Variant report

Variant	rs6454121
Chromosome Location	chr6:80109348-80109349
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs196675	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs196686	0.89[EUR][1000 genomes]
rs196693	0.87[EUR][1000 genomes]
rs3843504	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs3846734	0.84[AMR][1000 genomes]
rs3846736	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3846738	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4055086	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs473594	0.84[EUR][1000 genomes]
rs7773764	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028607	chr6:79853272-80767716	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80107600-80109400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:80109000-80109800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr6:80109000-80110400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:80109000-80110600	Enhancers	Brain Germinal Matrix	brain
5	chr6:80109000-80111600	Enhancers	Fetal Intestine Small	intestine
6	chr6:80109000-80115800	Enhancers	Fetal Intestine Large	intestine
7	chr6:80109200-80109600	Flanking Active TSS	HepG2	liver
8	chr6:80109200-80110000	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr6:80109200-80110200	Enhancers	Small Intestine	intestine

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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