Variant report

Variant	rs712092
Chromosome Location	chr1:224734654-224734655
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:224726760..224729001-chr1:224731332..224734709,3	MCF-7	breast:
2	chr1:224733738..224735319-chr1:225115375..225117831,2	K562	blood:

Variant related genes	Relation type
ENSG00000185842	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10799582	0.92[CEU][hapmap];0.89[CHB][hapmap];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10916635	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10916636	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10916637	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10916638	0.88[EUR][1000 genomes]
rs10916639	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10916640	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12033478	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12043625	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12057775	0.83[CEU][hapmap];0.86[CHB][hapmap];0.89[EUR][1000 genomes]
rs12062991	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12068420	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12072482	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1317810	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1499283	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16849369	0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2050625	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2794804	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2794808	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4654047	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61825839	0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61825840	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61825841	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6656824	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs698277	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs698280	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs712068	0.92[CEU][hapmap];0.94[CHB][hapmap];0.86[JPT][hapmap];0.81[AFR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs712070	0.81[AFR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs712071	0.92[CEU][hapmap];0.93[CHB][hapmap];0.87[JPT][hapmap];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs712072	0.92[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs712073	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs712074	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs712075	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs712076	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs712082	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs712084	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs712085	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs712087	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7541415	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs791391	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs791393	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs791508	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs791509	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs791510	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs791511	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs791512	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs880368	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs983948	0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs985301	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs989755	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[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	nsv8868	chr1:224383023-224752531	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224731600-224746400	Weak transcription	Psoas Muscle	Psoas
2	chr1:224732800-224734800	Enhancers	NHDF-Ad	bronchial
3	chr1:224733400-224735200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:224734000-224735200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr1:224734600-224734800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:224734600-224734800	Flanking Active TSS	Pancreas	Pancrea
7	chr1:224734600-224734800	Enhancers	HMEC	breast
8	chr1:224734600-224735200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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