Variant report

Variant	rs554902008
Chromosome Location	chr6:118229318-118229319
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:111 , 50 per page) page: 1 2 3

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	chr6:118227600-118229400	Active TSS	Fetal Brain Female	brain
4	chr6:118227600-118229600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
5	chr6:118227600-118230000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
6	chr6:118227600-118230000	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr6:118227800-118229400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
8	chr6:118227800-118229400	Active TSS	Rectal Smooth Muscle	rectum
9	chr6:118227800-118229600	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:118227800-118229600	Bivalent/Poised TSS	A549	lung
11	chr6:118227800-118229800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr6:118227800-118229800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr6:118227800-118230000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
14	chr6:118227800-118230200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr6:118227800-118230400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr6:118227800-118230400	Active TSS	Brain Cingulate Gyrus	brain
17	chr6:118227800-118230400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
18	chr6:118228000-118229400	Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr6:118228000-118229400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr6:118228000-118229400	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr6:118228000-118229400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
22	chr6:118228000-118229400	Active TSS	Gastric	stomach
23	chr6:118228000-118229600	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr6:118228000-118229600	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
25	chr6:118228000-118229600	Active TSS	Fetal Kidney	kidney
26	chr6:118228000-118229800	Active TSS	H9 Cell Line	embryonic stem cell
27	chr6:118228000-118229800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr6:118228000-118229800	Bivalent Enhancer	Placenta	Placenta
29	chr6:118228000-118230000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
30	chr6:118228000-118230200	Active TSS	Brain Anterior Caudate	brain
31	chr6:118228000-118230200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
32	chr6:118228000-118230600	Active TSS	Cortex derived primary cultured neurospheres	brain
33	chr6:118228000-118230800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr6:118228200-118229400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr6:118228200-118229400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
36	chr6:118228200-118229400	Bivalent/Poised TSS	Fetal Stomach	stomach
37	chr6:118228200-118229400	Active TSS	Rectal Mucosa Donor 29	rectum
38	chr6:118228200-118229600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr6:118228200-118229800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr6:118228200-118230000	Active TSS	Brain Substantia Nigra	brain
41	chr6:118228200-118230200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr6:118228200-118230800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr6:118228400-118229400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
44	chr6:118228400-118229400	Bivalent/Poised TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr6:118228400-118229600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr6:118228400-118229600	Flanking Active TSS	Primary hematopoietic stem cells	blood
47	chr6:118228400-118229800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr6:118228400-118229800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr6:118228600-118229400	Active TSS	Right Ventricle	heart
50	chr6:118228600-118229600	Bivalent Enhancer	Primary B cells from cord blood	blood

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