Variant report

Variant	rs6830128
Chromosome Location	chr4:122697551-122697552
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:122672244..122674867-chr4:122697032..122699058,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10002280	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10857086	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13105974	0.93[ASN][1000 genomes]
rs13106485	0.99[ASN][1000 genomes]
rs1532968	0.97[ASN][1000 genomes]
rs17517624	0.89[ASN][1000 genomes]
rs2661553	0.99[ASN][1000 genomes]
rs2661555	0.97[ASN][1000 genomes]
rs2706791	0.99[ASN][1000 genomes]
rs2706792	0.99[ASN][1000 genomes]
rs2706793	0.99[ASN][1000 genomes]
rs2706796	0.90[ASN][1000 genomes]
rs28665553	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4240261	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4295291	0.99[ASN][1000 genomes]
rs4342205	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4370153	0.83[EUR][1000 genomes]
rs4519820	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4833774	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6534317	0.82[EUR][1000 genomes]
rs6534319	0.80[AMR][1000 genomes]
rs6534321	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6534325	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6819870	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6823686	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6836290	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6838198	0.97[ASN][1000 genomes]
rs7661641	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7665098	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7690095	0.96[ASN][1000 genomes]
rs7690991	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9999982	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817261	chr4:122085173-123020068	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv997539	chr4:122544104-123274266	Genic enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Enhancers 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 target site	21 gene(s)	inside rSNPs	diseases
3	nsv530157	chr4:122557302-123248756	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv461635	chr4:122633535-122720999	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv595357	chr4:122633535-122720999	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr4:122693000-122697800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr4:122695400-122705800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr4:122695600-122697800	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr4:122695600-122698200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:122695600-122698800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr4:122696200-122698200	Weak transcription	Fetal Heart	heart
7	chr4:122697400-122697600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr4:122697400-122699600	Enhancers	GM12878-XiMat	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links