Variant report

Variant	rs4873754
Chromosome Location	chr8:54421887-54421888
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10097151	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10100538	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13271231	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1477952	0.89[EUR][1000 genomes]
rs1477953	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1477954	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs1477958	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1531520	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1551909	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2889303	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3891	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3892	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4873755	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4873756	0.81[ASN][1000 genomes]
rs6991456	0.90[ASN][1000 genomes]
rs6995863	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7013700	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9643478	0.88[ASN][1000 genomes]
rs9657156	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9657157	0.88[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752674	chr8:54181147-54483747	Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4873754	RP11-1081M5.1	cis	Artery Aorta	GTEx

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54409600-54426600	Weak transcription	Stomach Smooth Muscle	stomach
2	chr8:54411800-54433400	Weak transcription	Colon Smooth Muscle	Colon
3	chr8:54416800-54426600	Weak transcription	Right Ventricle	heart
4	chr8:54419200-54436200	Weak transcription	Pancreas	Pancrea
5	chr8:54419800-54426000	Weak transcription	HSMM	muscle
6	chr8:54420000-54422000	Weak transcription	Psoas Muscle	Psoas
7	chr8:54420200-54422400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr8:54420800-54423400	Enhancers	Left Ventricle	heart
9	chr8:54421200-54427400	Enhancers	Fetal Heart	heart
10	chr8:54421400-54423400	Strong transcription	Aorta	Aorta
11	chr8:54421600-54423200	Enhancers	HMEC	breast
12	chr8:54421600-54424000	Strong transcription	Ovary	ovary
13	chr8:54421800-54422800	Weak transcription	Right Atrium	heart
14	chr8:54421800-54423600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr8:54421800-54434800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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