Variant report

Variant	rs522080
Chromosome Location	chr6:145585354-145585355
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:25)

rs_ID	r²[population]
rs1407066	0.86[ASN][1000 genomes]
rs2064875	0.81[ASN][1000 genomes]
rs2743955	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2753088	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2753090	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs471039	0.97[EUR][1000 genomes]
rs474562	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs488055	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs502016	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs503180	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs509673	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs509810	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs511519	0.97[EUR][1000 genomes]
rs512301	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs512376	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs518402	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs523704	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs523820	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs524460	0.97[EUR][1000 genomes]
rs534621	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs535580	0.97[EUR][1000 genomes]
rs552434	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs563352	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs577443	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6939914	0.81[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	nsv1016747	chr6:144917411-145599874	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1022965	chr6:145374851-145635385	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:145579400-145593600	Weak transcription	Fetal Kidney	kidney
2	chr6:145582800-145586400	Enhancers	Fetal Lung	lung
3	chr6:145584000-145586800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr6:145584200-145586800	Weak transcription	Fetal Intestine Large	intestine
5	chr6:145584200-145587000	Weak transcription	Fetal Intestine Small	intestine
6	chr6:145584200-145593200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr6:145585000-145586000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr6:145585200-145585400	Enhancers	Fetal Brain Male	brain
9	chr6:145585200-145585400	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr6:145585200-145585600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:145585200-145586200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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