Variant report

Variant	rs1266371
Chromosome Location	chr12:47037236-47037237
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11183551	0.93[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11183610	0.86[MEX][hapmap]
rs12306495	1.00[EUR][1000 genomes]
rs12579419	0.80[AMR][1000 genomes]
rs12579984	0.84[AMR][1000 genomes]
rs12581743	0.84[AMR][1000 genomes]
rs17097079	0.84[AMR][1000 genomes]
rs17097091	0.84[AMR][1000 genomes]
rs17097246	0.86[MEX][hapmap]
rs180431	0.86[MEX][hapmap]
rs2160892	0.80[AMR][1000 genomes]
rs235607	0.82[JPT][hapmap]
rs235617	0.82[JPT][hapmap];0.81[YRI][hapmap]
rs235621	0.86[MEX][hapmap]
rs235622	0.82[JPT][hapmap];0.91[MEX][hapmap];0.83[MKK][hapmap]
rs235626	0.82[JPT][hapmap];0.91[MEX][hapmap];0.83[MKK][hapmap]
rs2408616	0.84[AMR][1000 genomes]
rs4351902	0.87[AMR][1000 genomes]
rs4768124	0.81[MEX][hapmap]
rs4768740	0.95[MEX][hapmap];0.84[AMR][1000 genomes]
rs4768741	0.82[JPT][hapmap];0.91[MEX][hapmap];0.83[MKK][hapmap];0.81[AMR][1000 genomes]
rs57616927	0.80[AMR][1000 genomes]
rs58806862	0.84[AMR][1000 genomes]
rs60053128	1.00[EUR][1000 genomes]
rs7133051	0.82[AMR][1000 genomes]
rs7310614	0.95[MEX][hapmap];0.82[AMR][1000 genomes]
rs7311414	0.82[AMR][1000 genomes]
rs7315740	0.82[AMR][1000 genomes]
rs73282105	0.82[AMR][1000 genomes]
rs73282110	0.82[AMR][1000 genomes]
rs759704	0.82[AMR][1000 genomes]
rs7976531	0.80[AMR][1000 genomes]
rs977069	0.86[MEX][hapmap]

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	nsv1049525	chr12:46721742-47264172	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv541486	chr12:46721742-47264172	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
3	esv3416674	chr12:46988689-47178369	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv558783	chr12:46996632-47144856	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv692	chr12:47018472-47049495	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv1844378	chr12:47028797-47072016	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1266371	RP11-96H19.1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47032800-47042000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr12:47036800-47051400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links