Variant report

Variant	rs6554229
Chromosome Location	chr4:55904741-55904742
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10018070	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13101523	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13112551	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13142103	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13144674	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13144875	0.90[ASN][1000 genomes]
rs28744674	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34227858	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4259119	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4333248	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4457012	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4566712	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4571397	0.91[ASN][1000 genomes]
rs4577640	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4582210	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4864529	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4864530	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4864949	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5018667	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57528857	0.95[ASN][1000 genomes]
rs6554225	0.80[ASN][1000 genomes]
rs6554226	0.92[ASN][1000 genomes]
rs6554228	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66459610	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66506770	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6816847	0.90[ASN][1000 genomes]
rs6820336	0.97[ASN][1000 genomes]
rs6820371	0.97[ASN][1000 genomes]
rs6844468	0.92[ASN][1000 genomes]
rs6845385	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7658751	0.80[ASN][1000 genomes]
rs7661259	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7677709	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7679094	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][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	nsv526344	chr4:55522488-56231119	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv829939	chr4:55856771-56005011	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv432603	chr4:55877236-55970782	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv524342	chr4:55891531-55921535	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55896800-55905000	Enhancers	HMEC	breast
2	chr4:55900400-55904800	Weak transcription	Right Atrium	heart
3	chr4:55901800-55905400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:55902800-55905200	Enhancers	Placenta Amnion	Placenta Amnion
5	chr4:55903400-55905200	Weak transcription	Aorta	Aorta
6	chr4:55903600-55905400	Enhancers	Fetal Lung	lung
7	chr4:55904000-55905400	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr4:55904200-55905200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr4:55904200-55905200	Enhancers	Adipose Nuclei	Adipose
10	chr4:55904200-55905400	Enhancers	Left Ventricle	heart
11	chr4:55904400-55905000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr4:55904400-55905000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr4:55904400-55905000	Enhancers	Fetal Heart	heart
14	chr4:55904400-55905400	Enhancers	Stomach Smooth Muscle	stomach
15	chr4:55904600-55905000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr4:55904600-55905000	Enhancers	Colon Smooth Muscle	Colon
17	chr4:55904600-55905000	Enhancers	Pancreas	Pancrea
18	chr4:55904600-55905000	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr4:55904600-55905200	Enhancers	Skeletal Muscle Female	skeletal muscle

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