Variant report

Variant	rs2351058
Chromosome Location	chr11:15601040-15601041
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:15595531..15597893-chr11:15599482..15601771,2	K562	blood:
2	chr11:15593846..15595454-chr11:15598366..15601306,2	K562	blood:
3	chr11:15599637..15602422-chr11:15610092..15612247,2	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10741679	0.85[CEU][hapmap];0.81[CHB][hapmap];0.91[TSI][hapmap];0.86[EUR][1000 genomes]
rs10766262	0.80[EUR][1000 genomes]
rs10766265	0.92[EUR][1000 genomes]
rs10766266	0.88[CEU][hapmap];0.81[CHB][hapmap];0.92[EUR][1000 genomes]
rs10766270	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10832458	0.80[EUR][1000 genomes]
rs10832459	0.80[EUR][1000 genomes]
rs10832473	0.88[CEU][hapmap];0.80[CHB][hapmap];0.92[EUR][1000 genomes]
rs10832477	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10832478	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10832482	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11023639	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1552304	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2068036	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2351041	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2351049	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2351051	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2351052	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2351054	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2351055	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2351056	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2882567	0.88[CEU][hapmap];0.92[EUR][1000 genomes]
rs2882568	0.88[CEU][hapmap];0.81[CHB][hapmap];0.91[EUR][1000 genomes]
rs2882569	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4129901	0.80[EUR][1000 genomes]
rs4757337	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6486248	0.80[EUR][1000 genomes]
rs6486255	0.91[EUR][1000 genomes]
rs6486256	0.93[EUR][1000 genomes]
rs6486257	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6486258	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7110995	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7114130	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7117412	0.80[EUR][1000 genomes]
rs7119351	0.92[EUR][1000 genomes]
rs7120823	0.81[EUR][1000 genomes]
rs7122109	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7124172	0.81[EUR][1000 genomes]
rs7124173	0.81[EUR][1000 genomes]
rs7126988	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7128205	0.92[EUR][1000 genomes]
rs7129098	0.80[EUR][1000 genomes]
rs7481721	0.80[EUR][1000 genomes]
rs7483088	0.86[EUR][1000 genomes]
rs7924910	0.86[EUR][1000 genomes]
rs7930552	0.93[EUR][1000 genomes]
rs7935111	0.80[EUR][1000 genomes]
rs7936873	0.93[EUR][1000 genomes]
rs7939544	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7943582	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050475	chr11:15584061-15620602	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2351058	SPON1	cis	cerebellum	SCAN
rs2351058	CALCB	cis	parietal	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:15585200-15610600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:15588200-15606000	Weak transcription	Left Ventricle	heart
3	chr11:15592400-15601200	Weak transcription	Right Atrium	heart
4	chr11:15596400-15601600	Weak transcription	Psoas Muscle	Psoas
5	chr11:15596800-15601400	Weak transcription	Stomach Mucosa	stomach
6	chr11:15597000-15603000	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr11:15597600-15603200	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr11:15598400-15602600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr11:15599400-15601600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
10	chr11:15600000-15602600	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr11:15600600-15602000	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr11:15600800-15601800	Enhancers	Duodenum Mucosa	Duodenum
13	chr11:15600800-15602800	Enhancers	K562	blood
14	chr11:15601000-15601800	Enhancers	Primary B cells from cord blood	blood

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