Variant report

Variant	rs4951462
Chromosome Location	chr1:210989908-210989909
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10465689	1.00[CEU][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10465690	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11119591	0.81[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs11119592	1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs11119604	0.86[CEU][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs11119610	0.85[ASN][1000 genomes]
rs1122901	0.86[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes]
rs12117136	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs12122556	0.89[EUR][1000 genomes]
rs12122589	0.89[EUR][1000 genomes]
rs12122593	0.89[EUR][1000 genomes]
rs12122869	0.89[EUR][1000 genomes]
rs12122965	1.00[JPT][hapmap]
rs12129155	1.00[JPT][hapmap]
rs12134429	1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12134632	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12137464	0.81[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs12139273	0.81[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs12139474	0.81[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs12143524	1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs12564968	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12566698	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1340124	0.88[EUR][1000 genomes]
rs1340125	1.00[CHB][hapmap];0.88[EUR][1000 genomes]
rs1934612	0.87[CEU][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs1934613	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs1934614	0.87[CEU][hapmap];0.80[EUR][1000 genomes]
rs2185384	0.81[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs2884382	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs4113643	1.00[JPT][hapmap]
rs4951605	0.87[CEU][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs55809603	0.85[ASN][1000 genomes]
rs55921530	0.85[ASN][1000 genomes]
rs56383511	0.83[EUR][1000 genomes]
rs61829490	0.83[EUR][1000 genomes]
rs61829492	0.87[EUR][1000 genomes]
rs61829496	0.88[EUR][1000 genomes]
rs61829499	0.80[EUR][1000 genomes]
rs6540621	1.00[CHB][hapmap]
rs6694502	0.86[CEU][hapmap];0.80[EUR][1000 genomes]
rs73069563	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73069564	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73069573	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73069579	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7519357	0.87[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes]
rs7532333	0.84[CEU][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs7532949	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7541814	0.80[EUR][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	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
4	nsv832503	chr1:210948760-211103163	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210977600-210993200	Weak transcription	HSMM	muscle
2	chr1:210988000-210990000	Enhancers	HSMMtube	muscle
3	chr1:210988400-210990000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
4	chr1:210989000-210991400	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr1:210989200-210990000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:210989200-210990000	Enhancers	Fetal Heart	heart
7	chr1:210989400-210990600	Weak transcription	Primary B cells from peripheral blood	blood
8	chr1:210989600-210990000	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr1:210989600-210990000	Enhancers	Brain Angular Gyrus	brain
10	chr1:210989800-210990600	Weak transcription	Brain Hippocampus Middle	brain

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