Variant report

Variant	rs942130
Chromosome Location	chr6:134135761-134135762
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	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1208235	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1208236	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1208237	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1208239	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1208240	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1208241	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1208242	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1208243	0.89[EUR][1000 genomes]
rs1208244	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1208246	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1208247	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1208249	0.89[EUR][1000 genomes]
rs1208251	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1208252	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1208253	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1208254	0.89[EUR][1000 genomes]
rs1208260	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1208265	0.82[AMR][1000 genomes];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	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1613895	1.00[ASN][1000 genomes]
rs1616030	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1746011	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1746012	0.91[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	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1763944	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1763945	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2104261	0.91[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	0.91[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]
rs942131	0.89[EUR][1000 genomes]
rs942132	0.97[AFR][1000 genomes];1.00[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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:134126200-134136600	Weak transcription	Aorta	Aorta
2	chr6:134134600-134136400	Enhancers	Fetal Lung	lung
3	chr6:134134800-134136000	Enhancers	Fetal Kidney	kidney
4	chr6:134135400-134136000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr6:134135400-134136800	Enhancers	Fetal Stomach	stomach
6	chr6:134135400-134136800	Enhancers	Ovary	ovary
7	chr6:134135400-134137800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr6:134135400-134138200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr6:134135600-134135800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr6:134135600-134135800	Enhancers	HSMM	muscle
11	chr6:134135600-134136000	Enhancers	Adipose Nuclei	Adipose
12	chr6:134135600-134137000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr6:134135600-134137000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr6:134135600-134137000	Enhancers	NHDF-Ad	bronchial
15	chr6:134135600-134137800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr6:134135600-134137800	Enhancers	Muscle Satellite Cultured Cells	--
17	chr6:134135600-134138000	Weak transcription	Fetal Muscle Leg	muscle

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