Variant report
Variant | esv1817932 |
---|---|
Chromosome Location | chr15:30362487-30950529 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:4087)
- CpG islands (count:3179)
- Chromatin interactive region (count:7)
- LncRNA region (count:59)
- 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 | chr15:30917841-30918381 | K562 | blood: | n/a | n/a |
2 | ARID3A | chr15:30941065-30941323 | HepG2 | liver: | n/a | chr15:30941184-30941200 chr15:30941198-30941214 |
3 | ARID3A | chr15:30917819-30918297 | HepG2 | liver: | n/a | n/a |
4 | ATF1 | chr15:30942408-30942747 | K562 | blood: | n/a | n/a |
5 | ATF1 | chr15:30917774-30918461 | K562 | blood: | n/a | n/a |
6 | ATF2 | chr15:30918103-30918425 | H1-hESC | embryonic stem cell: | n/a | n/a |
7 | ATF2 | chr15:30917694-30918103 | GM12878 | blood: | n/a | n/a |
8 | ATF2 | chr15:30917808-30918347 | H1-hESC | embryonic stem cell: | n/a | n/a |
9 | ATF2 | chr15:30917709-30918426 | GM12878 | blood: | n/a | n/a |
10 | ATF2 | chr15:30941959-30942874 | GM12878 | blood: | n/a | n/a |
11 | ATF3 | chr15:30917703-30918445 | A549 | lung: | n/a | n/a |
12 | BACH1 | chr15:30396041-30396079 | H1-hESC | embryonic stem cell: | n/a | n/a |
13 | BATF | chr15:30678661-30679029 | GM12878 | blood: | n/a | chr15:30678848-30678858 chr15:30678844-30678854 |
14 | BATF | chr15:30939417-30939718 | GM12878 | blood: | n/a | n/a |
15 | BATF | chr15:30442191-30442458 | GM12878 | blood: | n/a | n/a |
16 | BATF | chr15:30626371-30626674 | GM12878 | blood: | n/a | chr15:30626595-30626606 |
17 | BATF | chr15:30411972-30412280 | GM12878 | blood: | n/a | n/a |
18 | BATF | chr15:30720885-30721174 | GM12878 | blood: | n/a | n/a |
19 | BATF | chr15:30793866-30794121 | GM12878 | blood: | n/a | n/a |
20 | BATF | chr15:30412052-30412331 | GM12878 | blood: | n/a | n/a |
21 | BATF | chr15:30765290-30765504 | GM12878 | blood: | n/a | n/a |
22 | BATF | chr15:30763002-30763213 | GM12878 | blood: | n/a | n/a |
23 | BATF | chr15:30428014-30428211 | GM12878 | blood: | n/a | n/a |
24 | BATF | chr15:30411642-30411805 | GM12878 | blood: | n/a | n/a |
25 | BATF | chr15:30717407-30718307 | GM12878 | blood: | n/a | n/a |
26 | BATF | chr15:30402631-30402999 | GM12878 | blood: | n/a | chr15:30402836-30402847 chr15:30402837-30402847 chr15:30402841-30402851 |
27 | BATF | chr15:30832413-30833670 | GM12878 | blood: | n/a | chr15:30833063-30833074 |
28 | BATF | chr15:30829434-30829723 | GM12878 | blood: | n/a | n/a |
29 | BATF | chr15:30858799-30859444 | GM12878 | blood: | n/a | n/a |
30 | BATF | chr15:30402704-30403029 | GM12878 | blood: | n/a | chr15:30402836-30402847 chr15:30402837-30402847 chr15:30402841-30402851 |
31 | BATF | chr15:30459001-30459247 | GM12878 | blood: | n/a | n/a |
32 | BATF | chr15:30871690-30872015 | GM12878 | blood: | n/a | chr15:30871822-30871833 chr15:30871827-30871837 chr15:30871823-30871833 |
33 | BATF | chr15:30880957-30881265 | GM12878 | blood: | n/a | n/a |
34 | BATF | chr15:30389801-30390448 | GM12878 | blood: | n/a | n/a |
35 | BATF | chr15:30716939-30717383 | GM12878 | blood: | n/a | n/a |
36 | BATF | chr15:30793879-30794120 | GM12878 | blood: | n/a | n/a |
37 | BATF | chr15:30832414-30833216 | GM12878 | blood: | n/a | chr15:30833063-30833074 |
38 | BATF | chr15:30691171-30691739 | GM12878 | blood: | n/a | n/a |
39 | BATF | chr15:30458984-30459268 | GM12878 | blood: | n/a | n/a |
40 | BATF | chr15:30717393-30718193 | GM12878 | blood: | n/a | n/a |
41 | BATF | chr15:30678631-30678956 | GM12878 | blood: | n/a | chr15:30678848-30678858 chr15:30678844-30678854 |
42 | BATF | chr15:30917720-30918566 | GM12878 | blood: | n/a | n/a |
43 | BATF | chr15:30881037-30881316 | GM12878 | blood: | n/a | n/a |
44 | BATF | chr15:30626382-30626790 | GM12878 | blood: | n/a | chr15:30626595-30626606 |
45 | BATF | chr15:30942101-30942823 | GM12878 | blood: | n/a | n/a |
46 | BATF | chr15:30763776-30764872 | GM12878 | blood: | n/a | n/a |
47 | BATF | chr15:30871617-30871985 | GM12878 | blood: | n/a | chr15:30871822-30871833 chr15:30871827-30871837 chr15:30871823-30871833 |
48 | BATF | chr15:30763589-30764924 | GM12878 | blood: | n/a | n/a |
49 | BATF | chr15:30765283-30765578 | GM12878 | blood: | n/a | n/a |
50 | BATF | chr15:30939410-30939698 | GM12878 | blood: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr15:30918339-30918389 | HRCEpiC | kidney: | n/a |
2 | chr15:30917918-30917968 | HEEpiC | esophagus: | n/a |
3 | chr15:30918328-30918378 | CMK | blood: | n/a |
4 | chr15:30396121-30396171 | MCF10A-Er-Src | breast: | n/a |
5 | chr15:30654880-30654930 | ECC-1 | luminal epithelium: | n/a |
6 | chr15:30516906-30516956 | ProgFib | skin: | n/a |
7 | chr15:30518064-30518114 | HCT-116 | colon: | n/a |
8 | chr15:30918339-30918389 | HRCEpiC | kidney: | n/a |
9 | chr15:30917918-30917968 | HEEpiC | esophagus: | n/a |
10 | chr15:30918328-30918378 | CMK | blood: | n/a |
11 | chr15:30396121-30396171 | MCF10A-Er-Src | breast: | n/a |
12 | chr15:30654880-30654930 | ECC-1 | luminal epithelium: | n/a |
13 | chr15:30516906-30516956 | ProgFib | skin: | n/a |
14 | chr15:30518064-30518114 | HCT-116 | colon: | n/a |
15 | chr15:30666736-30666786 | H1-hESC | embryonic stem cell: | embryo |
16 | chr15:30700112-30700162 | NT2-D1 | testis: | n/a |
17 | chr15:30685198-30685248 | RPTEC | kidney: | n/a |
18 | chr15:30865191-30865241 | GM12878 | blood: | n/a |
19 | chr15:30917958-30918008 | Caco-2 | colon: | n/a |
20 | chr15:30366335-30366385 | HEEpiC | esophagus: | n/a |
21 | chr15:30654880-30654930 | HepG2 | liver: | n/a |
22 | chr15:30866091-30866141 | NH-A | brain: | n/a |
23 | chr15:30520018-30520068 | HepG2 | liver: | n/a |
24 | chr15:30861172-30861222 | AG04449 | skin: | fetal |
25 | chr15:30763487-30763537 | PrEC | prostate: | n/a |
26 | chr15:30918065-30918115 | NT2-D1 | testis: | n/a |
27 | chr15:30919014-30919064 | HPAEpiC | pulmonary alveolar: | n/a |
28 | chr15:30483647-30483697 | T-47D | breast: | n/a |
29 | chr15:30917958-30918008 | HL-60 | blood: | n/a |
30 | chr15:30844060-30844110 | ProgFib | skin: | n/a |
31 | chr15:30511386-30511436 | MCF10A-Er-Src | breast: | n/a |
32 | chr15:30865191-30865241 | GM12892 | blood: | n/a |
33 | chr15:30896216-30896266 | LNCaP | prostate: | n/a |
34 | chr15:30365409-30365459 | NHDF-neo | bronchial: | n/a |
35 | chr15:30763484-30763534 | AG09319 | gingival: | n/a |
36 | chr15:30517589-30517639 | HCT-116 | colon: | n/a |
37 | chr15:30918595-30918645 | AG04450 | lung: | fetal |
38 | chr15:30365409-30365459 | HNPCEpiC | eye: | n/a |
39 | chr15:30396121-30396171 | AG04449 | skin: | fetal |
40 | chr15:30896216-30896266 | HIPEpiC | eye: | n/a |
41 | chr15:30930499-30930549 | RPTEC | kidney: | n/a |
42 | chr15:30482157-30482207 | ProgFib | skin: | n/a |
43 | chr15:30515844-30515894 | LNCaP | prostate: | n/a |
44 | chr15:30366335-30366385 | BJ | skin: | n/a |
45 | chr15:30516422-30516472 | BJ | skin: | n/a |
46 | chr15:30434661-30434711 | HPAEpiC | pulmonary alveolar: | n/a |
47 | chr15:30517589-30517639 | HCF | heart: | n/a |
48 | chr15:30699977-30700027 | H1-hESC | embryonic stem cell: | embryo |
49 | chr15:30763487-30763537 | PANC-1 | pancreas: | n/a |
50 | chr15:30677804-30677854 | NH-A | brain: | n/a |
(count:7 , 50 per page) page:
1
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr15:30039724..30040629-chr15:30367249..30368123,2 | K562 | blood: | |
2 | chr15:30918095..30918834-chr2:231728599..231729465,2 | Hela-S3 | cervix: | |
3 | chr15:30233133..30233805-chr15:30367233..30367920,2 | MCF-7 | breast: | |
4 | chr15:30359405..30361703-chr15:30365403..30368382,2 | MCF-7 | breast: | |
5 | chr15:30917826..30919798-chr15:32905900..32908033,2 | K562 | blood: | |
6 | chr15:30916698..30918883-chr15:32905767..32907284,2 | MCF-7 | breast: | |
7 | chr15:29959926..29960944-chr15:30367131..30368208,4 | K562 | blood: |
No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-RP11-382B18.2.1-2 | chr15:30679087-30679190 | NONHSAT041347 |
2 | lnc-CHRFAM7A-1 | chr15:30462766-30462831 | ENSG00000259906.1 |
3 | lnc-RP11-382B18.2.1-1 | chr15:30909201-30909447 | ENSG00000247728.2 |
4 | lnc-CHRNA7-2 | chr15:30865088-30865219 | NONHSAT041367 |
5 | lnc-CHRNA7-2 | chr15:30865172-30865219 | NONHSAT140224 |
6 | lnc-AC026150.9.1-1 | chr15:30838015-30838172 | ENSG00000260693.1 |
7 | lnc-AC120045.3-4 | chr15:30383854-30384132 | NONHSAT041327 |
8 | lnc-CHRNA7-2 | chr15:30892305-30892850 | NONHSAT140224 |
9 | lnc-CHRNA7-2 | chr15:30864758-30864774 | NONHSAT041366 |
10 | lnc-RP11-382B18.2.1-2 | chr15:30675247-30675585 | NONHSAT041348 |
11 | lnc-CHRNA7-2 | chr15:30875097-30875160 | NONHSAT041368 |
12 | lnc-RP5-1086D14.3.1-1 | chr15:30488239-30488317 | ENSG00000225930.2 |
13 | lnc-ARHGAP11B-1 | chr15:30916697-30916815 | NONHSAT041376 |
14 | lnc-CHRNA7-2 | chr15:30865172-30865219 | NONHSAT041366 |
15 | lnc-RP5-1086D14.3.1-1 | chr15:30502620-30504471 | ENSG00000225930.2 |
16 | lnc-CHRNA7-2 | chr15:30888863-30888941 | NONHSAT041366 |
17 | lnc-CHRNA7-2 | chr15:30888863-30888941 | NONHSAT140224 |
18 | lnc-CHRNA7-2 | chr15:30892305-30892900 | NONHSAT041368 |
19 | lnc-CHRNA7-2 | chr15:30888863-30889187 | NONHSAT041367 |
20 | lnc-CHRNA7-2 | chr15:30892305-30892911 | NONHSAT041366 |
21 | lnc-AC120045.3-2 | chr15:30435925-30436203 | NONHSAT041332 |
22 | lnc-GOLGA8H-2 | chr15:30941000-30941732 | ENSG00000269974.1 |
23 | lnc-AC026150.9.1-3 | chr15:30780166-30782516 | ENSG00000270055.1 |
24 | lnc-CHRFAM7A-1 | chr15:30462912-30462975 | ENSG00000259906.1 |
25 | lnc-ARHGAP11B-2 | chr15:30904916-30905194 | NONHSAT041372 |
26 | lnc-AC026150.9.1-1 | chr15:30832296-30832742 | ENSG00000260693.1 |
27 | lnc-RP11-382B18.2.1-2 | chr15:30679066-30679190 | NONHSAT041348 |
28 | lnc-ARHGAP11B-1 | chr15:30939871-30939917 | NONHSAT041382 |
29 | lnc-ARHGAP11B-1 | chr15:30938335-30938498 | NONHSAT041382 |
30 | lnc-CHRFAM7A-1 | chr15:30471079-30472146 | ENSG00000259906.1 |
31 | lnc-RP11-382B18.2.1-2 | chr15:30673906-30674079 | NONHSAT041347 |
32 | lnc-CHRNA7-2 | chr15:30871491-30871615 | NONHSAT041367 |
33 | lnc-GOLGA8H-1 | chr15:30909161-30909952 | ENSG00000269930.1 |
34 | lnc-CHRFAM7A-2 | chr15:30649969-30650976 | ENSG00000270173.1 |
35 | lnc-CHRFAM7A-1 | chr15:30471212-30471332 | ENSG00000259906.1 |
36 | lnc-RP11-382B18.2.1-1 | chr15:30917254-30917976 | ENSG00000247728.2 |
37 | lnc-AC026150.9.1-1 | chr15:30836768-30836863 | ENSG00000260693.1 |
38 | lnc-RP5-1086D14.3.1-1 | chr15:30488239-30488317 | ENSG00000225930.3 |
39 | lnc-RP5-1086D14.3.1-1 | chr15:30491478-30491534 | ENSG00000225930.2 |
40 | lnc-RP11-382B18.2.1-1 | chr15:30917254-30917976 | ENSG00000247728 |
41 | lnc-RP11-382B18.2.1-1 | chr15:30857143-30857384 | ENSG00000247728 |
42 | lnc-RP11-382B18.2.1-3 | chr15:30899898-30900396 | ENSG00000270016.1 |
43 | lnc-ARHGAP11B-1 | chr15:30916926-30917019 | NONHSAT041376 |
44 | lnc-ARHGAP11B-1 | chr15:30917557-30918469 | NONHSAT041376 |
45 | lnc-CHRNA7-2 | chr15:30865172-30865219 | NONHSAT041368 |
46 | lnc-CHRNA7-2 | chr15:30871491-30871615 | NONHSAT140224 |
47 | lnc-CHRNA7-2 | chr15:30871491-30871615 | NONHSAT041368 |
48 | lnc-CHRFAM7A-3 | chr15:30697514-30697792 | NONHSAT041354 |
49 | lnc-AC026150.9.1-4 | chr15:30749372-30751192 | ucscGeneNc_uc001zhb_2 |
50 | lnc-CHRNA7-3 | chr15:30852855-30853133 | NONHSAT041364 |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000221593 | TF binding region |
ENSG00000207430 | TF binding region |
RN7SL196P | TF binding region |
RN7SL628P | TF binding region |
GOLGA8H | TF binding region |
ULK4P3 | TF binding region |
ARHGAP11B | TF binding region |
RNU6-17P | TF binding region |
ENSG00000247728 | TF binding region |
RN7SL469P | TF binding region |
ENSG00000238519 | TF binding region |
ENSG00000260693 | TF binding region |
GOLGA8R | TF binding region |
RN7SL796P | TF binding region |
DNM1P50 | TF binding region |
ENSG00000238783 | TF binding region |
ENSG00000263070 | TF binding region |
ENSG00000225930 | TF binding region |
ENSG00000260784 | TF binding region |
ENSG00000270173 | TF binding region |
ENSG00000252602 | TF binding region |
ENSG00000271333 | TF binding region |
ENSG00000215302 | TF binding region |
ENSG00000221785 | TF binding region |
CHRFAM7A | TF binding region |
ENSG00000261747 | TF binding region |
ENSG00000221250 | TF binding region |
ENSG00000270016 | TF binding region |
ENSG00000221723 | TF binding region |
ENSG00000207432 | TF binding region |
RN7SL673P | TF binding region |
ULK4P2 | TF binding region |
GOLGA8T | TF binding region |
DNM1P30 | TF binding region |
ENSG00000269930 | TF binding region |
ENSG00000269974 | TF binding region |
ENSG00000259906 | TF binding region |
ENSG00000229389 | TF binding region |
ENSG00000270055 | TF binding region |
GOLGA8J | TF binding region |
DNM1P28 | TF binding region |
ENSG00000270955 | TF binding region |
ENSG00000221358 | TF binding region |
ENSG00000259993 | TF binding region |
GOLGA8Q | TF binding region |
ENSG00000221593 | CpG island |
ENSG00000207430 | CpG island |
RN7SL196P | CpG island |
RN7SL628P | CpG island |
GOLGA8H | CpG island |
ULK4P3 | CpG island |
ARHGAP11B | CpG island |
RNU6-17P | CpG island |
ENSG00000247728 | CpG island |
RN7SL469P | CpG island |
ENSG00000238519 | CpG island |
ENSG00000260693 | CpG island |
GOLGA8R | CpG island |
RN7SL796P | CpG island |
DNM1P50 | CpG island |
ENSG00000238783 | CpG island |
ENSG00000263070 | CpG island |
ENSG00000225930 | CpG island |
ENSG00000260784 | CpG island |
ENSG00000270173 | CpG island |
ENSG00000252602 | CpG island |
ENSG00000271333 | CpG island |
ENSG00000215302 | CpG island |
ENSG00000221785 | CpG island |
CHRFAM7A | CpG island |
ENSG00000261747 | CpG island |
ENSG00000221250 | CpG island |
ENSG00000270016 | CpG island |
ENSG00000221723 | CpG island |
ENSG00000207432 | CpG island |
RN7SL673P | CpG island |
ULK4P2 | CpG island |
GOLGA8T | CpG island |
DNM1P30 | CpG island |
ENSG00000269930 | CpG island |
ENSG00000269974 | CpG island |
ENSG00000259906 | CpG island |
ENSG00000229389 | CpG island |
ENSG00000270055 | CpG island |
GOLGA8J | CpG island |
DNM1P28 | CpG island |
ENSG00000270955 | CpG island |
ENSG00000221358 | CpG island |
ENSG00000259993 | CpG island |
GOLGA8Q | CpG island |
ENSG00000244952 | chromatin interactions |
ENSG00000135916 | chromatin interactions |
ENSG00000198826 | chromatin interactions |
ENSG00000262728 | chromatin interactions |
TGFB2 | miRNA target sites |
PRKAB2 | miRNA target sites |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs527637812 | chr15:30362491-30362492 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs138613414 | chr15:30362499-30362500 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs546878614 | chr15:30362516-30362517 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs141630352 | chr15:30362560-30362561 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs561237673 | chr15:30362576-30362577 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs188738394 | chr15:30362580-30362581 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs549939676 | chr15:30362620-30362621 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs569885536 | chr15:30362670-30362671 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs532121303 | chr15:30362690-30362691 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs112158845 | chr15:30362757-30362758 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs565540522 | chr15:30362805-30362806 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs146375642 | chr15:30362889-30362890 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs368657488 | chr15:30362894-30362895 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs576891267 | chr15:30362895-30362896 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs79166341 | chr15:30362907-30362908 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs77490394 | chr15:30362910-30362911 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs554940735 | chr15:30362913-30362914 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs193213158 | chr15:30362941-30362942 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs139362755 | chr15:30362965-30362966 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs374562046 | chr15:30362977-30362978 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs576929303 | chr15:30363015-30363016 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs545176061 | chr15:30363039-30363040 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs112816833 | chr15:30363108-30363109 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs572390245 | chr15:30363141-30363142 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs541011800 | chr15:30363142-30363143 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs535804400 | chr15:30363155-30363156 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs530347038 | chr15:30363156-30363157 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs550681643 | chr15:30363211-30363212 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs144402435 | chr15:30363224-30363225 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs563737385 | chr15:30363307-30363308 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs529778450 | chr15:30363343-30363344 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs200040871 | chr15:30363375-30363376 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs182211541 | chr15:30363377-30363378 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs552030208 | chr15:30363383-30363384 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs537829958 | chr15:30363456-30363457 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs535904498 | chr15:30363466-30363467 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs201266434 | chr15:30363483-30363484 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs186558936 | chr15:30363509-30363510 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs12898958 | chr15:30363549-30363550 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs565755501 | chr15:30363552-30363553 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs528105259 | chr15:30363564-30363565 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs372356662 | chr15:30363578-30363579 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs202133919 | chr15:30363592-30363593 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs61615130 | chr15:30363597-30363598 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs58232655 | chr15:30363649-30363650 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
46 | rs536864019 | chr15:30363660-30363661 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs61302103 | chr15:30363733-30363734 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
48 | rs59325541 | chr15:30363744-30363745 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs376506900 | chr15:30363802-30363803 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs376714756 | chr15:30363803-30363804 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Ovarian cancer | 21720365 | CNVD |
HDAC8 | 0 | CNVD |
NIPBL | 0 | CNVD |
RAD21 | 0 | CNVD |
SMC1A | 0 | CNVD |
SMC3 | 0 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Schizophrenia | 19415332 | CNVD |
Breast cancer | 22522925 | CNVD |
Autism | 22495311 | CNVD |
Wilms tumour | 21544195 | CNVD |
Prader-willi syndrome | 21504564 | CNVD |
The inv dup or idic syndrome | 19019226 | CNVD |
Prader-willi syndrome | 21233802 | CNVD |
Angelman syndrome | 16617304 | CNVD |
Angelman syndrome | 20970697 | CNVD |
Autism | 22958593 | CNVD |
Prader-willi syndrome | 16617304 | CNVD |
Prader-willi syndrome | 18923514 | CNVD |
Prader-willi syndrome | 20970697 | CNVD |
Angelman syndrome | 16183798 | CNVD |
Angelman syndrome | 18923514 | CNVD |
Prader-willi syndrome | 22241247 | CNVD |
Epilepsy | 20970697 | CNVD |
Autism | 20970697 | CNVD |
Autism | 19935738 | CNVD |
Autism | 22930557 | CNVD |
Autism | 19966786 | CNVD |
Autism | 18923514 | CNVD |
Autism | 18925931 | CNVD |
Autism | 18835857 | CNVD |
Prader-willi syndrome | 18835857 | CNVD |
Prader-willi syndrome | 22152151 | CNVD |
Autism | 22241247 | CNVD |
15q-syndrome | 21725066 | CNVD |
Prader-willi syndrome | 21503198 | CNVD |
Autism | 21956041 | CNVD |
Prader-willi syndrome | 16760730 | CNVD |
Prader-willi syndrome | 22470819 | CNVD |
prenatal diagnosis | 20453657 | CNVD |
Prader-willi syndrome | 17867985 | CNVD |
Angelman syndrome | 21072004 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Testicular germ cell tumor | 18059402 | CNVD |
cataract | 16735990 | CNVD |
Cancer | 21637783 | CNVD |
Colorectal cancer | 20709793 | CNVD |
Medulloblastoma | 21979893 | CNVD |
spastic paraplegia with thinning of corpus callosum | 19105190 | CNVD |
Schizophrenia | 21324950 | CNVD |
Astrocytoma | 17387387 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Breast cancer | 21264507 | CNVD |
Disease | 21824424 | CNVD |
Hodgkin''s lymphoma | 18641027 | CNVD |
Prader-willi syndrome | 18781185 | CNVD |
Melanoma | 18172304 | CNVD |
Autism | 17322880 | CNVD |
Prader-willi syndrome | 19329560 | CNVD |
Autism | 17999366 | CNVD |
Autism | 17901113 | CNVD |
Neurodevelopmental disorder | 17015230 | CNVD |
Autism | 18414403 | CNVD |
Neurocytoma | 17123091 | CNVD |
Mental retardation | 18923513 | CNVD |
Colorectal cancer | 16774939 | CNVD |
Gastric cancer | 17167181 | CNVD |
Neuroblastoma | 19435921 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
Multiple myeloma | 17077331 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Gastrointestinal stromal cancer | 20470368 | CNVD |
Multiple myeloma | 17550852 | CNVD |
Gastrointestinal stromal cancer | 20818650 | CNVD |
Intellectual disability | 22102821 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Breast cancer | 21509527 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Oral squamous cell carcinoma | 17134496 | CNVD |
Breast cancer | 17133270 | CNVD |
Prostate cancer | 16573809 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Multiple myeloma | 20724749 | CNVD |
Lung cancer | 18438408 | CNVD |
Breast cancer | 21858162 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Breast cancer | 21785460 | CNVD |
Prostate cancer | 18632612 | CNVD |
Angelman syndrome | 18787571 | CNVD |
Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
Abnormal corpus callosum | 21572526 | CNVD |
idiopathic generalized epilepsy | 19843651 | CNVD |
Autism | 20531469 | CNVD |
Neuropsychiatric disorder | 20506139 | CNVD |
Austim spectrum disorder | 21302340 | CNVD |
Gastrointestinal stromal cancer | 16982739 | CNVD |
Autism | 19204725 | CNVD |
Schizophrenia | 19204725 | CNVD |
Schizophrenia | 19149910 | CNVD |
Schizophrenia | 20967226 | CNVD |
Non-syndromic sensorineural hearing loss | 18496225 | CNVD |
Autism | 22543975 | CNVD |
Epilepsy | 22499536 | CNVD |
Schizophrenia | 22499536 | CNVD |
Schizophrenia | 18923514 | CNVD |
Bipolar disorder | 19114987 | CNVD |
Schizophrenia | 20587603 | CNVD |
Schizophrenia | 22958593 | CNVD |
Schizophrenia | 21285140 | CNVD |
Schizophrenia | 20553308 | CNVD |
Schizophrenia | 21956041 | CNVD |
Schizophrenia | 20970697 | CNVD |
Mental retardation | 19951919 | CNVD |
Mental retardation | 21956041 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Mental retardation | 21062444 | CNVD |
Autism | 21269290 | CNVD |
Intellectual disability | 21269290 | CNVD |
Schizophrenia | 21269290 | CNVD |
Colorectal cancer | 21128281 | CNVD |
Epilepsy | 19289393 | CNVD |
Epilepsy | 20643615 | CNVD |
Mental retardation | 19289393 | CNVD |
Mental retardation | 20152051 | CNVD |
Schizophrenia | 19289393 | CNVD |
dysmorphic features | 19289393 | CNVD |
idiopathic epilepsies | 19341504 | CNVD |
idiopathic generalized epilepsy | 19592580 | CNVD |
idiopathic generalized epilepsy | 19136953 | CNVD |
Autism | 22094647 | CNVD |
Developmental delay | 19898479 | CNVD |
Mental retardation | 18278044 | CNVD |
Mental retardation | 19898479 | CNVD |
Prader-willi syndrome | 18854863 | CNVD |
Schizophrenia | 19855392 | CNVD |
Ovarian cancer | 22174824 | CNVD |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
Cancer | 20164919 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Epilepsy | 20502679 | CNVD |
Non-syndromic sensorineural hearing loss | 21030649 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
Intellectual disability | 21811512 | CNVD |
Glioma | 20126413 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr15:30357400-30364000 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
2 | chr15:30358200-30367200 | Weak transcription | Brain Anterior Caudate | brain |
3 | chr15:30360400-30364800 | Weak transcription | HSMMtube | muscle |
4 | chr15:30361200-30364000 | Weak transcription | HSMM | muscle |
5 | chr15:30361600-30362600 | Weak transcription | Foreskin Keratinocyte Primary Cells skin02 | Skin |
6 | chr15:30362800-30364800 | Weak transcription | Brain Cingulate Gyrus | brain |
7 | chr15:30364000-30364200 | Enhancers | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
8 | chr15:30364000-30364200 | Enhancers | HSMM | muscle |
9 | chr15:30364200-30364600 | Weak transcription | HSMM | muscle |
10 | chr15:30364600-30365400 | Enhancers | HSMM | muscle |
11 | chr15:30364800-30365000 | Enhancers | Brain Cingulate Gyrus | brain |
12 | chr15:30364800-30365400 | Enhancers | A549 | lung |
13 | chr15:30364800-30365400 | Enhancers | HSMMtube | muscle |
14 | chr15:30365000-30366800 | Weak transcription | Brain Cingulate Gyrus | brain |
15 | chr15:30365400-30365600 | Enhancers | Liver | Liver |
16 | chr15:30365400-30366600 | Enhancers | Breast Myoepithelial Primary Cells | Breast |
17 | chr15:30365400-30366800 | Enhancers | HMEC | breast |
18 | chr15:30365400-30367200 | Weak transcription | A549 | lung |
19 | chr15:30365400-30367200 | Weak transcription | HSMM | muscle |
20 | chr15:30365400-30367200 | Weak transcription | HSMMtube | muscle |
21 | chr15:30365600-30367200 | Weak transcription | Liver | Liver |
22 | chr15:30365600-30367400 | Enhancers | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
23 | chr15:30365800-30367400 | Enhancers | Foreskin Keratinocyte Primary Cells skin02 | Skin |
24 | chr15:30366200-30366800 | Enhancers | Foreskin Keratinocyte Primary Cells skin03 | Skin |
25 | chr15:30366600-30367600 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
26 | chr15:30366600-30367600 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
27 | chr15:30366800-30367600 | Enhancers | Brain Hippocampus Middle | brain |
28 | chr15:30366800-30367800 | Enhancers | Brain Cingulate Gyrus | brain |
29 | chr15:30367200-30367600 | Enhancers | ES-WA7 Cell Line | embryonic stem cell |
30 | chr15:30367200-30367600 | Enhancers | HUES6 Cell Line | embryonic stem cell |
31 | chr15:30367200-30367600 | Enhancers | Muscle Satellite Cultured Cells | -- |
32 | chr15:30367200-30367600 | Enhancers | Liver | Liver |
33 | chr15:30367200-30367600 | Enhancers | Brain Angular Gyrus | brain |
34 | chr15:30367200-30367600 | Flanking Active TSS | Brain Anterior Caudate | brain |
35 | chr15:30367200-30367600 | Enhancers | Brain Inferior Temporal Lobe | brain |
36 | chr15:30367200-30367600 | Enhancers | Fetal Adrenal Gland | Adrenal Gland |
37 | chr15:30367200-30367600 | Enhancers | A549 | lung |
38 | chr15:30367200-30367600 | Enhancers | HSMM | muscle |
39 | chr15:30367200-30367600 | Enhancers | HSMMtube | muscle |
40 | chr15:30367200-30368000 | Enhancers | Brain Dorsolateral Prefrontal Cortex | brain |
41 | chr15:30367200-30368000 | Enhancers | Brain Substantia Nigra | brain |
42 | chr15:30367400-30367600 | Enhancers | Foreskin Keratinocyte Primary Cells skin03 | Skin |
43 | chr15:30367400-30367600 | Enhancers | Fetal Heart | heart |
44 | chr15:30367400-30367800 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Female | -- |
45 | chr15:30367400-30368000 | Enhancers | Fetal Brain Male | brain |
46 | chr15:30367600-30371000 | Weak transcription | HSMMtube | muscle |
47 | chr15:30367600-30372600 | Weak transcription | HSMM | muscle |
48 | chr15:30368400-30368600 | Enhancers | HMEC | breast |
49 | chr15:30372600-30372800 | Enhancers | Foreskin Fibroblast Primary Cells skin01 | Skin |
50 | chr15:30372600-30373000 | Enhancers | HSMM | muscle |