Variant report

Variant	rs7148264
Chromosome Location	chr14:80199280-80199281
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10129446	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11624148	0.81[CEU][hapmap]
rs11845174	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12431759	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12435036	0.96[CEU][hapmap];0.81[YRI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12435075	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12435099	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17764590	0.85[CEU][hapmap]
rs1861088	1.00[CEU][hapmap];0.91[GIH][hapmap];0.91[MEX][hapmap];0.84[MKK][hapmap];0.86[TSI][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2160081	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2192422	0.85[CEU][hapmap];0.80[JPT][hapmap];0.84[TSI][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2192423	0.83[MEX][hapmap]
rs2192426	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2215839	0.82[CEU][hapmap];0.91[MEX][hapmap]
rs4445828	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4899749	1.00[CEU][hapmap];0.96[GIH][hapmap];0.91[MEX][hapmap];0.84[TSI][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55712116	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6574519	0.85[CEU][hapmap]
rs7143192	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7144518	0.85[CEU][hapmap]
rs7147057	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7155520	1.00[CEU][hapmap];0.93[GIH][hapmap];0.91[MEX][hapmap];0.84[MKK][hapmap];0.84[TSI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7155526	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7158489	0.89[CEU][hapmap]
rs8005873	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8014892	0.84[CEU][hapmap]
rs8015851	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8018724	1.00[CEU][hapmap];0.93[GIH][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8022353	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045241	chr14:79885361-80734201	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1039622	chr14:79908702-80266601	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv902113	chr14:80172094-80929699	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:80171400-80232800	Weak transcription	Stomach Smooth Muscle	stomach
2	chr14:80196400-80200600	Weak transcription	Aorta	Aorta
3	chr14:80196800-80200600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:80197400-80199400	Weak transcription	Brain Germinal Matrix	brain
5	chr14:80198800-80199400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr14:80199000-80199600	Weak transcription	NHDF-Ad	bronchial
7	chr14:80199000-80200200	Weak transcription	NHLF	lung
8	chr14:80199200-80199600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr14:80199200-80199800	Enhancers	Muscle Satellite Cultured Cells	--

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