Variant report
Variant | nsv555629 |
---|---|
Chromosome Location | chr11:84720020-84744926 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:94)
- CpG islands (count:61)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr11:84735349-84735399 | A549 | lung: | n/a |
2 | chr11:84735349-84735399 | NB4 | blood: | n/a |
3 | chr11:84735349-84735399 | MCF10A-Er-Src | breast: | n/a |
4 | chr11:84735349-84735399 | NT2-D1 | testis: | n/a |
5 | chr11:84735349-84735399 | PFSK-1 | brain: | n/a |
6 | chr11:84735349-84735399 | SK-N-MC | brain: | n/a |
7 | chr11:84735349-84735399 | T-47D | breast: | n/a |
8 | chr11:84735349-84735399 | GM12891 | blood: | n/a |
9 | chr11:84735349-84735399 | AG09319 | gingival: | n/a |
10 | chr11:84735349-84735399 | H1-hESC | embryonic stem cell: | embryo |
11 | chr11:84735349-84735399 | HNPCEpiC | eye: | n/a |
12 | chr11:84735349-84735399 | AoSMC | blood vessel: | n/a |
13 | chr11:84735349-84735399 | K562 | blood: | n/a |
14 | chr11:84735349-84735399 | HRCEpiC | kidney: | n/a |
15 | chr11:84735349-84735399 | ProgFib | skin: | n/a |
16 | chr11:84735349-84735399 | PANC-1 | pancreas: | n/a |
17 | chr11:84735349-84735399 | HIPEpiC | eye: | n/a |
18 | chr11:84735349-84735399 | HEEpiC | esophagus: | n/a |
19 | chr11:84735349-84735399 | NHBE | bronchial: | n/a |
20 | chr11:84735349-84735399 | AG10803 | skin: | n/a |
21 | chr11:84735349-84735399 | GM12878 | blood: | n/a |
22 | chr11:84735349-84735399 | GM19239 | blood: | n/a |
23 | chr11:84735349-84735399 | SK-N-SH | brain: | n/a |
24 | chr11:84735349-84735399 | HCM | heart: | n/a |
25 | chr11:84735349-84735399 | HCF | heart: | n/a |
26 | chr11:84735349-84735399 | LNCaP | prostate: | n/a |
27 | chr11:84735349-84735399 | ECC-1 | luminal epithelium: | n/a |
28 | chr11:84735349-84735399 | HPAEpiC | pulmonary alveolar: | n/a |
29 | chr11:84735349-84735399 | SKMC | muscle: | n/a |
30 | chr11:84735349-84735399 | BJ | skin: | n/a |
31 | chr11:84735349-84735399 | AG04450 | lung: | fetal |
32 | chr11:84735349-84735399 | HepG2 | liver: | n/a |
33 | chr11:84735349-84735399 | AG04449 | skin: | fetal |
34 | chr11:84735349-84735399 | HAEpiC | amniotic membrane: | n/a |
35 | chr11:84735349-84735399 | Hela-S3 | cervix: | n/a |
36 | chr11:84735349-84735399 | MCF-7 | breast: | n/a |
37 | chr11:84735349-84735399 | HCPEpiC | choroid plexus: | n/a |
38 | chr11:84735349-84735399 | BE2_C | brain: | n/a |
39 | chr11:84735349-84735399 | HUVEC | blood vessel: | n/a |
40 | chr11:84735349-84735399 | HEK293 | kidney: | embryo |
41 | chr11:84735349-84735399 | HL-60 | blood: | n/a |
42 | chr11:84735349-84735399 | NH-A | brain: | n/a |
43 | chr11:84735349-84735399 | IMR90 | lung: | fetal |
44 | chr11:84735349-84735399 | GM12892 | blood: | n/a |
45 | chr11:84735349-84735399 | RPTEC | kidney: | n/a |
46 | chr11:84735349-84735399 | GM06990 | blood: | n/a |
47 | chr11:84735349-84735399 | HMEC | breast: | n/a |
48 | chr11:84735349-84735399 | SK-N-SH_RA | brain: | n/a |
49 | chr11:84735349-84735399 | HRE | kidney: | n/a |
50 | chr11:84735349-84735399 | CMK | blood: | n/a |
(count:1 , 50 per page) page:
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr10:22281778..22282701-chr11:84736295..84737043,2 | MCF-7 | breast: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
HNRNPCP6 | TF binding region |
HNRNPCP6 | CpG island |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs540466009 | chr11:84725637-84725638 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs182006542 | chr11:84725647-84725648 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs554779654 | chr11:84725648-84725649 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs141695324 | chr11:84725653-84725654 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs543741540 | chr11:84725714-84725715 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs564994942 | chr11:84725731-84725732 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs186340781 | chr11:84725746-84725747 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs540597799 | chr11:84725748-84725749 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs2252376 | chr11:84725749-84725750 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
10 | rs191091933 | chr11:84725752-84725753 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs557145717 | chr11:84725795-84725796 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs3907015 | chr11:84725828-84725829 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
13 | rs145059549 | chr11:84725864-84725865 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs117708290 | chr11:84725880-84725881 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs550458053 | chr11:84725949-84725950 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs571799998 | chr11:84725956-84725957 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs57374267 | chr11:84725986-84725987 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
18 | rs574154392 | chr11:84725992-84725993 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs7127990 | chr11:84726075-84726076 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
20 | rs566058737 | chr11:84726117-84726118 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs75308761 | chr11:84726126-84726127 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs113612383 | chr11:84726169-84726170 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs138848501 | chr11:84726178-84726179 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs141979102 | chr11:84726199-84726200 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs536802305 | chr11:84726224-84726225 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs58702484 | chr11:84726238-84726239 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs558837790 | chr11:84726250-84726251 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs545679526 | chr11:84726271-84726272 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs576693833 | chr11:84726295-84726296 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs146295718 | chr11:84726297-84726298 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs560577059 | chr11:84726301-84726302 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs564462498 | chr11:84726311-84726312 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs558950564 | chr11:84726318-84726319 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs574089995 | chr11:84726336-84726337 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs541562479 | chr11:84726385-84726386 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs11234266 | chr11:84726447-84726448 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
37 | rs374784408 | chr11:84726453-84726454 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs61909115 | chr11:84726454-84726455 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs369188137 | chr11:84726457-84726458 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs553168658 | chr11:84726458-84726459 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs549128375 | chr11:84726476-84726477 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs80008028 | chr11:84726494-84726495 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs181472524 | chr11:84726576-84726577 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs17147901 | chr11:84726581-84726582 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
45 | rs72957781 | chr11:84726629-84726630 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
46 | rs548108536 | chr11:84726659-84726660 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs142005017 | chr11:84726750-84726751 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs150679708 | chr11:84726757-84726758 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs139887837 | chr11:84726762-84726763 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs144785056 | chr11:84726785-84726786 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Medulloblastoma | 21979893 | CNVD |
Gastric cancer | 17908304 | CNVD |
Multiple myeloma | 20724749 | CNVD |
Wilms tumour | 21544195 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Non-small cell lung cancer | 21385341 | CNVD |
Intellectual disability | 22102821 | CNVD |
Autism | 22495311 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Cancer | 21637783 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Chronic lymphocytic leukemia | 21795749 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Neuroblastoma | 21484798 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Oral cancer | 21386901 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Breast cancer | 20837533 | CNVD |
Breast cancer | 21264507 | CNVD |
Cervical cancer | 21063398 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Liposarcoma | 21253554 | CNVD |
Neuroblastoma | 18923524 | CNVD |
Neuroblastoma | 18664255 | CNVD |
Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
Multiple myeloma | 17077331 | CNVD |
Neuroblastoma | 17533364 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Multiple myeloma | 16461302 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Cancer | 16751803 | CNVD |
Seminomas | 18059402 | CNVD |
Cervical cancer | 21062161 | CNVD |
Prostate cancer | 18632612 | CNVD |
Breast cancer | 17899364 | CNVD |
Breast cancer | 17157792 | CNVD |
Esophageal squamous carcinoma | 18350619 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Acute lymphoblastic leukemia | 21339820 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Neuroblastoma | 18923191 | CNVD |
Multiple myeloma | 16616336 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Cancer | 22429812 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Lung cancer | 18438408 | CNVD |
Breast cancer | 21364760 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Ovarian neoplasms | 16753589 | CNVD |
Breast cancer | 16608533 | CNVD |
Ovarian cancer | 20844748 | CNVD |
Malignant fibrous histiocytomas | 21085701 | CNVD |
Acute lymphoblastic leukemia | 17443227 | CNVD |
T-cell lymphomas | 19863542 | CNVD |
Melanoma | 18172304 | CNVD |
Acute lymphoblastic leukemia | 17690704 | CNVD |
Colorectal cancer | 16912164 | CNVD |
Mental retardation | 17847001 | CNVD |
Melanoma | 19509136 | CNVD |
Sudden cardiac death | 19188705 | CNVD |
Prostate cancer | 16573809 | CNVD |
Basal cell lymphoma | 17053054 | CNVD |
Hepatocellular carcinoma | 16785998 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
Breast cancer | 21858162 | CNVD |
Breast cancer | 21785460 | CNVD |
Cancer | 22183965 | CNVD |
Melanoma | 22183965 | CNVD |
Cancer | 20164920 | CNVD |
Obesity | 20622171 | CNVD |
Breast cancer | 22522925 | CNVD |
Developmental delay | 21147756 | CNVD |
Bipolar disorder | 19114987 | CNVD |
Acute lymphoblastic leukemia | 18458336 | CNVD |
Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
Ductal carcinoma | 22052326 | CNVD |
Breast cancer | 17142309 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr11:84725600-84726200 | Enhancers | Fetal Heart | heart |
2 | chr11:84725800-84726200 | Enhancers | Cortex derived primary cultured neurospheres | brain |
3 | chr11:84726200-84727400 | Weak transcription | Fetal Heart | heart |
4 | chr11:84727400-84728400 | Enhancers | Fetal Heart | heart |
5 | chr11:84731800-84732000 | Enhancers | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
6 | chr11:84731800-84732600 | Active TSS | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
7 | chr11:84731800-84732800 | Active TSS | NHDF-Ad | bronchial |
8 | chr11:84731800-84735400 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
9 | chr11:84732000-84732200 | Bivalent Enhancer | A549 | lung |
10 | chr11:84732000-84732600 | Flanking Active TSS | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
11 | chr11:84732200-84732600 | Active TSS | A549 | lung |
12 | chr11:84732600-84732800 | Enhancers | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
13 | chr11:84732600-84732800 | Flanking Active TSS | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
14 | chr11:84735200-84736000 | Enhancers | HUES64 Cell Line | embryonic stem cell |
15 | chr11:84735200-84736000 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
16 | chr11:84735400-84735800 | Enhancers | HUES48 Cell Line | embryonic stem cell |
17 | chr11:84735400-84736000 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
18 | chr11:84735600-84735800 | Enhancers | Cortex derived primary cultured neurospheres | brain |
19 | chr11:84735800-84738600 | Weak transcription | Cortex derived primary cultured neurospheres | brain |
20 | chr11:84738400-84738800 | Enhancers | iPS DF 6.9 Cell Line | embryonic stem cell |
21 | chr11:84738400-84739600 | Weak transcription | Fetal Stomach | stomach |
22 | chr11:84738600-84739000 | ZNF genes & repeats | Cortex derived primary cultured neurospheres | brain |
23 | chr11:84739600-84740000 | ZNF genes & repeats | Fetal Stomach | stomach |
24 | chr11:84740800-84741600 | Enhancers | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
25 | chr11:84740800-84741800 | Enhancers | Muscle Satellite Cultured Cells | -- |
26 | chr11:84741000-84741600 | Enhancers | A549 | lung |