Variant report

Variant	rs1208240
Chromosome Location	chr6:134097764-134097765
allele	C/G
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]
rs1208234	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1208235	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1208236	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1208237	0.88[CEU][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1208239	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1208241	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1208242	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1208244	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1208246	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1208247	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1208251	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1208252	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1208253	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1208260	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1575446	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1616030	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1746011	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1746012	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1763941	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1763944	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1763945	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2104261	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs716050	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs942130	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs942132	0.86[AMR][1000 genomes];0.90[EUR][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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:134086200-134112400	Weak transcription	Aorta	Aorta
2	chr6:134091000-134100000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr6:134095800-134099600	Weak transcription	A549	lung
4	chr6:134096000-134097800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:134096000-134098200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr6:134096000-134099400	Weak transcription	Osteobl	bone
7	chr6:134096000-134100000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr6:134096000-134100000	Weak transcription	NHDF-Ad	bronchial
9	chr6:134096000-134112400	Weak transcription	HSMM	muscle
10	chr6:134096200-134099400	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr6:134096600-134097800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr6:134097200-134097800	Enhancers	Fetal Kidney	kidney
13	chr6:134097600-134099000	Enhancers	Fetal Lung	lung

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