Variant report
Variant | esv1820451 |
---|---|
Chromosome Location | chr1:144337333-144399449 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:520)
- CpG islands (count:184)
- Chromatin interactive region (count:0)
- LncRNA region (count:19)
- 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 | BATF | chr1:144389062-144389424 | GM12878 | blood: | n/a | chr1:144389254-144389265 |
2 | BATF | chr1:144339194-144339724 | GM12878 | blood: | n/a | n/a |
3 | BATF | chr1:144338647-144338871 | GM12878 | blood: | n/a | n/a |
4 | BATF | chr1:144379807-144380075 | GM12878 | blood: | n/a | n/a |
5 | BATF | chr1:144355376-144355716 | GM12878 | blood: | n/a | n/a |
6 | BATF | chr1:144383148-144383357 | GM12878 | blood: | n/a | n/a |
7 | BATF | chr1:144339109-144341237 | GM12878 | blood: | n/a | n/a |
8 | BATF | chr1:144383897-144384409 | GM12878 | blood: | n/a | n/a |
9 | BATF | chr1:144343242-144343436 | GM12878 | blood: | n/a | n/a |
10 | BATF | chr1:144341526-144342037 | GM12878 | blood: | n/a | n/a |
11 | BATF | chr1:144383867-144384453 | GM12878 | blood: | n/a | n/a |
12 | BATF | chr1:144393889-144394266 | GM12878 | blood: | n/a | chr1:144393981-144393992 chr1:144394139-144394149 |
13 | BATF | chr1:144355401-144355740 | GM12878 | blood: | n/a | n/a |
14 | BATF | chr1:144384899-144385095 | GM12878 | blood: | n/a | n/a |
15 | BATF | chr1:144383148-144383389 | GM12878 | blood: | n/a | n/a |
16 | BATF | chr1:144389055-144389404 | GM12878 | blood: | n/a | chr1:144389254-144389265 |
17 | BATF | chr1:144379834-144380086 | GM12878 | blood: | n/a | n/a |
18 | BATF | chr1:144393767-144394272 | GM12878 | blood: | n/a | chr1:144393981-144393992 chr1:144394139-144394149 |
19 | BATF | chr1:144340377-144340881 | GM12878 | blood: | n/a | n/a |
20 | BATF | chr1:144341397-144342307 | GM12878 | blood: | n/a | n/a |
21 | BCL11A | chr1:144393764-144394277 | GM12878 | blood: | n/a | chr1:144394141-144394150 |
22 | BCL11A | chr1:144339111-144341319 | GM12878 | blood: | n/a | chr1:144341113-144341126 chr1:144340129-144340138 chr1:144341106-144341119 chr1:144339852-144339861 chr1:144340130-144340143 chr1:144341165-144341174 chr1:144340443-144340456 |
23 | BCL11A | chr1:144379152-144379326 | GM12878 | blood: | n/a | n/a |
24 | BCL11A | chr1:144383818-144384488 | GM12878 | blood: | n/a | n/a |
25 | BCL11A | chr1:144383884-144384348 | GM12878 | blood: | n/a | n/a |
26 | BCL11A | chr1:144389063-144389405 | GM12878 | blood: | n/a | n/a |
27 | BCL11A | chr1:144346853-144347032 | GM12878 | blood: | n/a | n/a |
28 | BCL11A | chr1:144389051-144389364 | GM12878 | blood: | n/a | n/a |
29 | BCL11A | chr1:144341448-144342159 | GM12878 | blood: | n/a | chr1:144341848-144341857 chr1:144342124-144342131 |
30 | BCL11A | chr1:144337966-144338252 | GM12878 | blood: | n/a | n/a |
31 | BCL11A | chr1:144338573-144342305 | GM12878 | blood: | n/a | chr1:144341848-144341857 chr1:144341113-144341126 chr1:144340129-144340138 chr1:144341106-144341119 chr1:144339852-144339861 chr1:144340130-144340143 chr1:144341165-144341174 chr1:144340443-144340456 chr1:144342124-144342131 |
32 | BCL11A | chr1:144343226-144343500 | GM12878 | blood: | n/a | n/a |
33 | BCL11A | chr1:144383132-144383364 | GM12878 | blood: | n/a | n/a |
34 | BHLHE40 | chr1:144340285-144340772 | HepG2 | liver: | n/a | n/a |
35 | BHLHE40 | chr1:144365400-144365775 | HepG2 | liver: | n/a | n/a |
36 | CEBPB | chr1:144339949-144340293 | K562 | blood: | n/a | n/a |
37 | CEBPB | chr1:144340095-144340269 | K562 | blood: | n/a | n/a |
38 | CEBPB | chr1:144339106-144340157 | GM12878 | blood: | n/a | n/a |
39 | CEBPB | chr1:144339988-144340250 | K562 | blood: | n/a | n/a |
40 | CEBPB | chr1:144339236-144339678 | K562 | blood: | n/a | n/a |
41 | CTCF | chr1:144359596-144359719 | GM10248 | blood: | n/a | n/a |
42 | CTCF | chr1:144340339-144340425 | GM10266 | blood: | n/a | chr1:144340358-144340371 |
43 | CTCF | chr1:144340232-144340316 | GM10248 | blood: | n/a | n/a |
44 | CTCF | chr1:144339924-144339983 | GM10266 | blood: | n/a | n/a |
45 | CTCF | chr1:144340360-144340492 | GM10248 | blood: | n/a | n/a |
46 | CTCF | chr1:144398760-144398813 | GM10248 | blood: | n/a | n/a |
47 | CTCF | chr1:144398827-144398898 | Spleen_OC | spleen: | n/a | n/a |
48 | CTCF | chr1:144359279-144359307 | LNCaP | prostate: | n/a | n/a |
49 | CTCF | chr1:144339741-144339818 | GM10266 | blood: | n/a | chr1:144339785-144339798 |
50 | CTCF | chr1:144340391-144340446 | Spleen_OC | spleen: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr1:144340103-144340153 | A549 | lung: | n/a |
2 | chr1:144340103-144340153 | A549 | lung: | n/a |
3 | chr1:144340103-144340153 | HRPEpiC | eye: | n/a |
4 | chr1:144340251-144340301 | SK-N-SH | brain: | n/a |
5 | chr1:144340251-144340301 | PANC-1 | pancreas: | n/a |
6 | chr1:144340251-144340301 | HRE | kidney: | n/a |
7 | chr1:144340161-144340211 | BJ | skin: | n/a |
8 | chr1:144340251-144340301 | PFSK-1 | brain: | n/a |
9 | chr1:144340251-144340301 | NHBE | bronchial: | n/a |
10 | chr1:144340103-144340153 | HCM | heart: | n/a |
11 | chr1:144340161-144340211 | SAEC | small airway: | n/a |
12 | chr1:144340161-144340211 | PFSK-1 | brain: | n/a |
13 | chr1:144340161-144340211 | ECC-1 | luminal epithelium: | n/a |
14 | chr1:144340103-144340153 | NHDF-neo | bronchial: | n/a |
15 | chr1:144340103-144340153 | GM12891 | blood: | n/a |
16 | chr1:144340103-144340153 | PANC-1 | pancreas: | n/a |
17 | chr1:144340251-144340301 | AG10803 | skin: | n/a |
18 | chr1:144340161-144340211 | PrEC | prostate: | n/a |
19 | chr1:144340161-144340211 | HCF | heart: | n/a |
20 | chr1:144340161-144340211 | IMR90 | lung: | fetal |
21 | chr1:144340251-144340301 | SK-N-MC | brain: | n/a |
22 | chr1:144340161-144340211 | SK-N-SH | brain: | n/a |
23 | chr1:144340251-144340301 | MCF10A-Er-Src | breast: | n/a |
24 | chr1:144340103-144340153 | SKMC | muscle: | n/a |
25 | chr1:144340161-144340211 | RPTEC | kidney: | n/a |
26 | chr1:144340161-144340211 | AG09309 | skin: | n/a |
27 | chr1:144340251-144340301 | Caco-2 | colon: | n/a |
28 | chr1:144340251-144340301 | HCF | heart: | n/a |
29 | chr1:144340161-144340211 | AG09319 | gingival: | n/a |
30 | chr1:144340103-144340153 | ovcar-3 | ovarian: | n/a |
31 | chr1:144340251-144340301 | HCT-116 | colon: | n/a |
32 | chr1:144340103-144340153 | PFSK-1 | brain: | n/a |
33 | chr1:144340161-144340211 | GM19239 | blood: | n/a |
34 | chr1:144340251-144340301 | NHDF-neo | bronchial: | n/a |
35 | chr1:144340103-144340153 | HEK293 | kidney: | embryo |
36 | chr1:144340161-144340211 | HRCEpiC | kidney: | n/a |
37 | chr1:144340251-144340301 | HUVEC | blood vessel: | n/a |
38 | chr1:144340161-144340211 | CMK | blood: | n/a |
39 | chr1:144340103-144340153 | HUVEC | blood vessel: | n/a |
40 | chr1:144340251-144340301 | SKMC | muscle: | n/a |
41 | chr1:144340251-144340301 | MCF-7 | breast: | n/a |
42 | chr1:144340161-144340211 | HEK293 | kidney: | embryo |
43 | chr1:144340161-144340211 | NH-A | brain: | n/a |
44 | chr1:144340251-144340301 | T-47D | breast: | n/a |
45 | chr1:144340161-144340211 | HRPEpiC | eye: | n/a |
46 | chr1:144340161-144340211 | HRE | kidney: | n/a |
47 | chr1:144340161-144340211 | K562 | blood: | n/a |
48 | chr1:144340251-144340301 | AG09309 | skin: | n/a |
49 | chr1:144340161-144340211 | AG04450 | lung: | fetal |
50 | chr1:144340103-144340153 | HCPEpiC | choroid plexus: | n/a |
No data |
(count:19 , 50 per page) page:
1
No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-PPIAL4B-1 | chr1:144340526-144340736 | ENSG00000235398 |
2 | lnc-PPIAL4B-1 | chr1:144340526-144340593 | ENSG00000235398 |
3 | lnc-PPIAL4B-1 | chr1:144340851-144341057 | ENSG00000235398 |
4 | lnc-PPIAL4B-1 | chr1:144340526-144340623 | ENSG00000235398.4 |
5 | lnc-PPIAL4B-1 | chr1:144341670-144341755 | NR_024584 |
6 | lnc-PPIAL4B-3 | chr1:144392143-144392429 | NONHSAT005791 |
7 | lnc-PPIAL4B-1 | chr1:144340851-144341057 | ENSG00000235398.4 |
8 | lnc-PPIAL4B-1 | chr1:144340526-144340773 | NONHSAT005781 |
9 | lnc-PPIAL4B-1 | chr1:144340526-144340623 | NONHSAT005782 |
10 | lnc-PPIAL4B-1 | chr1:144339564-144339618 | ENSG00000235398 |
11 | lnc-PPIAL4B-1 | chr1:144340526-144340623 | NR_024584 |
12 | lnc-PPIAL4B-1 | chr1:144340526-144340671 | ENSG00000235398 |
13 | lnc-PPIAL4B-1 | chr1:144341670-144341755 | NONHSAT005782 |
14 | lnc-PPIAL4B-1 | chr1:144341670-144341756 | ENSG00000235398.4 |
15 | lnc-PPIAL4B-1 | chr1:144340526-144340773 | NONHSAT005780 |
16 | lnc-PPIAL4B-1 | chr1:144340526-144340623 | ENSG00000235398.4 |
17 | lnc-PPIAL4B-1 | chr1:144340526-144340754 | ENSG00000235398 |
18 | lnc-PPIAL4B-1 | chr1:144340526-144340623 | ENSG00000235398 |
19 | lnc-PPIAL4B-1 | chr1:144340526-144340773 | NR_109754 |
No data |
No data |
Variant related genes | Relation type |
---|---|
PPIAL4B | TF binding region |
ENSG00000271223 | TF binding region |
ENSG00000231360 | TF binding region |
LINC00623 | TF binding region |
PPIAL4B | CpG island |
ENSG00000271223 | CpG island |
ENSG00000231360 | CpG island |
LINC00623 | CpG island |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs201484278 | chr1:144337466-144337467 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
2 | rs587743208 | chr1:144337567-144337568 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
3 | rs587614002 | chr1:144337594-144337595 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
4 | rs61804356 | chr1:144337818-144337819 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
5 | rs587693897 | chr1:144337988-144337989 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
6 | rs587625787 | chr1:144337993-144337994 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
7 | rs111866509 | chr1:144337999-144338000 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
8 | rs201138341 | chr1:144338380-144338381 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
9 | rs201690167 | chr1:144338584-144338585 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
10 | rs539340 | chr1:144338703-144338704 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
11 | rs9441073 | chr1:144339102-144339103 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
12 | rs542980 | chr1:144339105-144339106 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
13 | rs9440986 | chr1:144339159-144339160 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
14 | rs9440985 | chr1:144339186-144339187 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
15 | rs11485949 | chr1:144339361-144339362 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
16 | rs199651624 | chr1:144339401-144339402 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
17 | rs587685832 | chr1:144339850-144339851 | Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
18 | rs368018584 | chr1:144340115-144340116 | Active TSS | TF binding regionCpG island | 1 gene(s) | Overlapped CNVs | n/a |
19 | rs111624514 | chr1:144340197-144340198 | Active TSS | TF binding regionCpG island | 1 gene(s) | Overlapped CNVs | n/a |
20 | rs28431188 | chr1:144340472-144340473 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
21 | rs61804357 | chr1:144340621-144340622 | Inactive region | TF binding regionlncRNA | 1 gene(s) | Overlapped CNVs | n/a |
22 | rs28493136 | chr1:144340701-144340702 | Inactive region | TF binding regionlncRNA | 1 gene(s) | Overlapped CNVs | n/a |
23 | rs28652819 | chr1:144340743-144340744 | Inactive region | TF binding regionlncRNA | 1 gene(s) | Overlapped CNVs | n/a |
24 | rs371714189 | chr1:144340848-144340849 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
25 | rs2743772 | chr1:144341727-144341728 | Inactive region | TF binding regionlncRNA | 1 gene(s) | Overlapped CNVs | n/a |
26 | rs9440984 | chr1:144341836-144341837 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
27 | rs2743775 | chr1:144341939-144341940 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
28 | rs9441071 | chr1:144341954-144341955 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
29 | rs375162394 | chr1:144343342-144343343 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
30 | rs369663924 | chr1:144343471-144343472 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
31 | rs377061741 | chr1:144343963-144343964 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
32 | rs587618969 | chr1:144343987-144343988 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
33 | rs200916128 | chr1:144343992-144343993 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
34 | rs9441069 | chr1:144344102-144344103 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
35 | rs2646888 | chr1:144344300-144344301 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
36 | rs56267692 | chr1:144344398-144344399 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
37 | rs9441064 | chr1:144344490-144344491 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
38 | rs56196512 | chr1:144344537-144344538 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
39 | rs373514435 | chr1:144365796-144365797 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
40 | rs201361004 | chr1:144365890-144365891 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
41 | rs202195564 | chr1:144365901-144365902 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
42 | rs587665945 | chr1:144365936-144365937 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
43 | rs370515220 | chr1:144366214-144366215 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
44 | rs374462851 | chr1:144366238-144366239 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
45 | rs659645 | chr1:144367659-144367660 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
46 | rs2596014 | chr1:144393842-144393843 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
47 | rs61801788 | chr1:144394052-144394053 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
48 | rs536580 | chr1:144394170-144394171 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
49 | rs61801846 | chr1:144396866-144396867 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
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 |
Wilms tumour | 21544195 | 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 |
Schizophrenia | 23813976 | CNVD |
Bladder cancer | 21909424 | CNVD |
Esophageal adenocarcinoma | 18519675 | CNVD |
Ovarian clear cell carcinoma | 21343371 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Acute lymphoblastic leukemia | 21248843 | CNVD |
Schizophrenia | 19197363 | CNVD |
Dyslexia | 22102821 | CNVD |
Autism | 20808228 | CNVD |
Schizophrenia | 19805367 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Breast cancer | 22522925 | CNVD |
Schizophrenia | 20967226 | CNVD |
Autism | 20841430 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr1:144339800-144340400 | Active TSS | Fetal Adrenal Gland | Adrenal Gland |
2 | chr1:144339800-144340400 | Active TSS | Fetal Brain Female | brain |
3 | chr1:144339800-144340400 | Active TSS | HMEC | breast |
4 | chr1:144340000-144340400 | Active TSS | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
5 | chr1:144340000-144340400 | Active TSS | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
6 | chr1:144340000-144340400 | Active TSS | hESC Derived CD56+ Mesoderm Cultured Cells | ES cell derived |
7 | chr1:144340000-144340400 | Active TSS | HUES64 Cell Line | embryonic stem cell |
8 | chr1:144340000-144340400 | Active TSS | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
9 | chr1:144340000-144340400 | Active TSS | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
10 | chr1:144340000-144340400 | Active TSS | Cortex derived primary cultured neurospheres | brain |
11 | chr1:144340000-144340400 | Active TSS | Ganglion Eminence derived primary cultured neurospheres | brain |
12 | chr1:144340000-144340400 | Active TSS | Brain Germinal Matrix | brain |
13 | chr1:144340000-144340400 | Active TSS | Placenta | Placenta |
14 | chr1:144340000-144340400 | Active TSS | Rectal Mucosa Donor 29 | rectum |
15 | chr1:144340000-144340400 | Active TSS | Rectal Smooth Muscle | rectum |
16 | chr1:144340000-144340400 | Active TSS | Stomach Smooth Muscle | stomach |