Variant report

Variant	rs4394432
Chromosome Location	chr8:66473174-66473175
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10957358	0.90[EUR][1000 genomes]
rs10957359	0.90[EUR][1000 genomes]
rs11779601	1.00[ASN][1000 genomes]
rs11786598	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11992528	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13271817	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13281981	0.85[EUR][1000 genomes]
rs13282323	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28547533	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28709439	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6472208	0.96[AFR][1000 genomes]
rs6472209	0.84[AFR][1000 genomes]
rs6991838	0.88[EUR][1000 genomes]
rs6994889	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7462352	0.88[AMR][1000 genomes];0.90[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	esv2761434	chr8:65578467-66567678	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4394432	CTD-3025N20.3	cis	Artery Tibial	GTEx
rs4394432	CTD-3025N20.3	cis	Thyroid	GTEx

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:66472400-66473200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
2	chr8:66472400-66474400	Enhancers	Fetal Brain Male	brain
3	chr8:66472600-66473200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
4	chr8:66472600-66473200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
5	chr8:66472600-66473200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr8:66472600-66473200	Enhancers	Liver	Liver
7	chr8:66472600-66473200	Flanking Active TSS	Fetal Brain Female	brain
8	chr8:66472600-66473200	Bivalent Enhancer	Fetal Intestine Small	intestine
9	chr8:66472600-66473800	Active TSS	Brain Hippocampus Middle	brain
10	chr8:66472800-66473200	Active TSS	Brain Angular Gyrus	brain
11	chr8:66472800-66473200	Active TSS	Brain Substantia Nigra	brain
12	chr8:66472800-66473400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
13	chr8:66472800-66473400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr8:66472800-66473400	Flanking Active TSS	Brain Cingulate Gyrus	brain
15	chr8:66472800-66475000	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr8:66473000-66473200	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
17	chr8:66473000-66473200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
18	chr8:66473000-66473200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr8:66473000-66473200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr8:66473000-66473200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr8:66473000-66473200	Active TSS	Brain Anterior Caudate	brain
22	chr8:66473000-66473200	Bivalent Enhancer	Fetal Intestine Large	intestine
23	chr8:66473000-66473400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
24	chr8:66473000-66473400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell

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