Variant report
Variant | nsv948531 |
---|---|
Chromosome Location | chr7:122386967-123191974 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:5454)
- CpG islands (count:3175)
- Chromatin interactive region (count:324)
- LncRNA region (count:19)
- 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 | chr7:123177029-123177498 | HepG2 | liver: | n/a | n/a |
2 | ARID3A | chr7:122794371-122794672 | HepG2 | liver: | n/a | n/a |
3 | ARID3A | chr7:122443416-122443772 | HepG2 | liver: | n/a | n/a |
4 | ARID3A | chr7:122523982-122524287 | HepG2 | liver: | n/a | n/a |
5 | ARID3A | chr7:122831360-122831634 | HepG2 | liver: | n/a | n/a |
6 | ARID3A | chr7:123178158-123178815 | K562 | blood: | n/a | n/a |
7 | ARID3A | chr7:122526484-122526694 | HepG2 | liver: | n/a | n/a |
8 | ARID3A | chr7:122488996-122489769 | HepG2 | liver: | n/a | n/a |
9 | ARID3A | chr7:122397065-122397362 | HepG2 | liver: | n/a | n/a |
10 | ARID3A | chr7:123065311-123065528 | HepG2 | liver: | n/a | n/a |
11 | ARID3A | chr7:123138642-123139026 | K562 | blood: | n/a | n/a |
12 | ARID3A | chr7:123174946-123174990 | HepG2 | liver: | n/a | n/a |
13 | ARID3A | chr7:123168451-123169531 | K562 | blood: | n/a | n/a |
14 | ARID3A | chr7:122527046-122527681 | HepG2 | liver: | n/a | n/a |
15 | ARID3A | chr7:122525653-122525930 | HepG2 | liver: | n/a | n/a |
16 | ARID3A | chr7:123134265-123134661 | HepG2 | liver: | n/a | n/a |
17 | ARID3A | chr7:123176826-123177595 | K562 | blood: | n/a | n/a |
18 | ARID3A | chr7:122431984-122432331 | HepG2 | liver: | n/a | n/a |
19 | ARID3A | chr7:122467950-122468098 | HepG2 | liver: | n/a | n/a |
20 | ARID3A | chr7:123134260-123134863 | K562 | blood: | n/a | n/a |
21 | ATF1 | chr7:123137229-123137308 | K562 | blood: | n/a | n/a |
22 | ATF1 | chr7:123077682-123077882 | K562 | blood: | n/a | n/a |
23 | ATF1 | chr7:123149564-123149566 | K562 | blood: | n/a | n/a |
24 | ATF1 | chr7:123065511-123065638 | K562 | blood: | n/a | n/a |
25 | ATF1 | chr7:122854532-122854595 | K562 | blood: | n/a | n/a |
26 | ATF1 | chr7:122794273-122794661 | K562 | blood: | n/a | n/a |
27 | ATF1 | chr7:123138665-123139069 | K562 | blood: | n/a | n/a |
28 | ATF1 | chr7:123125219-123125462 | K562 | blood: | n/a | n/a |
29 | ATF1 | chr7:123178202-123178535 | K562 | blood: | n/a | n/a |
30 | ATF1 | chr7:122641820-122641853 | K562 | blood: | n/a | n/a |
31 | ATF1 | chr7:123055773-123055963 | K562 | blood: | n/a | n/a |
32 | ATF1 | chr7:123134304-123134504 | K562 | blood: | n/a | n/a |
33 | ATF1 | chr7:123141162-123141345 | K562 | blood: | n/a | n/a |
34 | ATF2 | chr7:122794224-122794703 | H1-hESC | embryonic stem cell: | n/a | n/a |
35 | ATF2 | chr7:123080109-123080694 | H1-hESC | embryonic stem cell: | n/a | n/a |
36 | ATF2 | chr7:122829987-122830921 | GM12878 | blood: | n/a | n/a |
37 | ATF2 | chr7:122794188-122794655 | GM12878 | blood: | n/a | n/a |
38 | ATF2 | chr7:122794171-122794733 | H1-hESC | embryonic stem cell: | n/a | n/a |
39 | ATF2 | chr7:122794208-122794716 | GM12878 | blood: | n/a | n/a |
40 | ATF2 | chr7:122830143-122830769 | GM12878 | blood: | n/a | n/a |
41 | ATF3 | chr7:123178108-123178691 | K562 | blood: | n/a | n/a |
42 | ATF3 | chr7:122794194-122794569 | K562 | blood: | n/a | n/a |
43 | ATF3 | chr7:122925096-122925470 | H1-hESC | embryonic stem cell: | n/a | n/a |
44 | BACH1 | chr7:123178080-123178615 | K562 | blood: | n/a | n/a |
45 | BACH1 | chr7:123134233-123134383 | H1-hESC | embryonic stem cell: | n/a | n/a |
46 | BACH1 | chr7:123139588-123139686 | K562 | blood: | n/a | n/a |
47 | BACH1 | chr7:122410986-122410996 | H1-hESC | embryonic stem cell: | n/a | n/a |
48 | BACH1 | chr7:123175379-123175562 | H1-hESC | embryonic stem cell: | n/a | n/a |
49 | BACH1 | chr7:123175401-123175620 | K562 | blood: | n/a | n/a |
50 | BACH1 | chr7:122526369-122527153 | H1-hESC | embryonic stem cell: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr7:122526763-122526813 | A549 | lung: | n/a |
2 | chr7:122587034-122587084 | PFSK-1 | brain: | n/a |
3 | chr7:122925263-122925313 | BE2_C | brain: | n/a |
4 | chr7:122526763-122526813 | A549 | lung: | n/a |
5 | chr7:122587034-122587084 | PFSK-1 | brain: | n/a |
6 | chr7:122925263-122925313 | BE2_C | brain: | n/a |
7 | chr7:123174614-123174664 | LNCaP | prostate: | n/a |
8 | chr7:122526763-122526813 | ProgFib | skin: | n/a |
9 | chr7:123174614-123174664 | MCF10A-Er-Src | breast: | n/a |
10 | chr7:122636635-122636685 | HL-60 | blood: | n/a |
11 | chr7:122526824-122526874 | CMK | blood: | n/a |
12 | chr7:122388911-122388961 | K562 | blood: | n/a |
13 | chr7:123181238-123181288 | IMR90 | lung: | fetal |
14 | chr7:122527472-122527522 | HEEpiC | esophagus: | n/a |
15 | chr7:122526826-122526876 | HRE | kidney: | n/a |
16 | chr7:122526572-122526622 | AG10803 | skin: | n/a |
17 | chr7:122525974-122526024 | HAEpiC | amniotic membrane: | n/a |
18 | chr7:123175289-123175339 | ECC-1 | luminal epithelium: | n/a |
19 | chr7:122527522-122527572 | A549 | lung: | n/a |
20 | chr7:122388911-122388961 | AoSMC | blood vessel: | n/a |
21 | chr7:122526940-122526990 | HAEpiC | amniotic membrane: | n/a |
22 | chr7:122527472-122527522 | HRE | kidney: | n/a |
23 | chr7:122526824-122526874 | GM12878 | blood: | n/a |
24 | chr7:122839955-122840005 | GM19239 | blood: | n/a |
25 | chr7:122526940-122526990 | AoSMC | blood vessel: | n/a |
26 | chr7:122526408-122526458 | K562 | blood: | n/a |
27 | chr7:122526826-122526876 | ProgFib | skin: | n/a |
28 | chr7:122635026-122635076 | HEK293 | kidney: | embryo |
29 | chr7:123174614-123174664 | NT2-D1 | testis: | n/a |
30 | chr7:123092768-123092818 | PANC-1 | pancreas: | n/a |
31 | chr7:123092768-123092818 | HCPEpiC | choroid plexus: | n/a |
32 | chr7:122636635-122636685 | H1-hESC | embryonic stem cell: | embryo |
33 | chr7:122953117-122953167 | RPTEC | kidney: | n/a |
34 | chr7:122839955-122840005 | CMK | blood: | n/a |
35 | chr7:122527437-122527487 | SAEC | small airway: | n/a |
36 | chr7:122527437-122527487 | K562 | blood: | n/a |
37 | chr7:123175466-123175516 | MCF10A-Er-Src | breast: | n/a |
38 | chr7:122526763-122526813 | RPTEC | kidney: | n/a |
39 | chr7:123175289-123175339 | SK-N-SH_RA | brain: | n/a |
40 | chr7:122553915-122553965 | HCF | heart: | n/a |
41 | chr7:122527437-122527487 | Caco-2 | colon: | n/a |
42 | chr7:122527522-122527572 | SK-N-MC | brain: | n/a |
43 | chr7:123181238-123181288 | HEEpiC | esophagus: | n/a |
44 | chr7:122635522-122635572 | HRCEpiC | kidney: | n/a |
45 | chr7:122527499-122527549 | GM12891 | blood: | n/a |
46 | chr7:123177030-123177080 | BJ | skin: | n/a |
47 | chr7:122488330-122488380 | MCF-7 | breast: | n/a |
48 | chr7:123174614-123174664 | HRPEpiC | eye: | n/a |
49 | chr7:122526033-122526083 | U87 | brain: | n/a |
50 | chr7:123174599-123174649 | ECC-1 | luminal epithelium: | n/a |
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr7:122382528..122384037-chr7:122398742..122400591,2 | K562 | blood: | |
2 | chr7:123095607..123098537-chr7:123100596..123102333,2 | K562 | blood: | |
3 | chr7:123155834..123158504-chr7:123189387..123191731,2 | K562 | blood: | |
4 | chr7:123052301..123054132-chr7:123057359..123059399,2 | K562 | blood: | |
5 | chr7:122443038..122444017-chr7:122710508..122711379,2 | MCF-7 | breast: | |
6 | chr7:123133532..123134939-chr7:123176499..123178295,9 | K562 | blood: | |
7 | chr7:123099909..123102702-chr7:123105277..123107418,2 | MCF-7 | breast: | |
8 | chr7:122847313..122848069-chr7:123007356..123008168,3 | MCF-7 | breast: | |
9 | chr7:123134039..123134853-chr7:123220663..123221531,3 | MCF-7 | breast: | |
10 | chr7:123181023..123183290-chr7:123333509..123335089,2 | K562 | blood: | |
11 | chr7:123180670..123183063-chr7:123193347..123195786,3 | K562 | blood: | |
12 | chr7:122794131..122794926-chr7:123007284..123008192,4 | MCF-7 | breast: | |
13 | chr7:123104465..123106673-chr7:123106878..123109913,3 | K562 | blood: | |
14 | chr7:122848558..122849600-chr7:123007360..123008213,8 | MCF-7 | breast: | |
15 | chr7:123099909..123102702-chr7:123105277..123107418,2 | MCF-7 | breast: | |
16 | chr7:123134015..123136528-chr7:123177657..123180330,2 | K562 | blood: | |
17 | chr7:122710491..122711428-chr7:122770859..122771842,5 | MCF-7 | breast: | |
18 | chr7:123139543..123143602-chr7:123145385..123149131,4 | K562 | blood: | |
19 | chr7:122624074..122625912-chr7:122627488..122629272,2 | K562 | blood: | |
20 | chr7:123038816..123040678-chr7:123042460..123044729,2 | K562 | blood: | |
21 | chr7:122469925..122472134-chr7:122472549..122474182,2 | MCF-7 | breast: | |
22 | chr7:122502243..122503856-chr7:122522076..122524661,2 | MCF-7 | breast: | |
23 | chr7:122792145..122793696-chr7:122798762..122801174,2 | K562 | blood: | |
24 | chr7:123072825..123075592-chr7:123083268..123085023,2 | K562 | blood: | |
25 | chr7:122979498..122981604-chr7:122982237..122983899,2 | K562 | blood: | |
26 | chr7:122597821..122600156-chr7:122601223..122603863,2 | K562 | blood: | |
27 | chr7:123104465..123106673-chr7:123106878..123109913,3 | K562 | blood: | |
28 | chr7:122450452..122452718-chr7:122483355..122485678,2 | MCF-7 | breast: | |
29 | chr20:52491297..52491798-chr7:122756625..122757125,2 | MCF-7 | breast: | |
30 | chr10:78308349..78309308-chr7:123009206..123010025,2 | MCF-7 | breast: | |
31 | chr7:122922875..122925684-chr7:122928901..122931640,2 | K562 | blood: | |
32 | chr7:123141211..123142909-chr7:123147647..123150257,2 | MCF-7 | breast: | |
33 | chr7:123141211..123142909-chr7:123147647..123150257,2 | MCF-7 | breast: | |
34 | chr7:123169283..123172026-chr7:123180295..123183115,2 | K562 | blood: | |
35 | chr7:122462747..122464658-chr7:122468134..122470780,2 | MCF-7 | breast: | |
36 | chr7:122948016..122949684-chr7:122953914..122955993,2 | MCF-7 | breast: | |
37 | chr7:122544561..122547077-chr7:122568138..122570128,2 | K562 | blood: | |
38 | chr7:123151600..123153416-chr7:123167160..123168729,2 | MCF-7 | breast: | |
39 | chr7:122710652..122711406-chr7:123007519..123008164,2 | MCF-7 | breast: | |
40 | chr7:122443509..122444465-chr7:122848624..122849606,2 | MCF-7 | breast: | |
41 | chr7:122980141..122981722-chr7:122984052..122986160,2 | MCF-7 | breast: | |
42 | chr7:122870999..122872692-chr7:122873105..122876048,2 | MCF-7 | breast: | |
43 | chr7:123179488..123181899-chr7:123388007..123389595,2 | K562 | blood: | |
44 | chr7:123094913..123096978-chr7:123098280..123100085,2 | K562 | blood: | |
45 | chr7:123065231..123067656-chr7:123069207..123070859,2 | K562 | blood: | |
46 | chr7:123111753..123114638-chr7:123123897..123126606,2 | K562 | blood: | |
47 | chr7:123070710..123072802-chr7:123081213..123083491,2 | MCF-7 | breast: | |
48 | chr7:123175307..123176901-chr7:123390106..123392713,2 | K562 | blood: | |
49 | chr7:123131928..123133980-chr7:123173292..123175176,2 | K562 | blood: | |
50 | chr7:123181514..123183469-chr7:123187090..123188904,2 | MCF-7 | breast: |
(count:19 , 50 per page) page:
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-ASB15-2 | chr7:123175306-123175479 | XLOC_006223 |
2 | lnc-SLC13A1-2 | chr7:122870174-122870795 | NONHSAT123040 |
3 | lnc-ASB15-2 | chr7:123175278-123175322 | XLOC_006223 |
4 | lnc-IQUB-1 | chr7:123142651-123142806 | NONHSAT123044 |
5 | lnc-SLC13A1-1 | chr7:122742515-122742585 | ENSG00000226680 |
6 | lnc-ASB15-2 | chr7:123175418-123175479 | XLOC_006223 |
7 | lnc-IQUB-1 | chr7:123174546-123174632 | NONHSAT123044 |
8 | lnc-SLC13A1-1 | chr7:122743580-122743643 | ENSG00000226680 |
9 | lnc-IQUB-1 | chr7:123142998-123143170 | NONHSAT123044 |
10 | lnc-ASB15-4 | chr7:123176505-123178268 | ucscGeneNc_uc003vla_2 |
11 | lnc-ASB15-2 | chr7:123175659-123175873 | XLOC_006223 |
12 | lnc-ASB15-2 | chr7:123175659-123175887 | XLOC_006223 |
13 | lnc-SLC13A1-1 | chr7:122743580-122743643 | XLOC_006586 |
14 | lnc-SLC13A1-1 | chr7:122709303-122709567 | ENSG00000226680 |
15 | lnc-IQUB-1 | chr7:123143256-123143364 | NONHSAT123044 |
16 | lnc-SLC13A1-1 | chr7:122710065-122710169 | XLOC_006586 |
17 | lnc-SLC13A1-1 | chr7:122709303-122709567 | XLOC_006586 |
18 | lnc-SLC13A1-1 | chr7:122711179-122711253 | XLOC_006586 |
19 | lnc-SLC13A1-1 | chr7:122710065-122710169 | ENSG00000226680 |
No data |
No data |
Variant related genes | Relation type |
---|---|
LYPLA1P1 | TF binding region |
NDUFA5 | TF binding region |
ENSG00000227573 | TF binding region |
ENSG00000226680 | TF binding region |
TAS2R16 | TF binding region |
IQUB | TF binding region |
SLC13A1 | TF binding region |
ENSG00000232524 | TF binding region |
RNU6-296P | TF binding region |
CADPS2 | TF binding region |
LYPLA1P1 | CpG island |
NDUFA5 | CpG island |
ENSG00000227573 | CpG island |
ENSG00000226680 | CpG island |
TAS2R16 | CpG island |
IQUB | CpG island |
SLC13A1 | CpG island |
ENSG00000232524 | CpG island |
RNU6-296P | CpG island |
CADPS2 | CpG island |
ENSG00000133805 | chromatin interactions |
ENSG00000124357 | chromatin interactions |
ENSG00000227573 | chromatin interactions |
ENSG00000272686 | chromatin interactions |
ENSG00000207338 | chromatin interactions |
ENSG00000138442 | chromatin interactions |
ENSG00000081803 | chromatin interactions |
ENSG00000164675 | chromatin interactions |
ENSG00000236383 | chromatin interactions |
ENSG00000223595 | chromatin interactions |
ENSG00000164626 | chromatin interactions |
ENSG00000230442 | chromatin interactions |
ENSG00000138380 | chromatin interactions |
ENSG00000232524 | chromatin interactions |
ENSG00000128609 | chromatin interactions |
ENSG00000106299 | chromatin interactions |
ENSG00000081800 | chromatin interactions |
USP24 | miRNA target sites |
USF2 | miRNA target sites |
USP15 | miRNA target sites |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs13232111 | chr7:122386967-122386968 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
2 | rs530720690 | chr7:122386983-122386984 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs191108094 | chr7:122387020-122387021 | Enhancers Weak transcription Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
4 | rs141729658 | chr7:122387035-122387036 | Enhancers Weak transcription Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
5 | rs529913215 | chr7:122387132-122387133 | Enhancers Weak transcription Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
6 | rs548011549 | chr7:122387204-122387205 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs548975113 | chr7:122387208-122387209 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs565690757 | chr7:122387227-122387228 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs534840026 | chr7:122387245-122387246 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs181141640 | chr7:122387261-122387262 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs571783640 | chr7:122387337-122387338 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs185947009 | chr7:122387426-122387427 | Weak transcription Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
13 | rs78111510 | chr7:122387444-122387445 | Weak transcription Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
14 | rs190314394 | chr7:122387445-122387446 | Weak transcription Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
15 | rs183274548 | chr7:122387467-122387468 | Weak transcription Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
16 | rs567898756 | chr7:122387552-122387553 | Weak transcription Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
17 | rs564127888 | chr7:122387562-122387563 | Weak transcription Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
18 | rs367911556 | chr7:122387617-122387618 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs572872913 | chr7:122387652-122387653 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs545165198 | chr7:122387714-122387715 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs564956642 | chr7:122387799-122387800 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs533874520 | chr7:122387822-122387823 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs371673169 | chr7:122387826-122387827 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs62483578 | chr7:122387860-122387861 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs78304097 | chr7:122387894-122387895 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs66649699 | chr7:122387895-122387896 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs72600543 | chr7:122387897-122387898 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs398006092 | chr7:122387898-122387899 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs560880582 | chr7:122387911-122387912 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs530005210 | chr7:122387925-122387926 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs561152794 | chr7:122387958-122387959 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs375021611 | chr7:122387966-122387967 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs544277703 | chr7:122387974-122387975 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs61292857 | chr7:122387983-122387984 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
35 | rs144316782 | chr7:122388001-122388002 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs187749077 | chr7:122388050-122388051 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs191142099 | chr7:122388073-122388074 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
38 | rs146535275 | chr7:122388076-122388077 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
39 | rs78707934 | chr7:122388077-122388078 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
40 | rs576082125 | chr7:122388082-122388083 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
41 | rs541927866 | chr7:122388125-122388126 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
42 | rs572825539 | chr7:122388146-122388147 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
43 | rs562482105 | chr7:122388150-122388151 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
44 | rs112563119 | chr7:122388225-122388226 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
45 | rs567703823 | chr7:122388233-122388234 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
46 | rs10269727 | chr7:122388255-122388256 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
47 | rs539969251 | chr7:122388406-122388407 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
48 | rs182517555 | chr7:122388438-122388439 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
49 | rs149784446 | chr7:122388455-122388456 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
50 | rs538614600 | chr7:122388489-122388490 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Esophageal squamous carcinoma | 21637470 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Thyroid cancer | 19087340 | CNVD |
Seminomas | 18059402 | CNVD |
Testicular cancer | 18059402 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Autism | 19415332 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Pleomorphic xanthoastrocytoma | 20730472 | CNVD |
T-cell lymphomas | 19863542 | CNVD |
Malaria | 21533027 | CNVD |
Melanoma | 18172304 | CNVD |
Renal cell carcinoma | 19461508 | CNVD |
head and neck squamous cell carcinoma | 19289630 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Autism | 22495311 | CNVD |
Wilms tumour | 21544195 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Squamous cell cancer | 21044232 | CNVD |
Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
Astrocytoma | 17387387 | CNVD |
Glioblastoma multiforme | 17387387 | CNVD |
Low-grade fibromyxoid sarcoma | 0 | CNVD |
Oligodendroglial tumors | 17285580 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Burkitt''s lymphoma | 18698080 | CNVD |
Breast cancer | 21264507 | CNVD |
Shwachman-Diamond syndrome | 22934832 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Cutaneous malignant melanoma | 17690212 | CNVD |
Leukemia | 17361228 | CNVD |
Breast cancer | 16461572 | CNVD |
Peripheral t-cell lymphoma | 19118030 | CNVD |
Malignant melanoma | 17690212 | CNVD |
Renal cell carcinoma | 18592004 | CNVD |
Acute promyelocytic leukemia | 19109227 | CNVD |
Multiple myeloma | 17550852 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Neurodevelopmental disorder | 22521361 | CNVD |
abortions and stillbirths | 19751515 | CNVD |
Acute lymphoblastic leukemia | 21980252 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Lung cancer | 18438408 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Non-syndromic sensorineural hearing loss | 21987784 | CNVD |
Burkitt''s lymphoma | 19759907 | CNVD |
Myelodysplastic syndrome | 21251322 | CNVD |
Chronic myeloid leukemia | 21384125 | CNVD |
Breast cancer | 21858162 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
Prostate cancer | 16573809 | CNVD |
Medulloblastoma | 16783165 | CNVD |
Biliary cancer | 19435499 | CNVD |
Non-small cell lung cancer | 21829676 | CNVD |
Ovarian neoplasms | 16753589 | CNVD |
Prostate cancer | 23792589 | CNVD |
Adenocarcinoma | 21044232 | CNVD |
Splenic marginal zone lymphoma | 21957467 | CNVD |
Non-small cell lung cancer | 19889201 | CNVD |
Acute myeloid leukemia | 18000384 | CNVD |
Esophageal adenocarcinoma | 18820669 | CNVD |
Metastatic melanoma | 18483359 | CNVD |
Autism | 18414403 | CNVD |
Autism | 19401682 | CNVD |
Autism | 19546859 | CNVD |
Schizophrenia | 19546859 | CNVD |
Tourette syndrome | 19546859 | CNVD |
Melanoma | 19188590 | CNVD |
Glioblastoma multiforme | 21922591 | CNVD |
Hepatocellular carcinoma | 16785998 | CNVD |
Glioblastoma multiforme | 18628472 | CNVD |
Basal cell lymphoma | 21115979 | CNVD |
Breast cancer | 21509527 | CNVD |
low-grade B-cell lymphoma tumor | 18367492 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Splenic marginal zone lymphoma | 18492102 | CNVD |
Barrett''s adenocarcinoma | 18663352 | CNVD |
Acute monocytic leukemia | 16498392 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Acute lymphoblastic leukemia | 21339820 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Chordoma | 21215367 | CNVD |
Cancer | 20164919 | CNVD |
Breast cancer | 22522925 | CNVD |
Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
Autism | 21865298 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr7:122378000-122393400 | Weak transcription | Fetal Lung | lung |
2 | chr7:122378200-122391600 | Weak transcription | iPS DF 6.9 Cell Line | embryonic stem cell |
3 | chr7:122380000-122387000 | Weak transcription | HUES6 Cell Line | embryonic stem cell |
4 | chr7:122382600-122387600 | Enhancers | HUES48 Cell Line | embryonic stem cell |
5 | chr7:122384400-122388400 | Weak transcription | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
6 | chr7:122384400-122389800 | Weak transcription | Gastric | stomach |
7 | chr7:122384400-122391600 | Weak transcription | Pancreas | Pancrea |
8 | chr7:122385200-122391200 | Enhancers | HUES64 Cell Line | embryonic stem cell |
9 | chr7:122386000-122389600 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
10 | chr7:122386200-122387000 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
11 | chr7:122386200-122387400 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
12 | chr7:122386400-122387400 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
13 | chr7:122386400-122388600 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
14 | chr7:122386600-122387400 | Enhancers | H1 Cell Line | embryonic stem cell |
15 | chr7:122386800-122387200 | Weak transcription | H9 Cell Line | embryonic stem cell |
16 | chr7:122386800-122394600 | Weak transcription | Ovary | ovary |
17 | chr7:122387000-122387200 | Flanking Active TSS | iPS-20b Cell Line | embryonic stem cell |
18 | chr7:122387000-122387400 | Enhancers | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
19 | chr7:122387000-122387400 | Enhancers | HUES6 Cell Line | embryonic stem cell |
20 | chr7:122387200-122387400 | Enhancers | H9 Cell Line | embryonic stem cell |
21 | chr7:122387200-122387400 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
22 | chr7:122387400-122387600 | Flanking Active TSS | iPS-20b Cell Line | embryonic stem cell |
23 | chr7:122387400-122389400 | Weak transcription | iPS-18 Cell Line | embryonic stem cell |
24 | chr7:122387400-122391600 | Weak transcription | H1 Cell Line | embryonic stem cell |
25 | chr7:122387400-122391600 | Weak transcription | HUES6 Cell Line | embryonic stem cell |
26 | chr7:122387400-122391800 | Weak transcription | H9 Cell Line | embryonic stem cell |
27 | chr7:122387600-122387800 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
28 | chr7:122387600-122388800 | Weak transcription | HUES48 Cell Line | embryonic stem cell |
29 | chr7:122387800-122389200 | Weak transcription | iPS-20b Cell Line | embryonic stem cell |
30 | chr7:122388000-122388600 | Enhancers | Fetal Brain Male | brain |
31 | chr7:122388400-122388800 | Enhancers | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
32 | chr7:122388600-122391600 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
33 | chr7:122388800-122389800 | Enhancers | HUES48 Cell Line | embryonic stem cell |
34 | chr7:122389200-122389400 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
35 | chr7:122389200-122390800 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
36 | chr7:122389400-122389600 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
37 | chr7:122389400-122389800 | Weak transcription | iPS-20b Cell Line | embryonic stem cell |
38 | chr7:122389600-122390000 | Weak transcription | iPS-18 Cell Line | embryonic stem cell |
39 | chr7:122389600-122390600 | Weak transcription | iPS-15b Cell Line | embryonic stem cell |
40 | chr7:122389800-122390200 | Weak transcription | HUES48 Cell Line | embryonic stem cell |
41 | chr7:122389800-122390800 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
42 | chr7:122390000-122390800 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
43 | chr7:122390000-122392000 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
44 | chr7:122390200-122390800 | Enhancers | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
45 | chr7:122390200-122392800 | Enhancers | HUES48 Cell Line | embryonic stem cell |
46 | chr7:122390600-122390800 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
47 | chr7:122390800-122391200 | Weak transcription | iPS-15b Cell Line | embryonic stem cell |
48 | chr7:122390800-122391400 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
49 | chr7:122390800-122398200 | Weak transcription | iPS-20b Cell Line | embryonic stem cell |
50 | chr7:122391200-122391600 | Weak transcription | HUES64 Cell Line | embryonic stem cell |