Variant report

Variant	rs8077753
Chromosome Location	chr17:45353410-45353411
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	chr17:45264009..45265710-chr17:45352857..45355559,2	K562	blood:
2	chr17:45352188..45358928-chr17:45361878..45368448,10	K562	blood:

Variant related genes	Relation type
ENSG00000259207	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1000232	0.84[EUR][1000 genomes]
rs11079770	0.95[ASN][1000 genomes]
rs11656693	0.88[ASN][1000 genomes]
rs11656865	0.87[EUR][1000 genomes]
rs11657963	0.87[EUR][1000 genomes]
rs12709458	0.95[ASN][1000 genomes]
rs16941801	0.85[EUR][1000 genomes]
rs2292867	0.96[ASN][1000 genomes]
rs34491511	0.87[ASN][1000 genomes]
rs3851807	0.87[AFR][1000 genomes]
rs3892084	0.87[ASN][1000 genomes]
rs4470207	0.88[ASN][1000 genomes]
rs4525555	0.88[ASN][1000 genomes]
rs4598971	0.88[ASN][1000 genomes]
rs4629024	0.88[ASN][1000 genomes]
rs56327427	0.86[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs67696888	0.97[ASN][1000 genomes]
rs8066295	0.87[EUR][1000 genomes]
rs8074094	0.87[EUR][1000 genomes]
rs8080254	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs8077753	C17orf57,C5orf45,LOC100272146	cis	thalamus	BrainEAC
rs8077753	C17orf57,C5orf45,LOC100272146	cis	putamen	BrainEAC
rs8077753	TBKBP1	cis	Nerve Tibial	GTEx
rs8077753	C17orf57,C5orf45,LOC100272146	cis	brain	BrainEAC
rs8077753	C17orf57,C5orf45,LOC100272146	cis	frontal cortex	BrainEAC
rs8077753	C17orf57,C5orf45,LOC100272146	cis	intralobular white matter	BrainEAC

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45350600-45355000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr17:45350600-45355000	Enhancers	Aorta	Aorta
3	chr17:45350600-45359400	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr17:45351200-45357800	Enhancers	Ovary	ovary
5	chr17:45351600-45354200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr17:45351600-45354600	Flanking Active TSS	Stomach Smooth Muscle	stomach
7	chr17:45351600-45354800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr17:45351600-45356000	Enhancers	NHDF-Ad	bronchial
9	chr17:45351600-45357600	Enhancers	Fetal Stomach	stomach
10	chr17:45351600-45359000	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr17:45351800-45353600	Weak transcription	Gastric	stomach
12	chr17:45351800-45354600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr17:45351800-45355000	Enhancers	Right Atrium	heart
14	chr17:45351800-45356000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr17:45351800-45356000	Enhancers	Adipose Nuclei	Adipose
16	chr17:45351800-45358200	Enhancers	Lung	lung
17	chr17:45351800-45359200	Enhancers	Primary B cells from peripheral blood	blood
18	chr17:45352000-45354200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr17:45352000-45354600	Enhancers	HMEC	breast
20	chr17:45352000-45358800	Enhancers	NHLF	lung
21	chr17:45352200-45354200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr17:45352200-45354400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr17:45352200-45354600	Enhancers	H9 Cell Line	embryonic stem cell
24	chr17:45352200-45354600	Enhancers	NH-A	brain
25	chr17:45352200-45355000	Enhancers	Fetal Intestine Large	intestine
26	chr17:45352200-45355200	Enhancers	Colonic Mucosa	Colon
27	chr17:45352200-45355200	Enhancers	Placenta	Placenta
28	chr17:45352200-45356400	Enhancers	Fetal Muscle Leg	muscle
29	chr17:45352200-45358400	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr17:45352400-45353600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr17:45352400-45354200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr17:45352400-45354400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr17:45352400-45354400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr17:45352400-45354600	Enhancers	H1 Cell Line	embryonic stem cell
35	chr17:45352400-45354600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr17:45352400-45354600	Enhancers	Brain Substantia Nigra	brain
37	chr17:45352400-45354600	Enhancers	Fetal Kidney	kidney
38	chr17:45352400-45354800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr17:45352400-45354800	Enhancers	Muscle Satellite Cultured Cells	--
40	chr17:45352400-45354800	Enhancers	Right Ventricle	heart
41	chr17:45352400-45355000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr17:45352400-45355000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr17:45352400-45355200	Enhancers	Left Ventricle	heart
44	chr17:45352400-45356200	Enhancers	GM12878-XiMat	blood
45	chr17:45352400-45359200	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr17:45352600-45353600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
47	chr17:45352600-45353600	Enhancers	HSMMtube	muscle
48	chr17:45352600-45353600	Flanking Active TSS	K562	blood
49	chr17:45352600-45353800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr17:45352600-45354200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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