Variant report

Variant	rs1208253
Chromosome Location	chr6:134132224-134132225
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs11751744	1.00[ASN][1000 genomes]
rs11757968	1.00[ASN][1000 genomes]
rs1208227	1.00[ASN][1000 genomes]
rs1208228	1.00[ASN][1000 genomes]
rs1208234	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1208235	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1208236	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1208237	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1208239	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1208240	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1208241	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1208242	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1208243	0.89[EUR][1000 genomes]
rs1208244	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1208246	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1208247	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1208249	0.89[EUR][1000 genomes]
rs1208251	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1208252	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1208254	0.89[EUR][1000 genomes]
rs1208260	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1208265	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1208267	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1208268	1.00[ASN][1000 genomes]
rs1208282	1.00[ASN][1000 genomes]
rs1575446	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1613895	1.00[ASN][1000 genomes]
rs1616030	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1746011	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1746012	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1746015	1.00[ASN][1000 genomes]
rs17481786	1.00[ASN][1000 genomes]
rs1763937	1.00[ASN][1000 genomes]
rs1763941	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1763944	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1763945	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2104261	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41286216	1.00[ASN][1000 genomes]
rs41286218	1.00[ASN][1000 genomes]
rs4518518	1.00[ASN][1000 genomes]
rs4610586	1.00[ASN][1000 genomes]
rs6899948	1.00[ASN][1000 genomes]
rs6900251	1.00[ASN][1000 genomes]
rs6915061	1.00[ASN][1000 genomes]
rs6919282	1.00[ASN][1000 genomes]
rs6920657	1.00[ASN][1000 genomes]
rs716050	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9321418	1.00[ASN][1000 genomes]
rs9321419	1.00[ASN][1000 genomes]
rs942130	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs942131	0.89[EUR][1000 genomes]
rs942132	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv830812	chr6:133993897-134165407	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv34122	chr6:134089019-134378252	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:134126200-134136600	Weak transcription	Aorta	Aorta
2	chr6:134128000-134135400	Weak transcription	Ovary	ovary
3	chr6:134128200-134134000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr6:134130000-134134600	Weak transcription	Fetal Lung	lung
5	chr6:134130200-134135400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr6:134131000-134133400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:134131200-134135400	Weak transcription	Fetal Stomach	stomach
8	chr6:134131200-134135600	Weak transcription	NHDF-Ad	bronchial

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