Variant report

Variant	rs56383511
Chromosome Location	chr1:210933927-210933928
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10465689	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10465690	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11119591	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11119592	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11119604	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1122901	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12117136	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12122556	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12122589	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12122593	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12122869	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12133838	0.87[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs12134429	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12134632	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12137464	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12139273	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12139474	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12142954	0.82[EUR][1000 genomes]
rs12143524	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12564968	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12566698	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1340124	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1340125	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1934612	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1934613	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1934614	0.85[EUR][1000 genomes]
rs2185384	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4951462	0.83[EUR][1000 genomes]
rs4951605	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56264689	0.86[EUR][1000 genomes]
rs60406489	0.82[ASN][1000 genomes]
rs61829490	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61829492	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61829493	0.86[EUR][1000 genomes]
rs61829496	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61829499	0.85[EUR][1000 genomes]
rs6694502	0.85[EUR][1000 genomes]
rs73067497	0.93[ASN][1000 genomes]
rs73069504	0.89[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs73069505	0.89[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs73069563	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73069564	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73069573	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7519357	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7532333	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7541814	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][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	nsv873148	chr1:210665583-210994339	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv873153	chr1:210900481-210994339	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv999018	chr1:210907239-210999306	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210931800-210934800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:210932200-210935600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:210932800-210937200	Weak transcription	HSMM	muscle
4	chr1:210933600-210937800	Weak transcription	HSMMtube	muscle

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