Variant report
Variant | nsv946295 |
---|---|
Chromosome Location | chr1:146471863-146507583 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:117)
- CpG islands (count:244)
- Chromatin interactive region (count:14)
- LncRNA region (count:12)
- 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 | chr1:146477562-146477765 | GM12878 | blood: | n/a | chr1:146477733-146477744 |
2 | BATF | chr1:146477569-146477873 | GM12878 | blood: | n/a | chr1:146477733-146477744 |
3 | BCL11A | chr1:146477340-146477584 | GM12878 | blood: | n/a | n/a |
4 | CBX3 | chr1:146477504-146478004 | K562 | blood: | n/a | n/a |
5 | CEBPB | chr1:146501953-146502260 | IMR90 | lung: | n/a | n/a |
6 | CEBPB | chr1:146498283-146498449 | K562 | blood: | n/a | n/a |
7 | CEBPB | chr1:146499031-146499218 | HepG2 | liver: | n/a | chr1:146499089-146499100 |
8 | CEBPB | chr1:146498284-146498468 | Hela-S3 | cervix: | n/a | n/a |
9 | CEBPB | chr1:146504495-146504541 | K562 | blood: | n/a | n/a |
10 | CEBPB | chr1:146476585-146476778 | HepG2 | liver: | n/a | n/a |
11 | CEBPB | chr1:146501929-146502262 | Hela-S3 | cervix: | n/a | n/a |
12 | CTCF | chr1:146478680-146478830 | WERI-Rb-1 | eye: | n/a | n/a |
13 | CTCF | chr1:146475146-146475204 | LNCaP | prostate: | n/a | n/a |
14 | CTCF | chr1:146475080-146475230 | HMEC | breast: | n/a | n/a |
15 | CTCF | chr1:146473920-146474070 | HPF | lung: | n/a | n/a |
16 | CTCF | chr1:146475139-146475158 | GM12878 | blood: | n/a | n/a |
17 | CTCF | chr1:146473920-146474070 | HMF | breast: | n/a | n/a |
18 | CTCF | chr1:146475020-146475170 | GM12869 | blood: | n/a | n/a |
19 | CTCF | chr1:146473920-146474070 | AoAF | blood vessel: | n/a | n/a |
20 | CTCF | chr1:146473880-146474030 | AG10803 | skin: | n/a | n/a |
21 | CTCF | chr1:146473900-146474050 | HCPEpiC | choroid plexus: | n/a | n/a |
22 | CTCF | chr1:146474000-146474150 | HPAF | blood vessel: | n/a | n/a |
23 | CTCF | chr1:146475380-146475530 | GM12873 | blood: | n/a | n/a |
24 | CTCF | chr1:146475109-146475212 | LNCaP | prostate: | n/a | n/a |
25 | CTCF | chr1:146488638-146488711 | GM20000 | blood: | n/a | n/a |
26 | CTCF | chr1:146473880-146474030 | MCF-7 | breast: | n/a | n/a |
27 | CTCF | chr1:146473880-146474030 | BJ | skin: | n/a | n/a |
28 | CTCF | chr1:146474200-146474350 | MCF-7 | breast: | n/a | n/a |
29 | CTCF | chr1:146492355-146492406 | GM10248 | blood: | n/a | n/a |
30 | CTCF | chr1:146473800-146473950 | HFF | foreskin: | n/a | n/a |
31 | CTCF | chr1:146506220-146506370 | HBMEC | blood vessel: | n/a | n/a |
32 | CTCF | chr1:146473920-146474070 | MCF-7 | breast: | n/a | n/a |
33 | CTCF | chr1:146473880-146474030 | HCM | heart: | n/a | n/a |
34 | CTCF | chr1:146474180-146474330 | HPF | lung: | n/a | n/a |
35 | EP300 | chr1:146475550-146475926 | GM12878 | blood: | n/a | chr1:146475600-146475614 |
36 | EP300 | chr1:146474635-146474902 | GM12878 | blood: | n/a | n/a |
37 | FOS | chr1:146501663-146502274 | MCF10A-Er-Src | breast: | n/a | chr1:146502068-146502078 chr1:146501927-146501937 chr1:146502069-146502077 chr1:146502068-146502078 chr1:146502068-146502078 chr1:146502068-146502078 |
38 | FOS | chr1:146501756-146502221 | MCF10A-Er-Src | breast: | n/a | chr1:146502068-146502078 chr1:146501927-146501937 chr1:146502069-146502077 chr1:146502068-146502078 chr1:146502068-146502078 chr1:146502068-146502078 |
39 | FOS | chr1:146501622-146502265 | MCF10A-Er-Src | breast: | n/a | chr1:146502068-146502078 chr1:146501927-146501937 chr1:146502069-146502077 chr1:146502068-146502078 chr1:146502068-146502078 chr1:146502068-146502078 |
40 | FOS | chr1:146501900-146502231 | MCF10A-Er-Src | breast: | n/a | chr1:146502068-146502078 chr1:146501927-146501937 chr1:146502069-146502077 chr1:146502068-146502078 chr1:146502068-146502078 chr1:146502068-146502078 |
41 | FOSL2 | chr1:146475987-146476347 | HepG2 | liver: | n/a | n/a |
42 | FOSL2 | chr1:146476946-146477207 | HepG2 | liver: | n/a | n/a |
43 | FOXA1 | chr1:146472969-146473383 | HepG2 | liver: | n/a | n/a |
44 | GABPA | chr1:146474867-146474991 | Hela-S3 | cervix: | n/a | n/a |
45 | GABPA | chr1:146473044-146473254 | Hela-S3 | cervix: | n/a | n/a |
46 | GABPA | chr1:146475551-146475937 | Hela-S3 | cervix: | n/a | n/a |
47 | GABPA | chr1:146475950-146476180 | Hela-S3 | cervix: | n/a | n/a |
48 | GABPA | chr1:146476557-146476688 | Hela-S3 | cervix: | n/a | n/a |
49 | GABPA | chr1:146475163-146475526 | Hela-S3 | cervix: | n/a | n/a |
50 | GATA3 | chr1:146502007-146502303 | MCF-7 | breast: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr1:146498485-146498535 | IMR90 | lung: | fetal |
2 | chr1:146503900-146503950 | AG10803 | skin: | n/a |
3 | chr1:146503900-146503950 | HRPEpiC | eye: | n/a |
4 | chr1:146503900-146503950 | GM12892 | blood: | n/a |
5 | chr1:146495202-146495252 | GM06990 | blood: | n/a |
6 | chr1:146495202-146495252 | U87 | brain: | n/a |
7 | chr1:146498485-146498535 | HCPEpiC | choroid plexus: | n/a |
8 | chr1:146503900-146503950 | MCF10A-Er-Src | breast: | n/a |
9 | chr1:146503900-146503950 | HCF | heart: | n/a |
10 | chr1:146494928-146494978 | HAEpiC | amniotic membrane: | n/a |
11 | chr1:146498485-146498535 | PFSK-1 | brain: | n/a |
12 | chr1:146494928-146494978 | NHDF-neo | bronchial: | n/a |
13 | chr1:146503900-146503950 | AoSMC | blood vessel: | n/a |
14 | chr1:146503900-146503950 | Caco-2 | colon: | n/a |
15 | chr1:146498485-146498535 | Hepatocyte | liver: | n/a |
16 | chr1:146503900-146503950 | HL-60 | blood: | n/a |
17 | chr1:146498485-146498535 | Jurkat | blood: | n/a |
18 | chr1:146498485-146498535 | HL-60 | blood: | n/a |
19 | chr1:146498485-146498535 | NB4 | blood: | n/a |
20 | chr1:146503900-146503950 | HPAEpiC | pulmonary alveolar: | n/a |
21 | chr1:146498485-146498535 | NHDF-neo | bronchial: | n/a |
22 | chr1:146498485-146498535 | H1-hESC | embryonic stem cell: | embryo |
23 | chr1:146503900-146503950 | AG04449 | skin: | fetal |
24 | chr1:146494928-146494978 | ProgFib | skin: | n/a |
25 | chr1:146494928-146494978 | HUVEC | blood vessel: | n/a |
26 | chr1:146498485-146498535 | Hela-S3 | cervix: | n/a |
27 | chr1:146495202-146495252 | AoSMC | blood vessel: | n/a |
28 | chr1:146503900-146503950 | ProgFib | skin: | n/a |
29 | chr1:146503900-146503950 | SK-N-SH | brain: | n/a |
30 | chr1:146494928-146494978 | PrEC | prostate: | n/a |
31 | chr1:146498485-146498535 | HepG2 | liver: | n/a |
32 | chr1:146495202-146495252 | HMEC | breast: | n/a |
33 | chr1:146503900-146503950 | GM12891 | blood: | n/a |
34 | chr1:146498485-146498535 | HEEpiC | esophagus: | n/a |
35 | chr1:146494928-146494978 | Caco-2 | colon: | n/a |
36 | chr1:146498485-146498535 | GM19239 | blood: | n/a |
37 | chr1:146494928-146494978 | SKMC | muscle: | n/a |
38 | chr1:146494928-146494978 | AG04449 | skin: | fetal |
39 | chr1:146503900-146503950 | HCT-116 | colon: | n/a |
40 | chr1:146498485-146498535 | NT2-D1 | testis: | n/a |
41 | chr1:146494928-146494978 | AG09319 | gingival: | n/a |
42 | chr1:146494928-146494978 | GM12878 | blood: | n/a |
43 | chr1:146503900-146503950 | AG09309 | skin: | n/a |
44 | chr1:146494928-146494978 | BE2_C | brain: | n/a |
45 | chr1:146494928-146494978 | HEEpiC | esophagus: | n/a |
46 | chr1:146495202-146495252 | GM19239 | blood: | n/a |
47 | chr1:146498485-146498535 | AoSMC | blood vessel: | n/a |
48 | chr1:146498485-146498535 | AG09309 | skin: | n/a |
49 | chr1:146495202-146495252 | AG04450 | lung: | fetal |
50 | chr1:146495202-146495252 | SAEC | small airway: | n/a |
(count:14 , 50 per page) page:
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr1:144891445..144893339-chr1:146502271..146504240,2 | MCF-7 | breast: | |
2 | chr1:146500874..146503757-chr1:146554554..146557584,3 | K562 | blood: | |
3 | chr1:146500894..146503604-chr1:146505375..146507725,2 | MCF-7 | breast: | |
4 | chr1:146505925..146509776-chr1:146553090..146557502,5 | K562 | blood: | |
5 | chr1:144889740..144892703-chr1:146500075..146502138,3 | MCF-7 | breast: | |
6 | chr1:144890884..144894068-chr1:146500995..146504405,3 | K562 | blood: | |
7 | chr1:146500274..146502846-chr1:146563478..146565211,2 | MCF-7 | breast: | |
8 | chr1:146500715..146505145-chr1:146554885..146558544,5 | MCF-7 | breast: | |
9 | chr1:144883229..144886021-chr1:146495313..146498284,2 | MCF-7 | breast: | |
10 | chr1:146500894..146503604-chr1:146505375..146507725,2 | MCF-7 | breast: | |
11 | chr1:146502664..146505503-chr1:146555291..146557477,4 | MCF-7 | breast: | |
12 | chr1:146505843..146507927-chr1:146554979..146557647,2 | K562 | blood: | |
13 | chr1:146497930..146500435-chr1:146553357..146556279,3 | MCF-7 | breast: | |
14 | chr1:146503324..146505730-chr1:146554828..146557692,2 | K562 | blood: |
(count:12 , 50 per page) page:
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-PRKAB2-2 | chr1:146473841-146473891 | ENSG00000234225.2 |
2 | lnc-PRKAB2-2 | chr1:146474456-146474750 | XLOC_001001 |
3 | lnc-PRKAB2-2 | chr1:146473988-146474136 | XLOC_001001 |
4 | lnc-PRKAB2-2 | chr1:146473499-146473891 | XLOC_001001 |
5 | lnc-PRKAB2-2 | chr1:146474456-146474743 | ENSG00000234225.2 |
6 | lnc-PRKAB2-2 | chr1:146474456-146474743 | XLOC_001001 |
7 | lnc-PRKAB2-2 | chr1:146474456-146474750 | ENSG00000234225.2 |
8 | lnc-PRKAB2-2 | chr1:146475140-146475177 | ENSG00000234225.2 |
9 | lnc-PRKAB2-2 | chr1:146473735-146473891 | XLOC_001001 |
10 | lnc-PRKAB2-2 | chr1:146473490-146473891 | ENSG00000234225.2 |
11 | lnc-PRKAB2-2 | chr1:146475140-146475178 | XLOC_001001 |
12 | lnc-PRKAB2-2 | chr1:146473988-146474136 | ENSG00000234225.2 |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000234225 | TF binding region |
ENSG00000234225 | CpG island |
ENSG00000230832 | chromatin interactions |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs375696976 | chr1:146471888-146471889 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs587773231 | chr1:146471923-146471924 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs77918836 | chr1:146471924-146471925 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs9326554 | chr1:146471932-146471933 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs138975680 | chr1:146471945-146471946 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs376080414 | chr1:146471946-146471947 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs67168403 | chr1:146471954-146471955 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs200959171 | chr1:146471976-146471977 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs4086316 | chr1:146471997-146471998 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs4111460 | chr1:146472016-146472017 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs587701280 | chr1:146472023-146472024 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs4086317 | chr1:146472048-146472049 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs9437959 | chr1:146472070-146472071 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs9438005 | chr1:146472071-146472072 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs587756674 | chr1:146472102-146472103 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs371269357 | chr1:146472115-146472116 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs587711867 | chr1:146472127-146472128 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs587596328 | chr1:146472156-146472157 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs75512829 | chr1:146472159-146472160 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs587651068 | chr1:146472163-146472164 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs76037517 | chr1:146472180-146472181 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs185945752 | chr1:146472184-146472185 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs67069694 | chr1:146472185-146472186 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs189144492 | chr1:146472218-146472219 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs28616167 | chr1:146472223-146472224 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs587675665 | chr1:146472231-146472232 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs371958211 | chr1:146472244-146472245 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs587734552 | chr1:146472252-146472253 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs28480353 | chr1:146472255-146472256 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs28479956 | chr1:146472268-146472269 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs7524018 | chr1:146472273-146472274 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs587666732 | chr1:146472282-146472283 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs4445526 | chr1:146472289-146472290 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs201363293 | chr1:146472301-146472302 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs587740617 | chr1:146472312-146472313 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs61805307 | chr1:146472318-146472319 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs373967018 | chr1:146472330-146472331 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs587622016 | chr1:146472337-146472338 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs570739611 | chr1:146472342-146472343 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs376713662 | chr1:146472368-146472369 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs369687150 | chr1:146472369-146472370 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs373456511 | chr1:146472379-146472380 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs7544313 | chr1:146472395-146472396 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs9793148 | chr1:146472408-146472409 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs60631796 | chr1:146472483-146472484 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs59262849 | chr1:146472486-146472487 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs4950406 | chr1:146472487-146472488 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs368464113 | chr1:146472492-146472493 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs60032422 | chr1:146472501-146472502 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs587645772 | chr1:146472530-146472531 | Weak transcription | n/a | n/a | 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 |
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 |
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 |
Tetralogy of Fallot | 22912587 | CNVD |
Bladder cancer | 21909424 | CNVD |
Ovarian clear cell carcinoma | 21343371 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
Breast cancer | 17142309 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Congenital anomalies of the kidney and urinary tract | 20605837 | CNVD |
Breast cancer | 22522925 | CNVD |
Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr1:146459800-146473600 | Weak transcription | IMR90 fetal lung fibroblasts Cell Line | lung |
2 | chr1:146464400-146473200 | Weak transcription | Primary neutrophils fromperipheralblood | blood |
3 | chr1:146464600-146475000 | Weak transcription | Brain Angular Gyrus | brain |
4 | chr1:146465400-146477000 | Weak transcription | Skeletal Muscle Male | skeletal muscle |
5 | chr1:146471600-146472200 | Enhancers | Colon Smooth Muscle | Colon |
6 | chr1:146472800-146473000 | Enhancers | Liver | Liver |
7 | chr1:146473200-146476000 | Weak transcription | Pancreas | Pancrea |
8 | chr1:146473600-146473800 | Enhancers | H1 Derived Mesenchymal Stem Cells | ES cell derived |
9 | chr1:146473600-146473800 | Enhancers | IMR90 fetal lung fibroblasts Cell Line | lung |
10 | chr1:146473600-146473800 | Enhancers | Muscle Satellite Cultured Cells | -- |
11 | chr1:146473600-146473800 | Enhancers | Liver | Liver |
12 | chr1:146473800-146475200 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
13 | chr1:146475200-146475600 | ZNF genes & repeats | H1 Derived Mesenchymal Stem Cells | ES cell derived |
14 | chr1:146475400-146475600 | Enhancers | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
15 | chr1:146476400-146477800 | Enhancers | Primary neutrophils fromperipheralblood | blood |
16 | chr1:146487200-146495000 | Weak transcription | Liver | Liver |
17 | chr1:146489000-146493200 | Weak transcription | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
18 | chr1:146489400-146492800 | Weak transcription | Brain Anterior Caudate | brain |
19 | chr1:146493200-146494800 | Strong transcription | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
20 | chr1:146494800-146504200 | Weak transcription | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
21 | chr1:146501000-146502600 | Enhancers | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
22 | chr1:146501400-146501600 | Enhancers | NHEK | skin |
23 | chr1:146501600-146501800 | Enhancers | Muscle Satellite Cultured Cells | -- |
24 | chr1:146501600-146506800 | Weak transcription | NHEK | skin |
25 | chr1:146502600-146502800 | Enhancers | Primary T helper memory cells from peripheral blood 2 | blood |
26 | chr1:146502600-146503000 | Bivalent Enhancer | HMEC | breast |
27 | chr1:146502800-146503000 | Enhancers | HSMMtube | muscle |
28 | chr1:146502800-146503800 | Weak transcription | Primary T helper memory cells from peripheral blood 2 | blood |
29 | chr1:146503800-146504200 | Enhancers | Primary T helper memory cells from peripheral blood 1 | blood |
30 | chr1:146503800-146504600 | Enhancers | Primary T helper memory cells from peripheral blood 2 | blood |
31 | chr1:146504200-146504400 | Enhancers | Primary T helper 17 cells PMA-I stimulated | -- |
32 | chr1:146504200-146504600 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
33 | chr1:146504600-146508800 | Weak transcription | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
34 | chr1:146506800-146507600 | Enhancers | NHEK | skin |
35 | chr1:146507400-146507800 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |