Variant report

Variant	rs12542164
Chromosome Location	chr8:114632085-114632086
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10088339	0.81[ASN][1000 genomes]
rs10097118	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10099644	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10105039	0.81[ASN][1000 genomes]
rs10105221	0.81[ASN][1000 genomes]
rs10110242	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10505206	0.81[ASN][1000 genomes]
rs10955672	0.80[ASN][1000 genomes]
rs12386865	0.81[ASN][1000 genomes]
rs12386964	0.81[ASN][1000 genomes]
rs12681503	0.80[ASN][1000 genomes]
rs13439326	0.94[ASN][1000 genomes]
rs1377230	0.93[ASN][1000 genomes]
rs1533274	0.80[JPT][hapmap]
rs1597862	0.81[ASN][1000 genomes]
rs16884662	0.80[JPT][hapmap]
rs16884689	0.80[JPT][hapmap]
rs16884700	0.80[JPT][hapmap]
rs2127057	0.80[JPT][hapmap]
rs28405460	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28477627	0.80[ASN][1000 genomes]
rs28825376	0.80[ASN][1000 genomes]
rs4074797	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4384009	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4492406	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60561026	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62522065	0.80[ASN][1000 genomes]
rs7010793	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs719213	0.80[CHB][hapmap]
rs734622	0.81[ASN][1000 genomes]
rs7461949	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817379	chr8:114338391-115011632	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv891332	chr8:114532488-114667112	Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv891333	chr8:114552521-114643852	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv891334	chr8:114564791-114671631	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv818650	chr8:114574863-115477600	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv2758168	chr8:114575703-115321957	Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	esv2759636	chr8:114575703-115321957	Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv891335	chr8:114589007-114725064	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:114632000-114632400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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