Variant report

Variant	rs1392131
Chromosome Location	chr1:56079541-56079542
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:32)

rs_ID	r²[population]
rs10749702	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11206625	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11206629	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11206636	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11206637	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11206638	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11206639	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11807964	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12026971	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12040862	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12041985	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12132336	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12139752	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1392128	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1392129	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1392130	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1392132	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1587432	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1604016	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17417716	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56169646	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61776375	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61776377	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6588566	0.85[EUR][1000 genomes]
rs6675850	0.81[EUR][1000 genomes]
rs7513395	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7525515	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7544458	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7546899	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7555929	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7556008	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9662650	0.97[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	nsv10184	chr1:55728755-56084833	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv461617	chr1:56055190-56123510	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv546303	chr1:56055190-56123510	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv1014866	chr1:56059054-56129092	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56063200-56089000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:56075400-56080000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr1:56077200-56079800	Weak transcription	Fetal Lung	lung
4	chr1:56077200-56086000	Weak transcription	Aorta	Aorta
5	chr1:56077400-56081400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr1:56077800-56079600	Enhancers	Osteobl	bone
7	chr1:56078000-56079600	Enhancers	NHDF-Ad	bronchial
8	chr1:56079200-56080800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr1:56079200-56083800	Weak transcription	HSMM	muscle
10	chr1:56079400-56082400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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