Variant report

Variant rs190365536
Chromosome Location chr21:44918848-44918849
allele C/T
Outlinks Ensembl   UCSC
Chromatin state (count:65 , 50 per page) page: 1 2
No. Chromosome Location Chromatin state Cell line Tissue
1 chr21:44914600-44921800 Weak transcription Colonic Mucosa Colon
2 chr21:44914600-44921800 Weak transcription Sigmoid Colon Sigmoid Colon
3 chr21:44914600-44922200 Weak transcription iPS DF 6.9 Cell Line embryonic stem cell
4 chr21:44914800-44922000 Weak transcription HUES6 Cell Line embryonic stem cell
5 chr21:44915000-44919600 Weak transcription Esophagus oesophagus
6 chr21:44915000-44921800 Weak transcription H9 Derived Neuronal Progenitor Cultured Cells ES cell derived
7 chr21:44915000-44921800 Weak transcription Rectal Mucosa Donor 29 rectum
8 chr21:44915000-44922000 Weak transcription ES-I3 Cell Line embryonic stem cell
9 chr21:44915000-44922400 Weak transcription H1 Derived Neuronal Progenitor Cultured Cells ES cell derived
10 chr21:44915000-44922400 Weak transcription Duodenum Smooth Muscle Duodenum
11 chr21:44915400-44922200 Weak transcription iPS DF 19.11 Cell Line embryonic stem cell
12 chr21:44916800-44920600 Enhancers Fetal Muscle Leg muscle
13 chr21:44916800-44921000 Enhancers Breast variant Human Mammary Epithelial Cells (vHMEC) Breast
14 chr21:44916800-44921200 Enhancers H1 Derived Mesenchymal Stem Cells ES cell derived
15 chr21:44916800-44924200 Enhancers HMEC breast
16 chr21:44917000-44919000 Enhancers Adipose Derived Mesenchymal Stem Cell Cultured Cells ES cell derived
17 chr21:44917000-44919200 Enhancers NH-A brain
18 chr21:44917200-44919400 Enhancers IMR90 fetal lung fibroblasts Cell Line lung
19 chr21:44917200-44921200 Enhancers NHEK skin
20 chr21:44917400-44919000 Enhancers Bone Marrow Derived Cultured Mesenchymal Stem Cells Bone marrow
21 chr21:44917400-44919000 Enhancers Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells embryonic stem cell
22 chr21:44917400-44919200 Enhancers NHLF lung
23 chr21:44917400-44919600 Enhancers Fetal Muscle Trunk muscle
24 chr21:44917400-44923600 Enhancers Foreskin Keratinocyte Primary Cells skin02 Skin
25 chr21:44917600-44919000 Enhancers Foreskin Melanocyte Primary Cells skin03 Skin
26 chr21:44917600-44919200 Enhancers hESC Derived CD56+ Mesoderm Cultured Cells ES cell derived
27 chr21:44917600-44919600 Enhancers Placenta Amnion Placenta Amnion
28 chr21:44917800-44919000 Enhancers Left Ventricle heart
29 chr21:44917800-44919200 Enhancers Fetal Adrenal Gland Adrenal Gland
30 chr21:44917800-44919200 Enhancers Lung lung
31 chr21:44917800-44919400 Enhancers H1 BMP4 Derived Trophoblast Cultured Cells ES cell derived
32 chr21:44917800-44919400 Enhancers Placenta Placenta
33 chr21:44917800-44919600 Enhancers Fetal Heart heart
34 chr21:44917800-44920200 Enhancers Right Ventricle heart
35 chr21:44917800-44921000 Enhancers Foreskin Keratinocyte Primary Cells skin03 Skin
36 chr21:44917800-44921000 Enhancers HepG2 liver
37 chr21:44918000-44919000 Enhancers Fetal Lung lung
38 chr21:44918000-44919200 Enhancers Adipose Nuclei Adipose
39 chr21:44918000-44919600 Enhancers Psoas Muscle Psoas
40 chr21:44918000-44921000 Enhancers Breast Myoepithelial Primary Cells Breast
41 chr21:44918400-44919000 Enhancers Fetal Stomach stomach
42 chr21:44918400-44919000 Flanking Active TSS Skeletal Muscle Female skeletal muscle
43 chr21:44918400-44919000 Flanking Active TSS HSMM muscle
44 chr21:44918400-44919000 Flanking Active TSS HSMMtube muscle
45 chr21:44918400-44919200 Enhancers NHDF-Ad bronchial
46 chr21:44918400-44919800 Weak transcription Pancreas Pancrea
47 chr21:44918400-44921600 Weak transcription Brain Anterior Caudate brain
48 chr21:44918400-44922400 Weak transcription HUVEC blood vessel
49 chr21:44918600-44919000 Weak transcription Gastric stomach
50 chr21:44918600-44919200 Flanking Active TSS Skeletal Muscle Male skeletal muscle

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