Variant report
Variant | esv1809382 |
---|---|
Chromosome Location | chr8:6824659-6880868 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:69)
- CpG islands (count:676)
- Chromatin interactive region (count:2)
- LncRNA region (count:7)
- 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 | ATF1 | chr8:6829807-6830004 | K562 | blood: | n/a | n/a |
2 | BACH1 | chr8:6829927-6829940 | H1-hESC | embryonic stem cell: | n/a | n/a |
3 | BHLHE40 | chr8:6825706-6825903 | K562 | blood: | n/a | chr8:6825850-6825859 chr8:6825848-6825857 chr8:6825847-6825860 chr8:6825849-6825858 chr8:6825843-6825864 chr8:6825849-6825858 |
4 | CEBPB | chr8:6872820-6873018 | HepG2 | liver: | n/a | chr8:6872838-6872849 chr8:6872837-6872848 |
5 | CTCF | chr8:6850725-6850800 | Lung_OC | lung: | n/a | n/a |
6 | CTCF | chr8:6833327-6833368 | Kidney_OC | kidney: | n/a | n/a |
7 | CTCF | chr8:6868755-6868819 | GM13976 | blood: | n/a | n/a |
8 | CTCF | chr8:6829826-6829954 | LNCaP | prostate: | n/a | n/a |
9 | CTCF | chr8:6829829-6829883 | LNCaP | prostate: | n/a | n/a |
10 | CTCF | chr8:6863352-6863389 | GM13977 | blood: | n/a | n/a |
11 | CTCF | chr8:6829420-6829509 | LNCaP | prostate: | n/a | n/a |
12 | CTCF | chr8:6830796-6830848 | Lung_OC | lung: | n/a | n/a |
13 | CTCF | chr8:6827997-6828044 | Gliobla | brain: | n/a | n/a |
14 | CTCF | chr8:6827996-6828116 | H1-hESC | embryonic stem cell: | n/a | n/a |
15 | CTCF | chr8:6827960-6828110 | K562 | blood: | n/a | n/a |
16 | CTCF | chr8:6827880-6828030 | HEK293 | kidney: | n/a | chr8:6827881-6827890 chr8:6827923-6827930 |
17 | CTCF | chr8:6830206-6830256 | Kidney_OC | kidney: | n/a | n/a |
18 | CTCF | chr8:6832055-6832125 | GM13976 | blood: | n/a | n/a |
19 | CTCF | chr8:6870668-6870718 | Lung_OC | lung: | n/a | n/a |
20 | CTCF | chr8:6828040-6828190 | HepG2 | liver: | n/a | n/a |
21 | CTCF | chr8:6841333-6841432 | GM10248 | blood: | n/a | n/a |
22 | CTCF | chr8:6876641-6876732 | GM13976 | blood: | n/a | n/a |
23 | CTCF | chr8:6828045-6828050 | Gliobla | brain: | n/a | n/a |
24 | CTCF | chr8:6875862-6875906 | Kidney_OC | kidney: | n/a | n/a |
25 | CTCF | chr8:6827929-6828105 | H1-hESC | embryonic stem cell: | n/a | n/a |
26 | ELF1 | chr8:6826345-6826676 | GM12878 | blood: | n/a | n/a |
27 | FOS | chr8:6829914-6829972 | MCF10A-Er-Src | breast: | n/a | n/a |
28 | GABPA | chr8:6878604-6878734 | Hela-S3 | cervix: | n/a | n/a |
29 | JUN | chr8:6829481-6830053 | K562 | blood: | n/a | n/a |
30 | JUN | chr8:6829918-6830101 | K562 | blood: | n/a | n/a |
31 | JUND | chr8:6829868-6829984 | H1-hESC | embryonic stem cell: | n/a | n/a |
32 | JUND | chr8:6829930-6830012 | HepG2 | liver: | n/a | n/a |
33 | JUND | chr8:6829764-6829956 | H1-hESC | embryonic stem cell: | n/a | n/a |
34 | JUND | chr8:6829760-6830100 | K562 | blood: | n/a | n/a |
35 | KAP1 | chr8:6829741-6830106 | HEK293 | kidney: | n/a | n/a |
36 | KAP1 | chr8:6829739-6830136 | U2OS | brain: | n/a | n/a |
37 | MAFF | chr8:6825520-6825751 | HepG2 | liver: | n/a | chr8:6825656-6825674 |
38 | MAFF | chr8:6829846-6829893 | HepG2 | liver: | n/a | n/a |
39 | MAFF | chr8:6825659-6825678 | K562 | blood: | n/a | n/a |
40 | MAFK | chr8:6829787-6829987 | HepG2 | liver: | n/a | chr8:6829896-6829907 chr8:6829896-6829907 chr8:6829891-6829906 |
41 | MAFK | chr8:6825552-6825788 | IMR90 | lung: | n/a | n/a |
42 | MAFK | chr8:6829763-6829959 | H1-hESC | embryonic stem cell: | n/a | chr8:6829896-6829907 chr8:6829896-6829907 chr8:6829891-6829906 |
43 | MAFK | chr8:6825667-6825713 | H1-hESC | embryonic stem cell: | n/a | n/a |
44 | MAFK | chr8:6825499-6825829 | HepG2 | liver: | n/a | n/a |
45 | MAFK | chr8:6829943-6829957 | Hela-S3 | cervix: | n/a | n/a |
46 | MAFK | chr8:6829930-6829935 | HepG2 | liver: | n/a | n/a |
47 | MAFK | chr8:6825571-6825794 | HepG2 | liver: | n/a | n/a |
48 | MYC | chr8:6824687-6824705 | H1-hESC | embryonic stem cell: | n/a | n/a |
49 | MYC | chr8:6824713-6824802 | H1-hESC | embryonic stem cell: | n/a | n/a |
50 | POLR2A | chr8:6845727-6845752 | MCF-7 | breast: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr8:6827800-6827850 | AG04449 | skin: | fetal |
2 | chr8:6826392-6826442 | HIPEpiC | eye: | n/a |
3 | chr8:6826392-6826442 | Jurkat | blood: | n/a |
4 | chr8:6837932-6837982 | NHDF-neo | bronchial: | n/a |
5 | chr8:6826392-6826442 | PrEC | prostate: | n/a |
6 | chr8:6827800-6827850 | AG04449 | skin: | fetal |
7 | chr8:6826392-6826442 | HIPEpiC | eye: | n/a |
8 | chr8:6826392-6826442 | Jurkat | blood: | n/a |
9 | chr8:6837932-6837982 | NHDF-neo | bronchial: | n/a |
10 | chr8:6826392-6826442 | PrEC | prostate: | n/a |
11 | chr8:6827800-6827850 | HRCEpiC | kidney: | n/a |
12 | chr8:6827800-6827850 | SK-N-MC | brain: | n/a |
13 | chr8:6826392-6826442 | K562 | blood: | n/a |
14 | chr8:6827814-6827864 | AG09309 | skin: | n/a |
15 | chr8:6873754-6873804 | GM12878 | blood: | n/a |
16 | chr8:6837932-6837982 | Hela-S3 | cervix: | n/a |
17 | chr8:6876781-6876831 | PrEC | prostate: | n/a |
18 | chr8:6826392-6826442 | HEK293 | kidney: | embryo |
19 | chr8:6837932-6837982 | AG04449 | skin: | fetal |
20 | chr8:6875661-6875711 | Caco-2 | colon: | n/a |
21 | chr8:6876155-6876205 | Hepatocyte | liver: | n/a |
22 | chr8:6873754-6873804 | AG10803 | skin: | n/a |
23 | chr8:6828103-6828153 | HepG2 | liver: | n/a |
24 | chr8:6827800-6827850 | AG04450 | lung: | fetal |
25 | chr8:6828103-6828153 | PrEC | prostate: | n/a |
26 | chr8:6876155-6876205 | ProgFib | skin: | n/a |
27 | chr8:6826392-6826442 | SK-N-SH | brain: | n/a |
28 | chr8:6826392-6826442 | LNCaP | prostate: | n/a |
29 | chr8:6875661-6875711 | HRPEpiC | eye: | n/a |
30 | chr8:6876695-6876745 | Caco-2 | colon: | n/a |
31 | chr8:6875661-6875711 | HRE | kidney: | n/a |
32 | chr8:6838024-6838074 | SAEC | small airway: | n/a |
33 | chr8:6876155-6876205 | HCM | heart: | n/a |
34 | chr8:6876781-6876831 | HMEC | breast: | n/a |
35 | chr8:6826392-6826442 | MCF-7 | breast: | n/a |
36 | chr8:6837932-6837982 | BJ | skin: | n/a |
37 | chr8:6876781-6876831 | GM12878 | blood: | n/a |
38 | chr8:6876695-6876745 | HCT-116 | colon: | n/a |
39 | chr8:6875661-6875711 | A549 | lung: | n/a |
40 | chr8:6827814-6827864 | SAEC | small airway: | n/a |
41 | chr8:6827800-6827850 | HL-60 | blood: | n/a |
42 | chr8:6876781-6876831 | NHBE | bronchial: | n/a |
43 | chr8:6875661-6875711 | NHBE | bronchial: | n/a |
44 | chr8:6876695-6876745 | HPAEpiC | pulmonary alveolar: | n/a |
45 | chr8:6827814-6827864 | H1-hESC | embryonic stem cell: | embryo |
46 | chr8:6827800-6827850 | NHDF-neo | bronchial: | n/a |
47 | chr8:6876781-6876831 | MCF10A-Er-Src | breast: | n/a |
48 | chr8:6837932-6837982 | H1-hESC | embryonic stem cell: | embryo |
49 | chr8:6828103-6828153 | GM12878 | blood: | n/a |
50 | chr8:6873754-6873804 | HEK293 | kidney: | embryo |
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-DEFA1B-1 | chr8:6845622-6845808 | NONHSAT124804 |
2 | lnc-DEFA1-1 | chr8:6825663-6825775 | NONHSAT124803 |
3 | lnc-DEFA1-1 | chr8:6826461-6826635 | NONHSAT124803 |
4 | lnc-DEFA1-1 | chr8:6826452-6826635 | NONHSAT124802 |
5 | lnc-DEFA1-1 | chr8:6825663-6825769 | NONHSAT124802 |
6 | lnc-DEFA1B-1 | chr8:6844700-6844945 | NONHSAT124804 |
7 | lnc-DEFA1B-1 | chr8:6847181-6847243 | NONHSAT124804 |
No data |
No data |
Variant related genes | Relation type |
---|---|
DEFA3 | TF binding region |
DEFT1P | TF binding region |
DEFA1B | TF binding region |
DEFT1P2 | TF binding region |
DEFA10P | TF binding region |
DEFA1 | TF binding region |
DEFA3 | CpG island |
DEFT1P | CpG island |
DEFA1B | CpG island |
DEFT1P2 | CpG island |
DEFA10P | CpG island |
DEFA1 | CpG island |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs369373900 | chr8:6824674-6824675 | Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs562363869 | chr8:6824678-6824679 | Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs138540540 | chr8:6824682-6824683 | Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs548091370 | chr8:6824683-6824684 | Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs561691923 | chr8:6824724-6824725 | Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs182814408 | chr8:6824746-6824747 | Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs554803807 | chr8:6824774-6824775 | Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs547399957 | chr8:6824778-6824779 | Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs570415065 | chr8:6824809-6824810 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs17381964 | chr8:6824812-6824813 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
11 | rs550348404 | chr8:6824820-6824821 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs570270327 | chr8:6824821-6824822 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs17078427 | chr8:6824829-6824830 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
14 | rs556092154 | chr8:6824848-6824849 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs141408547 | chr8:6824851-6824852 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs532266751 | chr8:6824855-6824856 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs545879016 | chr8:6824861-6824862 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs559093664 | chr8:6824866-6824867 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs188729952 | chr8:6824868-6824869 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs578014375 | chr8:6824885-6824886 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs192849897 | chr8:6824891-6824892 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs184265275 | chr8:6824893-6824894 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs117613866 | chr8:6824894-6824895 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs557428361 | chr8:6824905-6824906 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs541671745 | chr8:6824928-6824929 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs561628010 | chr8:6824933-6824934 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs76698496 | chr8:6824941-6824942 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs546519637 | chr8:6824949-6824950 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs145142658 | chr8:6824984-6824985 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs564109619 | chr8:6824992-6824993 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs532845974 | chr8:6824993-6824994 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs549892197 | chr8:6825025-6825026 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs569814812 | chr8:6825040-6825041 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs529486942 | chr8:6825053-6825054 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs375932883 | chr8:6825061-6825062 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs560046503 | chr8:6825079-6825080 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs547871811 | chr8:6825085-6825086 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
38 | rs549631607 | chr8:6825086-6825087 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
39 | rs568774954 | chr8:6825104-6825105 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
40 | rs189460043 | chr8:6825109-6825110 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
41 | rs535351489 | chr8:6825124-6825125 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
42 | rs531096552 | chr8:6825132-6825133 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
43 | rs557820045 | chr8:6825141-6825142 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
44 | rs571625929 | chr8:6825152-6825153 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
45 | rs11993788 | chr8:6825168-6825169 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
46 | rs149391342 | chr8:6825189-6825190 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
47 | rs192457234 | chr8:6825204-6825205 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
48 | rs541610874 | chr8:6825216-6825217 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
49 | rs373823714 | chr8:6825230-6825231 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
50 | rs555556721 | chr8:6825232-6825233 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Ovarian clear cell carcinoma | 21343371 | CNVD |
abnormal development | 18461090 | CNVD |
Crohn''s disease | 19220326 | CNVD |
Psoriasis | 19220326 | CNVD |
Prostate cancer | 21965145 | CNVD |
Prostate cancer | 18515986 | CNVD |
Chronic obstructive pulmonary disease | 20378733 | CNVD |
Autism | 18414403 | CNVD |
Cancer | 21183584 | CNVD |
Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
Breast cancer | 17603634 | CNVD |
Myeloproliferative neoplasm | 20015882 | CNVD |
Ovarian cancer | 20844748 | CNVD |
Cervical cancer | 17311676 | CNVD |
High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
Non-syndromic sensorineural hearing loss | 20606397 | CNVD |
Schizophrenia | 20877625 | CNVD |
Disorders of sex development | 21048976 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Basal cell lymphoma | 17170743 | CNVD |
Follicular lymphoma | 17170743 | CNVD |
Breast cancer | 17001317 | CNVD |
Thyroid cancer | 19087340 | CNVD |
Multiple myeloma | 16616336 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Heart disease | 21282601 | CNVD |
Prostate cancer | 16573809 | CNVD |
T-cell lymphomas | 19863542 | CNVD |
Ovarian cancer | 22174824 | CNVD |
Colorectal cancer | 21297112 | CNVD |
Hodgkin''s lymphoma | 18641027 | CNVD |
Salivary gland tumor | 18059337 | CNVD |
Breast cancer | 17133270 | CNVD |
Melanoma | 18172304 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Chronic lymphocytic leukemia | 18922857 | CNVD |
Breast cancer | 17393978 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Cancer | 21637783 | CNVD |
Breast cancer | 20837533 | CNVD |
Squamous cell cancer | 21044232 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Cancer | 22429812 | CNVD |
Non-small cell lung cancer | 21044232 | CNVD |
Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Colorectal cancer | 20709793 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Basal cell lymphoma | 21115979 | CNVD |
Breast cancer | 21264507 | CNVD |
Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Oral cancer | 21386901 | CNVD |
Prostate cancer | 21088497 | CNVD |
Breast cancer | 20940404 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Embryonal rhabdomyosarcoma | 16790082 | CNVD |
Gastric cancer | 17167181 | CNVD |
Prostate cancer | 16705090 | CNVD |
8p-syndrome | 17576883 | CNVD |
Human rectal carcinomas | 16397240 | CNVD |
Medulloblastoma | 16968546 | CNVD |
Lung adenocarcinoma | 19525976 | CNVD |
Lung cancer | 19525976 | CNVD |
Prostate cancer | 17245344 | CNVD |
Gastrointestinal stromal cancer | 16982739 | CNVD |
Cancer | 16751803 | CNVD |
Wilms tumour | 21544195 | CNVD |
Gastric cancer | 17908304 | CNVD |
Autism | 19415332 | CNVD |
Malaria | 21533027 | CNVD |
Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
Esophageal cancer | 21851588 | CNVD |
Acute promyelocytic leukemia | 19109227 | CNVD |
Breast cancer | 21245420 | CNVD |
Acute lymphoblastic leukemia | 21248843 | CNVD |
Breast cancer | 21785460 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Breast cancer | 21509527 | CNVD |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Epilepsy | 22083797 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
low-grade B-cell lymphoma tumor | 18367492 | CNVD |
Prostate cancer | 18632612 | CNVD |
Breast cancer | 21858162 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Liver carcinoma | 19366792 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Congenital diaphragmatic hernia | 21064195 | CNVD |
Autism | 22495311 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Intellectual disability | 22045946 | CNVD |
Malignant fibrous histiocytomas | 21085701 | CNVD |
Breast cancer | 16608533 | CNVD |
Seminomas | 18059402 | CNVD |
Lung cancer | 18438408 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Colorectal cancer | 16774939 | CNVD |
Breast cancer | 21364760 | CNVD |
Lung squamous cell carcinoma | 22363434 | CNVD |
Cancer | 20164919 | CNVD |
Medulloblastoma | 16783165 | CNVD |
Gastric cancer | 18160780 | CNVD |
Breast cancer | 21990379 | CNVD |
Psoriasis | 20403174 | CNVD |
Psoriasis | 20663923 | CNVD |
Crohn''s disease | 16909382 | CNVD |
Cancer | 21129771 | CNVD |
Congenital diaphragmatic hernia | 21085971 | CNVD |
Crohn''s disease | 20877625 | CNVD |
Inflammatory disorder | 20877625 | CNVD |
Cardiac defect | 21933911 | CNVD |
Psoriasis | 18059266 | CNVD |
Barrett''s adenocarcinoma | 18663352 | CNVD |
Psoriasis | 20877625 | CNVD |
Mental retardation | 17847001 | CNVD |
Prostate cancer | 17217626 | CNVD |
Schizophrenia | 21399695 | CNVD |
Colorectal cancer | 21128281 | CNVD |
Colorectal cancer | 19455253 | CNVD |
Psoriasis | 18848619 | CNVD |
Squamous cell cancer | 19047905 | CNVD |
Colorectal cancer | 17229543 | CNVD |
Gastrointestinal stromal cancer | 19259404 | CNVD |
Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
Bladder cancer | 21909424 | CNVD |
Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
Cognitive impairment | 21505072 | CNVD |
Breast cancer | 17142309 | CNVD |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
Non-syndromic sensorineural hearing loss | 21030649 | CNVD |
Breast cancer | 22522925 | CNVD |
Autism | 21865298 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Behcet''s disease | 22219625 | CNVD |
Crohn''s disease | 21701837 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr8:6794600-6829200 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
2 | chr8:6822800-6830000 | Enhancers | Primary neutrophils fromperipheralblood | blood |
3 | chr8:6824000-6824800 | Bivalent Enhancer | Primary monocytes fromperipheralblood | blood |
4 | chr8:6824400-6824800 | Bivalent Enhancer | Monocytes-CD14+_RO01746 | blood |
5 | chr8:6824600-6824800 | ZNF genes & repeats | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
6 | chr8:6824600-6828200 | Weak transcription | H1 Cell Line | embryonic stem cell |
7 | chr8:6824800-6829200 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
8 | chr8:6826400-6826600 | Enhancers | Foreskin Keratinocyte Primary Cells skin02 | Skin |
9 | chr8:6826400-6826800 | Bivalent Enhancer | Primary monocytes fromperipheralblood | blood |
10 | chr8:6826400-6826800 | Enhancers | Primary T cells fromperipheralblood | blood |
11 | chr8:6826400-6826800 | Bivalent Enhancer | Primary Natural Killer cells fromperipheralblood | blood |
12 | chr8:6826400-6826800 | Bivalent Enhancer | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
13 | chr8:6826400-6827000 | Bivalent Enhancer | Primary B cells from peripheral blood | blood |
14 | chr8:6826600-6826800 | Bivalent Enhancer | Monocytes-CD14+_RO01746 | blood |
15 | chr8:6828200-6828600 | Enhancers | H1 Cell Line | embryonic stem cell |
16 | chr8:6828200-6828600 | Enhancers | Foreskin Keratinocyte Primary Cells skin02 | Skin |
17 | chr8:6828400-6828600 | Enhancers | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
18 | chr8:6828600-6829600 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
19 | chr8:6829200-6829400 | Active TSS | iPS DF 19.11 Cell Line | embryonic stem cell |
20 | chr8:6829200-6829400 | Enhancers | Right Ventricle | heart |
21 | chr8:6829200-6830200 | Enhancers | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
22 | chr8:6829600-6830000 | Enhancers | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
23 | chr8:6829600-6830000 | Enhancers | Fetal Brain Male | brain |
24 | chr8:6829600-6830200 | Enhancers | hESC Derived CD56+ Mesoderm Cultured Cells | ES cell derived |
25 | chr8:6829800-6830000 | Enhancers | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
26 | chr8:6830000-6833000 | Weak transcription | Primary neutrophils fromperipheralblood | blood |
27 | chr8:6831000-6831200 | Enhancers | Primary mononuclear cells fromperipheralblood | Blood |
28 | chr8:6833000-6833600 | Enhancers | Primary neutrophils fromperipheralblood | blood |
29 | chr8:6833600-6837800 | Weak transcription | Primary neutrophils fromperipheralblood | blood |
30 | chr8:6837800-6838200 | Enhancers | Primary neutrophils fromperipheralblood | blood |
31 | chr8:6838200-6840600 | Weak transcription | Primary neutrophils fromperipheralblood | blood |
32 | chr8:6840600-6841800 | Enhancers | Primary neutrophils fromperipheralblood | blood |
33 | chr8:6856800-6857400 | Enhancers | Primary neutrophils fromperipheralblood | blood |
34 | chr8:6863200-6866800 | Weak transcription | Primary neutrophils fromperipheralblood | blood |
35 | chr8:6867000-6871800 | Weak transcription | Primary neutrophils fromperipheralblood | blood |
36 | chr8:6871800-6873000 | Enhancers | Primary neutrophils fromperipheralblood | blood |
37 | chr8:6872400-6872600 | Enhancers | Primary hematopoietic stem cells | blood |
38 | chr8:6873000-6873400 | Weak transcription | Primary neutrophils fromperipheralblood | blood |
39 | chr8:6873400-6884600 | Enhancers | Primary neutrophils fromperipheralblood | blood |
40 | chr8:6879800-6881200 | Enhancers | Dnd41 | blood |