Variant report

Variant	rs12048648
Chromosome Location	chr1:166674984-166674985
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:166663444..166668542-chr1:166672111..166675762,6	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10494465	0.83[CHD][hapmap]
rs12027513	1.00[CEU][hapmap];0.86[CHB][hapmap];0.84[EUR][1000 genomes]
rs12027782	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12028885	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12030491	0.86[EUR][1000 genomes]
rs12033500	1.00[CEU][hapmap];0.87[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];0.83[TSI][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12036000	0.86[EUR][1000 genomes]
rs12039131	0.83[CHD][hapmap]
rs12041530	0.80[CHB][hapmap]
rs12046226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1442501	0.80[CHB][hapmap];0.83[CHD][hapmap]
rs17472444	0.80[CHB][hapmap];0.83[CHD][hapmap]
rs1837937	0.80[CHB][hapmap]
rs2119901	0.80[CHB][hapmap]
rs2184662	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3845545	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55872343	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56164733	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61670955	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6427019	0.80[CHB][hapmap];0.83[CHD][hapmap]
rs6427020	0.80[CHB][hapmap];0.83[CHD][hapmap]
rs6427021	0.80[CHB][hapmap]
rs6670455	0.86[CHB][hapmap];0.83[CHD][hapmap]
rs6677448	0.80[CHB][hapmap];0.83[CHD][hapmap]
rs72701363	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72701393	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72701401	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7546913	0.80[CHB][hapmap];0.83[CHD][hapmap]
rs7548967	0.93[AMR][1000 genomes];0.86[EUR][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	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	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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:166671800-166676000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr1:166673600-166676000	Enhancers	Primary hematopoietic stem cells	blood
3	chr1:166674400-166675000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:166674400-166675000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:166674800-166675000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:166674800-166675200	Active TSS	K562	blood

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