Variant report

Variant	rs8020127
Chromosome Location	chr14:70686916-70686917
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:70683028..70687657-chr14:70688132..70693219,7	K562	blood:
2	chr14:70686436..70688109-chr14:70689739..70691554,2	MCF-7	breast:
3	chr14:70683028..70687657-chr14:70688132..70693219,5	K562	blood:

Variant related genes	Relation type
ENSG00000258422	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12587023	0.96[ASN][1000 genomes]
rs12590737	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1469255	0.83[ASN][1000 genomes]
rs1469256	0.83[ASN][1000 genomes]
rs1999049	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1999050	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2022743	0.96[ASN][1000 genomes]
rs55688571	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55819700	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56197954	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58204263	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61979484	0.83[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs61979489	0.92[ASN][1000 genomes]
rs61979490	0.94[ASN][1000 genomes]
rs6573941	0.84[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs6573943	0.99[ASN][1000 genomes]
rs66477892	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs66496471	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6650512	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66629175	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66790139	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67216814	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67225044	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67368416	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67986564	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs68002282	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs68025966	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs68061000	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs68076268	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7142682	0.90[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs7145582	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7147026	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7148933	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7148993	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72476793	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72625690	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72625691	0.99[ASN][1000 genomes]
rs72731870	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8003965	0.89[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs8004391	0.89[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs8011983	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8019979	0.90[AFR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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
3	nsv565008	chr14:70681037-70689272	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
4	nsv565009	chr14:70681037-70689390	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
5	esv3516672	chr14:70686699-70690597	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
6	nsv565010	chr14:70686916-70688844	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
7	nsv565011	chr14:70686916-70689272	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
8	nsv565012	chr14:70686916-70689286	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
9	nsv565013	chr14:70686916-70689390	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70656400-70688400	Weak transcription	Psoas Muscle	Psoas

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