Variant report

Variant rs530000931
Chromosome Location chr1:59248816-59248817
allele A/G
Outlinks Ensembl   UCSC
Chromatin state (count:127 , 50 per page) page: 1 2 3
No. Chromosome Location Chromatin state Cell line Tissue
1 chr1:59245200-59251400 Active TSS Aorta Aorta
2 chr1:59245600-59250600 Active TSS HMEC breast
3 chr1:59245600-59251000 Active TSS HSMMtube muscle
4 chr1:59245600-59251400 Active TSS Psoas Muscle Psoas
5 chr1:59246000-59251200 Active TSS Liver Liver
6 chr1:59246200-59251600 Active TSS Fetal Kidney kidney
7 chr1:59246400-59251400 Active TSS ES-I3 Cell Line embryonic stem cell
8 chr1:59246600-59249000 Transcr. at gene 5' and 3' Muscle Satellite Cultured Cells --
9 chr1:59246600-59251200 Active TSS Foreskin Melanocyte Primary Cells skin01 Skin
10 chr1:59246600-59251200 Active TSS A549 lung
11 chr1:59246600-59251400 Active TSS Ovary ovary
12 chr1:59246800-59249400 Transcr. at gene 5' and 3' Skeletal Muscle Male skeletal muscle
13 chr1:59246800-59249600 Transcr. at gene 5' and 3' Foreskin Fibroblast Primary Cells skin02 Skin
14 chr1:59246800-59251000 Active TSS HSMM muscle
15 chr1:59246800-59251200 Active TSS Mesenchymal Stem Cell Derived Adipocyte Cultured Cells ES cell derived
16 chr1:59246800-59251400 Active TSS Colon Smooth Muscle Colon
17 chr1:59246800-59252000 Active TSS Duodenum Smooth Muscle Duodenum
18 chr1:59247000-59249000 Bivalent/Poised TSS HUES64 Cell Line embryonic stem cell
19 chr1:59247000-59249000 Bivalent/Poised TSS iPS-18 Cell Line embryonic stem cell
20 chr1:59247000-59249000 Flanking Active TSS Primary B cells from cord blood blood
21 chr1:59247000-59249200 Bivalent/Poised TSS iPS-20b Cell Line embryonic stem cell
22 chr1:59247000-59249400 Bivalent/Poised TSS HUES6 Cell Line embryonic stem cell
23 chr1:59247000-59251200 Active TSS Breast variant Human Mammary Epithelial Cells (vHMEC) Breast
24 chr1:59247000-59251200 Active TSS Ganglion Eminence derived primary cultured neurospheres brain
25 chr1:59247000-59251200 Active TSS Brain Angular Gyrus brain
26 chr1:59247000-59251200 Active TSS Brain Anterior Caudate brain
27 chr1:59247000-59251200 Active TSS Brain Hippocampus Middle brain
28 chr1:59247000-59251200 Active TSS Brain Inferior Temporal Lobe brain
29 chr1:59247000-59251200 Active TSS Fetal Heart heart
30 chr1:59247000-59251200 Active TSS Rectal Mucosa Donor 29 rectum
31 chr1:59247000-59251400 Active TSS Brain Substantia Nigra brain
32 chr1:59247200-59249000 Bivalent/Poised TSS HUES48 Cell Line embryonic stem cell
33 chr1:59247200-59249200 Transcr. at gene 5' and 3' Fetal Intestine Small intestine
34 chr1:59247200-59251000 Active TSS Fetal Lung lung
35 chr1:59247200-59251000 Active TSS NH-A brain
36 chr1:59247200-59251400 Active TSS Small Intestine intestine
37 chr1:59247400-59249000 Flanking Bivalent TSS/Enh Primary neutrophils fromperipheralblood blood
38 chr1:59247400-59249000 Flanking Active TSS Primary hematopoietic stem cells blood
39 chr1:59247400-59249000 Flanking Bivalent TSS/Enh Fetal Thymus thymus
40 chr1:59247400-59249000 Transcr. at gene 5' and 3' Dnd41 blood
41 chr1:59247400-59249400 Transcr. at gene 5' and 3' Pancreatic Islets Pancreatic Islet
42 chr1:59247400-59249600 Bivalent/Poised TSS Foreskin Keratinocyte Primary Cells skin02 Skin
43 chr1:59247400-59250600 Transcr. at gene 5' and 3' Primary T helper 17 cells PMA-I stimulated --
44 chr1:59247400-59251000 Flanking Bivalent TSS/Enh Primary hematopoietic stem cells short term culture blood
45 chr1:59247400-59251400 Flanking Active TSS Primary mononuclear cells fromperipheralblood Blood
46 chr1:59247600-59249200 Transcr. at gene 5' and 3' Colonic Mucosa Colon
47 chr1:59247800-59249200 Bivalent/Poised TSS Foreskin Fibroblast Primary Cells skin01 Skin
48 chr1:59247800-59249400 Transcr. at gene 5' and 3' Skeletal Muscle Female skeletal muscle
49 chr1:59247800-59249600 Bivalent/Poised TSS Foreskin Keratinocyte Primary Cells skin03 Skin
50 chr1:59247800-59251200 Active TSS Hela-S3 cervix

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