Variant report

Variant	rs1992118
Chromosome Location	chr4:147962432-147962433
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10519848	0.82[CEU][hapmap];0.94[CHB][hapmap];0.85[CHD][hapmap];0.87[GIH][hapmap];0.90[MEX][hapmap];0.90[TSI][hapmap];0.88[EUR][1000 genomes]
rs13104820	0.81[MEX][hapmap]
rs13118835	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13150187	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13151041	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17472952	0.80[EUR][1000 genomes]
rs17472966	0.93[CHB][hapmap];0.91[JPT][hapmap];0.86[EUR][1000 genomes]
rs17576594	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1992119	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2118257	0.90[ASN][1000 genomes]
rs2357439	0.86[EUR][1000 genomes]
rs34221140	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34344397	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35334988	0.86[EUR][1000 genomes]
rs3789147	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55974445	0.87[EUR][1000 genomes]
rs56199987	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6855963	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7660168	0.94[CHB][hapmap];0.87[CHD][hapmap];0.83[GIH][hapmap];0.90[JPT][hapmap];0.88[TSI][hapmap];0.86[EUR][1000 genomes]
rs7668995	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7699439	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs867	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs974278	0.81[CHD][hapmap]

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	nsv880240	chr4:147905897-148032003	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv461676	chr4:147927227-147962432	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv595652	chr4:147927227-147962432	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv1016598	chr4:147931134-148012064	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:147959400-147962600	Weak transcription	Brain Cingulate Gyrus	brain
2	chr4:147959600-147962600	Weak transcription	Brain Hippocampus Middle	brain
3	chr4:147961800-147963200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr4:147962200-147962600	Weak transcription	Brain Substantia Nigra	brain
5	chr4:147962400-147963200	Weak transcription	Brain Inferior Temporal Lobe	brain

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