Variant report

Variant	rs12082938
Chromosome Location	chr1:166644487-166644488
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:166630170..166632723-chr1:166642991..166645828,4	K562	blood:
2	chr1:166630331..166631963-chr1:166643323..166644976,2	K562	blood:
3	chr1:166640499..166644852-chr1:166656070..166659050,4	K562	blood:
4	chr1:166642691..166644852-chr1:166657176..166659778,2	K562	blood:

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10047082	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10494466	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10800253	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10800256	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10918553	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10918554	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10918567	0.81[EUR][1000 genomes]
rs11585016	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12022833	0.95[ASN][1000 genomes]
rs12032695	0.85[ASN][1000 genomes]
rs12074816	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12074860	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12406568	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1631056	0.86[ASN][1000 genomes]
rs17472904	0.86[ASN][1000 genomes]
rs3125820	0.86[ASN][1000 genomes]
rs34311259	0.89[ASN][1000 genomes]
rs3904697	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3904700	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3904701	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4068473	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4090281	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4320765	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4393133	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4475724	0.81[ASN][1000 genomes]
rs4657587	0.86[EUR][1000 genomes]
rs471764	0.80[ASN][1000 genomes]
rs473746	0.84[ASN][1000 genomes]
rs475264	0.86[ASN][1000 genomes]
rs482782	0.85[ASN][1000 genomes]
rs482850	0.85[ASN][1000 genomes]
rs483138	0.84[ASN][1000 genomes]
rs484070	0.84[ASN][1000 genomes]
rs500437	0.82[ASN][1000 genomes]
rs500568	0.84[ASN][1000 genomes]
rs503960	0.84[ASN][1000 genomes]
rs505012	0.82[ASN][1000 genomes]
rs505135	0.84[ASN][1000 genomes]
rs511809	0.84[ASN][1000 genomes]
rs514307	0.84[ASN][1000 genomes]
rs519135	0.85[ASN][1000 genomes]
rs524397	0.85[ASN][1000 genomes]
rs525948	0.80[ASN][1000 genomes]
rs529740	0.84[ASN][1000 genomes]
rs530690	0.84[ASN][1000 genomes]
rs532412	0.84[ASN][1000 genomes]
rs535889	0.86[ASN][1000 genomes]
rs536773	0.86[ASN][1000 genomes]
rs537720	0.81[ASN][1000 genomes]
rs537782	0.84[ASN][1000 genomes]
rs542999	0.87[ASN][1000 genomes]
rs553928	0.85[ASN][1000 genomes]
rs556269	0.80[ASN][1000 genomes]
rs563206	0.98[ASN][1000 genomes]
rs566841	0.97[ASN][1000 genomes]
rs568776	0.84[ASN][1000 genomes]
rs568821	0.84[ASN][1000 genomes]
rs579545	0.84[ASN][1000 genomes]
rs580432	0.84[ASN][1000 genomes]
rs7517690	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7523559	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7530194	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7540624	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916491	chr1:166000783-166948513	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	esv2757759	chr1:166491879-166650985	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv2758975	chr1:166491879-166650985	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv2752389	chr1:166625342-166706342	Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	3 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	chr1:166644000-166644800	Enhancers	K562	blood
2	chr1:166644400-166644800	Enhancers	A549	lung

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