Variant report
| Variant | nsv549463 |
|---|---|
| Chromosome Location | chr1:242265419-242856854 |
| allele | n/a |
| Outlinks | Ensembl   UCSC |
- TF binding region (count:2889)
- CpG islands (count:1769)
- Chromatin interactive region (count:71)
- LncRNA region (count:35)
- 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 | chr1:242588617-242588811 | HepG2 | liver: | n/a | n/a |
| 2 | ARID3A | chr1:242374596-242374843 | HepG2 | liver: | n/a | n/a |
| 3 | ATF1 | chr1:242446572-242446576 | K562 | blood: | n/a | n/a |
| 4 | ATF1 | chr1:242287641-242287643 | K562 | blood: | n/a | n/a |
| 5 | ATF1 | chr1:242292439-242292709 | K562 | blood: | n/a | n/a |
| 6 | ATF2 | chr1:242349067-242349387 | GM12878 | blood: | n/a | n/a |
| 7 | ATF2 | chr1:242749196-242749772 | H1-hESC | embryonic stem cell: | n/a | n/a |
| 8 | ATF2 | chr1:242388576-242389413 | GM12878 | blood: | n/a | n/a |
| 9 | ATF2 | chr1:242343090-242343519 | GM12878 | blood: | n/a | n/a |
| 10 | ATF2 | chr1:242388834-242389344 | GM12878 | blood: | n/a | n/a |
| 11 | ATF2 | chr1:242292342-242292767 | H1-hESC | embryonic stem cell: | n/a | n/a |
| 12 | ATF2 | chr1:242292396-242292783 | H1-hESC | embryonic stem cell: | n/a | n/a |
| 13 | ATF3 | chr1:242388796-242389447 | A549 | lung: | n/a | n/a |
| 14 | ATF3 | chr1:242388881-242389752 | A549 | lung: | n/a | n/a |
| 15 | BACH1 | chr1:242284461-242284512 | K562 | blood: | n/a | n/a |
| 16 | BACH1 | chr1:242310477-242310677 | H1-hESC | embryonic stem cell: | n/a | n/a |
| 17 | BACH1 | chr1:242765415-242765554 | H1-hESC | embryonic stem cell: | n/a | n/a |
| 18 | BACH1 | chr1:242686703-242687743 | H1-hESC | embryonic stem cell: | n/a | n/a |
| 19 | BACH1 | chr1:242848092-242848258 | K562 | blood: | n/a | n/a |
| 20 | BACH1 | chr1:242618940-242618963 | K562 | blood: | n/a | n/a |
| 21 | BACH1 | chr1:242359546-242359693 | H1-hESC | embryonic stem cell: | n/a | n/a |
| 22 | BACH1 | chr1:242802067-242802078 | H1-hESC | embryonic stem cell: | n/a | n/a |
| 23 | BATF | chr1:242321944-242322206 | GM12878 | blood: | n/a | chr1:242322107-242322118 |
| 24 | BATF | chr1:242588702-242588830 | GM12878 | blood: | n/a | n/a |
| 25 | BATF | chr1:242512997-242513219 | GM12878 | blood: | n/a | n/a |
| 26 | BATF | chr1:242388659-242388935 | GM12878 | blood: | n/a | n/a |
| 27 | BATF | chr1:242349079-242349337 | GM12878 | blood: | n/a | n/a |
| 28 | BATF | chr1:242404324-242404602 | GM12878 | blood: | n/a | n/a |
| 29 | BATF | chr1:242349064-242349300 | GM12878 | blood: | n/a | n/a |
| 30 | BATF | chr1:242406021-242406263 | GM12878 | blood: | n/a | n/a |
| 31 | BATF | chr1:242343107-242343366 | GM12878 | blood: | n/a | n/a |
| 32 | BATF | chr1:242343038-242343433 | GM12878 | blood: | n/a | n/a |
| 33 | BATF | chr1:242388281-242389342 | GM12878 | blood: | n/a | n/a |
| 34 | BCL11A | chr1:242343069-242343372 | GM12878 | blood: | n/a | n/a |
| 35 | BCL11A | chr1:242342269-242342637 | H1-hESC | embryonic stem cell: | n/a | n/a |
| 36 | BCL11A | chr1:242388333-242389298 | GM12878 | blood: | n/a | n/a |
| 37 | BCL11A | chr1:242342327-242342487 | H1-hESC | embryonic stem cell: | n/a | n/a |
| 38 | BCL11A | chr1:242749309-242749565 | H1-hESC | embryonic stem cell: | n/a | n/a |
| 39 | BCL11A | chr1:242349063-242349337 | GM12878 | blood: | n/a | n/a |
| 40 | BCL3 | chr1:242402519-242403128 | A549 | lung: | n/a | n/a |
| 41 | BCL3 | chr1:242843343-242843676 | GM12878 | blood: | n/a | n/a |
| 42 | BCL3 | chr1:242349075-242349372 | GM12878 | blood: | n/a | n/a |
| 43 | BCL3 | chr1:242843399-242843681 | GM12878 | blood: | n/a | n/a |
| 44 | BCL3 | chr1:242403292-242403905 | A549 | lung: | n/a | n/a |
| 45 | BCL3 | chr1:242349126-242349356 | GM12878 | blood: | n/a | n/a |
| 46 | BCL3 | chr1:242382595-242383234 | A549 | lung: | n/a | n/a |
| 47 | BCL3 | chr1:242388790-242389876 | A549 | lung: | n/a | n/a |
| 48 | BCL3 | chr1:242388773-242389831 | A549 | lung: | n/a | n/a |
| 49 | BCL3 | chr1:242400192-242400753 | A549 | lung: | n/a | n/a |
| 50 | BCLAF1 | chr1:242343127-242343435 | GM12878 | blood: | n/a | n/a |
| No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr1:242612787-242612837 | AG09319 | gingival: | n/a |
| 2 | chr1:242690593-242690643 | HUVEC | blood vessel: | n/a |
| 3 | chr1:242653362-242653412 | HAEpiC | amniotic membrane: | n/a |
| 4 | chr1:242690593-242690643 | LNCaP | prostate: | n/a |
| 5 | chr1:242688681-242688731 | PrEC | prostate: | n/a |
| 6 | chr1:242612787-242612837 | GM06990 | blood: | n/a |
| 7 | chr1:242687412-242687462 | HCM | heart: | n/a |
| 8 | chr1:242407965-242408015 | SAEC | small airway: | n/a |
| 9 | chr1:242349206-242349256 | H1-hESC | embryonic stem cell: | embryo |
| 10 | chr1:242653362-242653412 | LNCaP | prostate: | n/a |
| 11 | chr1:242767942-242767992 | GM12892 | blood: | n/a |
| 12 | chr1:242611826-242611876 | ProgFib | skin: | n/a |
| 13 | chr1:242612787-242612837 | HEEpiC | esophagus: | n/a |
| 14 | chr1:242688320-242688370 | RPTEC | kidney: | n/a |
| 15 | chr1:242653362-242653412 | NHBE | bronchial: | n/a |
| 16 | chr1:242688144-242688194 | HRE | kidney: | n/a |
| 17 | chr1:242611826-242611876 | AG04450 | lung: | fetal |
| 18 | chr1:242407965-242408015 | HepG2 | liver: | n/a |
| 19 | chr1:242613203-242613253 | PFSK-1 | brain: | n/a |
| 20 | chr1:242310145-242310195 | T-47D | breast: | n/a |
| 21 | chr1:242690593-242690643 | IMR90 | lung: | fetal |
| 22 | chr1:242688681-242688731 | Hela-S3 | cervix: | n/a |
| 23 | chr1:242688226-242688276 | A549 | lung: | n/a |
| 24 | chr1:242687018-242687068 | K562 | blood: | n/a |
| 25 | chr1:242407965-242408015 | SK-N-SH | brain: | n/a |
| 26 | chr1:242687412-242687462 | BJ | skin: | n/a |
| 27 | chr1:242688081-242688131 | SK-N-SH | brain: | n/a |
| 28 | chr1:242612849-242612899 | SK-N-SH | brain: | n/a |
| 29 | chr1:242611826-242611876 | SAEC | small airway: | n/a |
| 30 | chr1:242767942-242767992 | HRCEpiC | kidney: | n/a |
| 31 | chr1:242687412-242687462 | HUVEC | blood vessel: | n/a |
| 32 | chr1:242605061-242605111 | MCF10A-Er-Src | breast: | n/a |
| 33 | chr1:242612787-242612837 | HRE | kidney: | n/a |
| 34 | chr1:242612849-242612899 | HNPCEpiC | eye: | n/a |
| 35 | chr1:242688081-242688131 | HCM | heart: | n/a |
| 36 | chr1:242749065-242749115 | GM12892 | blood: | n/a |
| 37 | chr1:242687465-242687515 | SK-N-SH_RA | brain: | n/a |
| 38 | chr1:242683142-242683192 | MCF-7 | breast: | n/a |
| 39 | chr1:242613245-242613295 | HCT-116 | colon: | n/a |
| 40 | chr1:242688591-242688641 | NB4 | blood: | n/a |
| 41 | chr1:242688523-242688573 | PANC-1 | pancreas: | n/a |
| 42 | chr1:242687465-242687515 | GM12891 | blood: | n/a |
| 43 | chr1:242688591-242688641 | NHBE | bronchial: | n/a |
| 44 | chr1:242612849-242612899 | AoSMC | blood vessel: | n/a |
| 45 | chr1:242767942-242767992 | GM19239 | blood: | n/a |
| 46 | chr1:242687412-242687462 | NH-A | brain: | n/a |
| 47 | chr1:242407965-242408015 | T-47D | breast: | n/a |
| 48 | chr1:242613245-242613295 | NB4 | blood: | n/a |
| 49 | chr1:242613203-242613253 | GM19239 | blood: | n/a |
| 50 | chr1:242686709-242686759 | HAEpiC | amniotic membrane: | n/a |
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr1:242595852..242597675-chr1:242599631..242602192,2 | MCF-7 | breast: | |
| 2 | chr1:242595107..242597872-chr1:242601027..242602558,2 | K562 | blood: | |
| 3 | chr1:242731452..242733233-chr1:242737501..242739906,2 | K562 | blood: | |
| 4 | chr1:242579229..242580899-chr1:242592362..242595019,2 | K562 | blood: | |
| 5 | chr1:242391078..242393994-chr1:242400532..242402994,2 | MCF-7 | breast: | |
| 6 | chr1:242579229..242580899-chr1:242592362..242595019,2 | K562 | blood: | |
| 7 | chr1:242286191..242288047-chr1:242289637..242292045,2 | MCF-7 | breast: | |
| 8 | chr1:242532755..242535089-chr1:242538620..242540939,2 | MCF-7 | breast: | |
| 9 | chr1:242334854..242337802-chr1:242340893..242343109,2 | MCF-7 | breast: | |
| 10 | chr1:242268225..242271086-chr1:242271421..242274837,3 | MCF-7 | breast: | |
| 11 | chr1:242286191..242288047-chr1:242289637..242292045,2 | MCF-7 | breast: | |
| 12 | chr1:242261952..242263641-chr1:242265289..242267747,2 | K562 | blood: | |
| 13 | chr1:242363202..242365570-chr1:242368002..242370016,2 | K562 | blood: | |
| 14 | chr1:242387764..242390407-chr1:242402354..242404271,2 | MCF-7 | breast: | |
| 15 | chr1:242690016..242691872-chr1:242693633..242696620,2 | K562 | blood: | |
| 16 | chr1:242536607..242538996-chr1:242545702..242547462,2 | MCF-7 | breast: | |
| 17 | chr1:242183008..242183632-chr1:242588513..242589035,2 | MCF-7 | breast: | |
| 18 | chr1:242292163..242292685-chr1:242427746..242428399,2 | MCF-7 | breast: | |
| 19 | chr1:242590294..242592687-chr1:242593690..242595305,2 | K562 | blood: | |
| 20 | chr1:242626775..242629510-chr1:242632318..242634678,2 | K562 | blood: | |
| 21 | chr1:242616929..242619643-chr1:242629672..242631653,2 | K562 | blood: | |
| 22 | chr1:242388720..242391190-chr1:242392275..242394962,3 | MCF-7 | breast: | |
| 23 | chr1:242595107..242597872-chr1:242601027..242602558,2 | K562 | blood: | |
| 24 | chr1:242274001..242276475-chr1:242276538..242279195,3 | MCF-7 | breast: | |
| 25 | chr1:242576728..242577460-chr2:3592302..3593192,2 | MCF-7 | breast: | |
| 26 | chr1:242389704..242391777-chr1:242398206..242400493,2 | MCF-7 | breast: | |
| 27 | chr1:242687461..242689938-chr1:242691020..242693615,2 | K562 | blood: | |
| 28 | chr1:242274001..242276475-chr1:242276538..242279195,3 | MCF-7 | breast: | |
| 29 | chr1:242680127..242681627-chr2:114917951..114919998,2 | K562 | blood: | |
| 30 | chr1:242248261..242249840-chr1:242272040..242274388,2 | K562 | blood: | |
| 31 | chr1:242617838..242618342-chr1:242955947..242956813,2 | MCF-7 | breast: | |
| 32 | chr1:242389704..242391777-chr1:242398206..242400493,2 | MCF-7 | breast: | |
| 33 | chr1:242616929..242619643-chr1:242629672..242631653,2 | K562 | blood: | |
| 34 | chr1:242725284..242727359-chr1:242740097..242742633,2 | K562 | blood: | |
| 35 | chr1:242630619..242631512-chr1:244436093..244436950,3 | MCF-7 | breast: | |
| 36 | chr1:242286116..242287870-chr1:242290000..242292729,2 | K562 | blood: | |
| 37 | chr1:242391078..242393994-chr1:242400532..242402994,2 | MCF-7 | breast: | |
| 38 | chr1:242626775..242629510-chr1:242632318..242634678,2 | K562 | blood: | |
| 39 | chr1:242387764..242390407-chr1:242402354..242404271,2 | MCF-7 | breast: | |
| 40 | chr1:242386329..242394751-chr1:242400505..242406264,14 | MCF-7 | breast: | |
| 41 | chr1:242353836..242355949-chr1:242363634..242366630,2 | K562 | blood: | |
| 42 | chr1:242182892..242183793-chr1:242638283..242638859,2 | MCF-7 | breast: | |
| 43 | chr1:242292163..242292685-chr1:242427746..242428399,2 | MCF-7 | breast: | |
| 44 | chr1:242687074..242690257-chr1:242691020..242695095,4 | K562 | blood: | |
| 45 | chr1:242268225..242271086-chr1:242271421..242274837,3 | MCF-7 | breast: | |
| 46 | chr1:242590294..242592687-chr1:242593690..242595305,2 | K562 | blood: | |
| 47 | chr1:242731452..242733233-chr1:242737501..242739906,2 | K562 | blood: | |
| 48 | chr1:242617811..242618559-chr1:242630673..242631426,2 | MCF-7 | breast: | |
| 49 | chr1:242690016..242691872-chr1:242693633..242696620,2 | K562 | blood: | |
| 50 | chr1:242536607..242538996-chr1:242545702..242547462,2 | MCF-7 | breast: |
(count:35 , 50 per page) page:
1
| No. | lncRNA name | Chromosome Location | lncRNA alias |
|---|---|---|---|
| 1 | lnc-MAP1LC3C-3 | chr1:242652877-242653660 | NONHSAT010568 |
| 2 | lnc-PLD5-2 | chr1:242717038-242717147 | XLOC_001281 |
| 3 | lnc-MAP1LC3C-3 | chr1:242654490-242654577 | NONHSAT010568 |
| 4 | lnc-PLD5-2 | chr1:242717724-242718022 | XLOC_001281 |
| 5 | lnc-EXO1-8 | chr1:242273348-242273474 | ucscGeneNc_uc001iac_2 |
| 6 | lnc-MAP1LC3C-4 | chr1:242654836-242655140 | expReg_chr1_22645_- |
| 7 | lnc-EXO1-2 | chr1:242372565-242372637 | ENSG00000224525.1 |
| 8 | lnc-MAP1LC3C-1 | chr1:242366857-242367045 | ENSG00000232689.1 |
| 9 | lnc-EXO1-8 | chr1:242271352-242271480 | ucscGeneNc_uc001iac_2 |
| 10 | lnc-SDCCAG8-4 | chr1:242834442-242834878 | NONHSAT010573 |
| 11 | lnc-EXO1-10 | chr1:242341031-242341205 | ENSG00000272865.1 |
| 12 | lnc-EXO1-2 | chr1:242373671-242374129 | ENSG00000224525.1 |
| 13 | lnc-EXO1-8 | chr1:242273348-242273474 | NONHSAT010559 |
| 14 | lnc-EXO1-10 | chr1:242341597-242341667 | ENSG00000272865.1 |
| 15 | lnc-EXO1-8 | chr1:242275153-242275216 | NONHSAT010559 |
| 16 | lnc-EXO1-8 | chr1:242276817-242277242 | NONHSAT010559 |
| 17 | lnc-MAP1LC3C-7 | chr1:242681118-242681325 | expReg_chr1_22661_- |
| 18 | lnc-PLD5-1 | chr1:242692647-242692740 | NONHSAT010569 |
| 19 | lnc-EXO1-10 | chr1:242310816-242310856 | ENSG00000272865.1 |
| 20 | lnc-MAP1LC3C-1 | chr1:242373671-242373825 | ENSG00000232689.1 |
| 21 | lnc-EXO1-10 | chr1:242355457-242355606 | ENSG00000272865.1 |
| 22 | lnc-MAP1LC3C-6 | chr1:242680432-242680918 | expReg_chr1_22659_- |
| 23 | lnc-PLD5-1 | chr1:242693049-242693341 | NONHSAT010569 |
| 24 | lnc-EXO1-9 | chr1:242337290-242337520 | NONHSAT010562 |
| 25 | lnc-EXO1-2 | chr1:242372520-242372637 | ENSG00000224525.2 |
| 26 | lnc-EXO1-8 | chr1:242271352-242271480 | NONHSAT010559 |
| 27 | lnc-MAP1LC3C-5 | chr1:242676012-242676332 | expReg_chr1_22653_- |
| 28 | lnc-EXO1-9 | chr1:242338601-242338936 | NONHSAT010562 |
| 29 | lnc-EXO1-2 | chr1:242373671-242374129 | ENSG00000224525.2 |
| 30 | lnc-MAP1LC3C-1 | chr1:242372520-242372637 | ENSG00000232689.1 |
| 31 | lnc-EXO1-8 | chr1:242276817-242277240 | ucscGeneNc_uc001iac_2 |
| 32 | lnc-EXO1-2 | chr1:242366857-242367045 | ENSG00000224525.2 |
| 33 | lnc-EXO1-8 | chr1:242275153-242275216 | ucscGeneNc_uc001iac_2 |
| 34 | lnc-EXO1-10 | chr1:242372394-242372431 | ENSG00000272865.1 |
| 35 | lnc-PLD5-1 | chr1:242690923-242691021 | NONHSAT010569 |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000270859 | TF binding region |
| ENSG00000235467 | TF binding region |
| RN7SKP12 | TF binding region |
| PLD5 | TF binding region |
| RNA5SP81 | TF binding region |
| ENSG00000213690 | TF binding region |
| ENSG00000226750 | TF binding region |
| ENSG00000224525 | TF binding region |
| ENSG00000272865 | TF binding region |
| ENSG00000270859 | CpG island |
| ENSG00000235467 | CpG island |
| RN7SKP12 | CpG island |
| PLD5 | CpG island |
| RNA5SP81 | CpG island |
| ENSG00000213690 | CpG island |
| ENSG00000226750 | CpG island |
| ENSG00000224525 | CpG island |
| ENSG00000272865 | CpG island |
| ENSG00000213690 | chromatin interactions |
| ENSG00000090266 | chromatin interactions |
| ENSG00000180287 | chromatin interactions |
| ENSG00000212195 | chromatin interactions |
| ENSG00000252084 | chromatin interactions |
| ENSG00000124225 | chromatin interactions |
| ENSG00000240889 | chromatin interactions |
| DACT1 | miRNA target sites |
| DAB2IP | miRNA target sites |
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs12129551 | chr1:242265419-242265420 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 2 | rs374937201 | chr1:242265459-242265460 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs186178344 | chr1:242265482-242265483 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs561906882 | chr1:242265503-242265504 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs28595477 | chr1:242265536-242265537 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs117353956 | chr1:242265604-242265605 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs192510307 | chr1:242265717-242265718 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs531289035 | chr1:242265777-242265778 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs372930792 | chr1:242265778-242265779 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs367793544 | chr1:242265782-242265783 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs533321978 | chr1:242265879-242265880 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs373463721 | chr1:242265890-242265891 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs550451769 | chr1:242265948-242265949 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs116431166 | chr1:242265961-242265962 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs377690800 | chr1:242265966-242265967 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs549345305 | chr1:242265986-242265987 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs117748102 | chr1:242266013-242266014 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs182546553 | chr1:242266058-242266059 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs376835314 | chr1:242266059-242266060 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs553411360 | chr1:242266064-242266065 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs576434308 | chr1:242266065-242266066 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs539110713 | chr1:242266107-242266108 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs200736509 | chr1:242266152-242266153 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs556118130 | chr1:242266194-242266195 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs576295350 | chr1:242266227-242266228 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs35062745 | chr1:242266240-242266241 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs141768876 | chr1:242266242-242266243 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs542088453 | chr1:242266297-242266298 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs556476148 | chr1:242266318-242266319 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs72761219 | chr1:242266360-242266361 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs572233336 | chr1:242266367-242266368 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs187727555 | chr1:242266430-242266431 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs2164422 | chr1:242266434-242266435 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 34 | rs559974103 | chr1:242266479-242266480 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs150516691 | chr1:242266494-242266495 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs112636448 | chr1:242266509-242266510 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs149281487 | chr1:242266536-242266537 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs565315689 | chr1:242266545-242266546 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs77419344 | chr1:242266565-242266566 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs3948294 | chr1:242266576-242266577 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs147367388 | chr1:242266578-242266579 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs565942663 | chr1:242266649-242266650 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs374872549 | chr1:242266712-242266713 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs528616187 | chr1:242266721-242266722 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs76445813 | chr1:242266725-242266726 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs573563756 | chr1:242266747-242266748 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs570255610 | chr1:242266781-242266782 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs539506002 | chr1:242266811-242266812 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs192332621 | chr1:242266821-242266822 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs139663799 | chr1:242266846-242266847 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| Disease | PMID | Source |
|---|---|---|
| Esophageal squamous carcinoma | 21637470 | CNVD |
| HIV/AIDS | 22032296 | CNVD |
| Schizophrenia | 19415332 | CNVD |
| Melanoma | 18172304 | CNVD |
| Rett syndrome | 21593744 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Cancer | 20164919 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Non-small cell lung cancer | 21044232 | CNVD |
| Cervical cancer | 21063398 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Breast cancer | 20632083 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Gastrointestinal stromal cancer | 20470368 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Hepatocellular carcinoma | 22174799 | CNVD |
| Medulloblastoma | 21292688 | CNVD |
| Phyllodes tumor | 17334353 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Multiple myeloma | 21628407 | CNVD |
| Cancer | 16751803 | CNVD |
| Prostate cancer | 16705090 | CNVD |
| Neuroblastoma | 19435921 | CNVD |
| Breast cancer | 17850661 | CNVD |
| Breast cancer | 16461572 | CNVD |
| Intracranial tumor | 16823260 | CNVD |
| Medulloblastoma | 18056178 | CNVD |
| Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
| Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Neuroblastoma | 21899760 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Acute lymphoblastic leukemia | 21980252 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Ewing''s sarcoma | 22429812 | CNVD |
| Acute promyelocytic leukemia | 19109227 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Breast cancer | 17001317 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Testicular germ cell tumor | 18059402 | CNVD |
| Ependymoma | 18628472 | CNVD |
| Leukemia | 18628472 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Acute lymphoblastic leukemia | 19100363 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Chordoma | 18071362 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Hepatocellular carcinoma | 18803288 | CNVD |
| Urothelial tumor | 18831757 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Medulloblastoma | 16783165 | CNVD |
| Basal cell lymphoma | 17170743 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Congenital abnormalities | 21549014 | CNVD |
| Developmental delay | 21549014 | CNVD |
| Mental retardation | 21549014 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Cancer | 20164920 | CNVD |
| Cancer | 17060936 | CNVD |
| abnormal development | 18461090 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Non-small cell lung cancer | 21829676 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Arrhythmogenic right ventricular cardiomyopathy | 17576883 | CNVD |
| Multiple myeloma | 16616336 | CNVD |
| Developmental delay | 21147756 | CNVD |
| Ovarian cancer | 21720365 | CNVD |
| Glioblastoma multiforme | 22291905 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Disease | 21936942 | CNVD |
| laryngomalacia | 21936942 | CNVD |
| GLUT3 deficiency syndrome | 20509907 | CNVD |
| Developmental delay | 21373258 | CNVD |
| Acute lymphoblastic leukemia | 17443227 | CNVD |
| Developmental delay | 19490664 | CNVD |
| Acute lymphoblastic leukemia | 21098271 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Lung adenocarcinoma | 21935476 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
| Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
| Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
| Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr1:242254000-242282200 | Weak transcription | Brain Hippocampus Middle | brain |
| 2 | chr1:242259000-242266800 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 3 | chr1:242264000-242269600 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
| 4 | chr1:242264000-242269600 | Weak transcription | Foreskin Keratinocyte Primary Cells skin03 | Skin |
| 5 | chr1:242264000-242269600 | Weak transcription | Aorta | Aorta |
| 6 | chr1:242264800-242270000 | Weak transcription | Ganglion Eminence derived primary cultured neurospheres | brain |
| 7 | chr1:242266800-242270200 | Strong transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 8 | chr1:242268200-242271600 | Weak transcription | Fetal Adrenal Gland | Adrenal Gland |
| 9 | chr1:242269400-242270200 | Weak transcription | Foreskin Keratinocyte Primary Cells skin02 | Skin |
| 10 | chr1:242269600-242270600 | Strong transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
| 11 | chr1:242269600-242270600 | ZNF genes & repeats | Aorta | Aorta |
| 12 | chr1:242269600-242271000 | Strong transcription | Foreskin Keratinocyte Primary Cells skin03 | Skin |
| 13 | chr1:242270000-242270400 | Strong transcription | Ganglion Eminence derived primary cultured neurospheres | brain |
| 14 | chr1:242270200-242271600 | Strong transcription | Foreskin Keratinocyte Primary Cells skin02 | Skin |
| 15 | chr1:242270200-242281400 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 16 | chr1:242270400-242281400 | Weak transcription | Ganglion Eminence derived primary cultured neurospheres | brain |
| 17 | chr1:242270600-242277000 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
| 18 | chr1:242270600-242286600 | Weak transcription | Aorta | Aorta |
| 19 | chr1:242271000-242276600 | Weak transcription | Foreskin Keratinocyte Primary Cells skin03 | Skin |
| 20 | chr1:242271600-242272000 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
| 21 | chr1:242271600-242272400 | Enhancers | iPS DF 6.9 Cell Line | embryonic stem cell |
| 22 | chr1:242271600-242272400 | Enhancers | Fetal Adrenal Gland | Adrenal Gland |
| 23 | chr1:242271600-242287600 | Weak transcription | Foreskin Keratinocyte Primary Cells skin02 | Skin |
| 24 | chr1:242274800-242278000 | Weak transcription | Breast Myoepithelial Primary Cells | Breast |
| 25 | chr1:242276600-242277400 | Strong transcription | Foreskin Keratinocyte Primary Cells skin03 | Skin |
| 26 | chr1:242277000-242277200 | ZNF genes & repeats | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
| 27 | chr1:242277200-242279000 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
| 28 | chr1:242277400-242286800 | Weak transcription | Foreskin Keratinocyte Primary Cells skin03 | Skin |
| 29 | chr1:242281400-242282200 | Strong transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 30 | chr1:242281400-242282400 | Enhancers | Ganglion Eminence derived primary cultured neurospheres | brain |
| 31 | chr1:242281400-242283200 | Enhancers | Cortex derived primary cultured neurospheres | brain |
| 32 | chr1:242282200-242282400 | Enhancers | Brain Hippocampus Middle | brain |
| 33 | chr1:242282200-242298600 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 34 | chr1:242285000-242289800 | Weak transcription | HMEC | breast |
| 35 | chr1:242286600-242287400 | Strong transcription | Aorta | Aorta |
| 36 | chr1:242286800-242287800 | Strong transcription | Foreskin Keratinocyte Primary Cells skin03 | Skin |
| 37 | chr1:242287200-242288400 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
| 38 | chr1:242287400-242288800 | Weak transcription | Aorta | Aorta |
| 39 | chr1:242287800-242289400 | Weak transcription | Foreskin Keratinocyte Primary Cells skin03 | Skin |
| 40 | chr1:242291600-242292000 | Enhancers | Brain Angular Gyrus | brain |
| 41 | chr1:242292000-242292400 | Weak transcription | Brain Angular Gyrus | brain |
| 42 | chr1:242292200-242292600 | Enhancers | Foreskin Melanocyte Primary Cells skin01 | Skin |
| 43 | chr1:242292400-242292600 | Enhancers | Brain Angular Gyrus | brain |
| 44 | chr1:242292600-242295800 | Weak transcription | Brain Angular Gyrus | brain |
| 45 | chr1:242292800-242294400 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
| 46 | chr1:242294400-242295800 | Weak transcription | Foreskin Melanocyte Primary Cells skin03 | Skin |
| 47 | chr1:242295800-242296000 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
| 48 | chr1:242295800-242296200 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
| 49 | chr1:242296000-242296200 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
| 50 | chr1:242296200-242296400 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |






