Variant report
Variant | nsv1049865 |
---|---|
Chromosome Location | chr14:46905406-47869220 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:2384)
- CpG islands (count:1709)
- Chromatin interactive region (count:37)
- LncRNA region (count:37)
- 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 | chr14:47060393-47060753 | HepG2 | liver: | n/a | n/a |
2 | ATF1 | chr14:47124636-47124919 | K562 | blood: | n/a | n/a |
3 | ATF1 | chr14:47227696-47227775 | K562 | blood: | n/a | n/a |
4 | ATF2 | chr14:47513971-47514339 | H1-hESC | embryonic stem cell: | n/a | n/a |
5 | ATF2 | chr14:47238352-47238954 | GM12878 | blood: | n/a | n/a |
6 | ATF2 | chr14:47238421-47238949 | GM12878 | blood: | n/a | n/a |
7 | BACH1 | chr14:47804741-47804747 | H1-hESC | embryonic stem cell: | n/a | n/a |
8 | BACH1 | chr14:47555354-47555385 | H1-hESC | embryonic stem cell: | n/a | n/a |
9 | BACH1 | chr14:47827183-47827600 | H1-hESC | embryonic stem cell: | n/a | n/a |
10 | BACH1 | chr14:47144126-47144310 | H1-hESC | embryonic stem cell: | n/a | n/a |
11 | BACH1 | chr14:47858719-47859063 | H1-hESC | embryonic stem cell: | n/a | n/a |
12 | BACH1 | chr14:47354745-47355139 | H1-hESC | embryonic stem cell: | n/a | n/a |
13 | BACH1 | chr14:47840011-47840068 | H1-hESC | embryonic stem cell: | n/a | n/a |
14 | BACH1 | chr14:47354811-47355132 | K562 | blood: | n/a | n/a |
15 | BATF | chr14:47238445-47238909 | GM12878 | blood: | n/a | chr14:47238736-47238744 |
16 | BATF | chr14:47356425-47356723 | GM12878 | blood: | n/a | chr14:47356567-47356578 |
17 | BATF | chr14:47356455-47356637 | GM12878 | blood: | n/a | chr14:47356567-47356578 |
18 | BATF | chr14:47238467-47238929 | GM12878 | blood: | n/a | chr14:47238736-47238744 |
19 | BCL11A | chr14:47514116-47514346 | H1-hESC | embryonic stem cell: | n/a | n/a |
20 | BCL11A | chr14:47287397-47287658 | H1-hESC | embryonic stem cell: | n/a | n/a |
21 | BCL11A | chr14:47238500-47238903 | GM12878 | blood: | n/a | chr14:47238829-47238838 chr14:47238615-47238624 |
22 | BCL11A | chr14:47514066-47514301 | H1-hESC | embryonic stem cell: | n/a | n/a |
23 | BCLAF1 | chr14:47238310-47239094 | GM12878 | blood: | n/a | chr14:47238829-47238838 chr14:47238615-47238624 |
24 | BCLAF1 | chr14:46959550-46960028 | GM12878 | blood: | n/a | n/a |
25 | BHLHE40 | chr14:47657519-47657543 | GM12878 | blood: | n/a | n/a |
26 | BHLHE40 | chr14:47050460-47050552 | GM12878 | blood: | n/a | n/a |
27 | BHLHE40 | chr14:47238505-47238975 | GM12878 | blood: | n/a | n/a |
28 | BHLHE40 | chr14:47243207-47243216 | GM12878 | blood: | n/a | n/a |
29 | BRCA1 | chr14:47509696-47510005 | H1-hESC | embryonic stem cell: | n/a | n/a |
30 | BRCA1 | chr14:47303861-47303947 | Hela-S3 | cervix: | n/a | n/a |
31 | CBX3 | chr14:47128948-47129132 | K562 | blood: | n/a | n/a |
32 | CEBPB | chr14:47007725-47007946 | H1-hESC | embryonic stem cell: | n/a | chr14:47007809-47007820 |
33 | CEBPB | chr14:47743152-47743531 | K562 | blood: | n/a | n/a |
34 | CEBPB | chr14:47237873-47237945 | H1-hESC | embryonic stem cell: | n/a | chr14:47237881-47237890 chr14:47237881-47237890 chr14:47237879-47237892 chr14:47237881-47237890 |
35 | CEBPB | chr14:47366505-47366846 | HepG2 | liver: | n/a | chr14:47366671-47366680 chr14:47366671-47366682 chr14:47366669-47366682 chr14:47366669-47366680 |
36 | CEBPB | chr14:47617920-47618180 | H1-hESC | embryonic stem cell: | n/a | chr14:47618074-47618085 |
37 | CEBPB | chr14:47099640-47099928 | HepG2 | liver: | n/a | chr14:47099772-47099783 |
38 | CEBPB | chr14:47485719-47485919 | A549 | lung: | n/a | chr14:47485846-47485857 chr14:47485886-47485898 |
39 | CEBPB | chr14:47052695-47053004 | A549 | lung: | n/a | chr14:47052838-47052849 |
40 | CEBPB | chr14:47647084-47647297 | A549 | lung: | n/a | n/a |
41 | CEBPB | chr14:47393770-47394030 | H1-hESC | embryonic stem cell: | n/a | chr14:47393873-47393882 chr14:47393873-47393884 chr14:47393871-47393882 chr14:47393873-47393882 chr14:47393871-47393884 chr14:47393873-47393882 chr14:47393871-47393884 chr14:47393873-47393882 |
42 | CEBPB | chr14:47649157-47649470 | Hela-S3 | cervix: | n/a | chr14:47649288-47649299 chr14:47649318-47649329 |
43 | CEBPB | chr14:47288797-47289144 | HepG2 | liver: | n/a | chr14:47288961-47288972 |
44 | CEBPB | chr14:47079847-47080076 | A549 | lung: | n/a | chr14:47079944-47079955 |
45 | CEBPB | chr14:46959344-46959844 | MCF-7 | breast: | n/a | chr14:46959575-46959586 chr14:46959590-46959603 |
46 | CEBPB | chr14:47068392-47068645 | A549 | lung: | n/a | chr14:47068490-47068503 |
47 | CEBPB | chr14:47514120-47514377 | H1-hESC | embryonic stem cell: | n/a | n/a |
48 | CEBPB | chr14:47099568-47099959 | MCF-7 | breast: | n/a | chr14:47099772-47099783 |
49 | CEBPB | chr14:47099591-47099933 | ECC-1 | luminal epithelium: | n/a | chr14:47099772-47099783 |
50 | CEBPB | chr14:47007631-47007991 | HepG2 | liver: | n/a | chr14:47007809-47007820 |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr14:47544244-47544294 | HMEC | breast: | n/a |
2 | chr14:47544244-47544294 | HMEC | breast: | n/a |
3 | chr14:46916528-46916578 | MCF-7 | breast: | n/a |
4 | chr14:47123298-47123348 | PFSK-1 | brain: | n/a |
5 | chr14:47121002-47121052 | SK-N-MC | brain: | n/a |
6 | chr14:47859275-47859325 | NH-A | brain: | n/a |
7 | chr14:47121132-47121182 | LNCaP | prostate: | n/a |
8 | chr14:47670060-47670110 | AG09319 | gingival: | n/a |
9 | chr14:47310377-47310427 | NB4 | blood: | n/a |
10 | chr14:46916528-46916578 | HRPEpiC | eye: | n/a |
11 | chr14:47120920-47120970 | HRPEpiC | eye: | n/a |
12 | chr14:47123088-47123138 | SAEC | small airway: | n/a |
13 | chr14:46916528-46916578 | SK-N-MC | brain: | n/a |
14 | chr14:47121117-47121167 | GM19239 | blood: | n/a |
15 | chr14:47096230-47096280 | PFSK-1 | brain: | n/a |
16 | chr14:47123088-47123138 | SKMC | muscle: | n/a |
17 | chr14:47834520-47834570 | GM19239 | blood: | n/a |
18 | chr14:47121002-47121052 | HRE | kidney: | n/a |
19 | chr14:47121117-47121167 | NHBE | bronchial: | n/a |
20 | chr14:47572921-47572971 | PANC-1 | pancreas: | n/a |
21 | chr14:47120507-47120557 | H1-hESC | embryonic stem cell: | embryo |
22 | chr14:47121132-47121182 | HCT-116 | colon: | n/a |
23 | chr14:47834520-47834570 | PrEC | prostate: | n/a |
24 | chr14:47096230-47096280 | SK-N-SH_RA | brain: | n/a |
25 | chr14:47121158-47121208 | U87 | brain: | n/a |
26 | chr14:47311141-47311191 | Hela-S3 | cervix: | n/a |
27 | chr14:47544244-47544294 | HCT-116 | colon: | n/a |
28 | chr14:47812515-47812565 | SK-N-SH_RA | brain: | n/a |
29 | chr14:47834520-47834570 | NH-A | brain: | n/a |
30 | chr14:47121033-47121083 | AG09319 | gingival: | n/a |
31 | chr14:47104140-47104190 | LNCaP | prostate: | n/a |
32 | chr14:47859275-47859325 | HepG2 | liver: | n/a |
33 | chr14:47310377-47310427 | HNPCEpiC | eye: | n/a |
34 | chr14:47121132-47121182 | MCF10A-Er-Src | breast: | n/a |
35 | chr14:47121002-47121052 | HIPEpiC | eye: | n/a |
36 | chr14:47311141-47311191 | T-47D | breast: | n/a |
37 | chr14:47670060-47670110 | Hepatocyte | liver: | n/a |
38 | chr14:47834520-47834570 | NB4 | blood: | n/a |
39 | chr14:47096230-47096280 | A549 | lung: | n/a |
40 | chr14:47120845-47120895 | MCF10A-Er-Src | breast: | n/a |
41 | chr14:47769981-47770031 | SK-N-MC | brain: | n/a |
42 | chr14:47310377-47310427 | BE2_C | brain: | n/a |
43 | chr14:47311141-47311191 | HCPEpiC | choroid plexus: | n/a |
44 | chr14:47121132-47121182 | HRE | kidney: | n/a |
45 | chr14:47572921-47572971 | RPTEC | kidney: | n/a |
46 | chr14:47120507-47120557 | SAEC | small airway: | n/a |
47 | chr14:47123298-47123348 | AG09309 | skin: | n/a |
48 | chr14:47411755-47411805 | GM12891 | blood: | n/a |
49 | chr14:47121117-47121167 | HEEpiC | esophagus: | n/a |
50 | chr14:47572921-47572971 | HEK293 | kidney: | embryo |
(count:37 , 50 per page) page:
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr14:47706399..47708616-chr14:47715847..47717651,2 | MCF-7 | breast: | |
2 | chr14:47196544..47199011-chr14:47199972..47202196,2 | K562 | blood: | |
3 | chr14:47190435..47193179-chr14:47198084..47200809,2 | MCF-7 | breast: | |
4 | chr14:47749473..47749973-chr5:68319722..68320581,2 | MCF-7 | breast: | |
5 | chr14:47049606..47051836-chr14:47067092..47069403,2 | K562 | blood: | |
6 | chr14:47190435..47193179-chr14:47198084..47200809,2 | MCF-7 | breast: | |
7 | chr14:47049935..47050932-chr14:48008149..48008898,3 | MCF-7 | breast: | |
8 | chr14:47699505..47700030-chr20:46283707..46284523,2 | MCF-7 | breast: | |
9 | chr14:47229054..47230571-chr14:47239361..47241042,2 | K562 | blood: | |
10 | chr14:47110358..47111900-chr14:47112511..47115228,2 | K562 | blood: | |
11 | chr14:47409007..47410877-chr14:47415123..47417216,2 | K562 | blood: | |
12 | chr12:54734855..54737428-chr14:47592677..47595618,2 | MCF-7 | breast: | |
13 | chr14:47417689..47420302-chr14:47420799..47423183,3 | MCF-7 | breast: | |
14 | chr14:47050056..47050875-chr14:47509400..47510237,2 | MCF-7 | breast: | |
15 | chr14:47525262..47526210-chr14:47747163..47747902,2 | MCF-7 | breast: | |
16 | chr14:47729955..47732269-chr14:47732563..47734465,2 | MCF-7 | breast: | |
17 | chr14:46517458..46517985-chr14:47049934..47050581,2 | MCF-7 | breast: | |
18 | chr14:46984156..46986673-chr14:46987478..46989928,2 | K562 | blood: | |
19 | chr14:47525262..47526210-chr14:47747163..47747902,2 | MCF-7 | breast: | |
20 | chr14:47049606..47051836-chr14:47067092..47069403,2 | K562 | blood: | |
21 | chr14:47110358..47111900-chr14:47112511..47115228,2 | K562 | blood: | |
22 | chr14:47825822..47827429-chr14:47839476..47841080,2 | K562 | blood: | |
23 | chr14:47409007..47410877-chr14:47415123..47417216,2 | K562 | blood: | |
24 | chr14:47401862..47402382-chr2:190007804..190008571,2 | MCF-7 | breast: | |
25 | chr14:47417689..47420302-chr14:47420799..47423183,3 | MCF-7 | breast: | |
26 | chr14:47729955..47732269-chr14:47732563..47734465,2 | MCF-7 | breast: | |
27 | chr14:47050056..47050875-chr14:47509400..47510237,2 | MCF-7 | breast: | |
28 | chr14:46984156..46986673-chr14:46987478..46989928,2 | K562 | blood: | |
29 | chr14:47196544..47199011-chr14:47199972..47202196,2 | K562 | blood: | |
30 | chr14:47706399..47708616-chr14:47715847..47717651,2 | MCF-7 | breast: | |
31 | chr14:47584419..47587324-chr14:47587496..47590029,2 | MCF-7 | breast: | |
32 | chr14:47229054..47230571-chr14:47239361..47241042,2 | K562 | blood: | |
33 | chr14:47050439..47051198-chr14:48008059..48008561,2 | MCF-7 | breast: | |
34 | chr14:47825822..47827429-chr14:47839476..47841080,2 | K562 | blood: | |
35 | chr14:47584419..47587324-chr14:47587496..47590029,2 | MCF-7 | breast: | |
36 | chr14:47811604..47813341-chr14:47823132..47825953,2 | K562 | blood: | |
37 | chr14:47050051..47050804-chr14:48867648..48868551,2 | MCF-7 | breast: |
(count:37 , 50 per page) page:
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-FANCM-6 | chr14:46959395-46959490 | ENSG00000258700 |
2 | lnc-FANCM-12 | chr14:47766804-47767153 | l_979_chr14:47733075-47748994_testes |
3 | lnc-FANCM-6 | chr14:46970510-46970814 | ENSG00000258700 |
4 | lnc-FANCM-12 | chr14:47747104-47747220 | l_979_chr14:47733075-47748994_testes |
5 | lnc-RPL10L-3 | chr14:47770614-47770753 | NONHSAT036687 |
6 | lnc-FANCM-12 | chr14:47748394-47748994 | l_979_chr14:47733075-47748994_testes |
7 | lnc-RPL10L-3 | chr14:47812301-47812319 | NONHSAT036687 |
8 | lnc-FANCM-12 | chr14:47765169-47765272 | l_979_chr14:47733075-47748994_testes |
9 | lnc-RPL10L-3 | chr14:47798814-47799743 | l_980_chr14:47772660-47799743_76bGuttman_hES |
10 | lnc-FANCM-6 | chr14:46940562-46940714 | ENSG00000258700 |
11 | lnc-RPL10L-3 | chr14:47772661-47773179 | l_980_chr14:47772660-47799743_76bGuttman_hES |
12 | lnc-FANCM-6 | chr14:46970510-46970814 | ENSG00000258700 |
13 | lnc-FANCM-6 | chr14:46915388-46915429 | ENSG00000258700 |
14 | lnc-RPL10L-3 | chr14:47775280-47775345 | NONHSAT036687 |
15 | lnc-FANCM-6 | chr14:46970510-46971026 | ENSG00000258700 |
16 | lnc-FANCM-11 | chr14:47465657-47466377 | NONHSAT036685 |
17 | lnc-FANCM-12 | chr14:47751190-47751359 | l_979_chr14:47733075-47748994_testes |
18 | lnc-FANCM-6 | chr14:46940562-46940714 | NONHSAT036681 |
19 | lnc-RPL10L-2 | chr14:47669778-47670307 | NONHSAT036686 |
20 | lnc-RPL10L-3 | chr14:47774434-47774526 | NONHSAT036687 |
21 | lnc-FANCM-12 | chr14:47752540-47752618 | l_979_chr14:47733075-47748994_testes |
22 | lnc-FANCM-6 | chr14:46959395-46959490 | NONHSAT036681 |
23 | lnc-FANCM-12 | chr14:47733076-47733185 | l_979_chr14:47733075-47748994_testes |
24 | lnc-FANCM-6 | chr14:46940562-46940714 | NONHSAT036680 |
25 | lnc-FANCM-6 | chr14:46970510-46971104 | NONHSAT036678 |
26 | lnc-RPL10L-3 | chr14:47774384-47774574 | l_980_chr14:47772660-47799743_76bGuttman_hES |
27 | lnc-FANCM-12 | chr14:47743855-47743971 | l_979_chr14:47733075-47748994_testes |
28 | lnc-FANCM-6 | chr14:46919111-46919157 | NONHSAT036678 |
29 | lnc-FANCM-6 | chr14:46916512-46916578 | ENSG00000258700 |
30 | lnc-FANCM-6 | chr14:46919111-46919157 | ENSG00000258700 |
31 | lnc-FANCM-6 | chr14:46907384-46907453 | ENSG00000258700 |
32 | lnc-FANCM-6 | chr14:46970510-46971104 | NONHSAT036680 |
33 | lnc-FANCM-6 | chr14:46940564-46940714 | ENSG00000258700 |
34 | lnc-FANCM-6 | chr14:46907384-46907453 | NONHSAT036678 |
35 | lnc-FANCM-6 | chr14:46970510-46971104 | NONHSAT036679 |
36 | lnc-RPL10L-3 | chr14:47768550-47768742 | NONHSAT036687 |
37 | lnc-FANCM-6 | chr14:46970510-46971104 | NONHSAT036681 |
No data |
No data |
Variant related genes | Relation type |
---|---|
RPL13AP2 | TF binding region |
RPA2P1 | TF binding region |
ENSG00000251735 | TF binding region |
MDGA2 | TF binding region |
LINC00871 | TF binding region |
RPL10L | TF binding region |
RPL13AP2 | CpG island |
RPA2P1 | CpG island |
ENSG00000251735 | CpG island |
MDGA2 | CpG island |
LINC00871 | CpG island |
RPL10L | CpG island |
ENSG00000139915 | chromatin interactions |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs200251244 | chr14:46907406-46907407 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
2 | rs561730467 | chr14:46907449-46907450 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
3 | rs534274682 | chr14:46913421-46913422 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs186296072 | chr14:46913473-46913474 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs576062249 | chr14:46913480-46913481 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs189243997 | chr14:46913484-46913485 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs558308874 | chr14:46913499-46913500 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs576605433 | chr14:46913512-46913513 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs112983121 | chr14:46913555-46913556 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs140304215 | chr14:46913591-46913592 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs374481938 | chr14:46913622-46913623 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs537543169 | chr14:46913626-46913627 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs555537512 | chr14:46913656-46913657 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs538279684 | chr14:46913684-46913685 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs574182621 | chr14:46913706-46913707 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs180790744 | chr14:46913722-46913723 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs559799249 | chr14:46913763-46913764 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs75687729 | chr14:46913835-46913836 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
19 | rs545023494 | chr14:46913838-46913839 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
20 | rs199803975 | chr14:46913858-46913859 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
21 | rs200134919 | chr14:46913859-46913860 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
22 | rs151330809 | chr14:46913886-46913887 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
23 | rs111714383 | chr14:46913887-46913888 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
24 | rs549165928 | chr14:46913894-46913895 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
25 | rs187328159 | chr14:46913895-46913896 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
26 | rs1669796 | chr14:46913902-46913903 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
27 | rs113137489 | chr14:46913943-46913944 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
28 | rs546172713 | chr14:46913948-46913949 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
29 | rs190839697 | chr14:46914006-46914007 | Weak transcription Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
30 | rs570939071 | chr14:46914018-46914019 | Weak transcription Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
31 | rs533673993 | chr14:46914075-46914076 | Weak transcription Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
32 | rs7149106 | chr14:46914093-46914094 | Weak transcription Enhancers Flanking Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
33 | rs183030924 | chr14:46914142-46914143 | Weak transcription Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
34 | rs540928360 | chr14:46914168-46914169 | Weak transcription Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
35 | rs556016423 | chr14:46914203-46914204 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs528107049 | chr14:46914212-46914213 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs535154048 | chr14:46914218-46914219 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
38 | rs150056470 | chr14:46914249-46914250 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
39 | rs117424715 | chr14:46914255-46914256 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
40 | rs545396800 | chr14:46914257-46914258 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
41 | rs118191426 | chr14:46914276-46914277 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
42 | rs12587064 | chr14:46914278-46914279 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
43 | rs542425358 | chr14:46914286-46914287 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
44 | rs12589655 | chr14:46914306-46914307 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
45 | rs185859713 | chr14:46914336-46914337 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
46 | rs146620829 | chr14:46914360-46914361 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
47 | rs543208363 | chr14:46914439-46914440 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
48 | rs564528896 | chr14:46914448-46914449 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
49 | rs190316013 | chr14:46914522-46914523 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
50 | rs183044994 | chr14:46914555-46914556 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Esophageal cancer | 21851588 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Retinoblastoma | 21504564 | CNVD |
High-proliferative meningiomas | 17937814 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Autism | 22495311 | CNVD |
Non-small cell lung cancer | 21044232 | CNVD |
Renal cell carcinoma | 19461508 | CNVD |
Cancer | 21637783 | CNVD |
Colorectal cancer | 20709793 | CNVD |
Melanoma | 18172304 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Oral cancer | 21386901 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Breast cancer | 21264507 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Colorectal cancer | 16774939 | CNVD |
Neuroblastoma | 19435921 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Breast cancer | 17899364 | CNVD |
Gastrointestinal stromal cancer | 19259404 | CNVD |
Gastrointestinal stromal cancer | 17535989 | CNVD |
Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
Paraganglioma | 17535989 | CNVD |
Pulmonary chondroma | 17535989 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Gastrointestinal stromal cancer | 16982739 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Gastrointestinal stromal cancer | 20818650 | CNVD |
Renal cell carcinoma | 21668985 | CNVD |
Chronic myeloid leukemia | 20724749 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Wilms tumour | 21544195 | CNVD |
Lung cancer | 18438408 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Multiple myeloma | 17550852 | CNVD |
Breast cancer | 21785460 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Prostate cancer | 18632612 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Breast cancer | 21858162 | CNVD |
Hirschsprung''s Disease | 21712996 | CNVD |
Cancer | 21183584 | CNVD |
Oral squamous cell carcinoma | 17134496 | CNVD |
Renal cell carcinoma | 18194544 | CNVD |
Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Acute lymphoblastic leukemia | 21098271 | CNVD |
Cancer | 20164919 | CNVD |
Breast cancer | 22522925 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Cancer | 19907438 | CNVD |
Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
Schizophrenia | 20967226 | CNVD |
Osteosarcoma | 21215367 | CNVD |
Gastric cancer | 18160780 | CNVD |
Bipolar disorder | 19214233 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr14:46913400-46913800 | Enhancers | Fetal Kidney | kidney |
2 | chr14:46913400-46914000 | Enhancers | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
3 | chr14:46913400-46914400 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
4 | chr14:46913600-46913800 | Enhancers | HUES48 Cell Line | embryonic stem cell |
5 | chr14:46913800-46914200 | Flanking Active TSS | Fetal Kidney | kidney |
6 | chr14:46913800-46916600 | Enhancers | Fetal Intestine Large | intestine |
7 | chr14:46914000-46915000 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
8 | chr14:46914000-46916000 | Weak transcription | HUES48 Cell Line | embryonic stem cell |
9 | chr14:46914400-46915200 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
10 | chr14:46914800-46915600 | Enhancers | Fetal Intestine Small | intestine |
11 | chr14:46915000-46916200 | Enhancers | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
12 | chr14:46915200-46915400 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
13 | chr14:46915400-46916600 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
14 | chr14:46915400-46916600 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
15 | chr14:46915600-46916400 | Enhancers | H1 Cell Line | embryonic stem cell |
16 | chr14:46915800-46916800 | Enhancers | HUES6 Cell Line | embryonic stem cell |
17 | chr14:46915800-46916800 | Enhancers | HUES64 Cell Line | embryonic stem cell |
18 | chr14:46915800-46916800 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
19 | chr14:46915800-46917400 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
20 | chr14:46916000-46916800 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
21 | chr14:46916000-46917000 | Enhancers | HUES48 Cell Line | embryonic stem cell |
22 | chr14:46916200-46917600 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
23 | chr14:46916600-46917800 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
24 | chr14:46917600-46917800 | Enhancers | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
25 | chr14:46917800-46918000 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
26 | chr14:46927600-46927800 | ZNF genes & repeats | Primary T helper memory cells from peripheral blood 1 | blood |
27 | chr14:46927800-46934200 | Weak transcription | Primary T helper memory cells from peripheral blood 1 | blood |
28 | chr14:46941400-46941800 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
29 | chr14:46949600-46954000 | Enhancers | Liver | Liver |
30 | chr14:46954000-46955800 | Weak transcription | Liver | Liver |
31 | chr14:46955600-46958200 | Weak transcription | Rectal Mucosa Donor 31 | rectum |
32 | chr14:46955800-46958600 | Enhancers | Liver | Liver |
33 | chr14:46956400-46957400 | Enhancers | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
34 | chr14:46956600-46957000 | Enhancers | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
35 | chr14:46956800-46957200 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
36 | chr14:46958600-46959600 | Weak transcription | Liver | Liver |
37 | chr14:46959200-46959400 | Enhancers | Primary hematopoietic stem cells | blood |
38 | chr14:46959200-46960000 | Active TSS | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
39 | chr14:46959400-46959600 | Active TSS | Primary hematopoietic stem cells short term culture | blood |
40 | chr14:46959400-46959800 | Active TSS | Primary hematopoietic stem cells G-CSF-mobilized Female | -- |
41 | chr14:46959400-46959800 | Active TSS | Duodenum Mucosa | Duodenum |
42 | chr14:46959400-46959800 | Active TSS | GM12878-XiMat | blood |
43 | chr14:46959400-46960000 | Active TSS | Primary hematopoietic stem cells | blood |
44 | chr14:46959400-46960000 | Active TSS | Fetal Intestine Small | intestine |
45 | chr14:46959600-46959800 | Flanking Active TSS | Primary hematopoietic stem cells short term culture | blood |
46 | chr14:46959600-46960000 | Enhancers | Liver | Liver |
47 | chr14:46959600-46960000 | Active TSS | Fetal Intestine Large | intestine |
48 | chr14:46959800-46960200 | Enhancers | GM12878-XiMat | blood |
49 | chr14:46960000-46960200 | Flanking Active TSS | Fetal Intestine Large | intestine |
50 | chr14:46960000-46962800 | Weak transcription | Liver | Liver |