Variant report

Variant	rs12120171
Chromosome Location	chr1:221357967-221357968
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	chr1:221354828..221356579-chr1:221357094..221358671,2	K562	blood:
2	chr1:221354759..221357475-chr1:221357892..221360788,2	MCF-7	breast:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11118648	0.81[EUR][1000 genomes]
rs11118653	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11118662	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11118663	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11118664	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12121213	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12122167	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12123182	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12124230	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12126632	0.94[ASN][1000 genomes]
rs12127195	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12128432	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12140672	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1341619	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1442462	0.89[ASN][1000 genomes]
rs1539140	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1596173	0.85[EUR][1000 genomes]
rs17009398	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17009529	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17009536	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17009652	0.85[ASN][1000 genomes]
rs1935157	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2039956	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3920857	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4420085	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4427411	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4846687	0.80[ASN][1000 genomes]
rs4846690	0.88[ASN][1000 genomes]
rs57489853	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59093055	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs59098418	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61819242	0.81[EUR][1000 genomes]
rs6670400	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6679997	0.89[ASN][1000 genomes]
rs6693821	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67635817	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs715300	0.86[EUR][1000 genomes]
rs72742507	0.81[EUR][1000 genomes]
rs7511784	0.86[EUR][1000 genomes]
rs7515181	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7522767	0.88[ASN][1000 genomes]
rs7522861	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7539794	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7544056	0.87[EUR][1000 genomes]
rs7549116	0.86[ASN][1000 genomes]
rs7554672	0.84[EUR][1000 genomes]
rs9431057	0.94[EUR][1000 genomes]
rs9431425	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9431431	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv873199	chr1:221136672-221451217	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221351800-221360800	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr1:221356200-221358200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:221356200-221358200	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr1:221356800-221360400	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr1:221357400-221358200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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