Variant report
Variant | nsv1064128 |
---|---|
Chromosome Location | chr16:33487076-33827050 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:2654)
- CpG islands (count:1770)
- Chromatin interactive region (count:20)
- LncRNA region (count:17)
- 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 | ARID3A | chr16:33502987-33503033 | HepG2 | liver: | n/a | n/a |
2 | ARID3A | chr16:33577202-33577382 | HepG2 | liver: | n/a | n/a |
3 | ATF1 | chr16:33544959-33544976 | K562 | blood: | n/a | n/a |
4 | ATF1 | chr16:33535249-33535260 | K562 | blood: | n/a | n/a |
5 | ATF3 | chr16:33569376-33569681 | K562 | blood: | n/a | n/a |
6 | ATF3 | chr16:33619018-33619453 | K562 | blood: | n/a | n/a |
7 | ATF3 | chr16:33764110-33764276 | K562 | blood: | n/a | n/a |
8 | ATF3 | chr16:33569464-33569595 | GM12878 | blood: | n/a | n/a |
9 | BATF | chr16:33647061-33647311 | GM12878 | blood: | n/a | n/a |
10 | BATF | chr16:33524553-33524907 | GM12878 | blood: | n/a | chr16:33524743-33524752 |
11 | BATF | chr16:33521180-33521433 | GM12878 | blood: | n/a | n/a |
12 | BATF | chr16:33585762-33586003 | GM12878 | blood: | n/a | n/a |
13 | BATF | chr16:33716043-33716353 | GM12878 | blood: | n/a | n/a |
14 | BATF | chr16:33517629-33517889 | GM12878 | blood: | n/a | n/a |
15 | BATF | chr16:33673521-33673717 | GM12878 | blood: | n/a | n/a |
16 | BATF | chr16:33763898-33764246 | GM12878 | blood: | n/a | n/a |
17 | BATF | chr16:33722423-33722618 | GM12878 | blood: | n/a | n/a |
18 | BATF | chr16:33589201-33589438 | GM12878 | blood: | n/a | n/a |
19 | BATF | chr16:33521242-33521484 | GM12878 | blood: | n/a | n/a |
20 | BATF | chr16:33524710-33524926 | GM12878 | blood: | n/a | chr16:33524743-33524752 |
21 | BATF | chr16:33517619-33517865 | GM12878 | blood: | n/a | n/a |
22 | BATF | chr16:33563865-33564062 | GM12878 | blood: | n/a | n/a |
23 | BATF | chr16:33564248-33564454 | GM12878 | blood: | n/a | n/a |
24 | BCL11A | chr16:33524561-33524846 | GM12878 | blood: | n/a | n/a |
25 | BCL11A | chr16:33763969-33764256 | GM12878 | blood: | n/a | n/a |
26 | BCL11A | chr16:33521254-33521467 | GM12878 | blood: | n/a | n/a |
27 | BCL11A | chr16:33722347-33722700 | GM12878 | blood: | n/a | n/a |
28 | BCL11A | chr16:33493442-33493790 | GM12878 | blood: | n/a | n/a |
29 | BCL11A | chr16:33521194-33521489 | GM12878 | blood: | n/a | n/a |
30 | BCL11A | chr16:33492453-33492646 | GM12878 | blood: | n/a | n/a |
31 | BCL11A | chr16:33518137-33518397 | GM12878 | blood: | n/a | n/a |
32 | BCL11A | chr16:33647047-33647229 | GM12878 | blood: | n/a | n/a |
33 | BCL11A | chr16:33517674-33517848 | GM12878 | blood: | n/a | n/a |
34 | BCL11A | chr16:33585333-33585647 | GM12878 | blood: | n/a | n/a |
35 | BCL11A | chr16:33563810-33564006 | GM12878 | blood: | n/a | n/a |
36 | BCL11A | chr16:33722355-33722924 | GM12878 | blood: | n/a | n/a |
37 | BCL11A | chr16:33582517-33582748 | GM12878 | blood: | n/a | n/a |
38 | BCL11A | chr16:33664436-33664652 | GM12878 | blood: | n/a | n/a |
39 | BCL11A | chr16:33524471-33525029 | GM12878 | blood: | n/a | n/a |
40 | BCL11A | chr16:33589217-33589463 | GM12878 | blood: | n/a | n/a |
41 | BHLHE40 | chr16:33524786-33525031 | HepG2 | liver: | n/a | n/a |
42 | BHLHE40 | chr16:33507671-33507877 | HepG2 | liver: | n/a | n/a |
43 | BHLHE40 | chr16:33771097-33771304 | HepG2 | liver: | n/a | n/a |
44 | BHLHE40 | chr16:33569455-33569658 | K562 | blood: | n/a | n/a |
45 | BHLHE40 | chr16:33618946-33619398 | K562 | blood: | n/a | n/a |
46 | CBX3 | chr16:33618795-33619465 | K562 | blood: | n/a | n/a |
47 | CBX3 | chr16:33763911-33764377 | K562 | blood: | n/a | n/a |
48 | CBX3 | chr16:33715789-33716311 | K562 | blood: | n/a | n/a |
49 | CBX3 | chr16:33711192-33711411 | K562 | blood: | n/a | n/a |
50 | CBX3 | chr16:33763935-33764312 | K562 | blood: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr16:33821339-33821389 | GM06990 | blood: | n/a |
2 | chr16:33821339-33821389 | GM06990 | blood: | n/a |
3 | chr16:33510089-33510139 | BE2_C | brain: | n/a |
4 | chr16:33779917-33779967 | HRPEpiC | eye: | n/a |
5 | chr16:33510089-33510139 | T-47D | breast: | n/a |
6 | chr16:33573857-33573907 | Caco-2 | colon: | n/a |
7 | chr16:33821339-33821389 | NT2-D1 | testis: | n/a |
8 | chr16:33574151-33574201 | HNPCEpiC | eye: | n/a |
9 | chr16:33570021-33570071 | HL-60 | blood: | n/a |
10 | chr16:33730558-33730608 | BE2_C | brain: | n/a |
11 | chr16:33732255-33732305 | LNCaP | prostate: | n/a |
12 | chr16:33510089-33510139 | ECC-1 | luminal epithelium: | n/a |
13 | chr16:33730720-33730770 | GM12878 | blood: | n/a |
14 | chr16:33605185-33605235 | HCM | heart: | n/a |
15 | chr16:33776910-33776960 | HEEpiC | esophagus: | n/a |
16 | chr16:33571945-33571995 | NT2-D1 | testis: | n/a |
17 | chr16:33570021-33570071 | Jurkat | blood: | n/a |
18 | chr16:33783802-33783852 | NT2-D1 | testis: | n/a |
19 | chr16:33570115-33570165 | SK-N-SH | brain: | n/a |
20 | chr16:33732255-33732305 | HEK293 | kidney: | embryo |
21 | chr16:33627215-33627265 | HIPEpiC | eye: | n/a |
22 | chr16:33730539-33730589 | NHDF-neo | bronchial: | n/a |
23 | chr16:33571945-33571995 | HPAEpiC | pulmonary alveolar: | n/a |
24 | chr16:33815990-33816040 | AG10803 | skin: | n/a |
25 | chr16:33573857-33573907 | A549 | lung: | n/a |
26 | chr16:33730539-33730589 | T-47D | breast: | n/a |
27 | chr16:33730720-33730770 | RPTEC | kidney: | n/a |
28 | chr16:33817129-33817179 | PFSK-1 | brain: | n/a |
29 | chr16:33573272-33573322 | IMR90 | lung: | fetal |
30 | chr16:33573857-33573907 | HRCEpiC | kidney: | n/a |
31 | chr16:33573272-33573322 | HCM | heart: | n/a |
32 | chr16:33574151-33574201 | HepG2 | liver: | n/a |
33 | chr16:33783802-33783852 | HCM | heart: | n/a |
34 | chr16:33781365-33781415 | PANC-1 | pancreas: | n/a |
35 | chr16:33627215-33627265 | HEEpiC | esophagus: | n/a |
36 | chr16:33627215-33627265 | HCT-116 | colon: | n/a |
37 | chr16:33573857-33573907 | HPAEpiC | pulmonary alveolar: | n/a |
38 | chr16:33605185-33605235 | AoSMC | blood vessel: | n/a |
39 | chr16:33730539-33730589 | AG04450 | lung: | fetal |
40 | chr16:33783802-33783852 | LNCaP | prostate: | n/a |
41 | chr16:33573272-33573322 | NHBE | bronchial: | n/a |
42 | chr16:33574151-33574201 | NHBE | bronchial: | n/a |
43 | chr16:33509523-33509573 | HNPCEpiC | eye: | n/a |
44 | chr16:33818253-33818303 | NHDF-neo | bronchial: | n/a |
45 | chr16:33570115-33570165 | HCT-116 | colon: | n/a |
46 | chr16:33573857-33573907 | HAEpiC | amniotic membrane: | n/a |
47 | chr16:33734837-33734887 | Hepatocyte | liver: | n/a |
48 | chr16:33573857-33573907 | PrEC | prostate: | n/a |
49 | chr16:33734837-33734887 | HUVEC | blood vessel: | n/a |
50 | chr16:33818253-33818303 | HCM | heart: | n/a |
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr16:32951293..32951850-chr16:33618657..33619267,2 | MCF-7 | breast: | |
2 | chr16:33501621..33504383-chr16:33506713..33508666,2 | K562 | blood: | |
3 | chr16:32876653..32877208-chr16:33618895..33619446,2 | MCF-7 | breast: | |
4 | chr16:33535568..33538409-chr16:33539107..33541473,2 | K562 | blood: | |
5 | chr16:33618632..33619607-chr16:33646788..33647301,2 | MCF-7 | breast: | |
6 | chr16:33599590..33601128-chr16:33607194..33610110,2 | K562 | blood: | |
7 | chr14:107287133..107287781-chr16:33618600..33619120,3 | MCF-7 | breast: | |
8 | chr16:33501621..33504383-chr16:33506713..33508666,2 | K562 | blood: | |
9 | chr16:33599590..33601128-chr16:33607194..33610110,2 | K562 | blood: | |
10 | chr16:33618887..33619679-chr16:33739842..33740784,2 | MCF-7 | breast: | |
11 | chr16:33618632..33619607-chr16:33646788..33647301,2 | MCF-7 | breast: | |
12 | chr16:33618887..33619679-chr16:33739842..33740784,2 | MCF-7 | breast: | |
13 | chr16:33618869..33619686-chr16:33955996..33956882,3 | MCF-7 | breast: | |
14 | chr13:30046484..30047067-chr16:33618956..33619795,2 | MCF-7 | breast: | |
15 | chr16:32993835..32994354-chr16:33619041..33619624,2 | MCF-7 | breast: | |
16 | chr1:121484857..121485377-chr16:33618718..33619247,2 | MCF-7 | breast: | |
17 | chr16:33535568..33538409-chr16:33539107..33541473,2 | K562 | blood: | |
18 | chr16:33618975..33619481-chr6:120699536..120700074,2 | MCF-7 | breast: | |
19 | chr16:33618687..33619546-chr21:22589708..22590404,2 | MCF-7 | breast: | |
20 | chr16:33618559..33619759-chr16:33646461..33647717,8 | MCF-7 | breast: |
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-AC140658.1-3 | chr16:33750745-33751015 | NONHSAT142117 |
2 | lnc-AC140658.1-6 | chr16:33776833-33776957 | ENSG00000205452.4 |
3 | lnc-AC140658.1-6 | chr16:33778750-33778813 | ENSG00000205452.4 |
4 | lnc-AC140658.1-6 | chr16:33777320-33777532 | ENSG00000205452.4 |
5 | lnc-AC140658.1-6 | chr16:33775514-33776189 | ENSG00000205452.4 |
6 | lnc-AC136428.1.1-10 | chr16:33677506-33677808 | NONHSAT142113 |
7 | lnc-AC136428.1.1-1 | chr16:33661251-33661331 | ENSG00000260312.1 |
8 | lnc-AC136428.1.1-1 | chr16:33661001-33661077 | ENSG00000260312.1 |
9 | lnc-AC140658.1-5 | chr16:33768122-33768427 | NONHSAT142119 |
10 | lnc-AC140658.1-6 | chr16:33776476-33776670 | ENSG00000205452.4 |
11 | lnc-AC140658.1-6 | chr16:33775379-33776670 | ENSG00000205452.4 |
12 | lnc-AC140658.1-5 | chr16:33768513-33768558 | NONHSAT142119 |
13 | lnc-AC140658.1-6 | chr16:33776448-33776670 | ENSG00000205452.4 |
14 | lnc-AC140658.1-6 | chr16:33777416-33777550 | ENSG00000205452.4 |
15 | lnc-AC140658.1-6 | chr16:33777235-33777744 | ENSG00000205452.4 |
16 | lnc-AC136428.1.1-1 | chr16:33660402-33660589 | ENSG00000260312.1 |
17 | lnc-AC136428.1.1-10 | chr16:33677891-33677935 | NONHSAT142113 |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000261607 | TF binding region |
ENSG00000205452 | TF binding region |
ENSG00000260525 | TF binding region |
IGHV3OR16-16 | TF binding region |
ENSG00000261153 | TF binding region |
ENSG00000259680 | TF binding region |
ENSG00000260312 | TF binding region |
IGHV3OR16-12 | TF binding region |
ENSG00000270401 | TF binding region |
ENSG00000260308 | TF binding region |
ENSG00000261217 | TF binding region |
IGHV3OR16-11 | TF binding region |
IGHV3OR16-13 | TF binding region |
IGHV3OR16-7 | TF binding region |
ENSG00000261197 | TF binding region |
ENPP7P13 | TF binding region |
ENSG00000198555 | TF binding region |
ENSG00000271691 | TF binding region |
ENSG00000270924 | TF binding region |
ENSG00000259990 | TF binding region |
ARHGAP23P1 | TF binding region |
BMS1P8 | TF binding region |
ENSG00000261607 | CpG island |
ENSG00000205452 | CpG island |
ENSG00000260525 | CpG island |
IGHV3OR16-16 | CpG island |
ENSG00000261153 | CpG island |
ENSG00000259680 | CpG island |
ENSG00000260312 | CpG island |
IGHV3OR16-12 | CpG island |
ENSG00000270401 | CpG island |
ENSG00000260308 | CpG island |
ENSG00000261217 | CpG island |
IGHV3OR16-11 | CpG island |
IGHV3OR16-13 | CpG island |
IGHV3OR16-7 | CpG island |
ENSG00000261197 | CpG island |
ENPP7P13 | CpG island |
ENSG00000198555 | CpG island |
ENSG00000271691 | CpG island |
ENSG00000270924 | CpG island |
ENSG00000259990 | CpG island |
ARHGAP23P1 | CpG island |
BMS1P8 | CpG island |
ENSG00000259680 | chromatin interactions |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs571817970 | chr16:33487076-33487077 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs539333075 | chr16:33487077-33487078 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs556667560 | chr16:33487082-33487083 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs4887656 | chr16:33487095-33487096 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs536348287 | chr16:33487163-33487164 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs112914289 | chr16:33487175-33487176 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs554745891 | chr16:33487192-33487193 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs572984484 | chr16:33487215-33487216 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs540382151 | chr16:33487224-33487225 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs558810050 | chr16:33487232-33487233 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs577031875 | chr16:33487239-33487240 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs544531609 | chr16:33487240-33487241 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs4887657 | chr16:33487295-33487296 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs563513569 | chr16:33487299-33487300 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs530973241 | chr16:33487300-33487301 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs353757 | chr16:33487311-33487312 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs4887613 | chr16:33487321-33487322 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs542619277 | chr16:33487356-33487357 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs560997356 | chr16:33487375-33487376 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs528582657 | chr16:33487416-33487417 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs546755763 | chr16:33487431-33487432 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs571843954 | chr16:33487439-33487440 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs370911231 | chr16:33487462-33487463 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs4887658 | chr16:33487467-33487468 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs4887614 | chr16:33487521-33487522 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs551303113 | chr16:33487555-33487556 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs568752932 | chr16:33487561-33487562 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs4887659 | chr16:33487562-33487563 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs536215580 | chr16:33487605-33487606 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs141068067 | chr16:33487618-33487619 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs149183309 | chr16:33487619-33487620 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs144904478 | chr16:33487620-33487621 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs60156886 | chr16:33487622-33487623 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs557717801 | chr16:33487670-33487671 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs59116336 | chr16:33487723-33487724 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs533893038 | chr16:33487790-33487791 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs369225462 | chr16:33487821-33487822 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs572890905 | chr16:33487830-33487831 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs4887615 | chr16:33487878-33487879 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs576998144 | chr16:33487883-33487884 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs544177817 | chr16:33487889-33487890 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs556380494 | chr16:33487999-33488000 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs574645719 | chr16:33488033-33488034 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs542580954 | chr16:33488065-33488066 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs560959980 | chr16:33488090-33488091 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs540318321 | chr16:33488094-33488095 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs375907641 | chr16:33488145-33488146 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs572985320 | chr16:33488149-33488150 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs540355856 | chr16:33488156-33488157 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs565333092 | chr16:33488172-33488173 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Hodgkin''s lymphoma | 20651079 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Melanoma | 18172304 | CNVD |
Breast cancer | 16608533 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Breast cancer | 17133270 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Adenoid cystic carcinoma | 17372589 | CNVD |
Lung adenocarcinoma | 17086460 | CNVD |
Lung cancer | 17086460 | CNVD |
Autism | 22566537 | CNVD |
Intellectual disability | 22566537 | CNVD |
Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Astrocytoma | 17387387 | CNVD |
Breast cancer | 17603634 | CNVD |
Breast cancer | 21264507 | CNVD |
Cervical cancer | 21063398 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Acute lymphoblastic leukemia | 17690704 | CNVD |
Autism | 19415332 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
Schizophrenia | 22958593 | CNVD |
Ductal carcinoma | 22052326 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Autism | 22495311 | CNVD |
Breast cancer | 20668451 | CNVD |
Cancer | 20668451 | CNVD |
Lung cancer | 20668451 | CNVD |
Ovarian cancer | 20668451 | CNVD |
Pancreas cancer | 20668451 | CNVD |
Prostate cancer | 20668451 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Breast cancer | 21858162 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Mental retardation | 19951919 | CNVD |
Colorectal cancer | 16272173 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Breast cancer | 21785460 | CNVD |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
Breast cancer | 21990379 | CNVD |
Astrocytoma | 22246337 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Epilepsy | 22499536 | CNVD |
Attention deficit hyperactivity disorder | 21324949 | CNVD |
Austim spectrum disorder | 21302340 | CNVD |
Autism | 22513405 | CNVD |
Autism | 22958593 | CNVD |
Autism | 18184952 | CNVD |
Autism | 19966786 | CNVD |
Autism | 21394203 | CNVD |
Autism | 21969575 | CNVD |
Autism | 22241247 | CNVD |
Autism | 20970697 | CNVD |
Autism | 20942916 | CNVD |
Epilepsy | 20970697 | CNVD |
Intellectual disability | 22045946 | CNVD |
Mental retardation | 19966786 | CNVD |
Developmental delay | 20808231 | CNVD |
Obesity | 20808231 | CNVD |
Autism | 18923514 | CNVD |
Obesity | 21881559 | CNVD |
Obesity | 21956041 | CNVD |
Autism | 20659124 | CNVD |
Mental retardation | 21062444 | CNVD |
Schizophrenia | 20587603 | CNVD |
Schizophrenia | 21285140 | CNVD |
Schizophrenia | 22885689 | CNVD |
Schizophrenia | 20553308 | CNVD |
Schizophrenia | 20970697 | CNVD |
Schizophrenia | 20433910 | CNVD |
Schizophrenia | 22241247 | CNVD |
Autism | 19242545 | CNVD |
Primary central nervous system lymphoma | 21088137 | CNVD |
Intracranial ependymoma | 16609018 | CNVD |
Schizophrenia | 21399695 | CNVD |
Autism | 21956041 | CNVD |
Disorders of sex development | 21048976 | CNVD |
Autism | 22067053 | CNVD |
Autism | 18156158 | CNVD |
Mental retardation | 20152051 | CNVD |
Autism | 19218893 | CNVD |
Autism | 21289514 | CNVD |
Schizophrenia | 19855392 | CNVD |
neurodevelopmental Syndrome | 20503337 | CNVD |
Benign familial neonatal-infantile seizures | 21060786 | CNVD |
Low-grade fibromyxoid sarcoma | 0 | CNVD |
Cancer | 21183584 | CNVD |
Low-grade fibromyxoid sarcoma | 21536545 | CNVD |
Breast cancer | 21045282 | CNVD |
Neuroblastoma | 20406844 | CNVD |
Autism | 19050728 | CNVD |
Epilepsy | 20923578 | CNVD |
Psychiatric disorder | 19050728 | CNVD |
Schizophrenia | 19348701 | CNVD |
Attention deficit hyperactivity disorder | 19097825 | CNVD |
Autism | 20964600 | CNVD |
Schizophrenia | 19955444 | CNVD |
Schizophrenia | 18990708 | CNVD |
Schizophrenia | 19571808 | CNVD |
Breast cancer | 20409316 | CNVD |
Severe combined immunodeficiency | 19097825 | CNVD |
Esophageal squamous carcinoma | 18350619 | CNVD |
Autism | 18522746 | CNVD |
Sezary syndrome | 18413736 | CNVD |
Wilms tumour | 21544195 | CNVD |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
Cancer | 20164920 | CNVD |
Autism | 19287141 | CNVD |
Schizophrenia | 20967226 | CNVD |
Breast cancer | 17142309 | CNVD |
Cancer | 20164919 | CNVD |
Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
Non-syndromic sensorineural hearing loss | 22297974 | CNVD |
Lung cancer | 18438408 | CNVD |
Breast cancer | 21509527 | CNVD |
early-passage human iPS cells | 21368824 | CNVD |
Breast cancer | 21364760 | CNVD |
Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
Breast cancer | 22522925 | CNVD |
Stenocardia | 21860640 | CNVD |
Vasospasm | 21860640 | CNVD |
Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
Glioma | 20126413 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr16:33483400-33488200 | Weak transcription | Placenta | Placenta |
2 | chr16:33488200-33488400 | Enhancers | Pancreas | Pancrea |
3 | chr16:33488200-33488400 | ZNF genes & repeats | Right Atrium | heart |
4 | chr16:33488200-33490600 | Strong transcription | Placenta | Placenta |
5 | chr16:33490600-33508400 | Weak transcription | Placenta | Placenta |
6 | chr16:33492600-33493200 | ZNF genes & repeats | iPS-20b Cell Line | embryonic stem cell |
7 | chr16:33492600-33493400 | Enhancers | Breast Myoepithelial Primary Cells | Breast |
8 | chr16:33494400-33494800 | ZNF genes & repeats | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
9 | chr16:33503000-33503600 | Enhancers | HepG2 | liver |
10 | chr16:33508400-33509000 | Enhancers | Placenta | Placenta |
11 | chr16:33508400-33510400 | ZNF genes & repeats | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
12 | chr16:33509000-33509400 | Flanking Active TSS | Placenta | Placenta |
13 | chr16:33509000-33510400 | ZNF genes & repeats | HUES64 Cell Line | embryonic stem cell |
14 | chr16:33509000-33510400 | Active TSS | Right Ventricle | heart |
15 | chr16:33509000-33510600 | ZNF genes & repeats | hESC Derived CD56+ Mesoderm Cultured Cells | ES cell derived |
16 | chr16:33509000-33510600 | ZNF genes & repeats | IMR90 fetal lung fibroblasts Cell Line | lung |
17 | chr16:33509000-33510600 | Active TSS | K562 | blood |
18 | chr16:33509200-33509800 | Active TSS | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
19 | chr16:33509200-33510400 | Active TSS | Psoas Muscle | Psoas |
20 | chr16:33509200-33510600 | Active TSS | iPS-18 Cell Line | embryonic stem cell |
21 | chr16:33509200-33510600 | Active TSS | Thymus | Thymus |
22 | chr16:33509400-33509800 | Active TSS | Placenta | Placenta |
23 | chr16:33509400-33510000 | Active TSS | Left Ventricle | heart |
24 | chr16:33509400-33510400 | Active TSS | HSMM | muscle |
25 | chr16:33509400-33510600 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |
26 | chr16:33509800-33510000 | Flanking Bivalent TSS/Enh | Placenta | Placenta |
27 | chr16:33509800-33510200 | Active TSS | Small Intestine | intestine |
28 | chr16:33509800-33510400 | ZNF genes & repeats | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
29 | chr16:33509800-33510600 | ZNF genes & repeats | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
30 | chr16:33510000-33510400 | Flanking Active TSS | Placenta | Placenta |
31 | chr16:33510000-33510400 | Active TSS | Osteobl | bone |
32 | chr16:33510400-33510600 | Active TSS | Placenta | Placenta |
33 | chr16:33510400-33512000 | Weak transcription | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
34 | chr16:33510400-33515000 | Weak transcription | Right Ventricle | heart |
35 | chr16:33510800-33512000 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
36 | chr16:33511800-33512400 | ZNF genes & repeats | H1 Derived Mesenchymal Stem Cells | ES cell derived |
37 | chr16:33512000-33512200 | Enhancers | Pancreas | Pancrea |
38 | chr16:33512000-33516400 | ZNF genes & repeats | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
39 | chr16:33512000-33516600 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |
40 | chr16:33512400-33513800 | ZNF genes & repeats | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
41 | chr16:33513000-33516200 | Enhancers | Breast Myoepithelial Primary Cells | Breast |
42 | chr16:33513200-33513400 | ZNF genes & repeats | Gastric | stomach |
43 | chr16:33514800-33516000 | ZNF genes & repeats | H1 Derived Mesenchymal Stem Cells | ES cell derived |
44 | chr16:33515000-33515600 | Enhancers | Right Ventricle | heart |
45 | chr16:33515200-33515400 | ZNF genes & repeats | Foreskin Keratinocyte Primary Cells skin02 | Skin |
46 | chr16:33515400-33516600 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
47 | chr16:33515600-33516200 | Weak transcription | Right Ventricle | heart |
48 | chr16:33515800-33516200 | ZNF genes & repeats | iPS-15b Cell Line | embryonic stem cell |
49 | chr16:33516200-33516400 | Enhancers | Right Ventricle | heart |
50 | chr16:33529600-33542200 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |