Variant report

Variant rs12329248
Chromosome Location chr2:54192929-54192930
allele C/T
Outlinks Ensembl   UCSC
Chromatin state (count:113 , 50 per page) page: 1 2 3
No. Chromosome Location Chromatin state Cell line Tissue
1 chr2:54153400-54194600 Weak transcription Fetal Brain Male brain
2 chr2:54159400-54195800 Weak transcription Foreskin Melanocyte Primary Cells skin01 Skin
3 chr2:54174200-54195600 Weak transcription Thymus Thymus
4 chr2:54175200-54193000 Weak transcription Fetal Intestine Small intestine
5 chr2:54175200-54195400 Weak transcription Fetal Stomach stomach
6 chr2:54176200-54194200 Weak transcription Mesenchymal Stem Cell Derived Adipocyte Cultured Cells ES cell derived
7 chr2:54176200-54194600 Weak transcription Skeletal Muscle Female skeletal muscle
8 chr2:54176200-54195400 Weak transcription Fetal Intestine Large intestine
9 chr2:54176200-54195400 Weak transcription Rectal Mucosa Donor 29 rectum
10 chr2:54176200-54196000 Weak transcription Fetal Thymus thymus
11 chr2:54176200-54196200 Weak transcription Placenta Placenta
12 chr2:54176400-54194800 Weak transcription NHLF lung
13 chr2:54176400-54195000 Weak transcription HSMM muscle
14 chr2:54177000-54194800 Weak transcription Bone Marrow Derived Cultured Mesenchymal Stem Cells Bone marrow
15 chr2:54177400-54194400 Weak transcription Foreskin Melanocyte Primary Cells skin03 Skin
16 chr2:54177800-54195400 Weak transcription Right Ventricle heart
17 chr2:54180000-54195400 Weak transcription Primary mononuclear cells fromperipheralblood Blood
18 chr2:54188400-54193000 Enhancers Primary B cells from cord blood blood
19 chr2:54188400-54195400 Weak transcription H9 Derived Neuron Cultured Cells ES cell derived
20 chr2:54188600-54195200 Weak transcription Fetal Muscle Leg muscle
21 chr2:54188800-54195800 Enhancers Primary T helper cells fromperipheralblood blood
22 chr2:54189000-54194000 Weak transcription Stomach Smooth Muscle stomach
23 chr2:54189000-54195400 Weak transcription H9 Derived Neuronal Progenitor Cultured Cells ES cell derived
24 chr2:54189200-54194200 Enhancers HepG2 liver
25 chr2:54189400-54195400 Enhancers Primary T helper cells PMA-I stimulated --
26 chr2:54189600-54195600 Weak transcription Fetal Kidney kidney
27 chr2:54189800-54196400 Enhancers Primary T helper memory cells from peripheral blood 2 blood
28 chr2:54190000-54196400 Weak transcription ES-WA7 Cell Line embryonic stem cell
29 chr2:54190200-54195000 Weak transcription hESC Derived CD56+ Ectoderm Cultured Cells ES cell derived
30 chr2:54190400-54193200 Enhancers Primary T helper 17 cells PMA-I stimulated --
31 chr2:54190400-54194800 Weak transcription Ovary ovary
32 chr2:54190400-54195600 Weak transcription H9 Cell Line embryonic stem cell
33 chr2:54190400-54195600 Weak transcription Sigmoid Colon Sigmoid Colon
34 chr2:54190400-54197000 Weak transcription H1 BMP4 Derived Trophoblast Cultured Cells ES cell derived
35 chr2:54190600-54194600 Weak transcription Small Intestine intestine
36 chr2:54190600-54195400 Weak transcription Foreskin Fibroblast Primary Cells skin02 Skin
37 chr2:54190600-54195400 Weak transcription Fetal Adrenal Gland Adrenal Gland
38 chr2:54190600-54195800 Weak transcription Colonic Mucosa Colon
39 chr2:54190600-54196400 Weak transcription iPS DF 19.11 Cell Line embryonic stem cell
40 chr2:54190600-54197000 Weak transcription Esophagus oesophagus
41 chr2:54190800-54194000 Weak transcription Breast Myoepithelial Primary Cells Breast
42 chr2:54190800-54194200 Weak transcription hESC Derived CD184+ Endoderm Cultured Cells ES cell derived
43 chr2:54190800-54194800 Weak transcription Cortex derived primary cultured neurospheres brain
44 chr2:54190800-54194800 Weak transcription Brain Inferior Temporal Lobe brain
45 chr2:54190800-54195400 Weak transcription hESC Derived CD56+ Mesoderm Cultured Cells ES cell derived
46 chr2:54191400-54193800 Enhancers Primary T helper naive cells fromperipheralblood blood
47 chr2:54191600-54193400 Enhancers Foreskin Keratinocyte Primary Cells skin02 Skin
48 chr2:54191800-54193200 Enhancers Primary T regulatory cells fromperipheralblood blood
49 chr2:54191800-54193400 Enhancers Foreskin Fibroblast Primary Cells skin01 Skin
50 chr2:54191800-54195200 Enhancers Psoas Muscle Psoas

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