | K562 | blood |
2 | chr6:49816800-49817200 | Enhancers | Fetal Stomach | stomach |
3 | chr6:49817400-49820200 | Weak transcription | K562 | blood |
4 | chr6:49820200-49821400 | Enhancers | K562 | blood |
5 | chr6:49822400-49822600 | Enhancers | Stomach Mucosa | stomach |
6 | chr6:49822400-49823400 | Enhancers | Primary hematopoietic stem cells | blood |
7 | chr6:49822400-49823600 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
8 | chr6:49822400-49823800 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Female | -- |
9 | chr6:49822800-49823800 | Weak transcription | Stomach Mucosa | stomach |
10 | chr6:49823800-49824200 | Enhancers | Gastric | stomach |
11 | chr6:49823800-49824200 | Enhancers | Stomach Mucosa | stomach |
12 | chr6:49825200-49827000 | Enhancers | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
13 | chr6:49826800-49827000 | Enhancers | Right Atrium | heart |
14 | chr6:49833400-49834800 | Enhancers | K562 | blood |
15 | chr6:49833600-49834400 | Enhancers | Fetal Intestine Large | intestine |
16 | chr6:49834400-49834800 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
17 | chr6:49834400-49835800 | Weak transcription | Fetal Intestine Large | intestine |
18 | chr6:49834800-49835800 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
19 | chr6:49835800-49836000 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
20 | chr6:49835800-49836000 | Enhancers | Fetal Intestine Large | intestine |
21 | chr6:49835800-49836200 | Enhancers | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
22 | chr6:49836000-49836400 | Weak transcription | Fetal Intestine Large | intestine |
23 | chr6:49836400-49836800 | Enhancers | Fetal Intestine Large | intestine |