Variant report

Variant rs2129243
Chromosome Location chr16:48646852-48646853
allele A/T
Outlinks Ensembl   UCSC
Chromatin state (count:96 , 50 per page) page: 1 2
No. Chromosome Location Chromatin state Cell line Tissue
1 chr16:48644200-48647800 Flanking Active TSS Primary neutrophils fromperipheralblood blood
2 chr16:48644200-48655400 Weak transcription Spleen Spleen
3 chr16:48644600-48647000 Weak transcription iPS DF 6.9 Cell Line embryonic stem cell
4 chr16:48644600-48647000 Enhancers Primary monocytes fromperipheralblood blood
5 chr16:48644600-48647000 Weak transcription Brain Substantia Nigra brain
6 chr16:48644600-48647200 Weak transcription Fetal Lung lung
7 chr16:48644600-48647200 Weak transcription Hela-S3 cervix
8 chr16:48644600-48647200 Weak transcription HUVEC blood vessel
9 chr16:48644600-48647600 Weak transcription H1 BMP4 Derived Mesendoderm Cultured Cells ES cell derived
10 chr16:48644600-48647600 Enhancers Primary Natural Killer cells fromperipheralblood blood
11 chr16:48644600-48647800 Enhancers Primary B cells from cord blood blood
12 chr16:48644600-48647800 Enhancers Fetal Thymus thymus
13 chr16:48644600-48647800 Enhancers Stomach Mucosa stomach
14 chr16:48644600-48647800 Enhancers HMEC breast
15 chr16:48644600-48648800 Enhancers Placenta Placenta
16 chr16:48644600-48650200 Weak transcription Right Ventricle heart
17 chr16:48644600-48650400 Weak transcription Fetal Heart heart
18 chr16:48644600-48656600 Weak transcription Esophagus oesophagus
19 chr16:48644800-48647000 Weak transcription H9 Cell Line embryonic stem cell
20 chr16:48644800-48647000 Weak transcription Foreskin Fibroblast Primary Cells skin01 Skin
21 chr16:48644800-48647000 Enhancers Rectal Mucosa Donor 31 rectum
22 chr16:48644800-48647000 Weak transcription Rectal Smooth Muscle rectum
23 chr16:48644800-48647200 Weak transcription HUES64 Cell Line embryonic stem cell
24 chr16:48644800-48647200 Enhancers Fetal Intestine Small intestine
25 chr16:48644800-48647400 Weak transcription Foreskin Melanocyte Primary Cells skin03 Skin
26 chr16:48644800-48647400 Enhancers Fetal Muscle Leg muscle
27 chr16:48644800-48647600 Enhancers Fetal Adrenal Gland Adrenal Gland
28 chr16:48644800-48647800 Enhancers iPS-18 Cell Line embryonic stem cell
29 chr16:48644800-48647800 Enhancers Foreskin Keratinocyte Primary Cells skin03 Skin
30 chr16:48644800-48647800 Enhancers Dnd41 blood
31 chr16:48644800-48648600 Enhancers Fetal Intestine Large intestine
32 chr16:48644800-48651600 Weak transcription Brain Cingulate Gyrus brain
33 chr16:48645000-48647800 Flanking Active TSS Monocytes-CD14+_RO01746 blood
34 chr16:48645000-48651400 Weak transcription Breast Myoepithelial Primary Cells Breast
35 chr16:48645200-48647600 Enhancers Colonic Mucosa Colon
36 chr16:48645200-48647800 Enhancers ES-I3 Cell Line embryonic stem cell
37 chr16:48645200-48647800 Enhancers Adipose Nuclei Adipose
38 chr16:48645200-48647800 Enhancers NHEK skin
39 chr16:48645200-48651600 Weak transcription NH-A brain
40 chr16:48645400-48647600 Enhancers Primary B cells from peripheral blood blood
41 chr16:48645400-48647600 Flanking Active TSS Primary T cells from cord blood blood
42 chr16:48645400-48647600 Flanking Active TSS Primary T helper naive cells fromperipheralblood blood
43 chr16:48645400-48647600 Flanking Active TSS Primary hematopoietic stem cells G-CSF-mobilized Male --
44 chr16:48645400-48647600 Enhancers Sigmoid Colon Sigmoid Colon
45 chr16:48645400-48647800 Enhancers Primary mononuclear cells fromperipheralblood Blood
46 chr16:48645400-48647800 Enhancers K562 blood
47 chr16:48645400-48648000 Enhancers Thymus Thymus
48 chr16:48645400-48651400 Weak transcription Bone Marrow Derived Cultured Mesenchymal Stem Cells Bone marrow
49 chr16:48645400-48651400 Weak transcription Cortex derived primary cultured neurospheres brain
50 chr16:48645400-48651400 Weak transcription Ganglion Eminence derived primary cultured neurospheres brain

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