Variant report

Variant	rs28490407
Chromosome Location	chr8:2116608-2116609
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10100112	1.00[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]
rs28402711	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28478201	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28525329	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28668728	1.00[AMR][1000 genomes]
rs34620424	1.00[AMR][1000 genomes]
rs62479960	1.00[ASN][1000 genomes]
rs62500423	1.00[AMR][1000 genomes]
rs7829100	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7829365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7831244	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7838865	1.00[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	chr8:2094000-2122400	Weak transcription	Right Ventricle	heart
2	chr8:2101000-2118000	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr8:2104600-2122200	Weak transcription	Fetal Thymus	thymus
4	chr8:2114200-2117000	Weak transcription	Pancreas	Pancrea
5	chr8:2116600-2116800	Genic enhancers	Left Ventricle	heart
6	chr8:2116600-2117200	ZNF genes & repeats	Spleen	Spleen
7	chr8:2116600-2117400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr8:2116600-2117800	Strong transcription	Skeletal Muscle Male	skeletal muscle

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Input of quick search could be:

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

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