Variant report

Variant rs230640
Chromosome Location chr21:44914815-44914816
allele A/T
Outlinks Ensembl   UCSC
Chromatin state (count:71 , 50 per page) page: 1 2
No. Chromosome Location Chromatin state Cell line Tissue
1 chr21:44912400-44916000 Bivalent Enhancer Fetal Muscle Leg muscle
2 chr21:44912600-44915600 Enhancers HMEC breast
3 chr21:44912600-44915800 Bivalent Enhancer Fetal Muscle Trunk muscle
4 chr21:44912600-44916000 Enhancers H1 Derived Mesenchymal Stem Cells ES cell derived
5 chr21:44912800-44915200 Enhancers Placenta Amnion Placenta Amnion
6 chr21:44912800-44915200 Enhancers Spleen Spleen
7 chr21:44912800-44915400 Enhancers iPS DF 19.11 Cell Line embryonic stem cell
8 chr21:44912800-44915600 Enhancers Foreskin Keratinocyte Primary Cells skin03 Skin
9 chr21:44912800-44915800 Enhancers Placenta Placenta
10 chr21:44912800-44918400 Enhancers Muscle Satellite Cultured Cells --
11 chr21:44913000-44915600 Enhancers Breast variant Human Mammary Epithelial Cells (vHMEC) Breast
12 chr21:44913000-44915600 Enhancers Primary hematopoietic stem cells G-CSF-mobilized Female --
13 chr21:44913000-44915600 Enhancers Primary hematopoietic stem cells G-CSF-mobilized Male --
14 chr21:44913000-44915600 Enhancers Fetal Adrenal Gland Adrenal Gland
15 chr21:44913000-44915800 Enhancers Foreskin Keratinocyte Primary Cells skin02 Skin
16 chr21:44913000-44915800 Enhancers NHEK skin
17 chr21:44913200-44915200 Enhancers Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells embryonic stem cell
18 chr21:44913200-44915200 Enhancers HUVEC blood vessel
19 chr21:44913200-44915400 Enhancers Primary monocytes fromperipheralblood blood
20 chr21:44913200-44915400 Enhancers Primary hematopoietic stem cells short term culture blood
21 chr21:44913200-44915400 Enhancers Foreskin Melanocyte Primary Cells skin01 Skin
22 chr21:44913200-44915600 Enhancers Psoas Muscle Psoas
23 chr21:44913200-44915600 Enhancers Stomach Mucosa stomach
24 chr21:44913200-44916000 Enhancers Skeletal Muscle Female skeletal muscle
25 chr21:44913200-44916000 Enhancers NH-A brain
26 chr21:44913200-44916200 Enhancers Osteobl bone
27 chr21:44913400-44915000 Enhancers H9 Derived Neuronal Progenitor Cultured Cells ES cell derived
28 chr21:44913400-44915200 Enhancers Adipose Derived Mesenchymal Stem Cell Cultured Cells ES cell derived
29 chr21:44913400-44916000 Enhancers NHDF-Ad bronchial
30 chr21:44913600-44915200 Enhancers hESC Derived CD56+ Mesoderm Cultured Cells ES cell derived
31 chr21:44913600-44915200 Enhancers NHLF lung
32 chr21:44913800-44915000 Enhancers H1 Derived Neuronal Progenitor Cultured Cells ES cell derived
33 chr21:44913800-44915000 Enhancers Liver Liver
34 chr21:44913800-44915000 Enhancers Duodenum Smooth Muscle Duodenum
35 chr21:44913800-44915200 Enhancers Mesenchymal Stem Cell Derived Adipocyte Cultured Cells ES cell derived
36 chr21:44913800-44915200 Enhancers Foreskin Fibroblast Primary Cells skin02 Skin
37 chr21:44913800-44915400 Enhancers H1 BMP4 Derived Trophoblast Cultured Cells ES cell derived
38 chr21:44913800-44915400 Enhancers Fetal Intestine Small intestine
39 chr21:44913800-44915400 Flanking Active TSS Hela-S3 cervix
40 chr21:44914000-44915000 Enhancers ES-I3 Cell Line embryonic stem cell
41 chr21:44914000-44915000 Enhancers Primary hematopoietic stem cells blood
42 chr21:44914000-44915000 Enhancers Esophagus oesophagus
43 chr21:44914000-44915000 Flanking Active TSS A549 lung
44 chr21:44914000-44915200 Enhancers Bone Marrow Derived Cultured Mesenchymal Stem Cells Bone marrow
45 chr21:44914000-44915200 Enhancers Duodenum Mucosa Duodenum
46 chr21:44914000-44915200 Enhancers Fetal Intestine Large intestine
47 chr21:44914000-44915400 Enhancers ES-UCSF4 Cell Line embryonic stem cell
48 chr21:44914000-44918000 Weak transcription Right Atrium heart
49 chr21:44914200-44915000 Enhancers Rectal Mucosa Donor 29 rectum
50 chr21:44914400-44915000 Enhancers Brain Anterior Caudate brain

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