Variant report

Variant	rs11994464
Chromosome Location	chr8:67196053-67196054
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11995816	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12541169	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12543948	0.92[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12546108	0.96[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12546226	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12547088	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12674697	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12674856	0.92[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12676571	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12680750	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12680884	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs16932794	0.92[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs16932797	0.92[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4737226	0.92[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4737778	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4737781	0.92[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs57145208	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs58730001	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs62511162	0.83[EUR][1000 genomes]
rs62511185	0.83[EUR][1000 genomes]
rs62511883	0.96[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs62511907	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs62511940	0.83[EUR][1000 genomes]
rs62512577	0.83[EUR][1000 genomes]
rs6982433	0.80[AMR][1000 genomes]
rs6986855	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7010810	0.96[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7010964	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7016951	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7819028	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7830497	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7834454	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7839082	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7840104	0.92[ASN][1000 genomes]
rs7840490	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9643397	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3414665	chr8:66936816-67381935	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv1017345	chr8:67184975-67209954	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv6235	chr8:67188081-67232737	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67187000-67197200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:67194200-67203800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:67195600-67196400	Weak transcription	Fetal Muscle Trunk	muscle
4	chr8:67195600-67196600	Weak transcription	Fetal Muscle Leg	muscle
5	chr8:67196000-67196800	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr8:67196000-67197000	Enhancers	Fetal Heart	heart

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