Variant report
Variant | esv3435410 |
---|---|
Chromosome Location | chr11:49390876-49394774 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
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No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs11040350 | chr11:49390922-49390923 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs191584949 | chr11:49390939-49390940 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs558679785 | chr11:49390940-49390941 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs569192023 | chr11:49390948-49390949 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs11040351 | chr11:49390971-49390972 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs138743048 | chr11:49390973-49390974 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs184110936 | chr11:49390974-49390975 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs534112964 | chr11:49391017-49391018 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs4086878 | chr11:49391036-49391037 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs2866366 | chr11:49391058-49391059 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
11 | rs369327992 | chr11:49391133-49391134 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs561283441 | chr11:49391172-49391173 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs570980848 | chr11:49391180-49391181 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs187337323 | chr11:49391182-49391183 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs192273600 | chr11:49391214-49391215 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs386753446 | chr11:49391246-49391247 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs114086003 | chr11:49391247-49391248 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs555683107 | chr11:49391248-49391249 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs555068535 | chr11:49391259-49391260 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs35043699 | chr11:49391291-49391292 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
21 | rs184335400 | chr11:49391298-49391299 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs564258999 | chr11:49391331-49391332 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs117701461 | chr11:49391332-49391333 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs532387579 | chr11:49391334-49391335 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs559680122 | chr11:49391353-49391354 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs546269251 | chr11:49391397-49391398 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs562888709 | chr11:49391401-49391402 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs573224318 | chr11:49391404-49391405 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs548213055 | chr11:49391417-49391418 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs568133083 | chr11:49391436-49391437 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs34472419 | chr11:49391438-49391439 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
32 | rs547689961 | chr11:49391468-49391469 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs111744177 | chr11:49391500-49391501 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs570987317 | chr11:49391515-49391516 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs539690330 | chr11:49391587-49391588 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs34432203 | chr11:49391608-49391609 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs556200034 | chr11:49391653-49391654 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs545323170 | chr11:49391694-49391695 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs16914231 | chr11:49391695-49391696 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs150525607 | chr11:49391727-49391728 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs555373514 | chr11:49391732-49391733 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs369980312 | chr11:49391735-49391736 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs190462162 | chr11:49391754-49391755 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs541286481 | chr11:49391775-49391776 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs557807690 | chr11:49391802-49391803 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs577765174 | chr11:49391821-49391822 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs182177536 | chr11:49391826-49391827 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs530746137 | chr11:49391838-49391839 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs112900267 | chr11:49391899-49391900 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs139517957 | chr11:49391907-49391908 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
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 |
Wilms tumour | 21544195 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Gastric cancer | 17908304 | CNVD |
Multiple myeloma | 20724749 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Autism | 22495311 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Non-small cell lung cancer | 21385341 | CNVD |
Intellectual disability | 22102821 | CNVD |
Renal cell carcinoma | 18194544 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Potocki-Shaffer syndrome | 19222835 | CNVD |
WAGR syndrome | 19222835 | CNVD |
Lung cancer | 18438408 | CNVD |
Breast cancer | 16608533 | CNVD |
Hirschsprung''s Disease | 21712996 | CNVD |
Follicular lymphoma | 20505157 | CNVD |
Colorectal cancer | 21128281 | CNVD |
Glioblastoma multiforme | 21138945 | CNVD |
Breast cancer | 21364760 | CNVD |
Prostate cancer | 18632612 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Acute lymphoblastic leukemia | 22581003 | CNVD |
Breast cancer | 21990379 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Intellectual disability | 22045946 | CNVD |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
Breast cancer | 22522925 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr11:49390200-49395000 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
2 | chr11:49390600-49399400 | Weak transcription | Liver | Liver |
3 | chr11:49394000-49394200 | Enhancers | HUES48 Cell Line | embryonic stem cell |
4 | chr11:49394200-49395600 | Weak transcription | HUES48 Cell Line | embryonic stem cell |
5 | chr11:49394200-49395600 | Enhancers | Fetal Heart | heart |