Variant report

Variant	rs8004391
Chromosome Location	chr14:70692496-70692497
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:70691907..70694267-chr14:70697780..70699341,2	K562	blood:

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs12587023	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12590737	0.91[ASN][1000 genomes]
rs1469255	0.82[ASN][1000 genomes]
rs1469256	0.82[ASN][1000 genomes]
rs1999049	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1999050	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2022743	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55688571	0.90[ASN][1000 genomes]
rs55819700	0.96[ASN][1000 genomes]
rs56197954	0.96[ASN][1000 genomes]
rs58204263	0.99[ASN][1000 genomes]
rs61978216	0.83[EUR][1000 genomes]
rs61978217	0.83[EUR][1000 genomes]
rs61978220	0.87[EUR][1000 genomes]
rs61978221	0.87[EUR][1000 genomes]
rs61978222	0.87[EUR][1000 genomes]
rs61978248	0.87[EUR][1000 genomes]
rs61978250	0.87[EUR][1000 genomes]
rs61978251	0.87[EUR][1000 genomes]
rs61978255	0.91[EUR][1000 genomes]
rs61978257	0.91[EUR][1000 genomes]
rs61978259	0.91[EUR][1000 genomes]
rs61979460	0.91[EUR][1000 genomes]
rs61979461	0.91[EUR][1000 genomes]
rs61979462	0.91[EUR][1000 genomes]
rs61979464	0.91[EUR][1000 genomes]
rs61979466	0.91[EUR][1000 genomes]
rs61979467	0.91[EUR][1000 genomes]
rs61979481	0.91[EUR][1000 genomes]
rs61979482	0.91[EUR][1000 genomes]
rs61979483	0.91[EUR][1000 genomes]
rs61979484	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61979485	0.91[EUR][1000 genomes]
rs61979488	0.91[EUR][1000 genomes]
rs61979489	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61979490	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61979502	0.89[EUR][1000 genomes]
rs61979504	0.89[EUR][1000 genomes]
rs61979505	0.89[EUR][1000 genomes]
rs6573941	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573943	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66477892	0.90[ASN][1000 genomes]
rs66496471	0.91[ASN][1000 genomes]
rs6650512	0.92[ASN][1000 genomes]
rs66629175	0.91[ASN][1000 genomes]
rs66790139	0.91[ASN][1000 genomes]
rs67216814	0.99[ASN][1000 genomes]
rs67225044	0.91[ASN][1000 genomes]
rs67368416	0.94[ASN][1000 genomes]
rs67986564	0.88[ASN][1000 genomes]
rs68002282	0.88[ASN][1000 genomes]
rs68025966	0.98[ASN][1000 genomes]
rs68061000	0.91[ASN][1000 genomes]
rs68076268	0.91[ASN][1000 genomes]
rs7142682	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7145582	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7147026	1.00[CHB][hapmap];0.87[JPT][hapmap];0.94[ASN][1000 genomes]
rs7148933	0.96[ASN][1000 genomes]
rs7148993	0.94[ASN][1000 genomes]
rs72476793	0.88[ASN][1000 genomes]
rs72625690	0.99[ASN][1000 genomes]
rs72625691	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72731870	0.90[ASN][1000 genomes]
rs8003965	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8011983	0.94[ASN][1000 genomes]
rs8019979	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8020127	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes];0.99[ASN][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	nsv832826	chr14:70559589-70723464	Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv902075	chr14:70612618-70919016	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70691000-70696400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr14:70691000-70696400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr14:70691000-70703400	Weak transcription	K562	blood

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