Variant report

Variant	rs6812772
Chromosome Location	chr4:175261917-175261918
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11934405	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11939414	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11944262	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11946084	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13111067	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13112711	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34066344	0.85[ASN][1000 genomes]
rs34274380	0.85[ASN][1000 genomes]
rs34369193	0.85[ASN][1000 genomes]
rs34698083	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34765808	0.85[ASN][1000 genomes]
rs34988464	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35377027	0.85[ASN][1000 genomes]
rs35473266	0.80[AMR][1000 genomes]
rs35918158	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4280712	0.85[ASN][1000 genomes]
rs4293767	0.85[ASN][1000 genomes]
rs4408938	0.85[ASN][1000 genomes]
rs4408939	0.85[ASN][1000 genomes]
rs4428259	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4469047	0.80[AMR][1000 genomes]
rs4695923	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4695926	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4695927	0.85[ASN][1000 genomes]
rs4695928	0.85[ASN][1000 genomes]
rs4695931	0.80[AMR][1000 genomes]
rs56041548	0.80[AMR][1000 genomes]
rs67509565	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6812756	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6817902	0.85[ASN][1000 genomes]
rs72702274	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72702283	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][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	nsv1016910	chr4:174952788-175349057	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv537363	chr4:174952788-175349057	Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv596234	chr4:175053051-175361437	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv869116	chr4:175231090-175801761	Flanking Active TSS Enhancers Genic enhancers Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6812772	CEP44	cis	Thyroid	GTEx

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:175261400-175263000	Enhancers	NHDF-Ad	bronchial
2	chr4:175261600-175262400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:175261600-175262600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr4:175261600-175263000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr4:175261800-175262600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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