Variant report
Variant | nsv1002373 |
---|---|
Chromosome Location | chr1:144013582-144682096 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:5887)
- CpG islands (count:2750)
- Chromatin interactive region (count:311)
- LncRNA region (count:188)
- Mature miRNA region (count: 0)
- miRNA target sites (count:3)
No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | ARID3A | chr1:144532762-144534541 | K562 | blood: | n/a | n/a |
2 | ARID3A | chr1:144533334-144534462 | HepG2 | liver: | n/a | n/a |
3 | ARID3A | chr1:144537463-144537485 | K562 | blood: | n/a | n/a |
4 | ARID3A | chr1:144535027-144535473 | K562 | blood: | n/a | n/a |
5 | ARID3A | chr1:144532296-144532499 | K562 | blood: | n/a | n/a |
6 | ARID3A | chr1:144535206-144535581 | HepG2 | liver: | n/a | n/a |
7 | ATF1 | chr1:144536174-144536392 | K562 | blood: | n/a | n/a |
8 | ATF1 | chr1:144528291-144528404 | K562 | blood: | n/a | n/a |
9 | ATF1 | chr1:144539279-144539325 | K562 | blood: | n/a | n/a |
10 | ATF1 | chr1:144535220-144535590 | K562 | blood: | n/a | n/a |
11 | ATF1 | chr1:144531464-144531591 | K562 | blood: | n/a | n/a |
12 | ATF1 | chr1:144533100-144534496 | K562 | blood: | n/a | n/a |
13 | ATF1 | chr1:144532323-144532462 | K562 | blood: | n/a | n/a |
14 | ATF2 | chr1:144533458-144534609 | GM12878 | blood: | n/a | n/a |
15 | ATF2 | chr1:144533212-144534565 | H1-hESC | embryonic stem cell: | n/a | n/a |
16 | ATF2 | chr1:144533459-144534584 | GM12878 | blood: | n/a | n/a |
17 | ATF2 | chr1:144533382-144534573 | H1-hESC | embryonic stem cell: | n/a | n/a |
18 | ATF3 | chr1:144533542-144534429 | K562 | blood: | n/a | chr1:144533784-144533797 chr1:144533946-144533955 chr1:144533783-144533798 |
19 | ATF3 | chr1:144533135-144534621 | A549 | lung: | n/a | chr1:144533784-144533797 chr1:144533946-144533955 chr1:144533783-144533798 |
20 | ATF3 | chr1:144533095-144534612 | K562 | blood: | n/a | chr1:144533784-144533797 chr1:144533946-144533955 chr1:144533783-144533798 |
21 | ATF3 | chr1:144533311-144534469 | A549 | lung: | n/a | chr1:144533784-144533797 chr1:144533946-144533955 chr1:144533783-144533798 |
22 | BACH1 | chr1:144532809-144534499 | H1-hESC | embryonic stem cell: | n/a | n/a |
23 | BACH1 | chr1:144532184-144532396 | K562 | blood: | n/a | n/a |
24 | BACH1 | chr1:144532785-144534560 | K562 | blood: | n/a | n/a |
25 | BACH1 | chr1:144534872-144535121 | K562 | blood: | n/a | n/a |
26 | BATF | chr1:144521633-144522521 | GM12878 | blood: | n/a | n/a |
27 | BATF | chr1:144384899-144385095 | GM12878 | blood: | n/a | n/a |
28 | BATF | chr1:144336769-144337135 | GM12878 | blood: | n/a | n/a |
29 | BATF | chr1:144340377-144340881 | GM12878 | blood: | n/a | n/a |
30 | BATF | chr1:144328809-144329030 | GM12878 | blood: | n/a | n/a |
31 | BATF | chr1:144518142-144518372 | GM12878 | blood: | n/a | n/a |
32 | BATF | chr1:144094860-144095134 | GM12878 | blood: | n/a | n/a |
33 | BATF | chr1:144157512-144157961 | GM12878 | blood: | n/a | chr1:144157741-144157749 |
34 | BATF | chr1:144333140-144333410 | GM12878 | blood: | n/a | n/a |
35 | BATF | chr1:144393767-144394272 | GM12878 | blood: | n/a | chr1:144393981-144393992 chr1:144394139-144394149 |
36 | BATF | chr1:144094411-144095211 | GM12878 | blood: | n/a | chr1:144094595-144094605 |
37 | BATF | chr1:144036890-144037115 | GM12878 | blood: | n/a | n/a |
38 | BATF | chr1:144321363-144321837 | GM12878 | blood: | n/a | n/a |
39 | BATF | chr1:144341526-144342037 | GM12878 | blood: | n/a | n/a |
40 | BATF | chr1:144327210-144327464 | GM12878 | blood: | n/a | n/a |
41 | BATF | chr1:144621396-144621792 | GM12878 | blood: | n/a | n/a |
42 | BATF | chr1:144614537-144614797 | GM12878 | blood: | n/a | n/a |
43 | BATF | chr1:144509060-144509281 | GM12878 | blood: | n/a | n/a |
44 | BATF | chr1:144615010-144615375 | GM12878 | blood: | n/a | n/a |
45 | BATF | chr1:144570308-144570462 | GM12878 | blood: | n/a | n/a |
46 | BATF | chr1:144310931-144311678 | GM12878 | blood: | n/a | n/a |
47 | BATF | chr1:144339194-144339724 | GM12878 | blood: | n/a | n/a |
48 | BATF | chr1:144494382-144494639 | GM12878 | blood: | n/a | n/a |
49 | BATF | chr1:144335102-144335314 | GM12878 | blood: | n/a | n/a |
50 | BATF | chr1:144339109-144341237 | GM12878 | blood: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr1:144596061-144596111 | PANC-1 | pancreas: | n/a |
2 | chr1:144594259-144594309 | BE2_C | brain: | n/a |
3 | chr1:144567670-144567720 | H1-hESC | embryonic stem cell: | embryo |
4 | chr1:144533844-144533894 | ovcar-3 | ovarian: | n/a |
5 | chr1:144533951-144534001 | HCT-116 | colon: | n/a |
6 | chr1:144596061-144596111 | PANC-1 | pancreas: | n/a |
7 | chr1:144594259-144594309 | BE2_C | brain: | n/a |
8 | chr1:144567670-144567720 | H1-hESC | embryonic stem cell: | embryo |
9 | chr1:144533844-144533894 | ovcar-3 | ovarian: | n/a |
10 | chr1:144533951-144534001 | HCT-116 | colon: | n/a |
11 | chr1:144015221-144015271 | BE2_C | brain: | n/a |
12 | chr1:144537544-144537594 | Hepatocyte | liver: | n/a |
13 | chr1:144340103-144340153 | HRPEpiC | eye: | n/a |
14 | chr1:144620428-144620478 | K562 | blood: | n/a |
15 | chr1:144340251-144340301 | ECC-1 | luminal epithelium: | n/a |
16 | chr1:144533951-144534001 | PANC-1 | pancreas: | n/a |
17 | chr1:144593341-144593391 | LNCaP | prostate: | n/a |
18 | chr1:144619354-144619404 | Jurkat | blood: | n/a |
19 | chr1:144520201-144520251 | GM06990 | blood: | n/a |
20 | chr1:144340161-144340211 | AG10803 | skin: | n/a |
21 | chr1:144595718-144595768 | HAEpiC | amniotic membrane: | n/a |
22 | chr1:144481939-144481989 | Hela-S3 | cervix: | n/a |
23 | chr1:144620428-144620478 | ProgFib | skin: | n/a |
24 | chr1:144485590-144485640 | LNCaP | prostate: | n/a |
25 | chr1:144340103-144340153 | AoSMC | blood vessel: | n/a |
26 | chr1:144520156-144520206 | LNCaP | prostate: | n/a |
27 | chr1:144524229-144524279 | SAEC | small airway: | n/a |
28 | chr1:144044138-144044188 | SKMC | muscle: | n/a |
29 | chr1:144537544-144537594 | IMR90 | lung: | fetal |
30 | chr1:144593343-144593393 | HCPEpiC | choroid plexus: | n/a |
31 | chr1:144530736-144530786 | SK-N-SH | brain: | n/a |
32 | chr1:144340103-144340153 | HMEC | breast: | n/a |
33 | chr1:144612646-144612696 | NHBE | bronchial: | n/a |
34 | chr1:144596061-144596111 | AoSMC | blood vessel: | n/a |
35 | chr1:144612358-144612408 | Caco-2 | colon: | n/a |
36 | chr1:144533354-144533404 | PFSK-1 | brain: | n/a |
37 | chr1:144015221-144015271 | Caco-2 | colon: | n/a |
38 | chr1:144340103-144340153 | SK-N-MC | brain: | n/a |
39 | chr1:144340251-144340301 | SKMC | muscle: | n/a |
40 | chr1:144533354-144533404 | Jurkat | blood: | n/a |
41 | chr1:144539026-144539076 | NT2-D1 | testis: | n/a |
42 | chr1:144620428-144620478 | GM12892 | blood: | n/a |
43 | chr1:144612646-144612696 | HepG2 | liver: | n/a |
44 | chr1:144594107-144594157 | HEK293 | kidney: | embryo |
45 | chr1:144533861-144533911 | HEK293 | kidney: | embryo |
46 | chr1:144520156-144520206 | Hepatocyte | liver: | n/a |
47 | chr1:144521228-144521278 | T-47D | breast: | n/a |
48 | chr1:144044138-144044188 | NT2-D1 | testis: | n/a |
49 | chr1:144567670-144567720 | ECC-1 | luminal epithelium: | n/a |
50 | chr1:144485590-144485640 | GM19239 | blood: | n/a |
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr1:144533640..144534222-chr5:180649728..180650375,2 | Hela-S3 | cervix: | |
2 | chr1:144531697..144534436-chr1:149784086..149786783,2 | K562 | blood: | |
3 | chr1:144533567..144534586-chr1:184377390..184378390,5 | HCT-116 | colon: | |
4 | chr1:144533875..144534458-chr16:11835668..11836348,2 | Hela-S3 | cervix: | |
5 | chr1:144532467..144535281-chr5:137799571..137801976,2 | K562 | blood: | |
6 | chr1:144534936..144535880-chr1:145058706..145059612,4 | MCF-7 | breast: | |
7 | chr1:144530904..144535858-chr1:144986921..144991934,7 | K562 | blood: | |
8 | chr1:144533639..144534140-chr19:18132795..18133423,2 | Hela-S3 | cervix: | |
9 | chr1:144525368..144530873-chr1:149201685..149206059,14 | MCF-7 | breast: | |
10 | chr1:144533638..144534730-chr2:88315452..88316503,4 | Hela-S3 | cervix: | |
11 | chr1:144533823..144534453-chr6:71376836..71377641,2 | Hela-S3 | cervix: | |
12 | chr1:144533877..144534615-chr15:65596654..65597253,2 | HCT-116 | colon: | |
13 | chr1:144533945..144534883-chr3:133292589..133293471,2 | Hela-S3 | cervix: | |
14 | chr1:144533783..144534572-chr19:40931457..40932145,2 | HCT-116 | colon: | |
15 | chr1:144547084..144549074-chr2:5776610..5778586,4 | K562 | blood: | |
16 | chr1:17221575..17223414-chr1:144532305..144534142,2 | K562 | blood: | |
17 | chr1:144533618..144534203-chr14:105766994..105767831,2 | Hela-S3 | cervix: | |
18 | chr1:144533872..144534647-chr17:62206901..62207643,2 | Hela-S3 | cervix: | |
19 | chr1:144533852..144534586-chr1:184377390..184378370,3 | Hela-S3 | cervix: | |
20 | chr1:144533848..144534378-chr7:32930449..32931188,2 | HCT-116 | colon: | |
21 | chr1:144533458..144534448-chr1:149194159..149194696,17 | HCT-116 | colon: | |
22 | chr1:144533645..144534350-chr1:149215075..149215829,2 | HCT-116 | colon: | |
23 | chr1:144590246..144591117-chr1:148550866..148551429,2 | MCF-7 | breast: | |
24 | chr1:144533619..144534549-chr2:20101329..20102307,3 | Hela-S3 | cervix: | |
25 | chr1:144533622..144534350-chr12:51476813..51477576,2 | Hela-S3 | cervix: | |
26 | chr1:144533685..144534231-chr15:35261395..35262017,2 | Hela-S3 | cervix: | |
27 | chr1:144533671..144534251-chr12:77157377..77158064,2 | Hela-S3 | cervix: | |
28 | chr1:144519367..144521165-chr1:144533246..144535069,2 | K562 | blood: | |
29 | chr1:144539250..144543417-chr1:149221777..149225328,4 | MCF-7 | breast: | |
30 | chr1:144533744..144537008-chr1:149856854..149861459,6 | K562 | blood: | |
31 | chr1:144533858..144534676-chr5:137800598..137801362,2 | HCT-116 | colon: | |
32 | chr1:144526544..144527133-chr1:149203974..149204478,2 | MCF-7 | breast: | |
33 | chr1:144538364..144541386-chr2:5768666..5771588,4 | MCF-7 | breast: | |
34 | chr1:144532673..144535225-chr1:149604575..149607265,3 | K562 | blood: | |
35 | chr1:144533722..144534489-chr19:37063772..37064389,2 | Hela-S3 | cervix: | |
36 | chr1:144533738..144534494-chr17:61818883..61819501,2 | HCT-116 | colon: | |
37 | chr1:144534120..144534663-chr12:8185207..8185847,2 | Hela-S3 | cervix: | |
38 | chr1:144533809..144534431-chr13:50159258..50160240,2 | Hela-S3 | cervix: | |
39 | chr1:144533574..144534118-chr13:52027490..52028216,2 | Hela-S3 | cervix: | |
40 | chr1:144532574..144534383-chr1:150253333..150256090,2 | K562 | blood: | |
41 | chr1:144534910..144535898-chr2:5765419..5766529,10 | MCF-7 | breast: | |
42 | chr1:144533657..144534477-chr8:141645602..141646120,2 | Hela-S3 | cervix: | |
43 | chr1:144534249..144534860-chr12:57505541..57506097,2 | Hela-S3 | cervix: | |
44 | chr1:144532746..144535679-chr1:148240132..148243070,2 | K562 | blood: | |
45 | chr1:144533778..144534525-chr2:3622183..3623046,2 | Hela-S3 | cervix: | |
46 | chr1:144533737..144534794-chr20:47537863..47538708,3 | Hela-S3 | cervix: | |
47 | chr1:144533626..144534268-chr10:74856178..74856917,2 | Hela-S3 | cervix: | |
48 | chr1:144532529..144536488-chr1:145037438..145042371,7 | K562 | blood: | |
49 | chr1:144534120..144534744-chr11:62648041..62648567,2 | Hela-S3 | cervix: | |
50 | chr1:144534740..144535279-chr2:5765424..5766032,2 | Hela-S3 | cervix: |
No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-AL592284.1-1 | chr1:144615096-144615303 | ENSG00000225241 |
2 | lnc-PPIAL4B-1 | chr1:144340526-144340671 | ENSG00000235398 |
3 | lnc-AL592284.1-1 | chr1:144619883-144620094 | ENSG00000225241 |
4 | lnc-PPIAL4B-2 | chr1:144514874-144519720 | NONHSAT005809 |
5 | lnc-PPIAL4B-1 | chr1:144300515-144301536 | ENSG00000235398 |
6 | lnc-AL592284.1-1 | chr1:144606369-144606562 | NONHSAT005824 |
7 | lnc-PPIAL4B-1 | chr1:144340526-144340623 | NR_024584 |
8 | lnc-PPIAL4B-1 | chr1:144340526-144340623 | ENSG00000235398.4 |
9 | lnc-AL592284.1-1 | chr1:144606369-144606510 | NONHSAT005825 |
10 | lnc-AL592284.1-1 | chr1:144593907-144593936 | ENSG00000225241 |
11 | lnc-PPIAL4B-1 | chr1:144301190-144301536 | NR_024584 |
12 | lnc-AL592284.1-1 | chr1:144596451-144596473 | NONHSAT005825 |
13 | lnc-AL592284.1-1 | chr1:144621447-144621655 | ENSG00000225241 |
14 | lnc-AL592284.1-1 | chr1:144619347-144619419 | ENSG00000225241 |
15 | lnc-AL592284.1-1 | chr1:144621447-144621656 | NR_102404 |
16 | lnc-PPIAL4B-1 | chr1:144341670-144341755 | NR_024584 |
17 | lnc-AL592284.1-3 | chr1:144215316-144215424 | NONHSAT005770 |
18 | lnc-AL592284.1-1 | chr1:144598512-144598780 | NONHSAT005825 |
19 | lnc-AL592284.1-1 | chr1:144614388-144614998 | ENSG00000225241 |
20 | lnc-PPIAL4B-1 | chr1:144340526-144340593 | ENSG00000235398 |
21 | lnc-AL592284.1-1 | chr1:144619883-144620094 | ENSG00000225241 |
22 | lnc-FAM72D-1 | chr1:144087684-144087804 | NONHSAT005766 |
23 | lnc-AL592284.1-1 | chr1:144612349-144612562 | NONHSAT005822 |
24 | lnc-AL592284.1-1 | chr1:144615096-144615303 | ENSG00000225241 |
25 | lnc-AL592284.1-1 | chr1:144614840-144614993 | ENSG00000225241 |
26 | lnc-AL592284.1-1 | chr1:144598512-144598780 | NONHSAT005823 |
27 | lnc-AL592284.1-1 | chr1:144619347-144619419 | ENSG00000225241 |
28 | lnc-PPIAL4B-4 | chr1:144297622-144297896 | expRegAs_chr1_13930_- |
29 | lnc-AL592284.1-1 | chr1:144619347-144619419 | NR_102405 |
30 | lnc-PPIAL4B-2 | chr1:144521639-144522054 | NONHSAT005811 |
31 | lnc-AL592284.1-4 | chr1:144167648-144167711 | NONHSAT005769 |
32 | lnc-AL592284.1-1 | chr1:144606369-144606510 | NONHSAT005822 |
33 | lnc-PPIAL4B-1 | chr1:144281066-144281169 | ENSG00000235398 |
34 | lnc-FAM72D-1 | chr1:144088423-144088668 | NONHSAT005767 |
35 | lnc-PPIAL4B-1 | chr1:144325839-144326185 | ENSG00000235398 |
36 | lnc-AL592284.1-1 | chr1:144606369-144606510 | NONHSAT005823 |
37 | lnc-PPIAL4B-5 | chr1:144475088-144475533 | predAs_chen_AA985444_1 |
38 | lnc-AL592284.1-1 | chr1:144598512-144598780 | ENSG00000225241 |
39 | lnc-AL592284.1-1 | chr1:144614959-144615303 | NR_102404 |
40 | lnc-PPIAL4B-2 | chr1:144460626-144460872 | ENSG00000236943.1 |
41 | lnc-AL592284.1-1 | chr1:144604478-144604508 | ENSG00000225241 |
42 | lnc-PPIAL4B-2 | chr1:144520774-144520983 | ENSG00000236943.1 |
43 | lnc-PPIAL4B-1 | chr1:144301326-144301536 | ENSG00000235398.4 |
44 | lnc-AL592284.1-3 | chr1:144214429-144214601 | NONHSAT005770 |
45 | lnc-PPIAL4B-2 | chr1:144520774-144520871 | NONHSAT005803 |
46 | lnc-AL592284.1-1 | chr1:144606369-144606510 | ENSG00000225241 |
47 | lnc-AL592284.1-3 | chr1:144212643-144213017 | NONHSAT005770 |
48 | lnc-PPIAL4B-1 | chr1:144340526-144340736 | ENSG00000235398 |
49 | lnc-PPIAL4B-2 | chr1:144520774-144520871 | ENSG00000236943.1 |
50 | lnc-AL592284.1-2 | chr1:144534038-144534457 | NONHSAT005812 |
No data |
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No. | miRNA target gene | miRNA name | Chromosome Location | mirBase accession |
---|---|---|---|---|
1 | NBPF15 | hsa-let-7b-5p | chr1:144166620-144166640 | |
2 | NBPF15 | hsa-let-7b-5p | chr1:144199965-144199985 | |
3 | NBPF15 | hsa-let-7b-5p | chr1:144174551-144174571 |
Variant related genes | Relation type |
---|---|
PPIAL4B | TF binding region |
PFN1P2 | TF binding region |
ENSG00000271223 | TF binding region |
RNVU1-4 | TF binding region |
RNVU1-5 | TF binding region |
RNU1-59P | TF binding region |
ENSG00000224363 | TF binding region |
NBPF8 | TF binding region |
ENSG00000225241 | TF binding region |
ENSG00000236943 | TF binding region |
ENSG00000271644 | TF binding region |
ENSG00000231360 | TF binding region |
ENSG00000215861 | TF binding region |
LINC00623 | TF binding region |
PPIAL4B | CpG island |
PFN1P2 | CpG island |
ENSG00000271223 | CpG island |
RNVU1-4 | CpG island |
RNVU1-5 | CpG island |
RNU1-59P | CpG island |
ENSG00000224363 | CpG island |
NBPF8 | CpG island |
ENSG00000225241 | CpG island |
ENSG00000236943 | CpG island |
ENSG00000271644 | CpG island |
ENSG00000231360 | CpG island |
ENSG00000215861 | CpG island |
LINC00623 | CpG island |
ENSG00000164087 | chromatin interactions |
ENSG00000144895 | chromatin interactions |
ENSG00000171863 | chromatin interactions |
ENSG00000146066 | chromatin interactions |
ENSG00000143578 | chromatin interactions |
ENSG00000207005 | chromatin interactions |
ENSG00000250220 | chromatin interactions |
ENSG00000166441 | chromatin interactions |
ENSG00000170633 | chromatin interactions |
ENSG00000120093 | chromatin interactions |
ENSG00000111231 | chromatin interactions |
ENSG00000172270 | chromatin interactions |
ENSG00000204569 | chromatin interactions |
ENSG00000140403 | chromatin interactions |
ENSG00000113838 | chromatin interactions |
ENSG00000173812 | chromatin interactions |
ENSG00000100554 | chromatin interactions |
ENSG00000261202 | chromatin interactions |
ENSG00000026025 | chromatin interactions |
ENSG00000067082 | chromatin interactions |
ENSG00000128463 | chromatin interactions |
ENSG00000170852 | chromatin interactions |
ENSG00000102144 | chromatin interactions |
ENSG00000171067 | chromatin interactions |
ENSG00000125375 | chromatin interactions |
ENSG00000123908 | chromatin interactions |
ENSG00000102996 | chromatin interactions |
ENSG00000108588 | chromatin interactions |
ENSG00000182197 | chromatin interactions |
ENSG00000125753 | chromatin interactions |
ENSG00000173207 | chromatin interactions |
ENSG00000168003 | chromatin interactions |
ENSG00000132466 | chromatin interactions |
ENSG00000203497 | chromatin interactions |
ENSG00000178104 | chromatin interactions |
ENSG00000149257 | chromatin interactions |
ENSG00000021776 | chromatin interactions |
ENSG00000266173 | chromatin interactions |
ENSG00000212456 | chromatin interactions |
ENSG00000119912 | chromatin interactions |
ENSG00000183598 | chromatin interactions |
ENSG00000223380 | chromatin interactions |
ENSG00000124193 | chromatin interactions |
ENSG00000258017 | chromatin interactions |
ENSG00000138085 | chromatin interactions |
ENSG00000242663 | chromatin interactions |
ENSG00000197622 | chromatin interactions |
ENSG00000112308 | chromatin interactions |
ENSG00000115415 | chromatin interactions |
ENSG00000175581 | chromatin interactions |
ENSG00000146063 | chromatin interactions |
ENSG00000089053 | chromatin interactions |
ENSG00000131791 | chromatin interactions |
ENSG00000153208 | chromatin interactions |
ENSG00000178607 | chromatin interactions |
ENSG00000116830 | chromatin interactions |
ENSG00000100227 | chromatin interactions |
ENSG00000186908 | chromatin interactions |
ENSG00000123091 | chromatin interactions |
ENSG00000117862 | chromatin interactions |
ENSG00000269501 | chromatin interactions |
ENSG00000249492 | chromatin interactions |
ENSG00000196544 | chromatin interactions |
ENSG00000267751 | chromatin interactions |
ENSG00000100354 | chromatin interactions |
ENSG00000202496 | chromatin interactions |
ENSG00000092531 | chromatin interactions |
ENSG00000143401 | chromatin interactions |
ENSG00000233396 | chromatin interactions |
ENSG00000201699 | chromatin interactions |
ENSG00000177666 | chromatin interactions |
ENSG00000138600 | chromatin interactions |
ENSG00000185825 | chromatin interactions |
ENSG00000151422 | chromatin interactions |
ENSG00000108264 | chromatin interactions |
ENSG00000171530 | chromatin interactions |
ENSG00000163399 | chromatin interactions |
ENSG00000138459 | chromatin interactions |
ENSG00000167460 | chromatin interactions |
ENSG00000113580 | chromatin interactions |
ENSG00000168010 | chromatin interactions |
ENSG00000007944 | chromatin interactions |
ENSG00000270141 | chromatin interactions |
ENSG00000181991 | chromatin interactions |
ENSG00000203814 | chromatin interactions |
ENSG00000134287 | chromatin interactions |
ENSG00000128272 | chromatin interactions |
ENSG00000079999 | chromatin interactions |
ENSG00000223473 | chromatin interactions |
ENSG00000184277 | chromatin interactions |
ENSG00000245904 | chromatin interactions |
ENSG00000113387 | chromatin interactions |
ENSG00000125775 | chromatin interactions |
ENSG00000271991 | chromatin interactions |
ENSG00000231721 | chromatin interactions |
ENSG00000245888 | chromatin interactions |
ENSG00000206737 | chromatin interactions |
ENSG00000143384 | chromatin interactions |
ENSG00000270022 | chromatin interactions |
ENSG00000143458 | chromatin interactions |
ENSG00000136854 | chromatin interactions |
ENSG00000230832 | chromatin interactions |
ENSG00000134697 | chromatin interactions |
ENSG00000160194 | chromatin interactions |
ENSG00000143158 | chromatin interactions |
ENSG00000272755 | chromatin interactions |
ENSG00000132142 | chromatin interactions |
ENSG00000145996 | chromatin interactions |
ENSG00000257548 | chromatin interactions |
ENSG00000126088 | chromatin interactions |
ENSG00000133059 | chromatin interactions |
ENSG00000092841 | chromatin interactions |
ENSG00000234028 | chromatin interactions |
ENSG00000256982 | chromatin interactions |
ENSG00000134717 | chromatin interactions |
ENSG00000136451 | chromatin interactions |
ENSG00000169189 | chromatin interactions |
ENSG00000116863 | chromatin interactions |
ENSG00000262001 | chromatin interactions |
ENSG00000252826 | chromatin interactions |
ENSG00000259708 | chromatin interactions |
ENSG00000236200 | chromatin interactions |
ENSG00000124198 | chromatin interactions |
ENSG00000007968 | chromatin interactions |
ENSG00000178096 | chromatin interactions |
ENSG00000234684 | chromatin interactions |
ENSG00000092853 | chromatin interactions |
ENSG00000108256 | chromatin interactions |
ENSG00000223501 | chromatin interactions |
ENSG00000184260 | chromatin interactions |
ENSG00000120738 | chromatin interactions |
ENSG00000272993 | chromatin interactions |
ENSG00000176619 | chromatin interactions |
ENSG00000099622 | chromatin interactions |
ENSG00000048162 | chromatin interactions |
ENSG00000083838 | chromatin interactions |
ENSG00000182872 | chromatin interactions |
ENSG00000126777 | chromatin interactions |
ENSG00000174446 | chromatin interactions |
ENSG00000082269 | chromatin interactions |
ENSG00000272426 | chromatin interactions |
ENSG00000186020 | chromatin interactions |
ENSG00000122884 | chromatin interactions |
ENSG00000200156 | chromatin interactions |
ENSG00000268032 | chromatin interactions |
ENSG00000232151 | chromatin interactions |
ENSG00000184678 | chromatin interactions |
ENSG00000112305 | chromatin interactions |
ENSG00000072121 | chromatin interactions |
ENSG00000197019 | chromatin interactions |
ENSG00000252656 | chromatin interactions |
ENSG00000206344 | chromatin interactions |
ENSG00000118515 | chromatin interactions |
ENSG00000136144 | chromatin interactions |
ENSG00000139722 | chromatin interactions |
ENSG00000143164 | chromatin interactions |
ENSG00000207501 | chromatin interactions |
ENSG00000237188 | chromatin interactions |
ENSG00000134001 | chromatin interactions |
ENSG00000166439 | chromatin interactions |
ENSG00000144848 | chromatin interactions |
ENSG00000164040 | chromatin interactions |
ENSG00000151881 | chromatin interactions |
ENSG00000091527 | chromatin interactions |
ENSG00000160193 | chromatin interactions |
ENSG00000243452 | chromatin interactions |
ENSG00000198231 | chromatin interactions |
ENSG00000063854 | chromatin interactions |
ENSG00000153094 | chromatin interactions |
ENSG00000105887 | chromatin interactions |
ENSG00000262420 | chromatin interactions |
ENSG00000129810 | chromatin interactions |
ENSG00000160691 | chromatin interactions |
ENSG00000076003 | chromatin interactions |
ENSG00000201558 | chromatin interactions |
ENSG00000150593 | chromatin interactions |
ENSG00000231500 | chromatin interactions |
ENSG00000233527 | chromatin interactions |
ENSG00000008405 | chromatin interactions |
ENSG00000230470 | chromatin interactions |
ENSG00000168040 | chromatin interactions |
ENSG00000236778 | chromatin interactions |
ENSG00000149925 | chromatin interactions |
ENSG00000160051 | chromatin interactions |
ENSG00000162298 | chromatin interactions |
ENSG00000183891 | chromatin interactions |
ENSG00000232956 | chromatin interactions |
ENSG00000102786 | chromatin interactions |
ENSG00000138074 | chromatin interactions |
ENSG00000065970 | chromatin interactions |
ENSG00000204856 | chromatin interactions |
ENSG00000207349 | chromatin interactions |
ENSG00000115963 | chromatin interactions |
ENSG00000108511 | chromatin interactions |
ENSG00000120306 | chromatin interactions |
ENSG00000179119 | chromatin interactions |
ENSG00000111276 | chromatin interactions |
ENSG00000199377 | chromatin interactions |
ENSG00000136159 | chromatin interactions |
ENSG00000087510 | chromatin interactions |
ENSG00000167280 | chromatin interactions |
ENSG00000175061 | chromatin interactions |
ENSG00000113441 | chromatin interactions |
ENSG00000226446 | chromatin interactions |
ENSG00000106479 | chromatin interactions |
ENSG00000168439 | chromatin interactions |
ENSG00000159208 | chromatin interactions |
ENSG00000110925 | chromatin interactions |
ENSG00000133639 | chromatin interactions |
ENSG00000268172 | chromatin interactions |
ENSG00000117054 | chromatin interactions |
ENSG00000267598 | chromatin interactions |
ENSG00000202408 | chromatin interactions |
ENSG00000180185 | chromatin interactions |
ENSG00000184270 | chromatin interactions |
ENSG00000237310 | chromatin interactions |
ENSG00000135316 | chromatin interactions |
ENSG00000185024 | chromatin interactions |
ENSG00000185947 | chromatin interactions |
ENSG00000115073 | chromatin interactions |
ENSG00000143570 | chromatin interactions |
ENSG00000100219 | chromatin interactions |
ENSG00000133398 | chromatin interactions |
ENSG00000087299 | chromatin interactions |
ENSG00000146963 | chromatin interactions |
ENSG00000236943 | chromatin interactions |
ENSG00000270103 | chromatin interactions |
ENSG00000150756 | chromatin interactions |
ENSG00000074800 | chromatin interactions |
ENSG00000136143 | chromatin interactions |
ENSG00000273071 | chromatin interactions |
ENSG00000147123 | chromatin interactions |
ENSG00000147403 | chromatin interactions |
ENSG00000222724 | chromatin interactions |
ENSG00000116761 | chromatin interactions |
ENSG00000196204 | chromatin interactions |
ENSG00000105137 | chromatin interactions |
ENSG00000207205 | chromatin interactions |
ENSG00000272822 | chromatin interactions |
ENSG00000063177 | chromatin interactions |
ENSG00000184009 | chromatin interactions |
ENSG00000085872 | chromatin interactions |
ENSG00000120742 | chromatin interactions |
ENSG00000251562 | chromatin interactions |
ENSG00000185670 | chromatin interactions |
ENSG00000127483 | chromatin interactions |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs587654607 | chr1:144013582-144013583 | Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
2 | rs587733559 | chr1:144013600-144013601 | Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
3 | rs56283947 | chr1:144013624-144013625 | Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
4 | rs587672763 | chr1:144013634-144013635 | Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
5 | rs587729688 | chr1:144013635-144013636 | Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
6 | rs587604527 | chr1:144013663-144013664 | Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
7 | rs587651684 | chr1:144013704-144013705 | Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
8 | rs587739228 | chr1:144013711-144013712 | Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
9 | rs587595563 | chr1:144013736-144013737 | Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
10 | rs587679450 | chr1:144013753-144013754 | Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
11 | rs6692593 | chr1:144013802-144013803 | Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' | n/a | n/a | Overlapped CNVs | n/a |
12 | rs11802863 | chr1:144013805-144013806 | Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' | n/a | n/a | Overlapped CNVs | n/a |
13 | rs587634703 | chr1:144013806-144013807 | Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' | n/a | n/a | Overlapped CNVs | n/a |
14 | rs587692023 | chr1:144013847-144013848 | Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' | n/a | n/a | Overlapped CNVs | n/a |
15 | rs6600697 | chr1:144013853-144013854 | Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' | n/a | n/a | Overlapped CNVs | n/a |
16 | rs6600696 | chr1:144013865-144013866 | Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' | n/a | n/a | Overlapped CNVs | n/a |
17 | rs56334123 | chr1:144013906-144013907 | Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' | n/a | n/a | Overlapped CNVs | n/a |
18 | rs587619805 | chr1:144013907-144013908 | Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' | n/a | n/a | Overlapped CNVs | n/a |
19 | rs587693615 | chr1:144013944-144013945 | Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' | n/a | n/a | Overlapped CNVs | n/a |
20 | rs57932928 | chr1:144013957-144013958 | Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' | n/a | n/a | Overlapped CNVs | n/a |
21 | rs587631244 | chr1:144013958-144013959 | Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' | n/a | n/a | Overlapped CNVs | n/a |
22 | rs587717359 | chr1:144013983-144013984 | Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' | n/a | n/a | Overlapped CNVs | n/a |
23 | rs587771804 | chr1:144013993-144013994 | Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' | n/a | n/a | Overlapped CNVs | n/a |
24 | rs587673002 | chr1:144014016-144014017 | Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs587725449 | chr1:144014050-144014051 | Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs1884147 | chr1:144014051-144014052 | Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs587603097 | chr1:144014058-144014059 | Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs1884146 | chr1:144014068-144014069 | Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs587640073 | chr1:144014088-144014089 | Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs368271027 | chr1:144014151-144014152 | Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs386635165 | chr1:144014155-144014156 | Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs59719524 | chr1:144014156-144014157 | Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs587712041 | chr1:144014169-144014170 | Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs6600695 | chr1:144014234-144014235 | Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs6600694 | chr1:144014253-144014254 | Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs587601107 | chr1:144014264-144014265 | Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs9439330 | chr1:144014271-144014272 | Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers | n/a | n/a | Overlapped CNVs | n/a |
38 | rs12563829 | chr1:144014345-144014346 | Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers | n/a | n/a | Overlapped CNVs | n/a |
39 | rs587677575 | chr1:144014368-144014369 | Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers | n/a | n/a | Overlapped CNVs | n/a |
40 | rs374501651 | chr1:144014374-144014375 | Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers | n/a | n/a | Overlapped CNVs | n/a |
41 | rs587734585 | chr1:144014384-144014385 | Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers | n/a | n/a | Overlapped CNVs | n/a |
42 | rs587609529 | chr1:144014411-144014412 | Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers | n/a | n/a | Overlapped CNVs | n/a |
43 | rs587669438 | chr1:144014448-144014449 | Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers | n/a | n/a | Overlapped CNVs | n/a |
44 | rs368551160 | chr1:144014490-144014491 | Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers | n/a | n/a | Overlapped CNVs | n/a |
45 | rs200922591 | chr1:144014502-144014503 | Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers | n/a | n/a | Overlapped CNVs | n/a |
46 | rs548053507 | chr1:144014504-144014505 | Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers | n/a | n/a | Overlapped CNVs | n/a |
47 | rs200264341 | chr1:144014506-144014507 | Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers | n/a | n/a | Overlapped CNVs | n/a |
48 | rs587734409 | chr1:144014508-144014509 | Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers | n/a | n/a | Overlapped CNVs | n/a |
49 | rs201601652 | chr1:144014510-144014511 | Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers | n/a | n/a | Overlapped CNVs | n/a |
50 | rs199841167 | chr1:144014515-144014516 | Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Wilms tumour | 21544195 | CNVD |
Breast cancer | 17603634 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
HIV/AIDS | 22032296 | CNVD |
Schizophrenia | 19415332 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Autism | 22495311 | CNVD |
Cancer | 21129771 | CNVD |
Non-small cell lung cancer | 21385341 | CNVD |
Autosomal dominant nocturnal frontal lobe epilepsy | 18472482 | CNVD |
Hirschsprung''s Disease | 21712996 | CNVD |
Non-small cell lung cancer | 20864512 | CNVD |
Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
Thrombocytopenia-absent radius syndrome | 21933853 | CNVD |
Psychiatric disorder | 22848183 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Liposarcoma | 21253554 | CNVD |
Diffuse large b-cell lymphoma | 18287131 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Burkitt''s lymphoma | 18698080 | CNVD |
Melanoma | 18172304 | CNVD |
Breast cancer | 20409316 | CNVD |
Splenic marginal zone lymphoma | 21957467 | CNVD |
Breast cancer | 17393978 | CNVD |
Cervical cancer | 21062161 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Cancer | 21183584 | CNVD |
Multiple myeloma | 16461302 | CNVD |
Lung cancer | 18438408 | CNVD |
Rett syndrome | 21593744 | CNVD |
Intellectual disability | 22102821 | CNVD |
Cancer | 20164919 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Systemic lupus erythematosus | 21956041 | CNVD |
Acute lymphoblastic leukemia | 17443227 | CNVD |
Breast cancer | 17133270 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Esophageal squamous carcinoma | 18350619 | CNVD |
Non-small cell lung cancer | 21829676 | CNVD |
Carcinoma ex pleomorphic adenoma | 18828159 | 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 |
Gastrointestinal stromal cancer | 20470368 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Medulloblastoma | 21292688 | CNVD |
Phyllodes tumor | 17334353 | CNVD |
Breast cancer | 21264507 | 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 |
Acute lymphoblastic leukemia | 21098271 | CNVD |
Neuroblastoma | 21899760 | CNVD |
Breast cancer | 17899364 | CNVD |
Bladder cancer | 19088036 | CNVD |
Ovarian neoplasms | 16753589 | CNVD |
Glioblastoma multiforme | 17002787 | CNVD |
Breast cancer | 21858162 | CNVD |
Breast cancer | 21611746 | CNVD |
Retinoblastoma | 19183342 | CNVD |
Chronic lymphocytic leukemia | 20421269 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Breast cancer | 21990379 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Schizophrenia | 22499536 | CNVD |
Schizophrenia | 18923514 | CNVD |
Neuroblastoma | 21124317 | CNVD |
Autism | 20970697 | CNVD |
Bipolar disorder | 19114987 | CNVD |
Epilepsy | 20970697 | CNVD |
Schizophrenia | 22118685 | CNVD |
Schizophrenia | 20587603 | CNVD |
Schizophrenia | 21285140 | CNVD |
Schizophrenia | 20553308 | CNVD |
Schizophrenia | 21956041 | CNVD |
Schizophrenia | 20970697 | CNVD |
Addison''s disease | 21851588 | CNVD |
Heart disease | 22199024 | CNVD |
Mental retardation | 19951919 | CNVD |
Ovarian cancer | 20844748 | CNVD |
Schizophrenia | 21399695 | CNVD |
Prostate cancer | 17217626 | CNVD |
Congenital heart defect | 22199024 | CNVD |
TAR Syndrome | 17847015 | CNVD |
Thrombocytopenia-absent radius syndrome | 17236129 | CNVD |
Autism | 18784092 | CNVD |
Congenital abnormalities | 18784092 | CNVD |
Mental retardation | 18784092 | CNVD |
Schizophrenia | 19855392 | CNVD |
Ovarian cancer | 22174824 | CNVD |
Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
Acute lymphoblastic leukemia | 21980252 | CNVD |
Breast cancer | 16608533 | CNVD |
Ewing''s sarcoma | 22429812 | CNVD |
Acute promyelocytic leukemia | 19109227 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Autism | 19521722 | CNVD |
Mental retardation | 19521722 | CNVD |
Schizophrenia | 19521646 | CNVD |
Neuroblastoma | 19536264 | CNVD |
Epilepsy | 20923578 | CNVD |
Mental retardation | 17124404 | CNVD |
Schizophrenia | 19348701 | CNVD |
Schizophrenia | 18668039 | CNVD |
Schizophrenia | 19443537 | CNVD |
Schizophrenia | 19571808 | CNVD |
Velocardiofacial syndrome | 19329560 | CNVD |
Autism | 19955444 | CNVD |
Autism | 20964600 | CNVD |
Schizophrenia | 19955444 | CNVD |
Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
Gastrointestinal stromal cancer | 19259404 | CNVD |
Colorectal cancer | 20459617 | CNVD |
Osteosarcoma | 19286668 | CNVD |
Osteosarcoma | 17242211 | CNVD |
Ovarian cancer | 17242211 | CNVD |
Ovine squamous-cell carcinoma | 17599052 | CNVD |
Schizophrenia | 18990708 | CNVD |
Sudden cardiac death | 19188705 | CNVD |
Plasma-cell dyscrasia | 16705089 | CNVD |
Myeloma | 17024118 | CNVD |
Cancer | 17060936 | CNVD |
Multiple myeloma | 16616336 | CNVD |
Type 2 diabetes | 19141583 | CNVD |
Chordoma | 18071362 | CNVD |
Hepatocellular carcinoma | 18803288 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Breast cancer | 17001317 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Burkitt''s lymphoma | 19759907 | CNVD |
Breast cancer | 17142309 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
Multiple myeloma | 17550852 | CNVD |
Prostate cancer | 18632612 | CNVD |
Follicular lymphoma | 18703704 | CNVD |
Lung adenocarcinoma | 17982442 | CNVD |
Breast cancer | 21509527 | CNVD |
Williams Syndrome | 20824207 | CNVD |
Tetralogy of Fallot | 22912587 | CNVD |
Autism | 18522746 | CNVD |
early-passage human iPS cells | 21368824 | CNVD |
Schizophrenia | 23813976 | CNVD |
Bladder cancer | 21909424 | CNVD |
Esophageal adenocarcinoma | 18519675 | CNVD |
Ovarian clear cell carcinoma | 21343371 | CNVD |
Non-syndromic sensorineural hearing loss | 21030649 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Acute lymphoblastic leukemia | 21248843 | CNVD |
Schizophrenia | 19197363 | CNVD |
Dyslexia | 22102821 | CNVD |
Breast cancer | 22522925 | CNVD |
Autism | 20808228 | CNVD |
Schizophrenia | 20838587 | CNVD |
Schizophrenia | 19805367 | CNVD |
Lung adenocarcinoma | 21935476 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Breast cancer | 20668451 | CNVD |
Cancer | 20668451 | CNVD |
Lung cancer | 20668451 | CNVD |
Ovarian cancer | 20668451 | CNVD |
Pancreas cancer | 20668451 | CNVD |
Prostate cancer | 20668451 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Schizophrenia | 20967226 | CNVD |
Autism | 20841430 | CNVD |
idiopathic generalized epilepsy | 19843651 | CNVD |
Schizophrenia | 19843651 | CNVD |
Cancer | 17440070 | CNVD |
Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr1:143999200-144013800 | Weak transcription | Primary T helper naive cells fromperipheralblood | blood |
2 | chr1:143999200-144013800 | Weak transcription | Primary T helper 17 cells PMA-I stimulated | -- |
3 | chr1:143999200-144013800 | Weak transcription | Primary T helper cells fromperipheralblood | blood |
4 | chr1:143999200-144013800 | Weak transcription | Dnd41 | blood |
5 | chr1:143999200-144014000 | Weak transcription | Primary T helper memory cells from peripheral blood 1 | blood |
6 | chr1:144002800-144013600 | Weak transcription | Primary T regulatory cells fromperipheralblood | blood |
7 | chr1:144003800-144013800 | Weak transcription | Primary T cells effector/memory enriched fromperipheralblood | blood |
8 | chr1:144006400-144015600 | Genic enhancers | Fetal Muscle Leg | muscle |
9 | chr1:144006400-144019400 | Strong transcription | Primary T cells from cord blood | blood |
10 | chr1:144006600-144014200 | Genic enhancers | hESC Derived CD56+ Mesoderm Cultured Cells | ES cell derived |
11 | chr1:144006800-144013600 | Enhancers | Foreskin Keratinocyte Primary Cells skin03 | Skin |
12 | chr1:144006800-144013800 | Enhancers | Breast Myoepithelial Primary Cells | Breast |
13 | chr1:144006800-144014000 | Enhancers | IMR90 fetal lung fibroblasts Cell Line | lung |
14 | chr1:144006800-144015200 | Enhancers | Right Atrium | heart |
15 | chr1:144007200-144013800 | Enhancers | Placenta Amnion | Placenta Amnion |
16 | chr1:144007400-144013800 | Weak transcription | Primary T cells fromperipheralblood | blood |
17 | chr1:144007400-144014000 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
18 | chr1:144007600-144013600 | Enhancers | HMEC | breast |
19 | chr1:144007600-144014400 | Enhancers | Psoas Muscle | Psoas |
20 | chr1:144007800-144013800 | Enhancers | Aorta | Aorta |
21 | chr1:144008000-144013800 | Enhancers | Hela-S3 | cervix |
22 | chr1:144008000-144014000 | Enhancers | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
23 | chr1:144008200-144014000 | Enhancers | Foreskin Melanocyte Primary Cells skin01 | Skin |
24 | chr1:144008400-144013800 | Weak transcription | Primary hematopoietic stem cells G-CSF-mobilized Female | -- |
25 | chr1:144008400-144013800 | Weak transcription | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
26 | chr1:144008600-144015600 | Weak transcription | Rectal Mucosa Donor 29 | rectum |
27 | chr1:144008800-144013800 | Weak transcription | Primary T killer memory cells from peripheral blood | blood |
28 | chr1:144008800-144015800 | Weak transcription | Primary T helper naive cells from peripheral blood | blood |
29 | chr1:144009000-144013600 | Enhancers | Foreskin Keratinocyte Primary Cells skin02 | Skin |
30 | chr1:144009000-144017600 | Weak transcription | Colonic Mucosa | Colon |
31 | chr1:144009600-144014000 | Enhancers | Fetal Brain Female | brain |
32 | chr1:144009800-144013800 | Weak transcription | Fetal Intestine Large | intestine |
33 | chr1:144010400-144013600 | Weak transcription | Primary Natural Killer cells fromperipheralblood | blood |
34 | chr1:144010400-144019000 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
35 | chr1:144010600-144013800 | Enhancers | Brain Dorsolateral Prefrontal Cortex | brain |
36 | chr1:144010800-144013800 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
37 | chr1:144010800-144013800 | Weak transcription | Fetal Intestine Small | intestine |
38 | chr1:144010800-144013800 | Weak transcription | Fetal Thymus | thymus |
39 | chr1:144010800-144013800 | Weak transcription | Gastric | stomach |
40 | chr1:144010800-144013800 | Weak transcription | Pancreas | Pancrea |
41 | chr1:144010800-144013800 | Enhancers | HSMM | muscle |
42 | chr1:144011000-144013600 | Weak transcription | Primary T helper cells PMA-I stimulated | -- |
43 | chr1:144011000-144013600 | Enhancers | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
44 | chr1:144011000-144013800 | Weak transcription | H1 Cell Line | embryonic stem cell |
45 | chr1:144011000-144013800 | Weak transcription | Esophagus | oesophagus |
46 | chr1:144011000-144013800 | Weak transcription | Small Intestine | intestine |
47 | chr1:144011000-144013800 | Weak transcription | Thymus | Thymus |
48 | chr1:144011000-144014000 | Enhancers | Skeletal Muscle Male | skeletal muscle |
49 | chr1:144011000-144014200 | Enhancers | Brain Substantia Nigra | brain |
50 | chr1:144011000-144014200 | Weak transcription | K562 | blood |