Variant report

Variant	rs1933705
Chromosome Location	chr1:192660401-192660402
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10754022	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10754023	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10801140	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10921229	0.89[CEU][hapmap]
rs10921232	0.85[ASN][1000 genomes]
rs10921233	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10921234	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10921236	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10921237	0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10921238	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11576197	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12037932	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12042114	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12118386	0.92[CEU][hapmap];0.85[GIH][hapmap];0.91[TSI][hapmap];0.87[EUR][1000 genomes]
rs12403636	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12729745	0.81[AFR][1000 genomes]
rs12734103	0.87[AFR][1000 genomes]
rs12749077	0.87[AFR][1000 genomes]
rs12751300	0.82[AFR][1000 genomes]
rs12755754	0.86[YRI][hapmap]
rs16834649	0.82[AFR][1000 genomes]
rs16834665	0.81[AFR][1000 genomes]
rs1933703	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs1933704	0.89[YRI][hapmap]
rs1933706	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1933709	0.81[EUR][1000 genomes]
rs1933711	0.86[EUR][1000 genomes]
rs1933712	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1933713	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1933714	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1933715	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2104248	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2146607	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2146609	0.81[LWK][hapmap];0.96[YRI][hapmap]
rs2181445	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2208960	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2296020	0.81[CEU][hapmap];0.84[CHB][hapmap]
rs2296021	0.85[CEU][hapmap];0.81[GIH][hapmap]
rs2369892	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34208957	0.88[AFR][1000 genomes]
rs34494529	0.88[AFR][1000 genomes]
rs34725057	0.88[AFR][1000 genomes]
rs34889140	0.81[AFR][1000 genomes]
rs35164338	0.86[AFR][1000 genomes]
rs35234624	0.89[YRI][hapmap]
rs35511097	0.87[AFR][1000 genomes]
rs35556099	0.88[AFR][1000 genomes]
rs35557412	0.86[AFR][1000 genomes]
rs35679411	0.85[AFR][1000 genomes]
rs35766898	0.81[AFR][1000 genomes]
rs35918607	0.88[AFR][1000 genomes]
rs4995860	0.85[AFR][1000 genomes]
rs4995861	0.84[AFR][1000 genomes]
rs6695451	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6699054	0.88[EUR][1000 genomes]
rs6702192	0.97[EUR][1000 genomes]
rs71639163	0.86[AFR][1000 genomes]
rs7540755	0.85[EUR][1000 genomes]
rs7549322	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9287126	0.85[CEU][hapmap];0.81[GIH][hapmap]
rs961480	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv548660	chr1:192609268-192945348	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1933705	RGS21	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192659200-192663200	Enhancers	Stomach Mucosa	stomach
2	chr1:192659600-192661200	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr1:192660000-192660800	Enhancers	H1 Cell Line	embryonic stem cell
4	chr1:192660000-192661000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:192660200-192660600	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr1:192660200-192661000	Weak transcription	Pancreatic Islets	Pancreatic Islet

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