Variant report

Variant	rs839173
Chromosome Location	chr12:86516726-86516727
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:86511451..86513760-chr12:86516670..86519004,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1024076	0.92[CEU][hapmap]
rs1689361	0.92[CEU][hapmap];0.95[TSI][hapmap]
rs1689363	0.92[CEU][hapmap];0.97[TSI][hapmap]
rs1698756	0.94[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.93[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap]
rs2934143	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs839092	0.92[CEU][hapmap];0.82[YRI][hapmap]
rs839093	0.92[CEU][hapmap];0.97[TSI][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs839095	0.95[EUR][1000 genomes]
rs839096	0.92[CEU][hapmap];0.95[EUR][1000 genomes]
rs839097	0.95[EUR][1000 genomes]
rs839133	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs839136	0.89[CEU][hapmap];0.97[TSI][hapmap];0.92[EUR][1000 genomes]
rs839145	0.86[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs839146	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs839174	0.82[ASW][hapmap];0.92[CEU][hapmap];0.97[TSI][hapmap];0.89[YRI][hapmap]
rs839175	0.85[YRI][hapmap]
rs839176	1.00[CHB][hapmap];0.91[YRI][hapmap]
rs839177	0.92[CEU][hapmap];0.92[YRI][hapmap]
rs839179	0.81[ASW][hapmap];0.92[CEU][hapmap];0.95[TSI][hapmap]
rs839180	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs839181	0.87[EUR][1000 genomes]
rs844431	0.85[CEU][hapmap]
rs863940	0.82[ASW][hapmap];0.89[CEU][hapmap];0.97[TSI][hapmap];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049179	chr12:86056376-86799188	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv2761759	chr12:86415936-86747726	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv518059	chr12:86416212-86747726	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1041397	chr12:86438607-86737558	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv470311	chr12:86484366-86550783	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3442004	chr12:86514695-86599965	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs839173	GNG11	trans	lymphoblastoid	seeQTL

Chromatin state (count:0 , 50 per page) page:

No data

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