Variant report

Variant rs2999476
Chromosome Location chr1:112947456-112947457
allele C/T
Outlinks Ensembl   UCSC
Chromatin state (count:88 , 50 per page) page: 1 2
No. Chromosome Location Chromatin state Cell line Tissue
1 chr1:112940000-112950600 Weak transcription Lung lung
2 chr1:112940000-112952200 Weak transcription Esophagus oesophagus
3 chr1:112940000-112954400 Weak transcription Fetal Muscle Leg muscle
4 chr1:112940000-112956400 Weak transcription Left Ventricle heart
5 chr1:112940000-112961400 Weak transcription iPS DF 6.9 Cell Line embryonic stem cell
6 chr1:112940200-112958400 Weak transcription Placenta Amnion Placenta Amnion
7 chr1:112940600-112958800 Weak transcription Colonic Mucosa Colon
8 chr1:112940600-112962000 Weak transcription Psoas Muscle Psoas
9 chr1:112940800-112955000 Weak transcription Adipose Nuclei Adipose
10 chr1:112941000-112949000 Weak transcription Fetal Lung lung
11 chr1:112941000-112949000 Weak transcription Skeletal Muscle Male skeletal muscle
12 chr1:112941200-112949200 Enhancers IMR90 fetal lung fibroblasts Cell Line lung
13 chr1:112941200-112955000 Weak transcription Duodenum Mucosa Duodenum
14 chr1:112941200-112955000 Weak transcription Fetal Kidney kidney
15 chr1:112941400-112954400 Weak transcription Breast Myoepithelial Primary Cells Breast
16 chr1:112941400-112956400 Weak transcription Fetal Intestine Small intestine
17 chr1:112941400-112959400 Weak transcription Brain Germinal Matrix brain
18 chr1:112941600-112959600 Weak transcription Fetal Brain Female brain
19 chr1:112942400-112952200 Weak transcription Rectal Mucosa Donor 29 rectum
20 chr1:112942400-112988200 Weak transcription Small Intestine intestine
21 chr1:112942600-112954800 Weak transcription Fetal Adrenal Gland Adrenal Gland
22 chr1:112942600-112955400 Weak transcription Fetal Intestine Large intestine
23 chr1:112942600-112966400 Weak transcription Spleen Spleen
24 chr1:112942600-112967000 Weak transcription Pancreas Pancrea
25 chr1:112943400-112949200 Enhancers iPS-15b Cell Line embryonic stem cell
26 chr1:112943400-112950400 Enhancers NHDF-Ad bronchial
27 chr1:112943800-112947600 Enhancers H9 Derived Neuron Cultured Cells ES cell derived
28 chr1:112944200-112948000 Genic enhancers Foreskin Keratinocyte Primary Cells skin03 Skin
29 chr1:112944600-112949000 Weak transcription Brain Cingulate Gyrus brain
30 chr1:112944800-112947600 Enhancers Adipose Derived Mesenchymal Stem Cell Cultured Cells ES cell derived
31 chr1:112944800-112959000 Weak transcription Brain Hippocampus Middle brain
32 chr1:112945000-112966400 Weak transcription iPS DF 19.11 Cell Line embryonic stem cell
33 chr1:112945200-112949800 Weak transcription Fetal Brain Male brain
34 chr1:112945400-112947800 Enhancers Fetal Heart heart
35 chr1:112945600-112948800 Weak transcription Brain Angular Gyrus brain
36 chr1:112946200-112947600 Enhancers Sigmoid Colon Sigmoid Colon
37 chr1:112946400-112947600 Enhancers hESC Derived CD56+ Ectoderm Cultured Cells ES cell derived
38 chr1:112946400-112947600 Genic enhancers NHEK skin
39 chr1:112946400-112947800 Enhancers Mesenchymal Stem Cell Derived Adipocyte Cultured Cells ES cell derived
40 chr1:112946400-112948000 Enhancers HMEC breast
41 chr1:112946400-112948600 Enhancers Placenta Placenta
42 chr1:112946600-112949800 Weak transcription Ganglion Eminence derived primary cultured neurospheres brain
43 chr1:112946800-112947600 Enhancers Breast variant Human Mammary Epithelial Cells (vHMEC) Breast
44 chr1:112946800-112948000 Enhancers NHLF lung
45 chr1:112946800-112948200 Enhancers HSMMtube muscle
46 chr1:112946800-112949200 Enhancers Foreskin Fibroblast Primary Cells skin01 Skin
47 chr1:112946800-112950200 Enhancers HUVEC blood vessel
48 chr1:112946800-112950200 Enhancers Osteobl bone
49 chr1:112946800-112952200 Weak transcription Foreskin Fibroblast Primary Cells skin02 Skin
50 chr1:112946800-112959000 Weak transcription GM12878-XiMat blood

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