Variant report

Variant	rs1827473
Chromosome Location	chr1:47484790-47484791
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1021827	0.94[CEU][hapmap];0.82[EUR][1000 genomes]
rs1021828	0.83[EUR][1000 genomes]
rs1039468	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1039469	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10890443	0.89[CEU][hapmap];0.83[EUR][1000 genomes]
rs10890444	0.83[EUR][1000 genomes]
rs10890445	0.94[CEU][hapmap];0.83[EUR][1000 genomes]
rs11211424	0.81[JPT][hapmap]
rs11211436	0.87[JPT][hapmap]
rs11211441	0.87[ASN][1000 genomes]
rs11211445	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12030385	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12041324	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12045381	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12140891	0.89[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12141009	0.86[JPT][hapmap];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12406683	0.81[JPT][hapmap]
rs1502908	0.89[CEU][hapmap]
rs1502909	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1553390	0.86[JPT][hapmap];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1553391	0.85[CEU][hapmap]
rs17102972	0.81[JPT][hapmap]
rs17102977	0.81[JPT][hapmap]
rs1827474	0.89[CEU][hapmap];0.83[EUR][1000 genomes]
rs1963620	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1986925	0.83[AMR][1000 genomes]
rs2036462	1.00[CEU][hapmap];0.86[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2292059	0.86[JPT][hapmap]
rs2897114	0.83[AMR][1000 genomes]
rs4926728	0.85[ASN][1000 genomes]
rs4926776	0.86[ASN][1000 genomes]
rs55909645	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs66753730	0.80[AMR][1000 genomes]
rs72637973	0.83[ASN][1000 genomes]
rs9326151	0.94[CEU][hapmap];0.83[EUR][1000 genomes]
rs9326152	0.94[CEU][hapmap];0.83[EUR][1000 genomes]
rs9699991	0.81[JPT][hapmap]
rs9701888	0.80[JPT][hapmap];0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv871958	chr1:47350374-47517123	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1009338	chr1:47358532-47555253	Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv2763300	chr1:47358532-47628774	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv870695	chr1:47363893-47502714	Bivalent/Poised TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv871288	chr1:47363893-47507808	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv871377	chr1:47363893-47517123	Bivalent Enhancer ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv546166	chr1:47407739-47495605	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv870674	chr1:47416441-47517123	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv916813	chr1:47435635-47666179	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
10	nsv871717	chr1:47449486-47524264	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47481000-47487200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:47484400-47487200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:47484400-47489000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:47484600-47485000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links