Variant report

Variant	rs11953478
Chromosome Location	chr5:112769659-112769660
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10038017	0.94[EUR][1000 genomes]
rs10040533	1.00[EUR][1000 genomes]
rs10040770	0.94[EUR][1000 genomes]
rs10044201	1.00[EUR][1000 genomes]
rs10051109	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10058535	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10059129	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10070990	1.00[EUR][1000 genomes]
rs10074346	1.00[EUR][1000 genomes]
rs10075447	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10478121	1.00[EUR][1000 genomes]
rs10519344	0.94[EUR][1000 genomes]
rs11954016	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11954410	1.00[EUR][1000 genomes]
rs11958734	0.94[EUR][1000 genomes]
rs12108831	0.94[EUR][1000 genomes]
rs13356396	0.85[EUR][1000 genomes]
rs13361059	0.94[EUR][1000 genomes]
rs13361060	0.94[EUR][1000 genomes]
rs13362158	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1882620	0.94[EUR][1000 genomes]
rs2068922	0.94[EUR][1000 genomes]
rs28494592	0.94[EUR][1000 genomes]
rs55794576	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56875463	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73779001	0.94[EUR][1000 genomes]
rs73779022	1.00[EUR][1000 genomes]
rs73781513	0.94[EUR][1000 genomes]
rs73781514	0.94[EUR][1000 genomes]
rs7700940	0.84[EUR][1000 genomes]
rs7719166	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9285877	0.94[EUR][1000 genomes]
rs9326881	0.94[EUR][1000 genomes]
rs9326882	0.94[EUR][1000 genomes]
rs9326883	0.94[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 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	chr5:112762000-112786000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:112764400-112779200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:112764600-112786400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr5:112764800-112786800	Weak transcription	NHEK	skin
5	chr5:112768400-112770600	Weak transcription	Right Ventricle	heart
6	chr5:112769000-112769800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr5:112769000-112770400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr5:112769400-112770600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr5:112769600-112769800	Enhancers	Fetal Stomach	stomach
10	chr5:112769600-112770200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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