Variant report

Variant	rs1556781
Chromosome Location	chr13:38519907-38519908
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:38511957..38514070-chr13:38519300..38521584,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs12429104	1.00[ASW][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs12429858	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1337594	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1337595	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1337605	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1337607	0.81[EUR][1000 genomes]
rs1415599	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1415628	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1591672	0.81[EUR][1000 genomes]
rs2210979	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2485286	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2485291	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2485298	0.87[CEU][hapmap];0.89[CHB][hapmap];0.85[CHD][hapmap];0.83[GIH][hapmap];0.88[JPT][hapmap];0.92[TSI][hapmap];0.83[EUR][1000 genomes]
rs2485483	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2485495	0.83[EUR][1000 genomes]
rs2485497	0.81[EUR][1000 genomes]
rs2485501	0.81[EUR][1000 genomes]
rs34544559	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35140422	1.00[AFR][1000 genomes]
rs4943548	0.81[EUR][1000 genomes]
rs4943551	0.81[EUR][1000 genomes]
rs6563572	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6563573	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6563574	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs71423167	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7322764	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7327323	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7336052	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7992543	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7994671	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7994826	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs817729	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9315526	0.81[EUR][1000 genomes]
rs945858	0.81[EUR][1000 genomes]
rs945859	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9548093	0.84[ASN][1000 genomes]
rs9548104	0.81[EUR][1000 genomes]
rs9548107	0.81[EUR][1000 genomes]
rs9548109	0.81[EUR][1000 genomes]
rs9566279	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9576402	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9576405	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9576406	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9576414	0.81[EUR][1000 genomes]
rs9576424	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915901	chr13:38199035-39032633	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv899996	chr13:38459224-38577056	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv899998	chr13:38480878-38582178	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1556781	MRPS31	cis	cerebellum	SCAN
rs1556781	C13orf38	cis	parietal	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:38519000-38520000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr13:38519000-38520200	Weak transcription	Fetal Intestine Small	intestine
3	chr13:38519200-38520200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr13:38519200-38523200	Weak transcription	Fetal Intestine Large	intestine
5	chr13:38519600-38521600	Weak transcription	K562	blood
6	chr13:38519800-38520000	Enhancers	Duodenum Mucosa	Duodenum

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