Variant report

Variant	rs11986991
Chromosome Location	chr8:107792458-107792459
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:16)

rs_ID	r²[population]
rs11987857	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11989160	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11992673	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11993873	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs16875098	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16875115	0.84[AMR][1000 genomes]
rs56020043	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56246834	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56336546	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62514997	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6469081	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6999688	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7014065	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7014289	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7014296	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72684512	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831419	chr8:107624709-107827801	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1032991	chr8:107756661-107819035	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv611846	chr8:107778324-107819368	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:107783200-107798400	Weak transcription	Colon Smooth Muscle	Colon
2	chr8:107791400-107794200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr8:107791600-107792600	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr8:107792000-107792600	Enhancers	Psoas Muscle	Psoas
5	chr8:107792200-107803600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr8:107792400-107796000	Weak transcription	Skeletal Muscle Male	skeletal muscle

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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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