Variant report

Variant	rs4375428
Chromosome Location	chr11:8032193-8032194
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10769863	1.00[EUR][1000 genomes]
rs12574950	1.00[EUR][1000 genomes]
rs4514405	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56395552	1.00[EUR][1000 genomes]
rs60024227	1.00[EUR][1000 genomes]
rs7107979	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73396713	1.00[EUR][1000 genomes]
rs7926626	0.91[AMR][1000 genomes];1.00[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	nsv1052808	chr11:8011647-8129191	Bivalent Enhancer Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8010800-8033400	Weak transcription	Right Atrium	heart
2	chr11:8020000-8033000	Weak transcription	NHDF-Ad	bronchial
3	chr11:8022000-8033200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr11:8022000-8033200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr11:8022000-8033400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr11:8022200-8033600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr11:8022200-8037200	Weak transcription	HMEC	breast
8	chr11:8022800-8033000	Weak transcription	HSMM	muscle
9	chr11:8032000-8032600	Enhancers	Right Ventricle	heart
10	chr11:8032000-8032800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr11:8032000-8032800	Weak transcription	Aorta	Aorta

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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