Variant report

Variant	rs1873583
Chromosome Location	chr3:70040847-70040848
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:70038710..70041426-chr3:70048792..70051266,2	K562	blood:

Variant related genes	Relation type
ENSG00000240405	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1027233	0.80[AMR][1000 genomes]
rs1157456	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11923682	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11926368	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12495230	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1388649	0.82[AMR][1000 genomes]
rs1491686	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1491698	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1492055	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1492056	0.80[AMR][1000 genomes]
rs1546075	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17727959	0.83[ASN][1000 genomes]
rs1873584	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1907647	0.83[ASN][1000 genomes]
rs2131122	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28524674	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34790356	0.80[ASN][1000 genomes]
rs35180789	0.84[ASN][1000 genomes]
rs3967688	0.83[ASN][1000 genomes]
rs56351003	0.84[ASN][1000 genomes]
rs576	0.83[ASN][1000 genomes]
rs6549255	0.84[ASN][1000 genomes]
rs6549260	0.83[ASN][1000 genomes]
rs6549261	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6549262	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6549264	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6549265	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6549266	0.83[AMR][1000 genomes]
rs6772684	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6784666	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6809508	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7634340	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7634564	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7647661	0.83[AMR][1000 genomes]
rs902711	0.84[ASN][1000 genomes]
rs902712	0.84[ASN][1000 genomes]
rs9310178	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9310179	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9310180	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs956436	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9815287	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9834141	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9839734	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9840397	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9840590	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9849031	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9851891	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9863457	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9868203	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533396	chr3:69964029-70538306	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1873583	RP11-460N16.1	cis	Artery Aorta	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:70037600-70045200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr3:70040800-70041200	Enhancers	Aorta	Aorta
3	chr3:70040800-70041200	Enhancers	Fetal Muscle Leg	muscle

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