Variant report
Variant | nsv971988 |
---|---|
Chromosome Location | chr11:17068362-17084978 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:126)
- CpG islands (count:61)
- Chromatin interactive region (count:13)
- LncRNA region (count:2)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr11:17072475-17072525 | A549 | lung: | n/a |
2 | chr11:17072475-17072525 | IMR90 | lung: | fetal |
3 | chr11:17072475-17072525 | NHBE | bronchial: | n/a |
4 | chr11:17072475-17072525 | HCM | heart: | n/a |
5 | chr11:17072475-17072525 | BJ | skin: | n/a |
6 | chr11:17072475-17072525 | Hepatocyte | liver: | n/a |
7 | chr11:17072475-17072525 | ProgFib | skin: | n/a |
8 | chr11:17072475-17072525 | HRPEpiC | eye: | n/a |
9 | chr11:17072475-17072525 | H1-hESC | embryonic stem cell: | embryo |
10 | chr11:17072475-17072525 | ovcar-3 | ovarian: | n/a |
11 | chr11:17072475-17072525 | AoSMC | blood vessel: | n/a |
12 | chr11:17072475-17072525 | HNPCEpiC | eye: | n/a |
13 | chr11:17072475-17072525 | NB4 | blood: | n/a |
14 | chr11:17072475-17072525 | SK-N-MC | brain: | n/a |
15 | chr11:17072475-17072525 | HepG2 | liver: | n/a |
16 | chr11:17072475-17072525 | NT2-D1 | testis: | n/a |
17 | chr11:17072475-17072525 | T-47D | breast: | n/a |
18 | chr11:17072475-17072525 | AG10803 | skin: | n/a |
19 | chr11:17072475-17072525 | Caco-2 | colon: | n/a |
20 | chr11:17072475-17072525 | NH-A | brain: | n/a |
21 | chr11:17072475-17072525 | MCF10A-Er-Src | breast: | n/a |
22 | chr11:17072475-17072525 | AG04450 | lung: | fetal |
23 | chr11:17072475-17072525 | SK-N-SH_RA | brain: | n/a |
24 | chr11:17072475-17072525 | NHDF-neo | bronchial: | n/a |
25 | chr11:17072475-17072525 | AG04449 | skin: | fetal |
26 | chr11:17072475-17072525 | GM19239 | blood: | n/a |
27 | chr11:17072475-17072525 | PrEC | prostate: | n/a |
28 | chr11:17072475-17072525 | PFSK-1 | brain: | n/a |
29 | chr11:17072475-17072525 | AG09319 | gingival: | n/a |
30 | chr11:17072475-17072525 | BE2_C | brain: | n/a |
31 | chr11:17072475-17072525 | AG09309 | skin: | n/a |
32 | chr11:17072475-17072525 | HRE | kidney: | n/a |
33 | chr11:17072475-17072525 | Hela-S3 | cervix: | n/a |
34 | chr11:17072475-17072525 | K562 | blood: | n/a |
35 | chr11:17072475-17072525 | HIPEpiC | eye: | n/a |
36 | chr11:17072475-17072525 | GM12878 | blood: | n/a |
37 | chr11:17072475-17072525 | PANC-1 | pancreas: | n/a |
38 | chr11:17072475-17072525 | HEEpiC | esophagus: | n/a |
39 | chr11:17072475-17072525 | HUVEC | blood vessel: | n/a |
40 | chr11:17072475-17072525 | GM06990 | blood: | n/a |
41 | chr11:17072475-17072525 | HPAEpiC | pulmonary alveolar: | n/a |
42 | chr11:17072475-17072525 | HL-60 | blood: | n/a |
43 | chr11:17072475-17072525 | SK-N-SH | brain: | n/a |
44 | chr11:17072475-17072525 | HCT-116 | colon: | n/a |
45 | chr11:17072475-17072525 | HCPEpiC | choroid plexus: | n/a |
46 | chr11:17072475-17072525 | RPTEC | kidney: | n/a |
47 | chr11:17072475-17072525 | HMEC | breast: | n/a |
48 | chr11:17072475-17072525 | GM12891 | blood: | n/a |
49 | chr11:17072475-17072525 | LNCaP | prostate: | n/a |
50 | chr11:17072475-17072525 | SAEC | small airway: | n/a |
(count:13 , 50 per page) page:
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr11:16957436..16957968-chr11:17084808..17085604,2 | MCF-7 | breast: | |
2 | chr11:16841944..16842456-chr11:17084770..17085286,2 | MCF-7 | breast: | |
3 | chr11:16967205..16968144-chr11:17084611..17085599,4 | K562 | blood: | |
4 | chr11:16809642..16810608-chr11:17084703..17085602,3 | K562 | blood: | |
5 | chr11:17037168..17039319-chr11:17083342..17085313,2 | MCF-7 | breast: | |
6 | chr11:17076833..17079491-chr11:17096981..17099134,2 | K562 | blood: | |
7 | chr11:16965139..16965875-chr11:17084804..17085626,2 | K562 | blood: | |
8 | chr11:16966859..16968159-chr11:17084631..17085602,16 | MCF-7 | breast: | |
9 | chr11:17080572..17084120-chr11:17094846..17097568,3 | K562 | blood: | |
10 | chr11:16967480..16968226-chr11:17084925..17085584,5 | MCF-7 | breast: | |
11 | chr11:16957493..16958020-chr11:17084682..17085371,2 | MCF-7 | breast: | |
12 | chr11:16809483..16810382-chr11:17084674..17085567,3 | MCF-7 | breast: | |
13 | chr11:17081722..17084120-chr11:17095791..17097409,2 | K562 | blood: |
(count:2 , 50 per page) page:
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-NUCB2-7 | chr11:17073579-17074205 | NONHSAT018197 |
2 | lnc-NUCB2-7 | chr11:17073578-17073845 | NONHSAT018199 |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000264378 | TF binding region |
OR7E14P | TF binding region |
ENSG00000264378 | CpG island |
OR7E14P | CpG island |
ENSG00000221322 | chromatin interactions |
ENSG00000110700 | chromatin interactions |
ENSG00000201403 | chromatin interactions |
ENSG00000272034 | chromatin interactions |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs538442982 | chr11:17068382-17068383 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs114119819 | chr11:17068430-17068431 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs371758693 | chr11:17068462-17068463 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs539403757 | chr11:17068469-17068470 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs376657955 | chr11:17068484-17068485 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs555445462 | chr11:17068485-17068486 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs187946848 | chr11:17068524-17068525 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs541325553 | chr11:17068546-17068547 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs575181359 | chr11:17068555-17068556 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs375992182 | chr11:17068580-17068581 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
11 | rs560095275 | chr11:17068587-17068588 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
12 | rs368849756 | chr11:17068591-17068592 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
13 | rs533718096 | chr11:17068597-17068598 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
14 | rs545611304 | chr11:17068608-17068609 | Weak transcription Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
15 | rs563907051 | chr11:17068611-17068612 | Weak transcription Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
16 | rs544061811 | chr11:17068622-17068623 | Weak transcription Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
17 | rs58687075 | chr11:17068627-17068628 | Weak transcription Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
18 | rs192466675 | chr11:17068656-17068657 | Weak transcription Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
19 | rs373509914 | chr11:17068658-17068659 | Weak transcription Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
20 | rs563981756 | chr11:17068741-17068742 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs376841453 | chr11:17068742-17068743 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs549084194 | chr11:17068752-17068753 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs567117916 | chr11:17068774-17068775 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs528092273 | chr11:17068778-17068779 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs546325767 | chr11:17068809-17068810 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs371779973 | chr11:17068822-17068823 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs369758994 | chr11:17068847-17068848 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs551373172 | chr11:17068849-17068850 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs571198090 | chr11:17068868-17068869 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs538581097 | chr11:17068871-17068872 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs373259299 | chr11:17068897-17068898 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs190828078 | chr11:17068920-17068921 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs374341828 | chr11:17068938-17068939 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs569783231 | chr11:17068944-17068945 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs568731290 | chr11:17068994-17068995 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs537113388 | chr11:17069051-17069052 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs555837573 | chr11:17069093-17069094 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
38 | rs573907964 | chr11:17069099-17069100 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
39 | rs182271142 | chr11:17069124-17069125 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
40 | rs553446653 | chr11:17069134-17069135 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
41 | rs188089063 | chr11:17069141-17069142 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
42 | rs117451391 | chr11:17069173-17069174 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
43 | rs563845366 | chr11:17069220-17069221 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
44 | rs200558563 | chr11:17069231-17069232 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
45 | rs559681224 | chr11:17069232-17069233 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
46 | rs192370046 | chr11:17069246-17069247 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
47 | rs561035088 | chr11:17069259-17069260 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
48 | rs528214317 | chr11:17069281-17069282 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
49 | rs546172490 | chr11:17069287-17069288 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
50 | rs534996939 | chr11:17069319-17069320 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Cancer | 21183584 | CNVD |
Gastric adenocarcinoma | 19115996 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Burkitt''s lymphoma | 19759907 | CNVD |
Breast cancer | 17603634 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Thyroid cancer | 19087340 | CNVD |
Melanoma | 18172304 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Wilms tumour | 21544195 | CNVD |
Parathyroid adenoma | 22454399 | CNVD |
Chordoma | 21602918 | CNVD |
Breast cancer | 21949216 | CNVD |
Cancer | 21637783 | CNVD |
Non-syndromic sensorineural hearing loss | 19222835 | CNVD |
T-cell acute lymphoblastic leukemia | 20065082 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Astrocytoma | 17387387 | CNVD |
Breast cancer | 21264507 | CNVD |
Beckwith-Wiedemann syndrome | 21518781 | CNVD |
Wilms tumour | 21518781 | CNVD |
Hepatoblastoma | 21518781 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Gastrointestinal stromal cancer | 17535989 | CNVD |
Paraganglioma | 17535989 | CNVD |
Pulmonary chondroma | 17535989 | CNVD |
Gastric cancer | 17908304 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Multiple myeloma | 20724749 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Autism | 22495311 | CNVD |
Prostate cancer | 18632612 | CNVD |
Lung cancer | 18438408 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Multiple myeloma | 16461302 | CNVD |
Non-small cell lung cancer | 21385341 | CNVD |
Intellectual disability | 22102821 | CNVD |
Breast cancer | 21858162 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Breast cancer | 21785460 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Neuroblastoma | 21899760 | CNVD |
Lung adenocarcinoma | 17086460 | CNVD |
Urothelial cell carcinoma | 18451213 | CNVD |
Lung cancer | 17086460 | CNVD |
Uterine serous papillary cancer | 19536090 | CNVD |
High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
Medulloblastoma | 16783165 | CNVD |
Breast cancer | 20668451 | CNVD |
Cancer | 20668451 | CNVD |
Lung cancer | 20668451 | CNVD |
Ovarian cancer | 20668451 | CNVD |
Pancreas cancer | 20668451 | CNVD |
Prostate cancer | 20668451 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Breast cancer | 22522925 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr11:17066800-17070600 | Enhancers | Fetal Intestine Small | intestine |
2 | chr11:17067400-17068400 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
3 | chr11:17067400-17071000 | Enhancers | Fetal Intestine Large | intestine |
4 | chr11:17067600-17071000 | Enhancers | HepG2 | liver |
5 | chr11:17068200-17069000 | Enhancers | Stomach Mucosa | stomach |
6 | chr11:17068200-17069400 | Enhancers | Pancreas | Pancrea |
7 | chr11:17068400-17068600 | Enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |
8 | chr11:17068400-17069200 | Enhancers | Liver | Liver |
9 | chr11:17068400-17070000 | Enhancers | Gastric | stomach |
10 | chr11:17068600-17068800 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
11 | chr11:17069200-17069600 | Weak transcription | Liver | Liver |
12 | chr11:17069400-17070000 | Enhancers | Sigmoid Colon | Sigmoid Colon |
13 | chr11:17069400-17096200 | Weak transcription | Pancreas | Pancrea |
14 | chr11:17069600-17070400 | Enhancers | Liver | Liver |
15 | chr11:17069600-17070600 | Enhancers | Placenta | Placenta |
16 | chr11:17069800-17071000 | Enhancers | A549 | lung |
17 | chr11:17070600-17088400 | Weak transcription | Fetal Intestine Small | intestine |
18 | chr11:17070800-17071000 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
19 | chr11:17070800-17071000 | Enhancers | Stomach Mucosa | stomach |
20 | chr11:17079400-17094600 | Weak transcription | Primary B cells from cord blood | blood |
21 | chr11:17083800-17093800 | Weak transcription | A549 | lung |
22 | chr11:17084400-17095000 | Weak transcription | Primary T helper naive cells from peripheral blood | blood |
23 | chr11:17084800-17085000 | Enhancers | Brain Substantia Nigra | brain |
24 | chr11:17084800-17095200 | Weak transcription | iPS DF 6.9 Cell Line | embryonic stem cell |