Variant report

Variant	rs11990594
Chromosome Location	chr8:106733008-106733009
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11989376	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11995327	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12545946	0.81[AFR][1000 genomes]
rs3779776	0.81[AFR][1000 genomes]
rs61430165	0.87[AFR][1000 genomes]
rs73305056	0.86[AFR][1000 genomes]
rs73305060	0.81[AFR][1000 genomes]
rs73305093	0.86[AFR][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	nsv1021369	chr8:106493317-107243322	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv831418	chr8:106648456-106833333	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 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	chr8:106647400-106735200	Weak transcription	K562	blood
2	chr8:106721000-106735400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr8:106729200-106736400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr8:106729200-106742600	Weak transcription	Right Ventricle	heart
5	chr8:106729400-106733200	Weak transcription	Right Atrium	heart
6	chr8:106730600-106733400	Weak transcription	Ovary	ovary
7	chr8:106732800-106733200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr8:106733000-106733400	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr8:106733000-106733400	Enhancers	Left Ventricle	heart

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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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