Variant report

Variant	rs593254
Chromosome Location	chr6:164389165-164389166
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12189842	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12207355	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs522177	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs551475	0.88[ASN][1000 genomes]
rs55878520	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs572989	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57512711	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs607252	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs640650	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs640990	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs641001	0.80[EUR][1000 genomes]
rs670080	0.83[EUR][1000 genomes]
rs7754718	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs942009	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018860	chr6:163939347-164532579	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv538526	chr6:163939347-164532579	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv1026707	chr6:164188210-164749206	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv538527	chr6:164188210-164749206	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv830858	chr6:164296054-164455743	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA	4 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	chr6:164380000-164393600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:164380800-164393000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:164381600-164392200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:164383800-164389200	Enhancers	Brain Germinal Matrix	brain
5	chr6:164383800-164389200	Enhancers	Fetal Heart	heart
6	chr6:164387000-164393000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:164387200-164391200	Weak transcription	Placenta	Placenta
8	chr6:164387400-164393200	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr6:164389000-164389200	Enhancers	Skeletal Muscle Male	skeletal muscle

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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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