Variant report

Variant	rs10793063
Chromosome Location	chr11:73345882-73345883
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10793064	0.80[ASN][1000 genomes]
rs10793065	0.83[CHB][hapmap]
rs11235828	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11235830	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11235833	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1525749	0.95[CHB][hapmap];0.80[ASN][1000 genomes]
rs2008734	0.95[CHB][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs3781909	0.96[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.88[MKK][hapmap];0.91[TSI][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3817514	0.95[CHB][hapmap];0.80[ASN][1000 genomes]
rs3862797	0.91[CHB][hapmap]
rs680901	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7103745	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3395161	chr11:73084616-73461577	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv530624	chr11:73114283-73646329	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	nsv1045149	chr11:73314565-73581908	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs10793063	MRPL48	cis	cerebellum	SCAN
rs10793063	PAAF1	cis	lymphoblastoid	seeQTL
rs10793063	MOGAT2	cis	cerebellum	SCAN
rs10793063	MRPL48	Cis_1M	lymphoblastoid	RTeQTL
rs10793063	MRPL48	cis	lymphoblastoid	seeQTL
rs10793063	MRPL48	cis	multi-tissue	Pritchard
rs10793063	PLEKHB1	cis	parietal	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73337400-73346000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr11:73344200-73346800	Enhancers	Primary T cells from cord blood	blood
3	chr11:73344400-73346200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr11:73344400-73346400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr11:73344600-73346000	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr11:73344600-73346000	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr11:73344600-73346400	Enhancers	Fetal Thymus	thymus
8	chr11:73345000-73346200	Enhancers	Primary T cells fromperipheralblood	blood
9	chr11:73345400-73346200	Enhancers	Primary T killer memory cells from peripheral blood	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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