Variant report

Variant	rs12881248
Chromosome Location	chr14:81036760-81036761
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10135604	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10138431	0.83[JPT][hapmap]
rs10139763	0.83[EUR][1000 genomes]
rs10140845	0.83[JPT][hapmap]
rs10145319	0.85[ASN][1000 genomes]
rs10149210	1.00[ASN][1000 genomes]
rs10498544	0.85[CEU][hapmap];0.83[JPT][hapmap];0.89[EUR][1000 genomes]
rs11844906	0.90[CEU][hapmap];0.83[EUR][1000 genomes]
rs12587285	0.93[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12878113	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12886241	0.85[CEU][hapmap];0.83[JPT][hapmap];0.89[EUR][1000 genomes]
rs17110851	0.93[CEU][hapmap];1.00[CHB][hapmap];0.87[EUR][1000 genomes]
rs17110854	0.93[CEU][hapmap];1.00[CHB][hapmap];0.87[EUR][1000 genomes]
rs17110914	0.93[CEU][hapmap];0.83[EUR][1000 genomes]
rs17110926	0.93[CEU][hapmap];0.84[EUR][1000 genomes]
rs2290168	0.86[CEU][hapmap];0.90[EUR][1000 genomes]
rs2619659	0.89[CHB][hapmap]
rs34019777	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34481438	0.84[EUR][1000 genomes]
rs34489190	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34536975	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34946091	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35038680	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35426127	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35505520	0.88[EUR][1000 genomes]
rs35817733	0.88[EUR][1000 genomes]
rs35930082	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56256007	0.85[EUR][1000 genomes]
rs61979379	0.84[EUR][1000 genomes]
rs61981704	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61981706	0.87[EUR][1000 genomes]
rs6574594	0.93[CEU][hapmap];0.84[EUR][1000 genomes]
rs67116258	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7144224	0.80[EUR][1000 genomes]
rs7149459	0.93[CEU][hapmap];0.84[EUR][1000 genomes]
rs8016151	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs8017175	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9323688	0.95[ASN][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	nsv869348	chr14:80921098-81535754	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv902116	chr14:81018237-81082400	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81029600-81044800	Weak transcription	Dnd41	blood
2	chr14:81032400-81040400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr14:81034800-81037000	Enhancers	NHEK	skin
4	chr14:81035000-81037200	Enhancers	HMEC	breast
5	chr14:81035000-81042000	Weak transcription	A549	lung
6	chr14:81035200-81040200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr14:81035400-81036800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr14:81035800-81036800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr14:81036000-81036800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr14:81036000-81037200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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