Variant report

Variant rs12740482
Chromosome Location chr1:214595963-214595964
allele C/T
Outlinks Ensembl   UCSC
Chromatin state (count:63 , 50 per page) page: 1 2
No. Chromosome Location Chromatin state Cell line Tissue
1 chr1:214572600-214612600 Weak transcription Fetal Intestine Small intestine
2 chr1:214576800-214612200 Weak transcription Fetal Intestine Large intestine
3 chr1:214581400-214601200 Weak transcription Foreskin Melanocyte Primary Cells skin01 Skin
4 chr1:214584200-214603000 Weak transcription Fetal Adrenal Gland Adrenal Gland
5 chr1:214584400-214600000 Weak transcription Fetal Muscle Trunk muscle
6 chr1:214591400-214612800 Weak transcription Pancreas Pancrea
7 chr1:214591600-214596200 Enhancers NHEK skin
8 chr1:214591600-214596400 Weak transcription iPS DF 6.9 Cell Line embryonic stem cell
9 chr1:214591600-214598400 Weak transcription Adipose Nuclei Adipose
10 chr1:214591600-214600400 Weak transcription iPS DF 19.11 Cell Line embryonic stem cell
11 chr1:214591600-214601200 Weak transcription Gastric stomach
12 chr1:214591600-214601400 Weak transcription Lung lung
13 chr1:214592000-214600200 Enhancers Breast Myoepithelial Primary Cells Breast
14 chr1:214592000-214602200 Enhancers Breast variant Human Mammary Epithelial Cells (vHMEC) Breast
15 chr1:214593000-214598400 Weak transcription Mesenchymal Stem Cell Derived Adipocyte Cultured Cells ES cell derived
16 chr1:214593200-214613000 Weak transcription Fetal Muscle Leg muscle
17 chr1:214593400-214602400 Enhancers Foreskin Keratinocyte Primary Cells skin03 Skin
18 chr1:214593400-214612800 Weak transcription Ovary ovary
19 chr1:214593600-214596200 Weak transcription H1 BMP4 Derived Mesendoderm Cultured Cells ES cell derived
20 chr1:214593600-214596400 Weak transcription hESC Derived CD56+ Ectoderm Cultured Cells ES cell derived
21 chr1:214593800-214598600 Weak transcription H9 Derived Neuronal Progenitor Cultured Cells ES cell derived
22 chr1:214594000-214596000 Weak transcription Fetal Heart heart
23 chr1:214594000-214596400 Enhancers Adipose Derived Mesenchymal Stem Cell Cultured Cells ES cell derived
24 chr1:214594000-214598400 Weak transcription ES-UCSF4 Cell Line embryonic stem cell
25 chr1:214594000-214618000 Weak transcription Stomach Smooth Muscle stomach
26 chr1:214594200-214596000 Weak transcription HUES64 Cell Line embryonic stem cell
27 chr1:214594200-214596000 Weak transcription iPS-20b Cell Line embryonic stem cell
28 chr1:214594200-214596800 Enhancers NHLF lung
29 chr1:214594400-214596000 Weak transcription iPS-15b Cell Line embryonic stem cell
30 chr1:214594400-214596800 Enhancers Foreskin Fibroblast Primary Cells skin01 Skin
31 chr1:214594400-214598600 Weak transcription Foreskin Melanocyte Primary Cells skin03 Skin
32 chr1:214594600-214596000 Weak transcription hESC Derived CD184+ Endoderm Cultured Cells ES cell derived
33 chr1:214594600-214596000 Weak transcription HUES48 Cell Line embryonic stem cell
34 chr1:214594600-214596000 Enhancers Muscle Satellite Cultured Cells --
35 chr1:214594600-214596200 Weak transcription iPS-18 Cell Line embryonic stem cell
36 chr1:214594800-214597200 Enhancers Placenta Amnion Placenta Amnion
37 chr1:214595000-214596000 Enhancers NH-A brain
38 chr1:214595000-214596400 Enhancers H1 Derived Mesenchymal Stem Cells ES cell derived
39 chr1:214595000-214596800 Enhancers IMR90 fetal lung fibroblasts Cell Line lung
40 chr1:214595000-214596800 Enhancers HSMMtube muscle
41 chr1:214595000-214597000 Enhancers HSMM muscle
42 chr1:214595200-214596000 Enhancers Right Ventricle heart
43 chr1:214595200-214596200 Flanking Active TSS Osteobl bone
44 chr1:214595200-214596800 Enhancers Left Ventricle heart
45 chr1:214595200-214597000 Enhancers Foreskin Fibroblast Primary Cells skin02 Skin
46 chr1:214595400-214596000 Enhancers NHDF-Ad bronchial
47 chr1:214595400-214596400 Weak transcription H1 BMP4 Derived Trophoblast Cultured Cells ES cell derived
48 chr1:214595400-214596400 Weak transcription Psoas Muscle Psoas
49 chr1:214595400-214596800 Enhancers HUVEC blood vessel
50 chr1:214595400-214601200 Weak transcription Esophagus oesophagus

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