Variant report

Variant	rs4454258
Chromosome Location	chr8:69074167-69074168
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12056532	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12682041	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12682429	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2890423	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3793380	0.87[AMR][1000 genomes]
rs4236959	0.82[AMR][1000 genomes]
rs4582543	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4737253	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7831861	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7843248	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

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	esv1792589	chr8:69066748-69085741	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:69020000-69082600	Weak transcription	Fetal Stomach	stomach
2	chr8:69043600-69107000	Weak transcription	Brain Substantia Nigra	brain
3	chr8:69046600-69083200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:69052600-69104600	Weak transcription	Brain Hippocampus Middle	brain
5	chr8:69067000-69082600	Weak transcription	Brain Anterior Caudate	brain
6	chr8:69067200-69074800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr8:69068200-69076400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:69068600-69087200	Weak transcription	Lung	lung
9	chr8:69068800-69075000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr8:69068800-69075600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
11	chr8:69069800-69074400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
12	chr8:69069800-69075200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
13	chr8:69070000-69075200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
14	chr8:69070600-69075000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
15	chr8:69070600-69075400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr8:69070600-69076600	Strong transcription	HUVEC	blood vessel
17	chr8:69070800-69075400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:69072200-69076400	Weak transcription	Fetal Lung	lung
19	chr8:69073000-69074800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr8:69073600-69076400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr8:69073800-69075000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
22	chr8:69074000-69074400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
23	chr8:69074000-69075000	Strong transcription	Adipose Nuclei	Adipose
24	chr8:69074000-69075200	ZNF genes & repeats	Left Ventricle	heart
25	chr8:69074000-69077400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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