Variant report
Variant | nsv599243 |
---|---|
Chromosome Location | chr5:104432111-104509754 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:171)
- CpG islands (count:305)
- Chromatin interactive region (count:8)
- LncRNA region (count:2)
- 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 | ATF1 | chr5:104475478-104475496 | K562 | blood: | n/a | n/a |
2 | BCL11A | chr5:104502865-104503067 | H1-hESC | embryonic stem cell: | n/a | n/a |
3 | BRCA1 | chr5:104488401-104488414 | H1-hESC | embryonic stem cell: | n/a | n/a |
4 | CEBPB | chr5:104437346-104437647 | K562 | blood: | n/a | chr5:104437523-104437534 chr5:104437523-104437532 chr5:104437523-104437532 chr5:104437521-104437534 chr5:104437521-104437532 chr5:104437523-104437532 chr5:104437523-104437532 |
5 | CEBPB | chr5:104485721-104485921 | K562 | blood: | n/a | n/a |
6 | CEBPB | chr5:104437342-104437688 | Hela-S3 | cervix: | n/a | chr5:104437523-104437534 chr5:104437523-104437532 chr5:104437523-104437532 chr5:104437521-104437534 chr5:104437521-104437532 chr5:104437523-104437532 chr5:104437523-104437532 |
7 | CEBPB | chr5:104437345-104437662 | A549 | lung: | n/a | chr5:104437523-104437534 chr5:104437523-104437532 chr5:104437523-104437532 chr5:104437521-104437534 chr5:104437521-104437532 chr5:104437523-104437532 chr5:104437523-104437532 |
8 | CEBPB | chr5:104437246-104437795 | MCF-7 | breast: | n/a | chr5:104437523-104437534 chr5:104437523-104437532 chr5:104437523-104437532 chr5:104437521-104437534 chr5:104437521-104437532 chr5:104437523-104437532 chr5:104437523-104437532 |
9 | CEBPB | chr5:104484312-104484512 | H1-hESC | embryonic stem cell: | n/a | n/a |
10 | CEBPB | chr5:104437313-104437709 | MCF-7 | breast: | n/a | chr5:104437523-104437534 chr5:104437523-104437532 chr5:104437523-104437532 chr5:104437521-104437534 chr5:104437521-104437532 chr5:104437523-104437532 chr5:104437523-104437532 |
11 | CEBPB | chr5:104475627-104475670 | K562 | blood: | n/a | n/a |
12 | CEBPB | chr5:104437342-104437690 | HepG2 | liver: | n/a | chr5:104437523-104437534 chr5:104437523-104437532 chr5:104437523-104437532 chr5:104437521-104437534 chr5:104437521-104437532 chr5:104437523-104437532 chr5:104437523-104437532 |
13 | CEBPB | chr5:104475600-104475772 | HepG2 | liver: | n/a | n/a |
14 | CEBPB | chr5:104485759-104485906 | H1-hESC | embryonic stem cell: | n/a | n/a |
15 | CEBPB | chr5:104437386-104437647 | IMR90 | lung: | n/a | chr5:104437523-104437534 chr5:104437523-104437532 chr5:104437523-104437532 chr5:104437521-104437534 chr5:104437521-104437532 chr5:104437523-104437532 chr5:104437523-104437532 |
16 | CEBPB | chr5:104475581-104475765 | H1-hESC | embryonic stem cell: | n/a | n/a |
17 | CEBPB | chr5:104432081-104432193 | HepG2 | liver: | n/a | n/a |
18 | CEBPB | chr5:104437340-104437708 | ECC-1 | luminal epithelium: | n/a | chr5:104437523-104437534 chr5:104437523-104437532 chr5:104437523-104437532 chr5:104437521-104437534 chr5:104437521-104437532 chr5:104437523-104437532 chr5:104437523-104437532 |
19 | CEBPB | chr5:104437422-104437706 | ECC-1 | luminal epithelium: | n/a | chr5:104437523-104437534 chr5:104437523-104437532 chr5:104437523-104437532 chr5:104437521-104437534 chr5:104437521-104437532 chr5:104437523-104437532 chr5:104437523-104437532 |
20 | CEBPD | chr5:104494206-104494590 | K562 | blood: | n/a | n/a |
21 | CHD2 | chr5:104502938-104503111 | H1-hESC | embryonic stem cell: | n/a | n/a |
22 | CTCF | chr5:104497236-104497338 | Kidney_OC | kidney: | n/a | n/a |
23 | CTCF | chr5:104471360-104471510 | BE2_C | brain: | n/a | n/a |
24 | CTCF | chr5:104484404-104484489 | GM20000 | blood: | n/a | n/a |
25 | CTCF | chr5:104497253-104497340 | GM10248 | blood: | n/a | n/a |
26 | CTCF | chr5:104488600-104488750 | BE2_C | brain: | n/a | n/a |
27 | CTCF | chr5:104434155-104434241 | GM10248 | blood: | n/a | n/a |
28 | CTCF | chr5:104471340-104471490 | HEK293 | kidney: | n/a | n/a |
29 | CTCF | chr5:104448719-104448771 | LNCaP | prostate: | n/a | n/a |
30 | CTCF | chr5:104471380-104471530 | BE2_C | brain: | n/a | n/a |
31 | CTCF | chr5:104506078-104506095 | GM10266 | blood: | n/a | n/a |
32 | E2F4 | chr5:104445215-104445427 | MCF10A-Er-Src | breast: | n/a | n/a |
33 | E2F4 | chr5:104454303-104454460 | MCF10A-Er-Src | breast: | n/a | n/a |
34 | E2F4 | chr5:104480137-104480224 | MCF10A-Er-Src | breast: | n/a | n/a |
35 | E2F4 | chr5:104457846-104457897 | MCF10A-Er-Src | breast: | n/a | n/a |
36 | E2F4 | chr5:104474409-104474580 | MCF10A-Er-Src | breast: | n/a | n/a |
37 | E2F6 | chr5:104503661-104504240 | H1-hESC | embryonic stem cell: | n/a | n/a |
38 | EP300 | chr5:104459435-104459684 | SK-N-SH_RA | brain: | n/a | n/a |
39 | EP300 | chr5:104440417-104441093 | MCF-7 | breast: | n/a | chr5:104440714-104440724 |
40 | EP300 | chr5:104459190-104459771 | SK-N-SH | brain: | n/a | n/a |
41 | FOS | chr5:104474735-104475464 | MCF10A-Er-Src | breast: | n/a | chr5:104475167-104475176 chr5:104474905-104474912 |
42 | FOS | chr5:104474798-104475076 | MCF10A-Er-Src | breast: | n/a | chr5:104474905-104474912 |
43 | FOS | chr5:104504597-104504901 | MCF10A-Er-Src | breast: | n/a | n/a |
44 | FOS | chr5:104504628-104504892 | MCF10A-Er-Src | breast: | n/a | n/a |
45 | FOS | chr5:104504538-104504934 | MCF10A-Er-Src | breast: | n/a | n/a |
46 | FOS | chr5:104471540-104471776 | MCF10A-Er-Src | breast: | n/a | n/a |
47 | FOS | chr5:104482363-104482981 | MCF10A-Er-Src | breast: | n/a | chr5:104482738-104482745 chr5:104482737-104482746 chr5:104482463-104482471 chr5:104482737-104482745 chr5:104482733-104482744 chr5:104482943-104482955 chr5:104482735-104482747 |
48 | FOS | chr5:104436642-104436861 | MCF10A-Er-Src | breast: | n/a | n/a |
49 | FOS | chr5:104482562-104482919 | MCF10A-Er-Src | breast: | n/a | chr5:104482738-104482745 chr5:104482737-104482746 chr5:104482737-104482745 chr5:104482733-104482744 chr5:104482735-104482747 |
50 | FOS | chr5:104471540-104471774 | MCF10A-Er-Src | breast: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr5:104434827-104434877 | SAEC | small airway: | n/a |
2 | chr5:104435608-104435658 | HEK293 | kidney: | embryo |
3 | chr5:104433849-104433899 | PANC-1 | pancreas: | n/a |
4 | chr5:104435608-104435658 | HepG2 | liver: | n/a |
5 | chr5:104435608-104435658 | GM12892 | blood: | n/a |
6 | chr5:104435062-104435112 | HCT-116 | colon: | n/a |
7 | chr5:104435608-104435658 | NHBE | bronchial: | n/a |
8 | chr5:104435608-104435658 | HCF | heart: | n/a |
9 | chr5:104435062-104435112 | ECC-1 | luminal epithelium: | n/a |
10 | chr5:104433849-104433899 | MCF-7 | breast: | n/a |
11 | chr5:104434864-104434914 | HL-60 | blood: | n/a |
12 | chr5:104435608-104435658 | ovcar-3 | ovarian: | n/a |
13 | chr5:104435062-104435112 | AG10803 | skin: | n/a |
14 | chr5:104435062-104435112 | AG04449 | skin: | fetal |
15 | chr5:104435608-104435658 | BE2_C | brain: | n/a |
16 | chr5:104433849-104433899 | AG09309 | skin: | n/a |
17 | chr5:104434864-104434914 | PFSK-1 | brain: | n/a |
18 | chr5:104435062-104435112 | ProgFib | skin: | n/a |
19 | chr5:104434827-104434877 | HRE | kidney: | n/a |
20 | chr5:104435608-104435658 | Hela-S3 | cervix: | n/a |
21 | chr5:104433849-104433899 | Caco-2 | colon: | n/a |
22 | chr5:104433849-104433899 | GM06990 | blood: | n/a |
23 | chr5:104434864-104434914 | HAEpiC | amniotic membrane: | n/a |
24 | chr5:104435608-104435658 | H1-hESC | embryonic stem cell: | embryo |
25 | chr5:104434827-104434877 | H1-hESC | embryonic stem cell: | embryo |
26 | chr5:104433849-104433899 | HIPEpiC | eye: | n/a |
27 | chr5:104435608-104435658 | Jurkat | blood: | n/a |
28 | chr5:104435062-104435112 | SKMC | muscle: | n/a |
29 | chr5:104435062-104435112 | MCF-7 | breast: | n/a |
30 | chr5:104433849-104433899 | HAEpiC | amniotic membrane: | n/a |
31 | chr5:104435062-104435112 | RPTEC | kidney: | n/a |
32 | chr5:104435062-104435112 | A549 | lung: | n/a |
33 | chr5:104433849-104433899 | AG04449 | skin: | fetal |
34 | chr5:104435608-104435658 | SK-N-SH | brain: | n/a |
35 | chr5:104433849-104433899 | H1-hESC | embryonic stem cell: | embryo |
36 | chr5:104435608-104435658 | T-47D | breast: | n/a |
37 | chr5:104434827-104434877 | LNCaP | prostate: | n/a |
38 | chr5:104434827-104434877 | K562 | blood: | n/a |
39 | chr5:104435608-104435658 | PANC-1 | pancreas: | n/a |
40 | chr5:104434827-104434877 | MCF-7 | breast: | n/a |
41 | chr5:104435608-104435658 | U87 | brain: | n/a |
42 | chr5:104434827-104434877 | AG04449 | skin: | fetal |
43 | chr5:104435062-104435112 | NB4 | blood: | n/a |
44 | chr5:104435062-104435112 | U87 | brain: | n/a |
45 | chr5:104435062-104435112 | PANC-1 | pancreas: | n/a |
46 | chr5:104434827-104434877 | A549 | lung: | n/a |
47 | chr5:104434864-104434914 | HIPEpiC | eye: | n/a |
48 | chr5:104434827-104434877 | HL-60 | blood: | n/a |
49 | chr5:104434827-104434877 | NB4 | blood: | n/a |
50 | chr5:104434827-104434877 | PrEC | prostate: | n/a |
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr5:104454743..104457659-chr5:104458109..104460411,2 | MCF-7 | breast: | |
2 | chr5:104482838..104485793-chr5:104489379..104492370,3 | MCF-7 | breast: | |
3 | chr5:104438251..104441149-chr5:104441695..104444269,2 | K562 | blood: | |
4 | chr5:104454743..104457659-chr5:104458109..104460411,2 | MCF-7 | breast: | |
5 | chr5:104443161..104444832-chr5:104444978..104447101,2 | MCF-7 | breast: | |
6 | chr5:104438251..104441149-chr5:104441695..104444269,2 | K562 | blood: | |
7 | chr5:104482838..104485793-chr5:104489379..104492370,3 | MCF-7 | breast: | |
8 | chr5:104443161..104444832-chr5:104444978..104447101,2 | MCF-7 | breast: |
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-C5orf30-8 | chr5:104435174-104435799 | NONHSAT103096 |
2 | lnc-C5orf30-8 | chr5:104435175-104435799 | NR_000039 |
No data |
No data |
Variant related genes | Relation type |
---|---|
RAB9BP1 | TF binding region |
RAB9BP1 | CpG island |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs10057612 | chr5:104432111-104432112 | Inactive region | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
2 | rs555600852 | chr5:104432146-104432147 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
3 | rs546966782 | chr5:104432177-104432178 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
4 | rs568787140 | chr5:104432184-104432185 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
5 | rs530605715 | chr5:104433849-104433850 | Inactive region | CpG island | 1 gene(s) | Overlapped CNVs | n/a |
6 | rs556107057 | chr5:104433850-104433851 | Inactive region | CpG island | 1 gene(s) | Overlapped CNVs | n/a |
7 | rs35236313 | chr5:104433872-104433873 | Inactive region | CpG island | 1 gene(s) | Overlapped CNVs | n/a |
8 | rs77308345 | chr5:104433882-104433883 | Inactive region | CpG island | 1 gene(s) | Overlapped CNVs | n/a |
9 | rs78241771 | chr5:104433883-104433884 | Inactive region | CpG island | 1 gene(s) | Overlapped CNVs | n/a |
10 | rs59899617 | chr5:104433884-104433885 | Inactive region | CpG island | 1 gene(s) | Overlapped CNVs | n/a |
11 | rs12188361 | chr5:104433885-104433886 | Inactive region | CpG island | 1 gene(s) | Overlapped CNVs | n/a |
12 | rs75300601 | chr5:104433889-104433890 | Inactive region | CpG island | 1 gene(s) | Overlapped CNVs | n/a |
13 | rs528484481 | chr5:104434143-104434144 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
14 | rs551321946 | chr5:104434158-104434159 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
15 | rs528553596 | chr5:104434164-104434165 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
16 | rs141228676 | chr5:104434176-104434177 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
17 | rs537551295 | chr5:104434193-104434194 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
18 | rs550131897 | chr5:104434205-104434206 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
19 | rs144811796 | chr5:104434886-104434887 | Inactive region | CpG island | 1 gene(s) | Overlapped CNVs | n/a |
20 | rs6867650 | chr5:104434905-104434906 | Inactive region | CpG island | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
21 | rs558290687 | chr5:104435069-104435070 | Inactive region | CpG island | 1 gene(s) | Overlapped CNVs | n/a |
22 | rs370709411 | chr5:104435097-104435098 | Inactive region | CpG island | 1 gene(s) | Overlapped CNVs | n/a |
23 | rs535654178 | chr5:104435099-104435100 | Inactive region | CpG island | 1 gene(s) | Overlapped CNVs | n/a |
24 | rs536616860 | chr5:104435179-104435180 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
25 | rs557038797 | chr5:104435180-104435181 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
26 | rs192568215 | chr5:104435218-104435219 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
27 | rs543209502 | chr5:104435224-104435225 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
28 | rs148531807 | chr5:104435237-104435238 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
29 | rs573243211 | chr5:104435252-104435253 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
30 | rs184856961 | chr5:104435255-104435256 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
31 | rs564964702 | chr5:104435262-104435263 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
32 | rs113754985 | chr5:104435271-104435272 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
33 | rs188741095 | chr5:104435322-104435323 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
34 | rs554567220 | chr5:104435325-104435326 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
35 | rs530089782 | chr5:104435326-104435327 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
36 | rs549244157 | chr5:104435336-104435337 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
37 | rs565868782 | chr5:104435347-104435348 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
38 | rs534946537 | chr5:104435350-104435351 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
39 | rs4571441 | chr5:104435376-104435377 | Inactive region | lncRNA | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
40 | rs571419725 | chr5:104435424-104435425 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
41 | rs537062033 | chr5:104435446-104435447 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
42 | rs556638665 | chr5:104435483-104435484 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
43 | rs112353592 | chr5:104435498-104435499 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
44 | rs573727244 | chr5:104435499-104435500 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
45 | rs142876485 | chr5:104435512-104435513 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
46 | rs146533723 | chr5:104435514-104435515 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
47 | rs553186467 | chr5:104435515-104435516 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
48 | rs552576861 | chr5:104435533-104435534 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
49 | rs181452503 | chr5:104435588-104435589 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
50 | rs184447296 | chr5:104435602-104435603 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Metanephric adenoma | 20802469 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Acute lymphoblastic leukemia | 17690704 | CNVD |
Gastrointestinal stromal cancer | 16982739 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Phyllodes tumor | 17334353 | CNVD |
Malaria | 21533027 | CNVD |
Renal cell carcinoma | 19461508 | CNVD |
Cancer | 20164919 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Cancer | 16751803 | CNVD |
Intellectual disability | 22102821 | CNVD |
Breast cancer | 17603634 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Melanoma | 18172304 | CNVD |
Glioma | 20126413 | CNVD |
Breast cancer | 17393978 | CNVD |
Cancer | 21359685 | CNVD |
Non-small cell lung cancer | 21829676 | CNVD |
adenomatous polyposis | 22470819 | CNVD |
Cancer | 22429812 | CNVD |
Cancer | 21637783 | CNVD |
Colorectal cancer | 20709793 | CNVD |
Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
Liposarcoma | 21253554 | CNVD |
Acute lymphoblastic leukemia | 21390130 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Breast cancer | 21264507 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Glioblastoma multiforme | 17387387 | CNVD |
Breast cancer | 21858162 | CNVD |
Leukemia | 17361228 | CNVD |
Myelodysplastic syndrome | 18508791 | CNVD |
5q-syndrome | 17576883 | CNVD |
Gastric cancer | 17908304 | CNVD |
Lung cancer | 16740712 | CNVD |
Oral squamous cell carcinoma | 17134496 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Esophageal adenocarcinoma | 19417022 | CNVD |
Barrett''s syndrome | 19417022 | CNVD |
Lung cancer | 18438408 | CNVD |
Retinoblastoma | 22278416 | CNVD |
Bipolar disorder | 18458673 | CNVD |
Thyroid cancer | 19087340 | CNVD |
Breast cancer | 21785460 | CNVD |
Squamous cell cancer | 20885788 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Neurodevelopmental disorder | 22521361 | CNVD |
Prostate cancer | 18632612 | CNVD |
Breast cancer | 17133270 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Prostate cancer | 16573809 | CNVD |
Renal cell carcinoma | 18194544 | CNVD |
Chronic lymphocytic leukemia | 20421269 | CNVD |
Cancer | 20164920 | CNVD |
Myelodysplastic syndrome | 21251322 | CNVD |
abnormal development | 18461090 | CNVD |
Colorectal cancer | 16774939 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Acute lymphoblastic leukemia | 21339820 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Hodgkin''s lymphoma | 18641027 | CNVD |
Multiple myeloma | 17550852 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Chronic lymphocytic leukemia | 18922857 | CNVD |
Ovarian cancer | 21720365 | CNVD |
Neurocytoma | 17123091 | CNVD |
Salivary gland tumor | 18059337 | CNVD |
Breast cancer | 21509527 | CNVD |
Breast cancer | 16608533 | CNVD |
Obesity | 20622171 | CNVD |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
Schizophrenia | 23813976 | CNVD |
Lung cancer | 16773561 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr5:104437400-104438000 | Enhancers | Cortex derived primary cultured neurospheres | brain |
2 | chr5:104446800-104447200 | Enhancers | Primary hematopoietic stem cells short term culture | blood |
3 | chr5:104451200-104451400 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |
4 | chr5:104453600-104455000 | Enhancers | Fetal Adrenal Gland | Adrenal Gland |
5 | chr5:104459600-104460200 | Enhancers | Pancreatic Islets | Pancreatic Islet |
6 | chr5:104468200-104468800 | Enhancers | Brain Germinal Matrix | brain |
7 | chr5:104469400-104470600 | Enhancers | Liver | Liver |
8 | chr5:104472600-104473200 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
9 | chr5:104473200-104474200 | Weak transcription | Foreskin Melanocyte Primary Cells skin03 | Skin |
10 | chr5:104474200-104474400 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
11 | chr5:104485600-104486600 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
12 | chr5:104486000-104486600 | Enhancers | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
13 | chr5:104488800-104489000 | Enhancers | Fetal Lung | lung |
14 | chr5:104489000-104490800 | Weak transcription | Fetal Lung | lung |
15 | chr5:104490800-104491200 | ZNF genes & repeats | Fetal Lung | lung |
16 | chr5:104492600-104492800 | ZNF genes & repeats | Aorta | Aorta |
17 | chr5:104492800-104494200 | Weak transcription | Aorta | Aorta |
18 | chr5:104494000-104495600 | Enhancers | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
19 | chr5:104503600-104504400 | Enhancers | HUES48 Cell Line | embryonic stem cell |
20 | chr5:104503800-104504400 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
21 | chr5:104503800-104504600 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
22 | chr5:104503800-104504600 | Enhancers | Hela-S3 | cervix |
23 | chr5:104504400-104505400 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
24 | chr5:104505800-104506000 | Enhancers | ES-I3 Cell Line | embryonic stem cell |