Variant report

Variant	rs2646314
Chromosome Location	chr4:55712390-55712391
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1123272	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1497476	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1497477	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1497491	0.81[ASN][1000 genomes]
rs1497492	0.83[ASN][1000 genomes]
rs17695485	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1874653	0.81[AMR][1000 genomes]
rs1948607	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2055222	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2173228	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2270674	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2646316	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2646317	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2646318	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2646319	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2646320	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2646351	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2646355	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2646369	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2726619	0.81[ASN][1000 genomes]
rs2726620	0.81[ASN][1000 genomes]
rs2726623	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2726626	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2726627	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2726628	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2726629	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2726630	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2726631	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2726632	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28628137	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4280801	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4345236	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs716919	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7668976	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7677880	0.87[AMR][1000 genomes]
rs7686543	0.80[ASN][1000 genomes]
rs7692346	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7697169	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs871692	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs871693	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs871694	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs998615	0.88[AMR][1000 genomes];0.82[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	nsv999400	chr4:55143598-55776995	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	esv3367952	chr4:55437113-55724644	Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv526344	chr4:55522488-56231119	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	esv1836939	chr4:55701134-55716601	Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55704600-55712600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr4:55709200-55721600	Weak transcription	Fetal Stomach	stomach
3	chr4:55710400-55712800	Weak transcription	Brain Germinal Matrix	brain

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