Variant report

Variant	rs4582793
Chromosome Location	chr1:152229578-152229579
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10888483	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11204944	0.82[AMR][1000 genomes]
rs11204948	0.82[AMR][1000 genomes]
rs11204949	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11204978	0.81[AMR][1000 genomes]
rs11589587	0.83[EUR][1000 genomes]
rs12405241	0.81[AMR][1000 genomes]
rs12405278	0.81[AMR][1000 genomes]
rs12405678	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12406105	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12407807	0.81[AMR][1000 genomes]
rs12408581	0.83[EUR][1000 genomes]
rs12409802	0.83[AMR][1000 genomes]
rs12566867	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2065956	0.81[AMR][1000 genomes]
rs41266134	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4361987	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4369233	0.81[ASN][1000 genomes]
rs4456097	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4511111	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55654502	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55957623	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55982921	0.82[EUR][1000 genomes]
rs56013982	0.83[EUR][1000 genomes]
rs58832908	0.81[EUR][1000 genomes]
rs6668499	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6676012	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6683653	0.80[ASN][1000 genomes]
rs6692010	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72696952	0.81[EUR][1000 genomes]
rs72696963	0.83[EUR][1000 genomes]
rs72696969	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv547853	chr1:152008671-152236760	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	nsv1014095	chr1:152104486-152454591	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv946325	chr1:152221751-152240196	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS	lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4582793	FLG	cis	Thyroid	GTEx

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152219400-152230200	Weak transcription	Ovary	ovary
2	chr1:152220800-152230400	Weak transcription	Brain Angular Gyrus	brain
3	chr1:152223200-152230400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr1:152223600-152229600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr1:152224600-152230400	Weak transcription	Fetal Kidney	kidney
6	chr1:152225400-152232200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:152225600-152232200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:152229400-152230200	Weak transcription	Aorta	Aorta

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