Variant report

Variant	rs11990732
Chromosome Location	chr8:1981707-1981708
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12550500	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28561745	1.00[ASN][1000 genomes]
rs34578829	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6999774	1.00[ASN][1000 genomes]
rs6999922	1.00[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	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:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1975200-1983200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr8:1979200-1981800	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr8:1981400-1982000	Enhancers	Right Atrium	heart
4	chr8:1981400-1982400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:1981400-1985000	Enhancers	Fetal Heart	heart
6	chr8:1981600-1981800	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
7	chr8:1981600-1981800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
8	chr8:1981600-1981800	Enhancers	Right Ventricle	heart
9	chr8:1981600-1982000	Bivalent Enhancer	NH-A	brain
10	chr8:1981600-1982400	Enhancers	Left Ventricle	heart
11	chr8:1981600-1982400	Enhancers	Spleen	Spleen

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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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