Variant report

Variant	rs1973666
Chromosome Location	chr2:190062633-190062634
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	chr2:190062458..190066163-chr2:190067446..190071057,3	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10165257	0.88[ASN][1000 genomes]
rs1016622	0.81[AFR][1000 genomes]
rs10166385	0.89[ASN][1000 genomes]
rs10172607	0.86[ASN][1000 genomes]
rs10173224	0.88[ASN][1000 genomes]
rs10184895	0.86[ASN][1000 genomes]
rs10755002	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10931401	0.86[ASN][1000 genomes]
rs10931403	0.86[ASN][1000 genomes]
rs10931405	0.80[ASN][1000 genomes]
rs11901914	0.90[ASN][1000 genomes]
rs12105389	0.81[AFR][1000 genomes]
rs12474942	0.86[ASN][1000 genomes]
rs12999125	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13006065	0.92[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs13015183	0.92[ASN][1000 genomes]
rs13028226	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13031609	0.80[ASN][1000 genomes]
rs13408928	0.90[ASN][1000 genomes]
rs13411992	0.89[ASN][1000 genomes]
rs13413518	0.90[ASN][1000 genomes]
rs1356161	0.89[ASN][1000 genomes]
rs1356165	0.85[AFR][1000 genomes]
rs1356166	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1464135	0.88[ASN][1000 genomes]
rs1515866	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1533618	0.86[ASN][1000 genomes]
rs1546617	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1913892	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1983318	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2351631	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2351632	0.86[ASN][1000 genomes]
rs2351633	0.90[ASN][1000 genomes]
rs4667266	0.81[AFR][1000 genomes]
rs4667268	0.82[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs4667270	0.90[ASN][1000 genomes]
rs4667271	0.86[ASN][1000 genomes]
rs6434334	0.81[ASN][1000 genomes]
rs6434337	0.80[ASN][1000 genomes]
rs6728877	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6732534	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7574281	0.81[ASN][1000 genomes]
rs7599222	0.89[ASN][1000 genomes]
rs7603704	0.83[ASN][1000 genomes]
rs939160	0.93[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	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv875613	chr2:189999011-190324685	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 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	chr2:190056800-190069400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:190057200-190068200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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