Variant report
Variant | esv1844673 |
---|---|
Chromosome Location | chr11:4960613-4977065 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:18)
- CpG islands (count:122)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:18 , 50 per page) page:
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No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | CCNT2 | chr11:4964325-4964404 | K562 | blood: | n/a | n/a |
2 | CTCF | chr11:4968209-4968232 | GM13976 | blood: | n/a | n/a |
3 | CTCF | chr11:4968105-4968165 | GM13977 | blood: | n/a | n/a |
4 | E2F4 | chr11:4968807-4969062 | MCF10A-Er-Src | breast: | n/a | n/a |
5 | FOS | chr11:4972687-4972856 | HUVEC | blood vessel: | n/a | n/a |
6 | MAFK | chr11:4963732-4964011 | HepG2 | liver: | n/a | n/a |
7 | MXI1 | chr11:4966553-4966586 | GM12878 | blood: | n/a | n/a |
8 | POLR2A | chr11:4971691-4971713 | MCF10A-Er-Src | breast: | n/a | n/a |
9 | POLR2A | chr11:4968696-4968712 | MCF10A-Er-Src | breast: | n/a | n/a |
10 | POLR2A | chr11:4976117-4976238 | Gliobla | brain: | n/a | n/a |
11 | POLR2A | chr11:4970236-4970356 | MCF10A-Er-Src | breast: | n/a | n/a |
12 | POLR2A | chr11:4972318-4972755 | H1-neurons | neurons: | n/a | n/a |
13 | POLR2A | chr11:4961274-4961285 | MCF10A-Er-Src | breast: | n/a | n/a |
14 | POLR2A | chr11:4963376-4963576 | MCF10A-Er-Src | breast: | n/a | n/a |
15 | RFX5 | chr11:4972790-4972792 | K562 | blood: | n/a | n/a |
16 | RFX5 | chr11:4973587-4973657 | K562 | blood: | n/a | n/a |
17 | STAT3 | chr11:4971311-4971511 | MCF10A-Er-Src | breast: | n/a | n/a |
18 | ZNF384 | chr11:4963238-4963526 | K562 | blood: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr11:4977001-4977051 | U87 | brain: | n/a |
2 | chr11:4976263-4976313 | Hela-S3 | cervix: | n/a |
3 | chr11:4977001-4977051 | PANC-1 | pancreas: | n/a |
4 | chr11:4976263-4976313 | CMK | blood: | n/a |
5 | chr11:4977001-4977051 | HRCEpiC | kidney: | n/a |
6 | chr11:4976263-4976313 | H1-hESC | embryonic stem cell: | embryo |
7 | chr11:4976263-4976313 | A549 | lung: | n/a |
8 | chr11:4976263-4976313 | SAEC | small airway: | n/a |
9 | chr11:4977001-4977051 | RPTEC | kidney: | n/a |
10 | chr11:4976263-4976313 | Caco-2 | colon: | n/a |
11 | chr11:4976263-4976313 | K562 | blood: | n/a |
12 | chr11:4977001-4977051 | GM12878 | blood: | n/a |
13 | chr11:4977001-4977051 | AG10803 | skin: | n/a |
14 | chr11:4977001-4977051 | MCF10A-Er-Src | breast: | n/a |
15 | chr11:4976263-4976313 | NT2-D1 | testis: | n/a |
16 | chr11:4976263-4976313 | PrEC | prostate: | n/a |
17 | chr11:4976263-4976313 | BE2_C | brain: | n/a |
18 | chr11:4977001-4977051 | HMEC | breast: | n/a |
19 | chr11:4977001-4977051 | NH-A | brain: | n/a |
20 | chr11:4976263-4976313 | HUVEC | blood vessel: | n/a |
21 | chr11:4977001-4977051 | AG04450 | lung: | fetal |
22 | chr11:4977001-4977051 | SK-N-SH | brain: | n/a |
23 | chr11:4977001-4977051 | HEK293 | kidney: | embryo |
24 | chr11:4977001-4977051 | SK-N-SH_RA | brain: | n/a |
25 | chr11:4976263-4976313 | AG10803 | skin: | n/a |
26 | chr11:4976263-4976313 | U87 | brain: | n/a |
27 | chr11:4976263-4976313 | HL-60 | blood: | n/a |
28 | chr11:4977001-4977051 | Hepatocyte | liver: | n/a |
29 | chr11:4976263-4976313 | ProgFib | skin: | n/a |
30 | chr11:4977001-4977051 | PrEC | prostate: | n/a |
31 | chr11:4976263-4976313 | PFSK-1 | brain: | n/a |
32 | chr11:4976263-4976313 | HAEpiC | amniotic membrane: | n/a |
33 | chr11:4977001-4977051 | HRE | kidney: | n/a |
34 | chr11:4977001-4977051 | H1-hESC | embryonic stem cell: | embryo |
35 | chr11:4977001-4977051 | NT2-D1 | testis: | n/a |
36 | chr11:4976263-4976313 | AoSMC | blood vessel: | n/a |
37 | chr11:4977001-4977051 | HUVEC | blood vessel: | n/a |
38 | chr11:4976263-4976313 | HCM | heart: | n/a |
39 | chr11:4977001-4977051 | HCPEpiC | choroid plexus: | n/a |
40 | chr11:4976263-4976313 | HNPCEpiC | eye: | n/a |
41 | chr11:4976263-4976313 | ovcar-3 | ovarian: | n/a |
42 | chr11:4976263-4976313 | GM12878 | blood: | n/a |
43 | chr11:4976263-4976313 | HRCEpiC | kidney: | n/a |
44 | chr11:4976263-4976313 | Jurkat | blood: | n/a |
45 | chr11:4976263-4976313 | HRPEpiC | eye: | n/a |
46 | chr11:4977001-4977051 | LNCaP | prostate: | n/a |
47 | chr11:4976263-4976313 | HEK293 | kidney: | embryo |
48 | chr11:4977001-4977051 | HCT-116 | colon: | n/a |
49 | chr11:4976263-4976313 | HRE | kidney: | n/a |
50 | chr11:4977001-4977051 | HIPEpiC | eye: | n/a |
(count:1 , 50 per page) page:
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | 11:4957178-4961904..11:5721056-5732713 | H1-hESC | embryonic stem cell: | embryo |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
OR51A2 | TF binding region |
OR51A3P | TF binding region |
OR51A4 | TF binding region |
OR51A2 | CpG island |
OR51A3P | CpG island |
OR51A4 | CpG island |
ENSG00000132274 | chromatin interactions |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs142456232 | chr11:4960640-4960641 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
2 | rs113275802 | chr11:4960666-4960667 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
3 | rs569744280 | chr11:4960668-4960669 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
4 | rs115846488 | chr11:4960686-4960687 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
5 | rs113779101 | chr11:4960734-4960735 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
6 | rs12807351 | chr11:4960750-4960751 | Inactive region | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
7 | rs147833056 | chr11:4960755-4960756 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
8 | rs148870948 | chr11:4960821-4960822 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
9 | rs12807538 | chr11:4960843-4960844 | Inactive region | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
10 | rs3910265 | chr11:4960848-4960849 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
11 | rs185049950 | chr11:4960880-4960881 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
12 | rs557112042 | chr11:4960908-4960909 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
13 | rs74052649 | chr11:4960911-4960912 | Inactive region | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
14 | rs113259754 | chr11:4960920-4960921 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
15 | rs564065278 | chr11:4960935-4960936 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
16 | rs528425111 | chr11:4960953-4960954 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
17 | rs367713848 | chr11:4960968-4960969 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
18 | rs561581021 | chr11:4960974-4960975 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
19 | rs180941440 | chr11:4960989-4960990 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
20 | rs36013257 | chr11:4961003-4961004 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
21 | rs77791950 | chr11:4961020-4961021 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
22 | rs557180226 | chr11:4961052-4961053 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
23 | rs143627952 | chr11:4961057-4961058 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
24 | rs113484530 | chr11:4961065-4961066 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
25 | rs570815846 | chr11:4961083-4961084 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
26 | rs535041117 | chr11:4961090-4961091 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
27 | rs183692563 | chr11:4961119-4961120 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
28 | rs76745386 | chr11:4961126-4961127 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
29 | rs568739786 | chr11:4961133-4961134 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
30 | rs111953961 | chr11:4961162-4961163 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
31 | rs557546673 | chr11:4961192-4961193 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
32 | rs575250435 | chr11:4961205-4961206 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
33 | rs79239189 | chr11:4961261-4961262 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
34 | rs553519102 | chr11:4961300-4961301 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
35 | rs536759245 | chr11:4961357-4961358 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
36 | rs144607180 | chr11:4961363-4961364 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
37 | rs540164404 | chr11:4961396-4961397 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
38 | rs116757953 | chr11:4961408-4961409 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
39 | rs573565350 | chr11:4961428-4961429 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
40 | rs527462547 | chr11:4961452-4961453 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
41 | rs189189853 | chr11:4961454-4961455 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
42 | rs138515033 | chr11:4961488-4961489 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
43 | rs141657567 | chr11:4961521-4961522 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
44 | rs17339295 | chr11:4961547-4961548 | Inactive region | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
45 | rs564351432 | chr11:4961556-4961557 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
46 | rs146205551 | chr11:4961581-4961582 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
47 | rs182420952 | chr11:4961589-4961590 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
48 | rs568776859 | chr11:4961609-4961610 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
49 | rs536107026 | chr11:4961625-4961626 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
50 | rs550942534 | chr11:4961635-4961636 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Neuroblastoma | 18923191 | CNVD |
Breast cancer | 19432969 | CNVD |
Alzheimer''s disease | 17576883 | CNVD |
Long-qt syndrome | 17576883 | CNVD |
Emphysema | 19352772 | CNVD |
Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
Chordoma | 18071362 | CNVD |
Breast cancer | 16608533 | CNVD |
Cancer | 21183584 | CNVD |
Gastric adenocarcinoma | 19115996 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Burkitt''s lymphoma | 19759907 | CNVD |
Breast cancer | 17603634 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Thyroid cancer | 19087340 | CNVD |
Melanoma | 18172304 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Wilms tumour | 21544195 | CNVD |
Parathyroid adenoma | 22454399 | CNVD |
Chordoma | 21602918 | CNVD |
Breast cancer | 21949216 | CNVD |
Cancer | 21637783 | CNVD |
Non-syndromic sensorineural hearing loss | 19222835 | CNVD |
T-cell acute lymphoblastic leukemia | 20065082 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Astrocytoma | 17387387 | CNVD |
Breast cancer | 21264507 | CNVD |
Beckwith-Wiedemann syndrome | 21518781 | CNVD |
Wilms tumour | 21518781 | CNVD |
Hepatoblastoma | 21518781 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Gastrointestinal stromal cancer | 17535989 | CNVD |
Paraganglioma | 17535989 | CNVD |
Pulmonary chondroma | 17535989 | CNVD |
Gastric cancer | 17908304 | CNVD |
Barrett''s syndrome | 19417022 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Multiple myeloma | 20724749 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Lung cancer | 18438408 | CNVD |
Autism | 22495311 | CNVD |
Esophageal adenocarcinoma | 18519675 | CNVD |
Ovine squamous-cell carcinoma | 17599052 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Glioma | 17123091 | CNVD |
Lung cancer | 16773561 | CNVD |
Neuroblastoma | 21124317 | CNVD |
Lung adenocarcinoma | 17086460 | CNVD |
Lung cancer | 17086460 | CNVD |
Schizophrenia | 21399695 | CNVD |
Gastric cancer | 16891809 | CNVD |
Cancer | 17160897 | CNVD |
Multiple myeloma | 16616336 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Breast cancer | 21364760 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Breast cancer | 22522925 | CNVD |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
Pancreatic cancer | 17952125 | CNVD |