Variant report

Variant	rs60701696
Chromosome Location	chr4:147144837-147144838
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10006650	0.95[ASN][1000 genomes]
rs10014590	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12374409	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16998674	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16998675	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17021239	0.95[ASN][1000 genomes]
rs17021241	0.95[ASN][1000 genomes]
rs17021249	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17021264	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28605093	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3860098	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55762555	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55844150	0.95[ASN][1000 genomes]
rs56331233	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs60241278	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62326849	0.95[ASN][1000 genomes]
rs62326850	0.95[ASN][1000 genomes]
rs62326851	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6813969	0.95[ASN][1000 genomes]
rs6816198	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6835911	0.95[ASN][1000 genomes]
rs6838174	0.95[ASN][1000 genomes]
rs6843421	0.95[ASN][1000 genomes]
rs6848943	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6849193	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6854775	0.96[ASN][1000 genomes]
rs72727960	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs9993525	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461675	chr4:147116864-147768206	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv595651	chr4:147116864-147768206	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs60701696	RP11-6L6.2	cis	Adipose Subcutaneous	GTEx
rs60701696	RP11-6L6.2	cis	Skin Sun Exposed Lower leg	GTEx
rs60701696	RP11-6L6.2	cis	lung	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:147143800-147145800	Weak transcription	Right Ventricle	heart
2	chr4:147144200-147145200	Weak transcription	NH-A	brain
3	chr4:147144400-147145600	Weak transcription	Ovary	ovary
4	chr4:147144800-147145000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr4:147144800-147145000	Enhancers	Gastric	stomach

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