Variant report

Variant	rs7004950
Chromosome Location	chr8:39730440-39730441
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10086641	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10093420	0.90[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs10112921	0.83[EUR][1000 genomes]
rs10283355	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10958571	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12156145	0.82[AMR][1000 genomes]
rs13273328	0.81[AMR][1000 genomes]
rs1808344	0.81[AMR][1000 genomes]
rs2010450	0.82[AMR][1000 genomes]
rs2111742	0.81[AMR][1000 genomes]
rs2340950	0.81[AMR][1000 genomes]
rs28375138	0.80[AMR][1000 genomes]
rs28445172	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2879895	0.89[AMR][1000 genomes]
rs34208092	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34907746	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3808606	0.83[AMR][1000 genomes]
rs3824259	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs4472503	0.82[AMR][1000 genomes]
rs6474179	0.81[EUR][1000 genomes]
rs6474181	0.87[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs6474182	0.87[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs6474185	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6474189	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6474190	0.81[AMR][1000 genomes]
rs6474191	0.81[AMR][1000 genomes]
rs6474192	0.81[AMR][1000 genomes]
rs6980572	0.80[AMR][1000 genomes]
rs6984521	0.81[EUR][1000 genomes]
rs6989075	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6998587	0.90[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs7012629	0.90[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs7017446	0.82[AMR][1000 genomes]
rs7816397	0.82[AMR][1000 genomes]
rs7825536	0.90[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs7838952	0.82[AMR][1000 genomes]
rs7838957	0.82[AMR][1000 genomes]
rs7839240	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs888447	0.81[AMR][1000 genomes]
rs9298585	0.82[AMR][1000 genomes]
rs9657182	0.82[AMR][1000 genomes]
rs9657183	0.81[AMR][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	nsv539555	chr8:39683857-40673606	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv508505	chr8:39730094-39791331	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:39728400-39730600	Enhancers	HUVEC	blood vessel
2	chr8:39728600-39731400	Enhancers	Fetal Lung	lung
3	chr8:39729400-39730600	Enhancers	Fetal Brain Male	brain
4	chr8:39730000-39730600	Enhancers	Lung	lung

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