Variant report

Variant	rs60012828
Chromosome Location	chr8:61420635-61420636
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:61418332..61424473-chr8:61425755..61430943,9	K562	blood:
2	chr8:61419831..61423917-chr8:61427877..61431057,5	MCF-7	breast:
3	chr8:61419134..61423375-chr8:61426566..61429459,5	K562	blood:

Variant related genes	Relation type
ENSG00000104388	Chromatin interaction
ENSG00000251396	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs1384687	0.82[EUR][1000 genomes]
rs16926133	0.82[ASN][1000 genomes]
rs16926137	0.82[ASN][1000 genomes]
rs16926155	0.82[ASN][1000 genomes]
rs16926208	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16926270	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16926284	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16926294	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16926324	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16926354	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16926358	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1893273	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1941462	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2007283	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2178953	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2186985	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3735827	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55761966	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55831959	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55837608	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55841758	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56030634	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56114656	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56123131	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56141796	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56160504	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56165842	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56192263	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56332284	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56342714	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57297574	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57550331	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58183709	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59162154	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59861870	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60183060	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60369157	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60991551	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61120651	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6471892	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6980590	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6981694	0.82[ASN][1000 genomes]
rs7016685	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs714207	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72648529	0.82[ASN][1000 genomes]
rs72648531	0.82[ASN][1000 genomes]
rs72648552	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72648553	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72648562	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72648567	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72648576	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72648589	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72648590	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72648594	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72648597	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72648602	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72650405	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72650416	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72650417	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72650422	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72650425	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7817790	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7825009	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7825055	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7829407	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7830976	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7845982	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs922611	0.82[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	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv971314	chr8:61359401-61436209	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61413000-61428800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:61413000-61428800	Weak transcription	Esophagus	oesophagus
3	chr8:61416600-61427800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:61416800-61422000	Weak transcription	K562	blood
5	chr8:61420000-61421000	Weak transcription	Aorta	Aorta

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