Variant report

Variant	rs554094421
Chromosome Location	chr6:118229641-118229642
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530526	chr6:118027339-118718476	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	esv3414441	chr6:118227509-118229957	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv522455	chr6:118228527-118240685	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:118227400-118230200	Active TSS	Brain Angular Gyrus	brain
2	chr6:118227400-118230400	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr6:118227600-118230000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
4	chr6:118227600-118230000	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr6:118227800-118229800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:118227800-118229800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr6:118227800-118230000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
8	chr6:118227800-118230200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr6:118227800-118230400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr6:118227800-118230400	Active TSS	Brain Cingulate Gyrus	brain
11	chr6:118227800-118230400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
12	chr6:118228000-118229800	Active TSS	H9 Cell Line	embryonic stem cell
13	chr6:118228000-118229800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:118228000-118229800	Bivalent Enhancer	Placenta	Placenta
15	chr6:118228000-118230000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
16	chr6:118228000-118230200	Active TSS	Brain Anterior Caudate	brain
17	chr6:118228000-118230200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
18	chr6:118228000-118230600	Active TSS	Cortex derived primary cultured neurospheres	brain
19	chr6:118228000-118230800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr6:118228200-118229800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr6:118228200-118230000	Active TSS	Brain Substantia Nigra	brain
22	chr6:118228200-118230200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:118228200-118230800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr6:118228400-118229800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr6:118228400-118229800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr6:118228600-118229800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
27	chr6:118228800-118229800	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr6:118228800-118229800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr6:118228800-118229800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr6:118228800-118229800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr6:118228800-118230000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
32	chr6:118228800-118230400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
33	chr6:118229000-118229800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr6:118229000-118230000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr6:118229000-118230200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
36	chr6:118229200-118229800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
37	chr6:118229200-118229800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
38	chr6:118229200-118229800	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
39	chr6:118229200-118229800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
40	chr6:118229200-118229800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr6:118229200-118229800	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
42	chr6:118229200-118229800	Bivalent Enhancer	Fetal Thymus	thymus
43	chr6:118229200-118229800	Flanking Bivalent TSS/Enh	Ovary	ovary
44	chr6:118229200-118229800	Flanking Bivalent TSS/Enh	Psoas Muscle	Psoas
45	chr6:118229200-118229800	Flanking Active TSS	Right Atrium	heart
46	chr6:118229200-118229800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
47	chr6:118229200-118229800	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
48	chr6:118229200-118230000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
49	chr6:118229200-118230000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
50	chr6:118229200-118230000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle

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