Variant report

Variant	rs1993190
Chromosome Location	chr4:124437792-124437793
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs12503335	0.86[ASN][1000 genomes]
rs1452732	0.88[ASN][1000 genomes]
rs17007055	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17752451	0.86[ASN][1000 genomes]
rs17809071	0.84[ASN][1000 genomes]
rs1993189	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1993191	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2014110	0.82[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2553360	0.86[ASN][1000 genomes]
rs2553363	0.86[ASN][1000 genomes]
rs2553372	0.84[ASN][1000 genomes]
rs2553373	0.84[ASN][1000 genomes]
rs2589836	0.86[ASN][1000 genomes]
rs2589865	0.86[ASN][1000 genomes]
rs2893051	0.82[ASN][1000 genomes]
rs4254791	0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs4254792	0.86[ASN][1000 genomes]
rs4286523	0.86[ASN][1000 genomes]
rs4365740	0.86[ASN][1000 genomes]
rs4377602	0.84[ASN][1000 genomes]
rs4400004	0.86[ASN][1000 genomes]
rs4596251	0.89[ASN][1000 genomes]
rs4833280	0.88[ASN][1000 genomes]
rs4833282	0.86[ASN][1000 genomes]
rs4833931	0.86[ASN][1000 genomes]
rs6534409	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6534411	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6534412	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6534414	0.89[ASN][1000 genomes]
rs6813552	0.86[ASN][1000 genomes]
rs6832678	0.86[ASN][1000 genomes]
rs6838729	0.86[ASN][1000 genomes]
rs7694928	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs896679	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs979998	1.00[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	nsv1006945	chr4:124206328-124503863	Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv537240	chr4:124206328-124503863	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv34581	chr4:124271321-125247395	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124428000-124471800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr4:124429200-124437800	Weak transcription	Fetal Muscle Leg	muscle
3	chr4:124430400-124442600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr4:124437200-124438600	Enhancers	Fetal Kidney	kidney

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