Variant report
Variant | esv33920 |
---|---|
Chromosome Location | chr8:11234808-11246957 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:27)
- CpG islands (count:0)
- Chromatin interactive region (count:6)
- LncRNA region (count:2)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:27 , 50 per page) page:
1
No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | BATF | chr8:11235937-11236160 | GM12878 | blood: | n/a | n/a |
2 | CEBPB | chr8:11244101-11244368 | HepG2 | liver: | n/a | chr8:11244236-11244249 chr8:11244237-11244248 chr8:11244236-11244247 chr8:11244236-11244249 |
3 | CEBPB | chr8:11244061-11244296 | A549 | lung: | n/a | chr8:11244236-11244249 chr8:11244237-11244248 chr8:11244236-11244247 chr8:11244236-11244249 |
4 | CEBPB | chr8:11244124-11244287 | K562 | blood: | n/a | chr8:11244236-11244249 chr8:11244237-11244248 chr8:11244236-11244247 chr8:11244236-11244249 |
5 | CTCF | chr8:11245280-11245430 | GM06990 | blood: | n/a | n/a |
6 | CUX1 | chr8:11235929-11236019 | GM12878 | blood: | n/a | n/a |
7 | EP300 | chr8:11244101-11244231 | K562 | blood: | n/a | n/a |
8 | FAM48A | chr8:11242412-11242504 | GM12878 | blood: | n/a | n/a |
9 | GATA3 | chr8:11243460-11243578 | SH-SY5Y | brain: | n/a | n/a |
10 | GATA3 | chr8:11242987-11243071 | SH-SY5Y | brain: | n/a | n/a |
11 | GATA3 | chr8:11244654-11245125 | MCF-7 | breast: | n/a | n/a |
12 | IRF1 | chr8:11238482-11238807 | K562 | blood: | n/a | n/a |
13 | MAFF | chr8:11246513-11246670 | HepG2 | liver: | n/a | chr8:11246597-11246611 chr8:11246598-11246616 |
14 | MAFF | chr8:11243930-11244072 | HepG2 | liver: | n/a | chr8:11243981-11243995 chr8:11243982-11244000 |
15 | MAFK | chr8:11243942-11244103 | HepG2 | liver: | n/a | chr8:11243978-11243998 chr8:11243983-11243998 chr8:11243980-11243996 |
16 | MAFK | chr8:11246439-11246723 | HepG2 | liver: | n/a | chr8:11246597-11246611 chr8:11246594-11246614 chr8:11246596-11246612 chr8:11246599-11246614 |
17 | MAFK | chr8:11246526-11246726 | HepG2 | liver: | n/a | chr8:11246597-11246611 chr8:11246594-11246614 chr8:11246596-11246612 chr8:11246599-11246614 |
18 | MAFK | chr8:11243901-11244101 | HepG2 | liver: | n/a | chr8:11243978-11243998 chr8:11243983-11243998 chr8:11243980-11243996 |
19 | MYC | chr8:11245996-11246142 | H1-hESC | embryonic stem cell: | n/a | n/a |
20 | NFIC | chr8:11235876-11236316 | GM12878 | blood: | n/a | n/a |
21 | POLR2A | chr8:11239540-11239615 | MCF10A-Er-Src | breast: | n/a | n/a |
22 | POLR2A | chr8:11242418-11242504 | MCF10A-Er-Src | breast: | n/a | n/a |
23 | RFX5 | chr8:11244116-11244130 | K562 | blood: | n/a | n/a |
24 | SPI1 | chr8:11236021-11236171 | GM12878 | blood: | n/a | chr8:11236097-11236106 |
25 | SPI1 | chr8:11235824-11236417 | GM12878 | blood: | n/a | chr8:11236097-11236106 |
26 | SPI1 | chr8:11235923-11236163 | GM12891 | blood: | n/a | chr8:11236097-11236106 |
27 | SPI1 | chr8:11235990-11236141 | GM12878 | blood: | n/a | chr8:11236097-11236106 |
No data |
(count:6 , 50 per page) page:
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr8:11235300..11237155-chr8:11240662..11242925,2 | K562 | blood: | |
2 | chr8:11220966..11222998-chr8:11244334..11246099,2 | MCF-7 | breast: | |
3 | chr8:11142292..11144039-chr8:11239776..11243464,3 | K562 | blood: | |
4 | chr8:11242265..11244818-chr8:11252582..11254482,2 | MCF-7 | breast: | |
5 | chr8:11241230..11243986-chr8:11247872..11250169,2 | K562 | blood: | |
6 | chr8:11142292..11144724-chr8:11241964..11244169,2 | K562 | blood: |
(count:2 , 50 per page) page:
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-C8orf12-1 | chr8:11241322-11241510 | NR_026814 |
2 | lnc-SLC35G5-1 | chr8:11236904-11237200 | NONHSAT125053 |
No data |
No data |
Variant related genes | Relation type |
---|---|
RN7SL293P | TF binding region |
C8orf12 | TF binding region |
ENSG00000184608 | chromatin interactions |
ENSG00000199368 | chromatin interactions |
ENSG00000242483 | chromatin interactions |
ENSG00000104643 | chromatin interactions |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs191093376 | chr8:11234819-11234820 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs548373621 | chr8:11234830-11234831 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs535914047 | chr8:11234843-11234844 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs2736296 | chr8:11234844-11234845 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
5 | rs180702984 | chr8:11234852-11234853 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs2736297 | chr8:11234885-11234886 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
7 | rs549888439 | chr8:11234895-11234896 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs538596521 | chr8:11234922-11234923 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs532409301 | chr8:11234942-11234943 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs543485661 | chr8:11234943-11234944 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs558659033 | chr8:11234949-11234950 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs577129527 | chr8:11234958-11234959 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs541188121 | chr8:11234990-11234991 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs529691843 | chr8:11235041-11235042 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs574782272 | chr8:11235045-11235046 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs541899600 | chr8:11235059-11235060 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs145433400 | chr8:11235069-11235070 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs186455813 | chr8:11235070-11235071 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs530784212 | chr8:11235084-11235085 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs191033127 | chr8:11235087-11235088 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs564200023 | chr8:11235099-11235100 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs528662665 | chr8:11235111-11235112 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs549172959 | chr8:11235128-11235129 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs2736298 | chr8:11235136-11235137 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
25 | rs368775321 | chr8:11235139-11235140 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs57629785 | chr8:11235150-11235151 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
27 | rs536128449 | chr8:11235174-11235175 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs551764892 | chr8:11235251-11235252 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs547908248 | chr8:11235266-11235267 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs2572395 | chr8:11235360-11235361 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
31 | rs2572394 | chr8:11235393-11235394 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
32 | rs76141575 | chr8:11235422-11235423 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs2736299 | chr8:11235433-11235434 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
34 | rs534862784 | chr8:11235458-11235459 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs553195644 | chr8:11235459-11235460 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs574677887 | chr8:11235462-11235463 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs574060042 | chr8:11235475-11235476 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs370672734 | chr8:11235484-11235485 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs2437152 | chr8:11235497-11235498 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
40 | rs2736300 | chr8:11235579-11235580 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
41 | rs386722260 | chr8:11235605-11235606 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs2572391 | chr8:11235614-11235615 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
43 | rs35721717 | chr8:11235634-11235635 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs183184792 | chr8:11235651-11235652 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs188605156 | chr8:11235657-11235658 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs546821245 | chr8:11235675-11235676 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs141784342 | chr8:11235693-11235694 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs1435275 | chr8:11235735-11235736 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
49 | rs551274653 | chr8:11235739-11235740 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs569411853 | chr8:11235758-11235759 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Crohn''s disease | 19220326 | CNVD |
Psoriasis | 19220326 | CNVD |
Prostate cancer | 21965145 | CNVD |
Prostate cancer | 18515986 | CNVD |
Chronic obstructive pulmonary disease | 20378733 | CNVD |
Autism | 18414403 | CNVD |
Cancer | 21183584 | CNVD |
Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
Breast cancer | 17603634 | CNVD |
Myeloproliferative neoplasm | 20015882 | CNVD |
Ovarian cancer | 20844748 | CNVD |
Cervical cancer | 17311676 | CNVD |
High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
Non-syndromic sensorineural hearing loss | 20606397 | CNVD |
Schizophrenia | 20877625 | CNVD |
Disorders of sex development | 21048976 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Basal cell lymphoma | 17170743 | CNVD |
Follicular lymphoma | 17170743 | CNVD |
Breast cancer | 17001317 | CNVD |
Thyroid cancer | 19087340 | CNVD |
Multiple myeloma | 16616336 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Heart disease | 21282601 | CNVD |
Prostate cancer | 16573809 | CNVD |
T-cell lymphomas | 19863542 | CNVD |
Ovarian cancer | 22174824 | CNVD |
Colorectal cancer | 21297112 | CNVD |
Hodgkin''s lymphoma | 18641027 | CNVD |
Salivary gland tumor | 18059337 | CNVD |
Breast cancer | 17133270 | CNVD |
Melanoma | 18172304 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Chronic lymphocytic leukemia | 18922857 | CNVD |
Breast cancer | 17393978 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Cancer | 21637783 | CNVD |
Breast cancer | 20837533 | CNVD |
Squamous cell cancer | 21044232 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Cancer | 22429812 | CNVD |
Non-small cell lung cancer | 21044232 | CNVD |
Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Colorectal cancer | 20709793 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Basal cell lymphoma | 21115979 | CNVD |
Breast cancer | 21264507 | CNVD |
Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Oral cancer | 21386901 | CNVD |
Prostate cancer | 21088497 | CNVD |
Breast cancer | 20940404 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Embryonal rhabdomyosarcoma | 16790082 | CNVD |
Gastric cancer | 17167181 | CNVD |
Prostate cancer | 16705090 | CNVD |
8p-syndrome | 17576883 | CNVD |
Human rectal carcinomas | 16397240 | CNVD |
Medulloblastoma | 16968546 | CNVD |
Lung adenocarcinoma | 19525976 | CNVD |
Lung cancer | 19525976 | CNVD |
Prostate cancer | 17245344 | CNVD |
Gastrointestinal stromal cancer | 16982739 | CNVD |
Cancer | 16751803 | CNVD |
Wilms tumour | 21544195 | CNVD |
Gastric cancer | 17908304 | CNVD |
Autism | 19415332 | CNVD |
Malaria | 21533027 | CNVD |
Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
Esophageal cancer | 21851588 | CNVD |
Acute promyelocytic leukemia | 19109227 | CNVD |
Breast cancer | 21245420 | CNVD |
Acute lymphoblastic leukemia | 21248843 | CNVD |
Breast cancer | 21785460 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Breast cancer | 21509527 | CNVD |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
Prostate cancer | 18632612 | CNVD |
Breast cancer | 21858162 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Liver carcinoma | 19366792 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Congenital diaphragmatic hernia | 21064195 | CNVD |
Autism | 22495311 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Intellectual disability | 22045946 | CNVD |
Malignant fibrous histiocytomas | 21085701 | CNVD |
Breast cancer | 16608533 | CNVD |
Seminomas | 18059402 | CNVD |
Lung cancer | 18438408 | CNVD |
Lung squamous cell carcinoma | 22363434 | CNVD |
Medulloblastoma | 16783165 | CNVD |
Gastric cancer | 18160780 | CNVD |
Breast cancer | 21990379 | CNVD |
Psoriasis | 20403174 | CNVD |
Psoriasis | 20663923 | CNVD |
Crohn''s disease | 16909382 | CNVD |
Cancer | 21129771 | CNVD |
Congenital diaphragmatic hernia | 21085971 | CNVD |
Crohn''s disease | 20877625 | CNVD |
Inflammatory disorder | 20877625 | CNVD |
Cardiac defect | 21933911 | CNVD |
Psoriasis | 18059266 | CNVD |
Barrett''s adenocarcinoma | 18663352 | CNVD |
Psoriasis | 20877625 | CNVD |
Mental retardation | 17847001 | CNVD |
Prostate cancer | 17217626 | CNVD |
Schizophrenia | 21399695 | CNVD |
Colorectal cancer | 21128281 | CNVD |
Colorectal cancer | 19455253 | CNVD |
Psoriasis | 18848619 | CNVD |
Squamous cell cancer | 19047905 | CNVD |
Colorectal cancer | 17229543 | CNVD |
Gastrointestinal stromal cancer | 19259404 | CNVD |
Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
Myxofibrosarcoma | 16751306 | CNVD |
Immune disease | 21572526 | CNVD |
Non-small cell lung cancer | 21829676 | CNVD |
Ovarian neoplasms | 16753589 | CNVD |
Kallmann Syndrome 2 | 22470819 | CNVD |
Developmental disorder | 20461109 | CNVD |
abnormal development | 18461090 | CNVD |
Ovarian clear cell carcinoma | 21343371 | CNVD |
Glioblastoma multiforme | 21138945 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Breast cancer | 21364760 | CNVD |
Gastric cancer | 21811585 | CNVD |
Colorectal cancer | 16774939 | CNVD |
Acute lymphoblastic leukemia | 21390130 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Breast cancer | 22522925 | CNVD |
Renal cell carcinoma | 21215367 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr8:11218000-11237600 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
2 | chr8:11244600-11244800 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
3 | chr8:11244600-11248000 | Enhancers | Pancreas | Pancrea |
4 | chr8:11244800-11245000 | Enhancers | iPS DF 6.9 Cell Line | embryonic stem cell |
5 | chr8:11244800-11245200 | Enhancers | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
6 | chr8:11244800-11245600 | Enhancers | NHEK | skin |
7 | chr8:11245000-11245200 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
8 | chr8:11245200-11247800 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
9 | chr8:11245600-11247200 | Weak transcription | NHEK | skin |
10 | chr8:11246200-11246600 | Bivalent Enhancer | Fetal Adrenal Gland | Adrenal Gland |
11 | chr8:11246400-11246600 | Enhancers | Gastric | stomach |
12 | chr8:11246600-11250200 | Weak transcription | Gastric | stomach |