Variant report

Variant rs72818494
Chromosome Location chr2:48540314-48540315
allele C/G
Outlinks Ensembl   UCSC
Chromatin state (count:60 , 50 per page) page: 1 2
No. Chromosome Location Chromatin state Cell line Tissue
1 chr2:48535600-48540400 Weak transcription H1 BMP4 Derived Mesendoderm Cultured Cells ES cell derived
2 chr2:48538400-48540400 Enhancers HepG2 liver
3 chr2:48538400-48540600 Enhancers Primary T helper memory cells from peripheral blood 1 blood
4 chr2:48538600-48540400 Weak transcription Primary hematopoietic stem cells short term culture blood
5 chr2:48538600-48540800 Enhancers Fetal Intestine Large intestine
6 chr2:48538800-48541200 Enhancers NHEK skin
7 chr2:48539000-48540400 Enhancers Breast variant Human Mammary Epithelial Cells (vHMEC) Breast
8 chr2:48539000-48541000 Enhancers Fetal Intestine Small intestine
9 chr2:48539200-48541000 Enhancers HMEC breast
10 chr2:48539400-48540400 Enhancers Small Intestine intestine
11 chr2:48539400-48540600 Enhancers Primary T helper naive cells fromperipheralblood blood
12 chr2:48539400-48540600 Enhancers Primary T helper cells fromperipheralblood blood
13 chr2:48539400-48541000 Weak transcription Stomach Mucosa stomach
14 chr2:48539600-48540400 Enhancers Primary monocytes fromperipheralblood blood
15 chr2:48539600-48540400 Enhancers Primary T cells fromperipheralblood blood
16 chr2:48539600-48540400 Enhancers Primary Natural Killer cells fromperipheralblood blood
17 chr2:48539600-48540600 Enhancers Sigmoid Colon Sigmoid Colon
18 chr2:48539600-48540800 Enhancers Primary neutrophils fromperipheralblood blood
19 chr2:48539600-48541000 Enhancers Breast Myoepithelial Primary Cells Breast
20 chr2:48539800-48540400 Enhancers Primary B cells from cord blood blood
21 chr2:48539800-48540600 Enhancers Psoas Muscle Psoas
22 chr2:48539800-48540800 Weak transcription Muscle Satellite Cultured Cells --
23 chr2:48539800-48541000 Weak transcription Hela-S3 cervix
24 chr2:48540200-48540400 Enhancers Primary B cells from peripheral blood blood
25 chr2:48540200-48540400 Enhancers Primary hematopoietic stem cells blood
26 chr2:48540200-48540400 Enhancers Primary T killer naive cells fromperipheralblood blood
27 chr2:48540200-48540400 Enhancers Foreskin Melanocyte Primary Cells skin03 Skin
28 chr2:48540200-48540400 Enhancers Primary mononuclear cells fromperipheralblood Blood
29 chr2:48540200-48540400 Flanking Active TSS Liver Liver
30 chr2:48540200-48540400 Flanking Active TSS Duodenum Mucosa Duodenum
31 chr2:48540200-48540400 Enhancers Pancreatic Islets Pancreatic Islet
32 chr2:48540200-48540400 Enhancers Placenta Amnion Placenta Amnion
33 chr2:48540200-48540400 Enhancers Rectal Mucosa Donor 29 rectum
34 chr2:48540200-48540400 Flanking Active TSS Skeletal Muscle Female skeletal muscle
35 chr2:48540200-48540600 Enhancers Primary hematopoietic stem cells G-CSF-mobilized Male --
36 chr2:48540200-48540600 Flanking Active TSS GM12878-XiMat blood
37 chr2:48540200-48540600 Enhancers NHLF lung
38 chr2:48540200-48540800 Flanking Active TSS Primary T helper memory cells from peripheral blood 2 blood
39 chr2:48540200-48540800 Flanking Active TSS Primary T helper naive cells from peripheral blood blood
40 chr2:48540200-48540800 Flanking Active TSS Primary T helper 17 cells PMA-I stimulated --
41 chr2:48540200-48540800 ZNF genes & repeats Foreskin Keratinocyte Primary Cells skin02 Skin
42 chr2:48540200-48540800 Enhancers Fetal Muscle Leg muscle
43 chr2:48540200-48540800 Enhancers Placenta Placenta
44 chr2:48540200-48540800 Enhancers Fetal Thymus thymus
45 chr2:48540200-48540800 Enhancers NHDF-Ad bronchial
46 chr2:48540200-48541000 Active TSS Primary T cells effector/memory enriched fromperipheralblood blood
47 chr2:48540200-48541000 Flanking Active TSS Primary T killer memory cells from peripheral blood blood
48 chr2:48540200-48541000 Enhancers Colonic Mucosa Colon
49 chr2:48540200-48541000 Enhancers Fetal Heart heart
50 chr2:48540200-48541000 Enhancers Pancreas Pancrea

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