Variant report

Variant	rs16919228
Chromosome Location	chr8:54414046-54414047
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11993719	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1471410	0.86[AFR][1000 genomes]
rs1477961	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16919215	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28507351	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4873750	0.89[AFR][1000 genomes]
rs6983022	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7357373	0.88[AFR][1000 genomes]
rs899106	0.89[AFR][1000 genomes]
rs899108	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][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	esv2752674	chr8:54181147-54483747	Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54409600-54415200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:54409600-54426600	Weak transcription	Stomach Smooth Muscle	stomach
3	chr8:54410000-54416200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr8:54410200-54414800	Weak transcription	Right Ventricle	heart
5	chr8:54410200-54421600	Weak transcription	Ovary	ovary
6	chr8:54411800-54433400	Weak transcription	Colon Smooth Muscle	Colon
7	chr8:54412800-54415200	Weak transcription	Fetal Heart	heart
8	chr8:54412800-54416400	Weak transcription	Left Ventricle	heart
9	chr8:54413200-54421400	Weak transcription	Aorta	Aorta

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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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