Variant report

Variant	rs553416566
Chromosome Location	chr8:69173522-69173523
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:69172089..69174443-chr8:69177342..69179034,2	K562	blood:

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3331644	chr8:68806705-69189171	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1028889	chr8:69026806-69308725	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv948687	chr8:69041121-69642540	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv890977	chr8:69173049-69236718	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:69167000-69173600	Weak transcription	Esophagus	oesophagus
2	chr8:69170400-69173600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:69172200-69173800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:69172200-69173800	Flanking Active TSS	NHDF-Ad	bronchial
5	chr8:69172400-69173600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr8:69172600-69173800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr8:69172800-69173600	Active TSS	NHLF	lung
8	chr8:69172800-69173800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr8:69172800-69174000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr8:69173000-69173600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr8:69173000-69173600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
12	chr8:69173000-69173600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr8:69173000-69173600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
14	chr8:69173000-69173600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr8:69173000-69173600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr8:69173000-69173600	Active TSS	Duodenum Mucosa	Duodenum
17	chr8:69173000-69173600	Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr8:69173000-69173600	Active TSS	Ovary	ovary
19	chr8:69173000-69173600	Active TSS	Right Atrium	heart
20	chr8:69173000-69173800	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr8:69173000-69173800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr8:69173000-69173800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr8:69173000-69173800	Flanking Active TSS	Adipose Nuclei	Adipose
24	chr8:69173000-69173800	Active TSS	Osteobl	bone
25	chr8:69173200-69173600	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr8:69173200-69173600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
27	chr8:69173200-69173600	Enhancers	Aorta	Aorta
28	chr8:69173200-69173600	Active TSS	Brain Hippocampus Middle	brain
29	chr8:69173200-69173600	Enhancers	Fetal Lung	lung
30	chr8:69173200-69173600	Active TSS	Fetal Muscle Leg	muscle
31	chr8:69173200-69173600	Active TSS	Fetal Stomach	stomach
32	chr8:69173200-69173600	Active TSS	Rectal Mucosa Donor 31	rectum
33	chr8:69173200-69173600	Active TSS	Rectal Smooth Muscle	rectum
34	chr8:69173200-69173600	Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr8:69173200-69173600	Active TSS	Stomach Smooth Muscle	stomach
36	chr8:69173200-69173800	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr8:69173200-69173800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr8:69173200-69173800	Enhancers	Left Ventricle	heart
39	chr8:69173200-69173800	Enhancers	Psoas Muscle	Psoas
40	chr8:69173200-69173800	Active TSS	Rectal Mucosa Donor 29	rectum
41	chr8:69173400-69173600	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr8:69173400-69173600	Enhancers	HSMMtube	muscle

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