Variant report

Variant rs57440247
Chromosome Location chr1:172903008-172903009
allele A/G
Outlinks Ensembl   UCSC
Chromatin state (count:61 , 50 per page) page: 1 2
No. Chromosome Location Chromatin state Cell line Tissue
1 chr1:172898400-172903400 Weak transcription Rectal Smooth Muscle rectum
2 chr1:172899200-172903200 Weak transcription NH-A brain
3 chr1:172899600-172903200 Weak transcription Colon Smooth Muscle Colon
4 chr1:172899600-172903200 Weak transcription HSMMtube muscle
5 chr1:172900600-172906000 Enhancers HUVEC blood vessel
6 chr1:172900800-172904200 Enhancers IMR90 fetal lung fibroblasts Cell Line lung
7 chr1:172900800-172904200 Enhancers Dnd41 blood
8 chr1:172900800-172904200 Enhancers NHLF lung
9 chr1:172900800-172904800 Enhancers Foreskin Fibroblast Primary Cells skin01 Skin
10 chr1:172900800-172905000 Enhancers Muscle Satellite Cultured Cells --
11 chr1:172901200-172903800 Enhancers Foreskin Keratinocyte Primary Cells skin02 Skin
12 chr1:172901400-172903200 Enhancers NHDF-Ad bronchial
13 chr1:172901400-172904000 Enhancers HepG2 liver
14 chr1:172901400-172904200 Enhancers Breast variant Human Mammary Epithelial Cells (vHMEC) Breast
15 chr1:172901600-172903200 Enhancers K562 blood
16 chr1:172901600-172905200 Weak transcription Spleen Spleen
17 chr1:172901800-172903800 Enhancers Placenta Placenta
18 chr1:172901800-172904000 Enhancers Primary T helper memory cells from peripheral blood 2 blood
19 chr1:172901800-172904200 Enhancers Osteobl bone
20 chr1:172901800-172904400 Enhancers NHEK skin
21 chr1:172901800-172904600 Enhancers Foreskin Keratinocyte Primary Cells skin03 Skin
22 chr1:172901800-172904600 Enhancers HMEC breast
23 chr1:172902000-172903200 Enhancers Primary hematopoietic stem cells G-CSF-mobilized Male --
24 chr1:172902000-172904000 Enhancers Foreskin Melanocyte Primary Cells skin03 Skin
25 chr1:172902200-172903400 Weak transcription Foreskin Fibroblast Primary Cells skin02 Skin
26 chr1:172902200-172903600 Enhancers Stomach Mucosa stomach
27 chr1:172902200-172904200 Enhancers Primary hematopoietic stem cells short term culture blood
28 chr1:172902200-172904800 Enhancers Adipose Derived Mesenchymal Stem Cell Cultured Cells ES cell derived
29 chr1:172902400-172903200 Weak transcription HSMM muscle
30 chr1:172902400-172903400 Weak transcription Left Ventricle heart
31 chr1:172902400-172903400 Weak transcription Small Intestine intestine
32 chr1:172902400-172903600 Weak transcription hESC Derived CD56+ Mesoderm Cultured Cells ES cell derived
33 chr1:172902400-172904200 Enhancers Primary hematopoietic stem cells G-CSF-mobilized Female --
34 chr1:172902600-172903200 Enhancers Mesenchymal Stem Cell Derived Adipocyte Cultured Cells ES cell derived
35 chr1:172902600-172908800 Weak transcription Breast Myoepithelial Primary Cells Breast
36 chr1:172902800-172903200 Weak transcription Placenta Amnion Placenta Amnion
37 chr1:172902800-172903200 Active TSS A549 lung
38 chr1:172902800-172903800 Enhancers Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells embryonic stem cell
39 chr1:172902800-172904200 Enhancers Primary monocytes fromperipheralblood blood
40 chr1:172902800-172908800 Weak transcription H1 Derived Mesenchymal Stem Cells ES cell derived
41 chr1:172903000-172903400 Enhancers Bone Marrow Derived Cultured Mesenchymal Stem Cells Bone marrow
42 chr1:172903000-172903600 Enhancers H1 BMP4 Derived Mesendoderm Cultured Cells ES cell derived
43 chr1:172903000-172903600 Enhancers HUES6 Cell Line embryonic stem cell
44 chr1:172903000-172903600 Enhancers Primary T cells fromperipheralblood blood
45 chr1:172903000-172903600 Enhancers Primary T helper cells fromperipheralblood blood
46 chr1:172903000-172903600 Enhancers Adipose Nuclei Adipose
47 chr1:172903000-172903600 Enhancers Aorta Aorta
48 chr1:172903000-172903600 Enhancers Esophagus oesophagus
49 chr1:172903000-172903600 Flanking Active TSS Hela-S3 cervix
50 chr1:172903000-172903800 Enhancers ES-I3 Cell Line embryonic stem cell

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