Variant report

Variant	rs6591450
Chromosome Location	chr11:57790430-57790431
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1031234	0.88[CEU][hapmap]
rs10896687	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11601841	0.80[CEU][hapmap]
rs12786623	0.85[ASN][1000 genomes]
rs12790525	0.88[CEU][hapmap]
rs12799639	0.86[ASN][1000 genomes]
rs12805812	0.80[CEU][hapmap]
rs1374570	0.94[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs1376489	0.88[CEU][hapmap]
rs17152376	0.80[CEU][hapmap]
rs1814059	0.80[CEU][hapmap]
rs2441950	0.81[JPT][hapmap]
rs2441952	0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2514202	0.81[JPT][hapmap]
rs3851121	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4509781	0.84[CEU][hapmap]
rs7103284	0.82[ASN][1000 genomes]
rs7113760	0.81[CEU][hapmap]
rs7120442	0.80[CEU][hapmap]
rs7930102	0.88[CEU][hapmap]
rs7934184	0.80[CEU][hapmap]
rs7935428	0.80[CEU][hapmap]
rs7938062	0.80[CEU][hapmap]
rs930703	0.80[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv1054205	chr11:57544264-58358509	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	nsv897589	chr11:57623815-58052357	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	esv2761678	chr11:57768288-57810886	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6591450	PLP1	cis	Brain Pons	GTEx

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57785800-57791400	Weak transcription	Pancreas	Pancrea
2	chr11:57787800-57794600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:57789400-57791400	Weak transcription	Left Ventricle	heart
4	chr11:57789600-57791400	Weak transcription	Psoas Muscle	Psoas
5	chr11:57790000-57791400	Enhancers	Adipose Nuclei	Adipose
6	chr11:57790000-57791600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr11:57790200-57790600	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr11:57790200-57790600	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr11:57790200-57792600	Enhancers	Rectal Mucosa Donor 29	rectum
10	chr11:57790200-57792800	Enhancers	Fetal Muscle Leg	muscle
11	chr11:57790400-57790800	Weak transcription	Skeletal Muscle Female	skeletal muscle

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