Variant report

Variant	rs531398
Chromosome Location	chr1:166633033-166633034
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:166598296..166600144-chr1:166632730..166634319,2	K562	blood:
2	chr1:166624773..166627702-chr1:166632092..166634558,2	K562	blood:
3	chr1:166630705..166633257-chr1:166637385..166640067,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10737530	0.88[CEU][hapmap]
rs1372683	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs1372684	0.82[EUR][1000 genomes]
rs1442500	0.88[CEU][hapmap]
rs1561844	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs1899440	0.82[EUR][1000 genomes]
rs479799	0.82[EUR][1000 genomes]
rs486610	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs487459	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs488358	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs488426	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs489060	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs489144	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs491814	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs496879	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs503909	1.00[CEU][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs509587	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs510383	0.88[CEU][hapmap]
rs513797	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs513884	0.86[EUR][1000 genomes]
rs516754	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs521580	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs526625	1.00[CEU][hapmap]
rs528088	0.88[EUR][1000 genomes]
rs529293	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs534733	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs536782	0.88[CEU][hapmap]
rs539458	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs539548	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs549764	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs565064	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs565210	0.85[CEU][hapmap]
rs566146	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs569407	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs577317	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs579671	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs6682466	0.82[EUR][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:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
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