Variant report
Variant | nsv911518 |
---|---|
Chromosome Location | chr19:27778828-28144500 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:1357)
- CpG islands (count:0)
- Chromatin interactive region (count:4)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | BACH1 | chr19:27941380-27941399 | K562 | blood: | n/a | n/a |
2 | BACH1 | chr19:27907624-27907648 | K562 | blood: | n/a | n/a |
3 | BACH1 | chr19:27888281-27888308 | K562 | blood: | n/a | n/a |
4 | BACH1 | chr19:27781704-27781731 | K562 | blood: | n/a | n/a |
5 | BACH1 | chr19:28105728-28106101 | H1-hESC | embryonic stem cell: | n/a | n/a |
6 | BATF | chr19:27902659-27902917 | GM12878 | blood: | n/a | n/a |
7 | BATF | chr19:27804588-27804797 | GM12878 | blood: | n/a | n/a |
8 | BATF | chr19:27789536-27789809 | GM12878 | blood: | n/a | n/a |
9 | BATF | chr19:27899029-27899326 | GM12878 | blood: | n/a | n/a |
10 | BATF | chr19:27802596-27802885 | GM12878 | blood: | n/a | n/a |
11 | BATF | chr19:27789809-27790085 | GM12878 | blood: | n/a | n/a |
12 | BATF | chr19:27902669-27902979 | GM12878 | blood: | n/a | n/a |
13 | BATF | chr19:27793473-27794218 | GM12878 | blood: | n/a | n/a |
14 | BATF | chr19:27897158-27897472 | GM12878 | blood: | n/a | n/a |
15 | BATF | chr19:27821568-27821883 | GM12878 | blood: | n/a | n/a |
16 | BATF | chr19:27806827-27807070 | GM12878 | blood: | n/a | n/a |
17 | BATF | chr19:27897153-27897445 | GM12878 | blood: | n/a | n/a |
18 | BATF | chr19:27904673-27904894 | GM12878 | blood: | n/a | n/a |
19 | BATF | chr19:27899139-27899310 | GM12878 | blood: | n/a | n/a |
20 | BATF | chr19:27784638-27785020 | GM12878 | blood: | n/a | n/a |
21 | BATF | chr19:27865050-27865350 | GM12878 | blood: | n/a | n/a |
22 | BATF | chr19:27793546-27793806 | GM12878 | blood: | n/a | n/a |
23 | BATF | chr19:27880551-27880779 | GM12878 | blood: | n/a | n/a |
24 | BATF | chr19:27778795-27779115 | GM12878 | blood: | n/a | n/a |
25 | BATF | chr19:27868294-27868587 | GM12878 | blood: | n/a | n/a |
26 | BATF | chr19:27789516-27789763 | GM12878 | blood: | n/a | n/a |
27 | BATF | chr19:27814882-27815052 | GM12878 | blood: | n/a | n/a |
28 | BATF | chr19:27860263-27860475 | GM12878 | blood: | n/a | n/a |
29 | BATF | chr19:27783974-27784132 | GM12878 | blood: | n/a | n/a |
30 | BCL11A | chr19:27868323-27868579 | GM12878 | blood: | n/a | n/a |
31 | BCL11A | chr19:27797694-27797891 | GM12878 | blood: | n/a | n/a |
32 | BCL11A | chr19:27793562-27793729 | GM12878 | blood: | n/a | n/a |
33 | BCL11A | chr19:27868266-27868675 | GM12878 | blood: | n/a | n/a |
34 | BCL11A | chr19:27778778-27779008 | GM12878 | blood: | n/a | n/a |
35 | BCL11A | chr19:27789441-27790105 | GM12878 | blood: | n/a | n/a |
36 | BCL11A | chr19:27793740-27793964 | GM12878 | blood: | n/a | n/a |
37 | BCL11A | chr19:27778764-27779184 | GM12878 | blood: | n/a | n/a |
38 | BCL11A | chr19:27858205-27858422 | GM12878 | blood: | n/a | n/a |
39 | BCL11A | chr19:27902643-27903061 | GM12878 | blood: | n/a | n/a |
40 | BCL11A | chr19:27897169-27897439 | GM12878 | blood: | n/a | n/a |
41 | BCL11A | chr19:27899071-27899250 | GM12878 | blood: | n/a | n/a |
42 | BCL11A | chr19:27897065-27897511 | GM12878 | blood: | n/a | n/a |
43 | BCL11A | chr19:27793574-27793997 | GM12878 | blood: | n/a | n/a |
44 | BCL11A | chr19:27902664-27902911 | GM12878 | blood: | n/a | n/a |
45 | BCL11A | chr19:27802586-27802917 | GM12878 | blood: | n/a | n/a |
46 | BCL11A | chr19:27789538-27789982 | GM12878 | blood: | n/a | n/a |
47 | BCL11A | chr19:27784614-27784859 | GM12878 | blood: | n/a | n/a |
48 | BCL11A | chr19:27806754-27807054 | GM12878 | blood: | n/a | n/a |
49 | BHLHE40 | chr19:27860251-27860624 | HepG2 | liver: | n/a | n/a |
50 | BHLHE40 | chr19:27812791-27812976 | HepG2 | liver: | n/a | n/a |
No data |
(count:4 , 50 per page) page:
1
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr18:18518469..18519030-chr19:27812381..27812905,2 | MCF-7 | breast: | |
2 | chr19:27920492..27922596-chr19:29749954..29752655,2 | K562 | blood: | |
3 | chr19:27961286..27961807-chr8:46850621..46851139,2 | MCF-7 | breast: | |
4 | chr19:27812380..27812881-chr7:58041614..58042119,2 | MCF-7 | breast: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000267696 | TF binding region |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs28862711 | chr19:27778828-27778829 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs141004451 | chr19:27778830-27778831 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs146289626 | chr19:27778835-27778836 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs370789723 | chr19:27778841-27778842 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs542865212 | chr19:27778846-27778847 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs373927622 | chr19:27778849-27778850 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs375701912 | chr19:27778852-27778853 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs370021219 | chr19:27778854-27778855 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs373700731 | chr19:27778855-27778856 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs202109316 | chr19:27778856-27778857 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs368962991 | chr19:27778862-27778863 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs528677774 | chr19:27778863-27778864 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs62135805 | chr19:27778868-27778869 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs375241436 | chr19:27778869-27778870 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs62135806 | chr19:27778872-27778873 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs547343630 | chr19:27778877-27778878 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs184443634 | chr19:27778880-27778881 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs372116048 | chr19:27778883-27778884 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs62135807 | chr19:27778887-27778888 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs62135808 | chr19:27778890-27778891 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs376742545 | chr19:27778893-27778894 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs377666087 | chr19:27778900-27778901 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs112000555 | chr19:27778901-27778902 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs367966674 | chr19:27778910-27778911 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs62135809 | chr19:27778914-27778915 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs568975624 | chr19:27778915-27778916 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs536304250 | chr19:27778918-27778919 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs554357316 | chr19:27778923-27778924 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs62135810 | chr19:27778928-27778929 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs62135811 | chr19:27778930-27778931 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs62135812 | chr19:27778936-27778937 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs62135813 | chr19:27778941-27778942 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs370186202 | chr19:27778944-27778945 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs533732966 | chr19:27778946-27778947 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs62135814 | chr19:27778947-27778948 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs62135815 | chr19:27778949-27778950 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs187685912 | chr19:27778954-27778955 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs376546255 | chr19:27778959-27778960 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs369439289 | chr19:27778961-27778962 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs538654029 | chr19:27778965-27778966 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs570782800 | chr19:27778966-27778967 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs62135816 | chr19:27778967-27778968 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs111345317 | chr19:27778977-27778978 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs376084008 | chr19:27778978-27778979 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs370438814 | chr19:27778979-27778980 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs111663061 | chr19:27778981-27778982 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs372597221 | chr19:27778990-27778991 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs376065976 | chr19:27778991-27778992 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs371570889 | chr19:27778992-27778993 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs374431628 | chr19:27778997-27778998 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Oligodendroglial tumors | 17285580 | CNVD |
Oral cancer | 21386901 | CNVD |
ovarian endometriomas | 16273235 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Breast cancer | 21264507 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 17387387 | CNVD |
Cervical cancer | 21063398 | CNVD |
Myelodysplastic syndrome | 17634407 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Chordoma | 21602918 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Cancer | 21637783 | CNVD |
Retinoblastoma | 21504564 | CNVD |
Ovarian cancer | 21720365 | CNVD |
Cancer | 20164919 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Prostate cancer | 18632612 | CNVD |
Autism | 22495311 | CNVD |
Acute lymphoblastic leukemia | 21248843 | CNVD |
Adenoid cystic carcinoma | 18698036 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Ductal carcinoma | 22052326 | CNVD |
Cancer | 20164920 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Renal cell carcinoma | 18194544 | CNVD |
Pleomorphic liposarcoma | 18784837 | CNVD |
Autism | 19287141 | CNVD |
Lung cancer | 18438408 | CNVD |
Congenital nephrotic syndrome | 18421352 | CNVD |
Astrocytoma | 17934521 | CNVD |
Leukemia | 17361228 | CNVD |
Adenoid cystic carcinoma | 17372589 | CNVD |
Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr19:27768600-27782600 | Weak transcription | K562 | blood |
2 | chr19:27777400-27782600 | ZNF genes & repeats | iPS-18 Cell Line | embryonic stem cell |
3 | chr19:27777400-27785200 | ZNF genes & repeats | HUES64 Cell Line | embryonic stem cell |
4 | chr19:27777800-27779000 | ZNF genes & repeats | Liver | Liver |
5 | chr19:27777800-27784600 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
6 | chr19:27778400-27784400 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
7 | chr19:27778600-27779400 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |
8 | chr19:27778800-27779000 | ZNF genes & repeats | Primary hematopoietic stem cells | blood |
9 | chr19:27778800-27779000 | ZNF genes & repeats | Placenta Amnion | Placenta Amnion |
10 | chr19:27778800-27779000 | ZNF genes & repeats | HSMMtube | muscle |
11 | chr19:27778800-27779200 | ZNF genes & repeats | HMEC | breast |
12 | chr19:27778800-27779200 | ZNF genes & repeats | HUVEC | blood vessel |
13 | chr19:27781600-27781800 | ZNF genes & repeats | ES-I3 Cell Line | embryonic stem cell |
14 | chr19:27788400-27788800 | Weak transcription | HUVEC | blood vessel |
15 | chr19:27788400-27795200 | ZNF genes & repeats | iPS-18 Cell Line | embryonic stem cell |
16 | chr19:27788600-27806600 | ZNF genes & repeats | HUES64 Cell Line | embryonic stem cell |
17 | chr19:27788800-27789200 | Active TSS | NHLF | lung |
18 | chr19:27788800-27789600 | ZNF genes & repeats | HUVEC | blood vessel |
19 | chr19:27788800-27790600 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
20 | chr19:27788800-27808600 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
21 | chr19:27789000-27795400 | ZNF genes & repeats | iPS-20b Cell Line | embryonic stem cell |
22 | chr19:27789600-27789800 | ZNF genes & repeats | ES-I3 Cell Line | embryonic stem cell |
23 | chr19:27789600-27789800 | ZNF genes & repeats | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
24 | chr19:27789600-27790000 | ZNF genes & repeats | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
25 | chr19:27789600-27791600 | Weak transcription | HUVEC | blood vessel |
26 | chr19:27789600-27794200 | ZNF genes & repeats | HUES6 Cell Line | embryonic stem cell |
27 | chr19:27790000-27791600 | Weak transcription | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
28 | chr19:27791600-27791800 | ZNF genes & repeats | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
29 | chr19:27791600-27791800 | ZNF genes & repeats | iPS DF 6.9 Cell Line | embryonic stem cell |
30 | chr19:27791600-27791800 | ZNF genes & repeats | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
31 | chr19:27791600-27791800 | ZNF genes & repeats | Primary T helper memory cells from peripheral blood 2 | blood |
32 | chr19:27791600-27791800 | ZNF genes & repeats | Primary T helper memory cells from peripheral blood 1 | blood |
33 | chr19:27791600-27791800 | ZNF genes & repeats | Primary T helper 17 cells PMA-I stimulated | -- |
34 | chr19:27791600-27791800 | ZNF genes & repeats | Primary T cells effector/memory enriched fromperipheralblood | blood |
35 | chr19:27791600-27791800 | ZNF genes & repeats | Primary T killer memory cells from peripheral blood | blood |
36 | chr19:27791600-27791800 | ZNF genes & repeats | Adipose Nuclei | Adipose |
37 | chr19:27791600-27791800 | ZNF genes & repeats | Liver | Liver |
38 | chr19:27791600-27791800 | ZNF genes & repeats | Brain Inferior Temporal Lobe | brain |
39 | chr19:27791600-27791800 | ZNF genes & repeats | Brain Substantia Nigra | brain |
40 | chr19:27791600-27791800 | ZNF genes & repeats | Fetal Brain Male | brain |
41 | chr19:27791600-27791800 | ZNF genes & repeats | Fetal Heart | heart |
42 | chr19:27791600-27791800 | ZNF genes & repeats | Fetal Kidney | kidney |
43 | chr19:27791600-27791800 | ZNF genes & repeats | Fetal Lung | lung |
44 | chr19:27791600-27791800 | ZNF genes & repeats | Rectal Mucosa Donor 31 | rectum |
45 | chr19:27791600-27791800 | ZNF genes & repeats | Stomach Mucosa | stomach |
46 | chr19:27791600-27791800 | ZNF genes & repeats | GM12878-XiMat | blood |
47 | chr19:27791600-27791800 | ZNF genes & repeats | HUVEC | blood vessel |
48 | chr19:27791800-27793600 | Weak transcription | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
49 | chr19:27791800-27793600 | Weak transcription | Primary T helper memory cells from peripheral blood 1 | blood |
50 | chr19:27791800-27793600 | Weak transcription | Primary T cells effector/memory enriched fromperipheralblood | blood |