Variant report

Variant	rs56221506
Chromosome Location	chr17:45331397-45331398
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:45297983..45300898-chr17:45329772..45332242,2	K562	blood:

Variant related genes	Relation type
ENSG00000252088	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs13306478	0.93[AMR][1000 genomes]
rs16941740	0.89[AMR][1000 genomes]
rs16941829	0.86[AMR][1000 genomes]
rs16941863	0.86[AMR][1000 genomes]
rs16941864	0.86[AMR][1000 genomes]
rs2873530	0.86[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	esv3370617	chr17:45329978-45332826	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs56221506	C17orf57,C5orf45,LOC100272146	cis	brain	BrainEAC

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45328800-45332200	Enhancers	Fetal Heart	heart
2	chr17:45330600-45331400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr17:45330600-45331400	Active TSS	Stomach Smooth Muscle	stomach
4	chr17:45330600-45331800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr17:45330600-45331800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr17:45330600-45331800	Bivalent/Poised TSS	A549	lung
7	chr17:45330600-45332000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
8	chr17:45330600-45332200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
9	chr17:45330600-45332200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
10	chr17:45330600-45332200	Flanking Bivalent TSS/Enh	Dnd41	blood
11	chr17:45330600-45332400	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr17:45330600-45332800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr17:45330600-45333000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr17:45330600-45333000	Active TSS	Rectal Smooth Muscle	rectum
15	chr17:45330800-45331400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr17:45330800-45331400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr17:45330800-45331400	Bivalent/Poised TSS	NHEK	skin
18	chr17:45330800-45331600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
19	chr17:45330800-45331600	Active TSS	Brain Hippocampus Middle	brain
20	chr17:45330800-45331600	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
21	chr17:45330800-45331800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
22	chr17:45330800-45331800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr17:45330800-45331800	Flanking Active TSS	Primary hematopoietic stem cells	blood
24	chr17:45330800-45331800	Bivalent/Poised TSS	Primary T killer naive cells fromperipheralblood	blood
25	chr17:45330800-45331800	Active TSS	Brain Angular Gyrus	brain
26	chr17:45330800-45331800	Active TSS	Brain Anterior Caudate	brain
27	chr17:45330800-45331800	Active TSS	Brain Substantia Nigra	brain
28	chr17:45330800-45331800	Bivalent/Poised TSS	Fetal Brain Female	brain
29	chr17:45330800-45331800	Active TSS	Spleen	Spleen
30	chr17:45330800-45331800	Active TSS	Hela-S3	cervix
31	chr17:45330800-45331800	Active TSS	HSMM	muscle
32	chr17:45330800-45331800	Active TSS	Osteobl	bone
33	chr17:45330800-45332000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
34	chr17:45330800-45332000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr17:45330800-45332000	Active TSS	Brain Cingulate Gyrus	brain
36	chr17:45330800-45332000	Active TSS	Brain Inferior Temporal Lobe	brain
37	chr17:45330800-45332000	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr17:45330800-45332200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
39	chr17:45330800-45332200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
40	chr17:45330800-45332200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr17:45330800-45332200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
42	chr17:45330800-45332200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
43	chr17:45330800-45332200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr17:45330800-45332200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr17:45330800-45332200	Bivalent Enhancer	Fetal Brain Male	brain
46	chr17:45330800-45332400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
47	chr17:45330800-45332400	Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr17:45330800-45332400	Active TSS	Aorta	Aorta
49	chr17:45330800-45332400	Active TSS	NHDF-Ad	bronchial
50	chr17:45330800-45332400	Active TSS	NHLF	lung

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