Variant report

Variant	rs72946813
Chromosome Location	chr4:143380830-143380831
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:143327592..143330271-chr4:143378912..143381553,2	MCF-7	breast:
2	chr4:143360196..143364725-chr4:143377583..143382490,5	MCF-7	breast:
3	chr4:143377586..143379612-chr4:143380437..143382675,2	MCF-7	breast:
4	chr4:143380779..143382663-chr4:143383129..143385303,2	MCF-7	breast:
5	chr4:143371682..143373996-chr4:143377086..143381453,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000109452	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10434184	0.91[EUR][1000 genomes]
rs11930849	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11947710	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs58048713	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs59456427	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72946807	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72946826	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72946834	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72946835	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72946839	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72946853	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72946855	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72946865	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72946870	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72946874	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72946877	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72946889	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72946892	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72946896	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72946898	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72946900	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72948704	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72948712	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72948719	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498005	chr4:142515689-143502988	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv830100	chr4:143216951-143393305	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr4:143367000-143392600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:143369200-143410600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr4:143371600-143400800	Weak transcription	Aorta	Aorta
4	chr4:143377600-143381000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr4:143380000-143382400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:143380200-143381200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr4:143380200-143382800	Weak transcription	A549	lung
8	chr4:143380400-143390400	Weak transcription	Esophagus	oesophagus
9	chr4:143380400-143394800	Weak transcription	Pancreas	Pancrea
10	chr4:143380600-143381600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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