Variant report

Variant	rs12173290
Chromosome Location	chr6:38267975-38267976
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10484930	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10484931	0.86[ASN][1000 genomes]
rs12524225	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12527432	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12529549	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12660323	0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12664994	0.97[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs16890552	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4711531	0.87[ASN][1000 genomes]
rs4711532	0.97[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4714139	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4714141	0.97[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs57012325	0.86[ASN][1000 genomes]
rs57934228	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs59624393	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs60500173	0.97[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs73422824	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs73422833	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs73730927	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs73730928	0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs871182	0.84[AMR][1000 genomes]
rs871184	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs9296243	0.82[ASN][1000 genomes]
rs9349065	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9366951	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9366952	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9369044	0.84[ASN][1000 genomes]
rs9369045	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9369046	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs9369047	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs9380728	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9380729	0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs9380730	0.97[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9380731	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9380732	0.91[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9380733	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9394483	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs9394485	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9394487	0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9394490	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028825	chr6:37495154-38278320	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1021991	chr6:37893949-38738720	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv885817	chr6:38036420-39019503	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv534620	chr6:38049585-38602064	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv885818	chr6:38147745-38436317	Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv885820	chr6:38166511-38468887	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38249200-38275600	Weak transcription	Fetal Brain Male	brain
2	chr6:38267400-38274000	Weak transcription	Brain Inferior Temporal Lobe	brain

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