Variant report

Variant	rs28402711
Chromosome Location	chr8:2125001-2125002
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10100112	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10216450	1.00[AMR][1000 genomes]
rs10216452	1.00[AMR][1000 genomes]
rs17064786	1.00[AMR][1000 genomes]
rs17064839	1.00[AMR][1000 genomes]
rs17064842	1.00[AMR][1000 genomes]
rs28478201	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28490407	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28525329	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28668728	1.00[AMR][1000 genomes]
rs34620424	1.00[AMR][1000 genomes]
rs62500423	1.00[AMR][1000 genomes]
rs7829100	1.00[AMR][1000 genomes]
rs7829365	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7831244	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7838865	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9987137	1.00[AMR][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	nsv889712	chr8:1591412-2337777	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:2118600-2128800	Weak transcription	Spleen	Spleen
2	chr8:2119400-2128200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:2119400-2130400	Weak transcription	Pancreas	Pancrea
4	chr8:2121600-2128800	Weak transcription	Right Atrium	heart
5	chr8:2122800-2126000	Weak transcription	Fetal Thymus	thymus
6	chr8:2122800-2129600	Weak transcription	Right Ventricle	heart
7	chr8:2123200-2130600	Weak transcription	Psoas Muscle	Psoas
8	chr8:2125000-2125200	Enhancers	Fetal Brain Male	brain

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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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