Variant report

Variant	rs2238272
Chromosome Location	chr14:72467631-72467632
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10136808	0.88[EUR][1000 genomes]
rs10137909	0.89[EUR][1000 genomes]
rs10138176	0.86[EUR][1000 genomes]
rs11623376	0.83[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs11623548	0.92[CEU][hapmap];0.89[TSI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11623588	0.96[CEU][hapmap];0.87[TSI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12586947	0.94[ASW][hapmap];0.83[CHB][hapmap];0.81[CHD][hapmap];0.98[LWK][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs12586968	0.94[ASW][hapmap];0.83[CHB][hapmap];0.81[CHD][hapmap];0.98[LWK][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs12590831	0.92[CEU][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12883063	0.83[CHB][hapmap];0.81[CHD][hapmap]
rs12884202	0.83[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs12884483	0.85[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs12885938	0.94[ASW][hapmap];0.83[CHB][hapmap];0.81[CHD][hapmap];0.98[LWK][hapmap];0.94[MKK][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs12897386	0.83[CHB][hapmap];0.86[YRI][hapmap];0.86[AFR][1000 genomes]
rs1978225	0.92[CEU][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1978227	0.92[CEU][hapmap];0.87[TSI][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2010848	0.92[CEU][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2238268	0.83[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2238269	0.96[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs2238270	0.96[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2239267	0.83[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2239268	0.94[ASW][hapmap];0.83[CHB][hapmap];0.81[CHD][hapmap];1.00[LWK][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2283424	0.92[CEU][hapmap];0.87[TSI][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2283426	0.92[CEU][hapmap];0.84[TSI][hapmap];0.88[EUR][1000 genomes]
rs2332704	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2332707	0.86[AFR][1000 genomes]
rs35727014	0.86[AFR][1000 genomes]
rs3825716	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4048388	0.83[CHB][hapmap];0.86[YRI][hapmap];0.85[AFR][1000 genomes]
rs4569194	0.88[EUR][1000 genomes]
rs4902964	0.92[CEU][hapmap];0.84[TSI][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6574037	0.83[CHB][hapmap]
rs7155855	0.96[CEU][hapmap];0.82[TSI][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8008678	0.83[CHB][hapmap];0.86[YRI][hapmap];0.86[AFR][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	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv948800	chr14:72462557-73150701	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2238272	ACTN1	cis	cerebellum	SCAN
rs2238272	DLST	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72467000-72468000	Enhancers	Fetal Muscle Leg	muscle
2	chr14:72467000-72471000	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr14:72467200-72468000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr14:72467200-72468000	Enhancers	Ovary	ovary
5	chr14:72467400-72467800	Weak transcription	Left Ventricle	heart
6	chr14:72467600-72467800	Enhancers	GM12878-XiMat	blood
7	chr14:72467600-72468000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr14:72467600-72468200	Enhancers	Fetal Heart	heart

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