Variant report

Variant	rs4888448
Chromosome Location	chr16:75734418-75734419
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:75730757..75732886-chr16:75734189..75736396,2	K562	blood:

Variant related genes	Relation type
ENSG00000240199	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs1030264	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10871314	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11643215	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12443899	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12445389	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12445937	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12446652	0.83[AMR][1000 genomes]
rs12596033	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12596083	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12596724	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12597472	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12598094	0.83[AMR][1000 genomes]
rs12598741	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12598751	0.84[EUR][1000 genomes]
rs12599322	0.83[AMR][1000 genomes]
rs12600066	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12600271	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17697211	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17764821	0.83[AMR][1000 genomes]
rs17764918	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1836547	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1979717	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2059261	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2164245	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2242406	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2278469	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2289063	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2903096	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35977374	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3743599	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3743603	0.83[AMR][1000 genomes]
rs4633754	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4887835	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4887836	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4887837	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4888436	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4888437	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4888440	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4888442	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4888449	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4888451	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4888452	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4888455	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56954102	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57208266	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58091977	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58264015	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58273293	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs58508930	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs58533792	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58597869	0.84[AMR][1000 genomes]
rs58719566	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs58846463	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59449831	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60393074	0.83[AMR][1000 genomes]
rs60775162	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs60895247	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs60952428	0.85[AMR][1000 genomes]
rs61036571	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61183686	0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61537885	0.84[EUR][1000 genomes]
rs6564268	0.83[AMR][1000 genomes]
rs7187419	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7187672	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7192453	0.81[ASN][1000 genomes]
rs7193066	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7195338	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs719574	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7499759	0.82[AMR][1000 genomes]
rs8048533	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8051713	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8053219	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8055329	0.84[EUR][1000 genomes]
rs8056968	0.82[AMR][1000 genomes]
rs8192516	0.82[AMR][1000 genomes]
rs963820	0.82[AMR][1000 genomes]
rs9788802	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931939	chr16:75261354-75765025	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv532562	chr16:75614947-76371158	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1062010	chr16:75628562-75825725	Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1064880	chr16:75628562-75895699	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv542960	chr16:75628562-75895699	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	nsv1065543	chr16:75631306-75800170	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	esv3390407	chr16:75701870-75751074	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv906930	chr16:75728261-75872464	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75731200-75734600	Weak transcription	Aorta	Aorta
2	chr16:75731200-75736200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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