Variant report
Variant | nsv1024375 |
---|---|
Chromosome Location | chr6:57208043-58002217 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:4626)
- CpG islands (count:1528)
- Chromatin interactive region (count:90)
- LncRNA region (count:15)
- Mature miRNA region (count: 1)
- miRNA target sites (count:0)
No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | ARID3A | chr6:57236576-57237274 | HepG2 | liver: | n/a | n/a |
2 | ARID3A | chr6:57445284-57445884 | K562 | blood: | n/a | n/a |
3 | ARID3A | chr6:57445471-57445872 | HepG2 | liver: | n/a | n/a |
4 | ARID3A | chr6:57364923-57365929 | HepG2 | liver: | n/a | n/a |
5 | ARID3A | chr6:57392130-57392164 | HepG2 | liver: | n/a | n/a |
6 | ATF1 | chr6:57433964-57434331 | K562 | blood: | n/a | n/a |
7 | ATF1 | chr6:57432706-57432903 | K562 | blood: | n/a | n/a |
8 | ATF1 | chr6:57618389-57618391 | K562 | blood: | n/a | n/a |
9 | ATF1 | chr6:57996881-57996935 | K562 | blood: | n/a | n/a |
10 | ATF1 | chr6:57386257-57386379 | K562 | blood: | n/a | n/a |
11 | ATF1 | chr6:57329848-57330048 | K562 | blood: | n/a | n/a |
12 | ATF1 | chr6:57388328-57388901 | K562 | blood: | n/a | n/a |
13 | ATF1 | chr6:57483250-57483369 | K562 | blood: | n/a | n/a |
14 | ATF1 | chr6:57422764-57422956 | K562 | blood: | n/a | n/a |
15 | ATF1 | chr6:57483779-57483974 | K562 | blood: | n/a | n/a |
16 | ATF1 | chr6:57529957-57530116 | K562 | blood: | n/a | n/a |
17 | ATF1 | chr6:57573821-57574021 | K562 | blood: | n/a | n/a |
18 | ATF1 | chr6:57487670-57487865 | K562 | blood: | n/a | n/a |
19 | ATF1 | chr6:57296724-57296768 | K562 | blood: | n/a | n/a |
20 | ATF1 | chr6:57414346-57414465 | K562 | blood: | n/a | n/a |
21 | ATF2 | chr6:57288167-57288786 | H1-hESC | embryonic stem cell: | n/a | n/a |
22 | ATF2 | chr6:57288321-57288802 | H1-hESC | embryonic stem cell: | n/a | n/a |
23 | BACH1 | chr6:57350106-57350125 | K562 | blood: | n/a | n/a |
24 | BACH1 | chr6:57305657-57305828 | H1-hESC | embryonic stem cell: | n/a | n/a |
25 | BACH1 | chr6:57419536-57419915 | H1-hESC | embryonic stem cell: | n/a | n/a |
26 | BACH1 | chr6:57488136-57488168 | H1-hESC | embryonic stem cell: | n/a | n/a |
27 | BACH1 | chr6:57541125-57541357 | H1-hESC | embryonic stem cell: | n/a | n/a |
28 | BACH1 | chr6:57408878-57409078 | H1-hESC | embryonic stem cell: | n/a | n/a |
29 | BACH1 | chr6:57439570-57440015 | H1-hESC | embryonic stem cell: | n/a | n/a |
30 | BACH1 | chr6:57501831-57501836 | K562 | blood: | n/a | n/a |
31 | BACH1 | chr6:57228847-57228853 | K562 | blood: | n/a | n/a |
32 | BACH1 | chr6:57388299-57388865 | K562 | blood: | n/a | n/a |
33 | BACH1 | chr6:57334050-57334159 | H1-hESC | embryonic stem cell: | n/a | n/a |
34 | BACH1 | chr6:57365814-57365865 | K562 | blood: | n/a | n/a |
35 | BACH1 | chr6:57486231-57486242 | H1-hESC | embryonic stem cell: | n/a | n/a |
36 | BACH1 | chr6:57364094-57364109 | H1-hESC | embryonic stem cell: | n/a | n/a |
37 | BACH1 | chr6:57545381-57545540 | H1-hESC | embryonic stem cell: | n/a | n/a |
38 | BACH1 | chr6:57526352-57526945 | H1-hESC | embryonic stem cell: | n/a | n/a |
39 | BACH1 | chr6:57288493-57288790 | H1-hESC | embryonic stem cell: | n/a | n/a |
40 | BACH1 | chr6:57269047-57269216 | H1-hESC | embryonic stem cell: | n/a | n/a |
41 | BACH1 | chr6:57337567-57337643 | K562 | blood: | n/a | n/a |
42 | BACH1 | chr6:57363671-57363854 | K562 | blood: | n/a | n/a |
43 | BATF | chr6:57705851-57706122 | GM12878 | blood: | n/a | chr6:57706041-57706049 |
44 | BATF | chr6:57254076-57254287 | GM12878 | blood: | n/a | chr6:57254189-57254200 |
45 | BATF | chr6:57215182-57215534 | GM12878 | blood: | n/a | n/a |
46 | BATF | chr6:57705853-57706117 | GM12878 | blood: | n/a | chr6:57706041-57706049 |
47 | BATF | chr6:57213914-57214212 | GM12878 | blood: | n/a | n/a |
48 | BCL11A | chr6:57705880-57706094 | GM12878 | blood: | n/a | n/a |
49 | BCL11A | chr6:57284786-57285093 | GM12878 | blood: | n/a | n/a |
50 | BCL11A | chr6:57705843-57706108 | GM12878 | blood: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr6:57447898-57447948 | GM19239 | blood: | n/a |
2 | chr6:57614321-57614371 | GM06990 | blood: | n/a |
3 | chr6:57972223-57972273 | HL-60 | blood: | n/a |
4 | chr6:57447898-57447948 | GM19239 | blood: | n/a |
5 | chr6:57614321-57614371 | GM06990 | blood: | n/a |
6 | chr6:57972223-57972273 | HL-60 | blood: | n/a |
7 | chr6:57385844-57385894 | U87 | brain: | n/a |
8 | chr6:57614321-57614371 | GM12892 | blood: | n/a |
9 | chr6:57972680-57972730 | GM12878 | blood: | n/a |
10 | chr6:57972223-57972273 | BE2_C | brain: | n/a |
11 | chr6:57288411-57288461 | MCF-7 | breast: | n/a |
12 | chr6:57350270-57350320 | HIPEpiC | eye: | n/a |
13 | chr6:57391815-57391865 | AG04450 | lung: | fetal |
14 | chr6:57384347-57384397 | GM12878 | blood: | n/a |
15 | chr6:57245939-57245989 | ECC-1 | luminal epithelium: | n/a |
16 | chr6:57350270-57350320 | NH-A | brain: | n/a |
17 | chr6:57245939-57245989 | Hepatocyte | liver: | n/a |
18 | chr6:58001971-58002021 | HPAEpiC | pulmonary alveolar: | n/a |
19 | chr6:57218853-57218903 | SKMC | muscle: | n/a |
20 | chr6:57972223-57972273 | HIPEpiC | eye: | n/a |
21 | chr6:57614321-57614371 | HL-60 | blood: | n/a |
22 | chr6:57970666-57970716 | NB4 | blood: | n/a |
23 | chr6:57970666-57970716 | HEK293 | kidney: | embryo |
24 | chr6:57391815-57391865 | AG10803 | skin: | n/a |
25 | chr6:57912662-57912712 | GM06990 | blood: | n/a |
26 | chr6:57385844-57385894 | HPAEpiC | pulmonary alveolar: | n/a |
27 | chr6:57218853-57218903 | HRE | kidney: | n/a |
28 | chr6:57306409-57306459 | H1-hESC | embryonic stem cell: | embryo |
29 | chr6:57218853-57218903 | PFSK-1 | brain: | n/a |
30 | chr6:57306409-57306459 | BJ | skin: | n/a |
31 | chr6:57384347-57384397 | HCF | heart: | n/a |
32 | chr6:57970592-57970642 | Caco-2 | colon: | n/a |
33 | chr6:57972680-57972730 | HIPEpiC | eye: | n/a |
34 | chr6:57335405-57335455 | SK-N-SH_RA | brain: | n/a |
35 | chr6:57359134-57359184 | IMR90 | lung: | fetal |
36 | chr6:57391815-57391865 | SAEC | small airway: | n/a |
37 | chr6:57235407-57235457 | ProgFib | skin: | n/a |
38 | chr6:57359134-57359184 | MCF-7 | breast: | n/a |
39 | chr6:57218853-57218903 | HL-60 | blood: | n/a |
40 | chr6:57972349-57972399 | HCF | heart: | n/a |
41 | chr6:57335405-57335455 | GM06990 | blood: | n/a |
42 | chr6:57288411-57288461 | T-47D | breast: | n/a |
43 | chr6:57339858-57339908 | AG04450 | lung: | fetal |
44 | chr6:57306409-57306459 | U87 | brain: | n/a |
45 | chr6:57335405-57335455 | CMK | blood: | n/a |
46 | chr6:57614321-57614371 | IMR90 | lung: | fetal |
47 | chr6:57972223-57972273 | GM12892 | blood: | n/a |
48 | chr6:57235407-57235457 | T-47D | breast: | n/a |
49 | chr6:57339858-57339908 | PFSK-1 | brain: | n/a |
50 | chr6:57253598-57253648 | HEEpiC | esophagus: | n/a |
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr6:57386101..57388103-chr6:57389445..57391300,2 | K562 | blood: | |
2 | chr6:57472415..57474751-chr6:57478817..57480386,2 | K562 | blood: | |
3 | chr6:57445250..57446013-chr6:57537509..57538705,3 | MCF-7 | breast: | |
4 | chr6:57297690..57300107-chr6:57303137..57305465,2 | MCF-7 | breast: | |
5 | chr6:57225893..57228835-chr6:57230897..57233508,2 | K562 | blood: | |
6 | chr6:57229138..57231697-chr6:57233407..57236328,3 | K562 | blood: | |
7 | chr6:57302195..57303819-chr6:57305158..57307849,2 | MCF-7 | breast: | |
8 | chr6:57437551..57439992-chr6:57443844..57446833,2 | K562 | blood: | |
9 | chr6:57370604..57372865-chr6:57373848..57376238,2 | K562 | blood: | |
10 | chr6:57214841..57217586-chr6:57224303..57226247,2 | K562 | blood: | |
11 | chr6:57445326..57445995-chr6:57539539..57540106,2 | MCF-7 | breast: | |
12 | chr6:57217129..57218039-chr6:57539079..57539990,3 | MCF-7 | breast: | |
13 | chr6:57209967..57212539-chr6:57213014..57215856,3 | MCF-7 | breast: | |
14 | chr6:57244329..57246093-chr6:57248866..57250667,2 | K562 | blood: | |
15 | chr6:57361390..57363831-chr6:57368584..57370615,2 | MCF-7 | breast: | |
16 | chr18:1906473..1906973-chr6:57539499..57540003,2 | MCF-7 | breast: | |
17 | chr6:57344628..57347602-chr6:57348060..57349813,2 | K562 | blood: | |
18 | chr6:57302195..57303819-chr6:57305158..57307849,2 | MCF-7 | breast: | |
19 | chr6:57489928..57492575-chr6:57494690..57497411,2 | K562 | blood: | |
20 | chr6:57214841..57217586-chr6:57224303..57226247,2 | K562 | blood: | |
21 | chr6:57421846..57424167-chr6:57427801..57430462,3 | MCF-7 | breast: | |
22 | chr6:57337415..57340116-chr6:57349926..57352459,2 | K562 | blood: | |
23 | chr6:57230388..57232358-chr6:57233911..57236761,3 | MCF-7 | breast: | |
24 | chr6:57371365..57373576-chr6:57373848..57375922,2 | K562 | blood: | |
25 | chr6:57429189..57431102-chr6:57440501..57442862,2 | MCF-7 | breast: | |
26 | chr6:57287892..57290689-chr6:57302857..57304913,2 | K562 | blood: | |
27 | chr6:57413449..57416181-chr6:57416496..57418603,2 | K562 | blood: | |
28 | chr6:57346719..57348670-chr6:57349128..57351994,2 | MCF-7 | breast: | |
29 | chr6:57766644..57767228-chr6:62859661..62860581,2 | MCF-7 | breast: | |
30 | chr6:57445356..57445958-chr6:57689666..57690275,2 | MCF-7 | breast: | |
31 | chr6:57217129..57218039-chr6:57539079..57539990,3 | MCF-7 | breast: | |
32 | chr6:57394320..57396660-chr6:58286293..58287831,2 | MCF-7 | breast: | |
33 | chr6:57225893..57228835-chr6:57230897..57233508,2 | K562 | blood: | |
34 | chr6:57489928..57492575-chr6:57494690..57497411,2 | K562 | blood: | |
35 | chr6:57489928..57493477-chr6:57494690..57497411,3 | K562 | blood: | |
36 | chr6:57445250..57446013-chr6:57537509..57538705,3 | MCF-7 | breast: | |
37 | chr6:57472415..57474751-chr6:57478817..57480386,2 | K562 | blood: | |
38 | chr6:57337415..57340116-chr6:57349926..57352459,2 | K562 | blood: | |
39 | chr6:57445356..57445958-chr6:57689666..57690275,2 | MCF-7 | breast: | |
40 | chr6:57393591..57395977-chr6:57407320..57409957,2 | MCF-7 | breast: | |
41 | chr6:57405693..57407850-chr6:57408076..57409919,2 | K562 | blood: | |
42 | chr6:57413449..57416181-chr6:57416496..57418603,2 | K562 | blood: | |
43 | chr6:57371365..57373576-chr6:57373848..57375922,2 | K562 | blood: | |
44 | chr6:57297690..57300107-chr6:57303137..57305465,2 | MCF-7 | breast: | |
45 | chr6:57187827..57190385-chr6:57223942..57226286,2 | MCF-7 | breast: | |
46 | chr6:57209967..57212539-chr6:57213014..57215856,3 | MCF-7 | breast: | |
47 | chr6:57368098..57370585-chr6:57379961..57384432,3 | K562 | blood: | |
48 | chr6:57358740..57361214-chr6:57362213..57364300,2 | K562 | blood: | |
49 | chr6:57437551..57439992-chr6:57443844..57446833,2 | K562 | blood: | |
50 | chr6:57229138..57231697-chr6:57233407..57236328,3 | K562 | blood: |
(count:15 , 50 per page) page:
1
No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-RAB23-14 | chr6:57686969-57687949 | NONHSAT113299 |
2 | lnc-RAB23-13 | chr6:57674277-57674350 | NONHSAT113298 |
3 | lnc-RAB23-15 | chr6:57793932-57794280 | NONHSAT113301 |
4 | lnc-BAG2-3 | chr6:57690895-57690956 | XLOC_005331 |
5 | lnc-RAB23-12 | chr6:57543887-57544127 | NONHSAT113297 |
6 | lnc-RAB23-9 | chr6:57235203-57235424 | ucscGeneNc_uc003pdu_1 |
7 | lnc-BAG2-11 | chr6:57798854-57798915 | NONHSAT113302 |
8 | lnc-BAG2-11 | chr6:57799352-57799604 | NONHSAT113302 |
9 | lnc-RAB23-9 | chr6:57233281-57234474 | ucscGeneNc_uc003pdu_1 |
10 | lnc-BAG2-1 | chr6:57362331-57362565 | ENSG00000266579.1 |
11 | lnc-RAB23-13 | chr6:57671339-57671489 | NONHSAT113298 |
12 | lnc-RAB23-9 | chr6:57236060-57236103 | ucscGeneNc_uc003pdu_1 |
13 | lnc-BAG2-3 | chr6:57691393-57691645 | XLOC_005331 |
14 | lnc-RAB23-12 | chr6:57551484-57551584 | NONHSAT113297 |
15 | lnc-BAG2-1 | chr6:57358736-57358845 | ENSG00000266579.1 |
miRNA name | Chromosome Location | mirBase accession |
---|---|---|
hsa-miR-548u | chr6:57254978-57255000 | MIMAT0015013 |
No data |
Variant related genes | Relation type |
---|---|
MIR548U | TF binding region |
PRIM2 | TF binding region |
ENSG00000262828 | TF binding region |
ENSG00000266579 | TF binding region |
ENSG00000231273 | TF binding region |
GAPDHP41 | TF binding region |
RBBP4P3 | TF binding region |
MIR548U | CpG island |
PRIM2 | CpG island |
ENSG00000262828 | CpG island |
ENSG00000266579 | CpG island |
ENSG00000231273 | CpG island |
GAPDHP41 | CpG island |
RBBP4P3 | CpG island |
ENSG00000263745 | chromatin interactions |
ENSG00000146143 | chromatin interactions |
ENSG00000266579 | chromatin interactions |
ENSG00000215190 | chromatin interactions |
NR3C1 | miRNA target sites |
PNN | miRNA target sites |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs531719867 | chr6:57208110-57208111 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs744659 | chr6:57208153-57208154 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs550100991 | chr6:57208159-57208160 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs12662732 | chr6:57208168-57208169 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs555145855 | chr6:57208183-57208184 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs60682850 | chr6:57208212-57208213 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs532577735 | chr6:57208251-57208252 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs201701915 | chr6:57208284-57208285 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs66486048 | chr6:57208285-57208286 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs13218946 | chr6:57208306-57208307 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs9464441 | chr6:57208351-57208352 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs78381429 | chr6:57208365-57208366 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs547665330 | chr6:57208366-57208367 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs566057545 | chr6:57208368-57208369 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs536415524 | chr6:57208370-57208371 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs77599312 | chr6:57208371-57208372 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs554754232 | chr6:57208378-57208379 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs13218978 | chr6:57208387-57208388 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs3800015 | chr6:57208396-57208397 | Weak transcription Enhancers Strong transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
20 | rs537542814 | chr6:57208440-57208441 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs556265704 | chr6:57208470-57208471 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs577551877 | chr6:57208472-57208473 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs9464442 | chr6:57208503-57208504 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs9382702 | chr6:57208509-57208510 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs9382703 | chr6:57208523-57208524 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs374564663 | chr6:57208555-57208556 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs545049972 | chr6:57208569-57208570 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs554080746 | chr6:57208582-57208583 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs572385234 | chr6:57208601-57208602 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs542802543 | chr6:57208612-57208613 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs561064983 | chr6:57208618-57208619 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs111762135 | chr6:57208630-57208631 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs374641241 | chr6:57208638-57208639 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs9396275 | chr6:57208648-57208649 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs116727640 | chr6:57208651-57208652 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs543539464 | chr6:57208693-57208694 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs9382704 | chr6:57208705-57208706 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
38 | rs190095029 | chr6:57208721-57208722 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
39 | rs9475857 | chr6:57208727-57208728 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
40 | rs532376323 | chr6:57208765-57208766 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
41 | rs9382705 | chr6:57208793-57208794 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
42 | rs547405741 | chr6:57208799-57208800 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
43 | rs9367720 | chr6:57208805-57208806 | Weak transcription ZNF genes & repeats Enhancers | n/a | n/a | Overlapped CNVs | n/a |
44 | rs528601502 | chr6:57208821-57208822 | Weak transcription ZNF genes & repeats Enhancers | n/a | n/a | Overlapped CNVs | n/a |
45 | rs565993946 | chr6:57208827-57208828 | Weak transcription ZNF genes & repeats Enhancers | n/a | n/a | Overlapped CNVs | n/a |
46 | rs530333052 | chr6:57208828-57208829 | Weak transcription ZNF genes & repeats Enhancers | n/a | n/a | Overlapped CNVs | n/a |
47 | rs548518263 | chr6:57208882-57208883 | Weak transcription ZNF genes & repeats Enhancers | n/a | n/a | Overlapped CNVs | n/a |
48 | rs570141387 | chr6:57208919-57208920 | Weak transcription ZNF genes & repeats Enhancers | n/a | n/a | Overlapped CNVs | n/a |
49 | rs113683654 | chr6:57208923-57208924 | Weak transcription ZNF genes & repeats Enhancers | n/a | n/a | Overlapped CNVs | n/a |
50 | rs555963729 | chr6:57208940-57208941 | Weak transcription ZNF genes & repeats Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Leukemia | 21518781 | CNVD |
Cancer | 21637783 | CNVD |
Facial dysmorphism | 22105932 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
Diffuse large b-cell lymphoma | 18287131 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Breast cancer | 21264507 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Cancer | 16751803 | CNVD |
Bladder cancer | 19088036 | CNVD |
Wilms tumour | 21544195 | CNVD |
Uveal melanoma | 21693616 | CNVD |
Biliary cancer | 19435499 | CNVD |
Malaria | 21533027 | CNVD |
Retinoblastoma | 19183342 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Breast cancer | 21858162 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Autism | 21448237 | CNVD |
Breast cancer | 20668451 | CNVD |
Cancer | 20668451 | CNVD |
Lung cancer | 20668451 | CNVD |
Ovarian cancer | 20668451 | CNVD |
Pancreas cancer | 20668451 | CNVD |
Prostate cancer | 20668451 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Autism | 22495311 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Gastric cancer | 17908304 | CNVD |
Neuroblastoma | 16790693 | CNVD |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
Biliary cancer | 20360734 | CNVD |
Breast cancer | 20360734 | CNVD |
Coronary artery disease | 20360734 | CNVD |
Crohn''s disease | 20360734 | CNVD |
Hypertension | 20360734 | CNVD |
Rheumatoid arthritis | 20360734 | CNVD |
Type 1 diabetes | 20360734 | CNVD |
Type 2 diabetes | 20360734 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Lung cancer | 18438408 | CNVD |
Neuroblastoma | 18923191 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Breast cancer | 17603634 | CNVD |
Systemic lupus erythematosus | 17503323 | CNVD |
Gastrointestinal stromal cancer | 20818650 | CNVD |
Breast cancer | 16608533 | CNVD |
Melanoma | 18172304 | CNVD |
Esophageal squamous carcinoma | 18350619 | CNVD |
Chronic lymphocytic leukemia | 20421269 | CNVD |
Glioblastoma multiforme | 22286061 | CNVD |
Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Breast cancer | 21364760 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Acute lymphoblastic leukemia | 18458336 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Breast cancer | 21509527 | CNVD |
Acute lymphoblastic leukemia | 17443227 | CNVD |
T-cell lymphomas | 19863542 | CNVD |
Oral squamous cell carcinoma | 17134496 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
Breast cancer | 22522925 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Cancer | 20164919 | CNVD |
Intellectual disability | 21811512 | CNVD |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
Glioma | 20126413 | CNVD |
Ovarian cancer | 21720365 | CNVD |
Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
Schizophrenia | 20967226 | CNVD |
Non-syndromic sensorineural hearing loss | 19587683 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr6:57194600-57214800 | Weak transcription | Small Intestine | intestine |
2 | chr6:57194600-57215200 | Weak transcription | Ovary | ovary |
3 | chr6:57194600-57226200 | Weak transcription | Foreskin Fibroblast Primary Cells skin02 | Skin |
4 | chr6:57194600-57244800 | Weak transcription | Spleen | Spleen |
5 | chr6:57194800-57211600 | Weak transcription | Primary mononuclear cells fromperipheralblood | Blood |
6 | chr6:57195600-57212600 | Weak transcription | Primary T helper naive cells fromperipheralblood | blood |
7 | chr6:57195600-57238400 | Weak transcription | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
8 | chr6:57198200-57212400 | Weak transcription | Primary T helper cells fromperipheralblood | blood |
9 | chr6:57199000-57213800 | Weak transcription | K562 | blood |
10 | chr6:57199600-57211800 | Weak transcription | IMR90 fetal lung fibroblasts Cell Line | lung |
11 | chr6:57199600-57213200 | Weak transcription | HSMM | muscle |
12 | chr6:57199600-57213400 | Weak transcription | Fetal Thymus | thymus |
13 | chr6:57199600-57214600 | Weak transcription | Muscle Satellite Cultured Cells | -- |
14 | chr6:57199600-57214800 | Weak transcription | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
15 | chr6:57199600-57215200 | Weak transcription | Osteobl | bone |
16 | chr6:57199600-57221000 | Weak transcription | Hela-S3 | cervix |
17 | chr6:57199600-57229000 | Weak transcription | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
18 | chr6:57199800-57208200 | Weak transcription | Rectal Smooth Muscle | rectum |
19 | chr6:57199800-57210600 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
20 | chr6:57199800-57210600 | Weak transcription | HUES64 Cell Line | embryonic stem cell |
21 | chr6:57199800-57210800 | Weak transcription | HUES6 Cell Line | embryonic stem cell |
22 | chr6:57199800-57210800 | Weak transcription | iPS DF 6.9 Cell Line | embryonic stem cell |
23 | chr6:57199800-57210800 | Weak transcription | Primary B cells from cord blood | blood |
24 | chr6:57199800-57210800 | Weak transcription | Dnd41 | blood |
25 | chr6:57199800-57211600 | Weak transcription | NHLF | lung |
26 | chr6:57199800-57213200 | Weak transcription | Primary B cells from peripheral blood | blood |
27 | chr6:57199800-57213400 | Weak transcription | Primary hematopoietic stem cells | blood |
28 | chr6:57199800-57213800 | Weak transcription | iPS-18 Cell Line | embryonic stem cell |
29 | chr6:57199800-57214600 | Weak transcription | Foreskin Keratinocyte Primary Cells skin02 | Skin |
30 | chr6:57199800-57251000 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
31 | chr6:57200000-57218000 | Weak transcription | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
32 | chr6:57200600-57215000 | Weak transcription | hESC Derived CD56+ Mesoderm Cultured Cells | ES cell derived |
33 | chr6:57206200-57208600 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
34 | chr6:57206400-57209200 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
35 | chr6:57206400-57211600 | Weak transcription | Primary hematopoietic stem cells short term culture | blood |
36 | chr6:57206800-57208200 | Enhancers | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
37 | chr6:57206800-57210000 | Weak transcription | Thymus | Thymus |
38 | chr6:57206800-57210400 | Weak transcription | Foreskin Fibroblast Primary Cells skin01 | Skin |
39 | chr6:57207000-57210400 | Weak transcription | iPS-20b Cell Line | embryonic stem cell |
40 | chr6:57207600-57208200 | Weak transcription | Skeletal Muscle Female | skeletal muscle |
41 | chr6:57207600-57208400 | Strong transcription | NHDF-Ad | bronchial |
42 | chr6:57207600-57208800 | Weak transcription | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
43 | chr6:57207800-57210000 | Weak transcription | Foreskin Melanocyte Primary Cells skin03 | Skin |
44 | chr6:57208200-57208400 | Enhancers | Skeletal Muscle Female | skeletal muscle |
45 | chr6:57208200-57208800 | Enhancers | Psoas Muscle | Psoas |
46 | chr6:57208400-57211400 | Weak transcription | NHDF-Ad | bronchial |
47 | chr6:57208600-57208800 | Enhancers | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
48 | chr6:57208600-57210200 | Enhancers | GM12878-XiMat | blood |
49 | chr6:57208800-57209000 | ZNF genes & repeats | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
50 | chr6:57208800-57210800 | Weak transcription | H1 Cell Line | embryonic stem cell |