Variant report
Variant | esv1796925 |
---|---|
Chromosome Location | chr7:153682815-153744947 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:216)
- CpG islands (count:61)
- Chromatin interactive region (count:0)
- LncRNA region (count:6)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr7:153744840-153744890 | GM12892 | blood: | n/a |
2 | chr7:153744840-153744890 | Hepatocyte | liver: | n/a |
3 | chr7:153744840-153744890 | HRPEpiC | eye: | n/a |
4 | chr7:153744840-153744890 | GM19239 | blood: | n/a |
5 | chr7:153744840-153744890 | H1-hESC | embryonic stem cell: | embryo |
6 | chr7:153744840-153744890 | AoSMC | blood vessel: | n/a |
7 | chr7:153744840-153744890 | AG09319 | gingival: | n/a |
8 | chr7:153744840-153744890 | GM12878 | blood: | n/a |
9 | chr7:153744840-153744890 | HCF | heart: | n/a |
10 | chr7:153744840-153744890 | MCF-7 | breast: | n/a |
11 | chr7:153744840-153744890 | HCT-116 | colon: | n/a |
12 | chr7:153744840-153744890 | AG04450 | lung: | fetal |
13 | chr7:153744840-153744890 | HIPEpiC | eye: | n/a |
14 | chr7:153744840-153744890 | AG10803 | skin: | n/a |
15 | chr7:153744840-153744890 | HCM | heart: | n/a |
16 | chr7:153744840-153744890 | HCPEpiC | choroid plexus: | n/a |
17 | chr7:153744840-153744890 | IMR90 | lung: | fetal |
18 | chr7:153744840-153744890 | PrEC | prostate: | n/a |
19 | chr7:153744840-153744890 | K562 | blood: | n/a |
20 | chr7:153744840-153744890 | HRE | kidney: | n/a |
21 | chr7:153744840-153744890 | BE2_C | brain: | n/a |
22 | chr7:153744840-153744890 | NT2-D1 | testis: | n/a |
23 | chr7:153744840-153744890 | SKMC | muscle: | n/a |
24 | chr7:153744840-153744890 | HRCEpiC | kidney: | n/a |
25 | chr7:153744840-153744890 | HUVEC | blood vessel: | n/a |
26 | chr7:153744840-153744890 | HEEpiC | esophagus: | n/a |
27 | chr7:153744840-153744890 | T-47D | breast: | n/a |
28 | chr7:153744840-153744890 | AG04449 | skin: | fetal |
29 | chr7:153744840-153744890 | HepG2 | liver: | n/a |
30 | chr7:153744840-153744890 | ovcar-3 | ovarian: | n/a |
31 | chr7:153744840-153744890 | RPTEC | kidney: | n/a |
32 | chr7:153744840-153744890 | SAEC | small airway: | n/a |
33 | chr7:153744840-153744890 | BJ | skin: | n/a |
34 | chr7:153744840-153744890 | HAEpiC | amniotic membrane: | n/a |
35 | chr7:153744840-153744890 | A549 | lung: | n/a |
36 | chr7:153744840-153744890 | CMK | blood: | n/a |
37 | chr7:153744840-153744890 | Caco-2 | colon: | n/a |
38 | chr7:153744840-153744890 | HPAEpiC | pulmonary alveolar: | n/a |
39 | chr7:153744840-153744890 | SK-N-SH | brain: | n/a |
40 | chr7:153744840-153744890 | SK-N-SH_RA | brain: | n/a |
41 | chr7:153744840-153744890 | Hela-S3 | cervix: | n/a |
42 | chr7:153744840-153744890 | PFSK-1 | brain: | n/a |
43 | chr7:153744840-153744890 | ECC-1 | luminal epithelium: | n/a |
44 | chr7:153744840-153744890 | GM06990 | blood: | n/a |
45 | chr7:153744840-153744890 | ProgFib | skin: | n/a |
46 | chr7:153744840-153744890 | Jurkat | blood: | n/a |
47 | chr7:153744840-153744890 | HEK293 | kidney: | embryo |
48 | chr7:153744840-153744890 | HNPCEpiC | eye: | n/a |
49 | chr7:153744840-153744890 | MCF10A-Er-Src | breast: | n/a |
50 | chr7:153744840-153744890 | NHDF-neo | bronchial: | n/a |
No data |
(count:6 , 50 per page) page:
1
No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-PAXIP1-3 | chr7:153723665-153723775 | ENSG00000203335.3 |
2 | lnc-PAXIP1-3 | chr7:153723372-153723775 | ENSG00000203335.3 |
3 | lnc-PAXIP1-3 | chr7:153735519-153735689 | ENSG00000203335.3 |
4 | lnc-PAXIP1-3 | chr7:153724009-153724133 | ENSG00000203335.3 |
5 | lnc-PAXIP1-3 | chr7:153721094-153721199 | ENSG00000203335.3 |
6 | lnc-PAXIP1-3 | chr7:153724009-153724131 | ENSG00000203335.3 |
No data |
No data |
Variant related genes | Relation type |
---|---|
DPP6 | TF binding region |
ENSG00000270114 | TF binding region |
DPP6 | CpG island |
ENSG00000270114 | CpG island |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs569260096 | chr7:153685602-153685603 | Bivalent Enhancer Flanking Bivalent TSS/Enh | n/a | n/a | Overlapped CNVs | n/a |
2 | rs116511594 | chr7:153685624-153685625 | Bivalent Enhancer Flanking Bivalent TSS/Enh | n/a | n/a | Overlapped CNVs | n/a |
3 | rs199601665 | chr7:153685635-153685636 | Bivalent Enhancer Flanking Bivalent TSS/Enh | n/a | n/a | Overlapped CNVs | n/a |
4 | rs540818121 | chr7:153685636-153685637 | Bivalent Enhancer Flanking Bivalent TSS/Enh | n/a | n/a | Overlapped CNVs | n/a |
5 | rs553148631 | chr7:153685688-153685689 | Bivalent Enhancer Flanking Bivalent TSS/Enh | n/a | n/a | Overlapped CNVs | n/a |
6 | rs2907723 | chr7:153685698-153685699 | Bivalent Enhancer Flanking Bivalent TSS/Enh | n/a | n/a | Overlapped CNVs | n/a |
7 | rs574481369 | chr7:153685701-153685702 | Bivalent Enhancer Flanking Bivalent TSS/Enh | n/a | n/a | Overlapped CNVs | n/a |
8 | rs541522207 | chr7:153685728-153685729 | Bivalent Enhancer Flanking Bivalent TSS/Enh | n/a | n/a | Overlapped CNVs | n/a |
9 | rs563312730 | chr7:153685737-153685738 | Bivalent Enhancer Flanking Bivalent TSS/Enh | n/a | n/a | Overlapped CNVs | n/a |
10 | rs530399215 | chr7:153685771-153685772 | Bivalent Enhancer Flanking Bivalent TSS/Enh | n/a | n/a | Overlapped CNVs | n/a |
11 | rs561817981 | chr7:153686804-153686805 | Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
12 | rs2533614 | chr7:153686824-153686825 | Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
13 | rs143677079 | chr7:153686839-153686840 | Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
14 | rs191045783 | chr7:153686843-153686844 | Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
15 | rs562653432 | chr7:153686848-153686849 | Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
16 | rs11767297 | chr7:153686862-153686863 | Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
17 | rs551867704 | chr7:153686866-153686867 | Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
18 | rs560496765 | chr7:153686867-153686868 | Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
19 | rs527666326 | chr7:153686881-153686882 | Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
20 | rs534952910 | chr7:153686883-153686884 | Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
21 | rs549685406 | chr7:153686904-153686905 | Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
22 | rs182393655 | chr7:153686908-153686909 | Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
23 | rs375495201 | chr7:153686910-153686911 | Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
24 | rs188326461 | chr7:153686920-153686921 | Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
25 | rs550110532 | chr7:153686921-153686922 | Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
26 | rs2907722 | chr7:153686955-153686956 | Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
27 | rs553533444 | chr7:153686969-153686970 | Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
28 | rs531776112 | chr7:153702227-153702228 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs141064542 | chr7:153702244-153702245 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs550305162 | chr7:153702304-153702305 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs12112278 | chr7:153702330-153702331 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs532846188 | chr7:153702347-153702348 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs551370379 | chr7:153702372-153702373 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs566314877 | chr7:153702379-153702380 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs184777560 | chr7:153702395-153702396 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs188098467 | chr7:153702396-153702397 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs567507945 | chr7:153702427-153702428 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
38 | rs538036788 | chr7:153702484-153702485 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
39 | rs556037695 | chr7:153702489-153702490 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
40 | rs536896629 | chr7:153702519-153702520 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
41 | rs113247995 | chr7:153702552-153702553 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
42 | rs538724416 | chr7:153702702-153702703 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
43 | rs554161860 | chr7:153702722-153702723 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
44 | rs572087946 | chr7:153702724-153702725 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
45 | rs542952035 | chr7:153702732-153702733 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
46 | rs139556874 | chr7:153702737-153702738 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
47 | rs576278904 | chr7:153702775-153702776 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
48 | rs192932757 | chr7:153702844-153702845 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
49 | rs565300363 | chr7:153702873-153702874 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
50 | rs71265441 | chr7:153702893-153702894 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Esophageal squamous carcinoma | 21637470 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Thyroid cancer | 19087340 | CNVD |
Seminomas | 18059402 | CNVD |
Testicular cancer | 18059402 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Autism | 19415332 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Pleomorphic xanthoastrocytoma | 20730472 | CNVD |
T-cell lymphomas | 19863542 | CNVD |
Malaria | 21533027 | CNVD |
Melanoma | 18172304 | CNVD |
Renal cell carcinoma | 19461508 | CNVD |
head and neck squamous cell carcinoma | 19289630 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Wilms tumour | 21544195 | CNVD |
Squamous cell cancer | 21044232 | CNVD |
Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
Astrocytoma | 17387387 | CNVD |
Glioblastoma multiforme | 17387387 | CNVD |
Low-grade fibromyxoid sarcoma | 0 | CNVD |
Oligodendroglial tumors | 17285580 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Burkitt''s lymphoma | 18698080 | CNVD |
Breast cancer | 21264507 | CNVD |
Shwachman-Diamond syndrome | 22934832 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Cutaneous malignant melanoma | 17690212 | CNVD |
Leukemia | 17361228 | CNVD |
Breast cancer | 16461572 | CNVD |
Peripheral t-cell lymphoma | 19118030 | CNVD |
Malignant melanoma | 17690212 | CNVD |
Renal cell carcinoma | 18592004 | CNVD |
Acute promyelocytic leukemia | 19109227 | CNVD |
Multiple myeloma | 17550852 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Neurodevelopmental disorder | 22521361 | CNVD |
abortions and stillbirths | 19751515 | CNVD |
Acute lymphoblastic leukemia | 21980252 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Non-syndromic sensorineural hearing loss | 21987784 | CNVD |
Burkitt''s lymphoma | 19759907 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
Prostate cancer | 16573809 | CNVD |
Medulloblastoma | 16783165 | CNVD |
abnormal development | 18461090 | CNVD |
T-cell acute lymphoblastic leukemia | 18185524 | CNVD |
Papillary thyroid carcinoma | 21436994 | CNVD |
Lung cancer | 18438408 | CNVD |
Non-syndromic sensorineural hearing loss | 18496225 | CNVD |
Hodgkin''s lymphoma | 18179710 | CNVD |
Breast cancer | 17603634 | CNVD |
Urothelial carcinoma | 18382360 | CNVD |
Myelodysplastic syndrome | 17634407 | CNVD |
Multiple myeloma | 16461302 | CNVD |
Neuroblastoma | 18923191 | CNVD |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Autism | 20808228 | CNVD |
Ovarian cancer | 21720365 | CNVD |
Lobular carcinoma | 20920651 | CNVD |
Long-qt syndrome | 20920651 | CNVD |
Malignant fibrous histiocytomas | 21085701 | CNVD |
Sudden cardiac death | 19188705 | CNVD |
renal disease | 17924346 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Nasopharyngeal cancer | 20548289 | CNVD |
Splenic marginal zone lymphoma | 18492102 | CNVD |
Amyotrophic lateral sclerosis | 20685689 | CNVD |
Autism | 19546859 | CNVD |
Schizophrenia | 19546859 | CNVD |
Tourette syndrome | 19546859 | CNVD |
Breast cancer | 21509527 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Congenital anomalies of the kidney and urinary tract | 20605837 | CNVD |
Breast cancer | 22522925 | CNVD |
Autism | 22102821 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Autism | 22495309 | CNVD |
Chordoma | 21215367 | CNVD |
early-passage human iPS cells | 21368824 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr7:153685600-153685800 | Bivalent Enhancer | Fetal Adrenal Gland | Adrenal Gland |
2 | chr7:153685600-153685800 | Flanking Bivalent TSS/Enh | Fetal Muscle Trunk | muscle |
3 | chr7:153686800-153687000 | Bivalent Enhancer | ES-I3 Cell Line | embryonic stem cell |
4 | chr7:153702200-153705200 | Enhancers | Fetal Muscle Leg | muscle |
5 | chr7:153705200-153708000 | Weak transcription | Fetal Muscle Leg | muscle |
6 | chr7:153706600-153708800 | Enhancers | Skeletal Muscle Male | skeletal muscle |
7 | chr7:153708000-153708600 | Enhancers | Fetal Muscle Leg | muscle |
8 | chr7:153708200-153708600 | Enhancers | Skeletal Muscle Female | skeletal muscle |
9 | chr7:153708400-153708600 | Enhancers | Psoas Muscle | Psoas |
10 | chr7:153708600-153711000 | Weak transcription | Skeletal Muscle Female | skeletal muscle |
11 | chr7:153708600-153717800 | Weak transcription | Fetal Muscle Leg | muscle |
12 | chr7:153708800-153710000 | Weak transcription | Psoas Muscle | Psoas |
13 | chr7:153710000-153710400 | Enhancers | Psoas Muscle | Psoas |
14 | chr7:153711000-153711200 | Enhancers | Skeletal Muscle Female | skeletal muscle |
15 | chr7:153717800-153718600 | Enhancers | Fetal Muscle Leg | muscle |
16 | chr7:153718600-153719600 | Weak transcription | Fetal Muscle Leg | muscle |
17 | chr7:153719600-153719800 | Enhancers | Fetal Muscle Leg | muscle |
18 | chr7:153719800-153727000 | Weak transcription | Fetal Muscle Leg | muscle |
19 | chr7:153723600-153723800 | Enhancers | Fetal Adrenal Gland | Adrenal Gland |
20 | chr7:153723800-153725000 | Weak transcription | Fetal Adrenal Gland | Adrenal Gland |
21 | chr7:153725000-153725400 | Enhancers | Fetal Adrenal Gland | Adrenal Gland |
22 | chr7:153726400-153727600 | Enhancers | Fetal Muscle Trunk | muscle |
23 | chr7:153727000-153729200 | Enhancers | Fetal Muscle Leg | muscle |