Variant report

Variant	rs4147072
Chromosome Location	chr1:166172420-166172421
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	chr1:166162627..166165550-chr1:166172239..166174984,2	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10494453	0.85[CHB][hapmap];0.81[AMR][1000 genomes]
rs10494455	0.91[CHB][hapmap];0.81[AMR][1000 genomes]
rs10494456	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10753713	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10753714	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10800198	0.90[CHB][hapmap]
rs10800199	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10800200	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10800201	0.94[EUR][1000 genomes]
rs10800202	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10918381	0.81[ASN][1000 genomes]
rs10918383	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10918384	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10918386	0.94[EUR][1000 genomes]
rs10918387	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10918388	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10918401	0.93[EUR][1000 genomes]
rs10918403	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10918405	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10918406	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12023523	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12028067	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12031538	0.89[CHB][hapmap];0.81[AMR][1000 genomes]
rs12083547	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12097110	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12136704	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12402371	0.81[ASN][1000 genomes]
rs12409766	0.81[ASN][1000 genomes]
rs12734750	0.91[CHB][hapmap];0.81[ASN][1000 genomes]
rs12760939	0.91[EUR][1000 genomes]
rs1349526	0.92[EUR][1000 genomes]
rs1349527	0.92[EUR][1000 genomes]
rs1451600	0.93[EUR][1000 genomes]
rs1451606	0.94[EUR][1000 genomes]
rs1560570	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16856734	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1864791	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs28568389	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4378185	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4391646	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4556335	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4656484	0.91[CHB][hapmap];0.81[ASN][1000 genomes]
rs4656485	0.91[CHB][hapmap];0.82[ASN][1000 genomes]
rs56132740	0.93[EUR][1000 genomes]
rs61835144	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61835149	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61835150	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61835151	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6658248	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6658513	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6687444	0.93[EUR][1000 genomes]
rs6696964	0.81[ASN][1000 genomes]
rs6700193	0.83[ASN][1000 genomes]
rs715421	0.90[CHB][hapmap];0.81[AMR][1000 genomes]
rs724139	0.91[CHB][hapmap];0.83[ASN][1000 genomes]
rs7552225	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs896403	0.93[EUR][1000 genomes]
rs896404	0.93[EUR][1000 genomes]
rs9787101	0.90[CHB][hapmap];0.81[AMR][1000 genomes]
rs9787239	0.91[CHB][hapmap]

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	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	esv3332610	chr1:166111288-166282689	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1012972	chr1:166166695-166206473	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:166171800-166172800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr1:166172000-166172600	Enhancers	HMEC	breast
3	chr1:166172000-166172800	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr1:166172000-166173000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:166172400-166172800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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