Variant report

Variant	rs11990141
Chromosome Location	chr8:10806204-10806205
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10094007	0.88[AMR][1000 genomes]
rs10096634	0.88[AMR][1000 genomes]
rs10098549	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10106574	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10107544	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10111178	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10112255	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10903334	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11250100	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11985330	0.88[AMR][1000 genomes]
rs11995188	0.82[AMR][1000 genomes]
rs28546463	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28712086	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57698321	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7816172	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv522127	chr8:10797831-10815515	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv521721	chr8:10802102-10836472	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv519822	chr8:10803617-10815515	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv518360	chr8:10805015-10816873	Enhancers Bivalent Enhancer Weak transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10797600-10807200	Weak transcription	Right Atrium	heart
2	chr8:10802800-10806400	Weak transcription	Fetal Heart	heart
3	chr8:10805200-10807600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:10805800-10808000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:10806000-10806600	Enhancers	Fetal Muscle Leg	muscle
6	chr8:10806000-10807000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr8:10806000-10807000	Bivalent Enhancer	Fetal Muscle Trunk	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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