Variant report

Variant	rs12564103
Chromosome Location	chr1:47594935-47594936
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11211420	0.85[CEU][hapmap];0.89[CHB][hapmap];0.81[CHD][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.83[AMR][1000 genomes]
rs11211424	0.85[CEU][hapmap];0.89[CHB][hapmap];0.83[AMR][1000 genomes]
rs11582907	0.85[CEU][hapmap];0.89[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes]
rs11584372	0.82[CEU][hapmap];0.89[CHB][hapmap];0.83[AMR][1000 genomes]
rs11584400	0.83[AMR][1000 genomes]
rs11588382	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11589237	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12022394	1.00[LWK][hapmap]
rs12406683	0.85[CEU][hapmap];0.89[CHB][hapmap];0.83[AMR][1000 genomes]
rs12408055	0.85[CEU][hapmap];0.84[CHB][hapmap]
rs12408938	0.82[CEU][hapmap];0.89[CHB][hapmap];0.83[AMR][1000 genomes]
rs17102950	1.00[MEX][hapmap]
rs17102972	0.85[CEU][hapmap];0.89[CHB][hapmap];0.81[AMR][1000 genomes]
rs17102977	0.85[CEU][hapmap];0.89[CHB][hapmap];0.81[AMR][1000 genomes]
rs17102978	0.85[CEU][hapmap];0.89[CHB][hapmap];0.83[CHD][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes]
rs1832992	0.81[AMR][1000 genomes]
rs1847225	0.86[JPT][hapmap]
rs2055498	1.00[MEX][hapmap]
rs2202221	0.83[AMR][1000 genomes]
rs2202222	1.00[ASW][hapmap];0.85[CEU][hapmap];0.89[CHB][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes]
rs2221324	0.83[AMR][1000 genomes]
rs2236332	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2292059	0.85[CEU][hapmap];0.89[CHB][hapmap];0.81[CHD][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes]
rs2292060	0.85[CEU][hapmap];0.89[CHB][hapmap];0.81[CHD][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes]
rs3920100	0.83[AMR][1000 genomes]
rs4531326	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4926919	0.83[AMR][1000 genomes]
rs55694114	0.83[AMR][1000 genomes]
rs59244133	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61165610	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6668901	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs74073884	0.83[AMR][1000 genomes]
rs74073885	0.83[AMR][1000 genomes]
rs74074332	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs74074335	0.89[AMR][1000 genomes]
rs741957	0.83[AMR][1000 genomes]
rs7549836	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9332978	1.00[LWK][hapmap]
rs9699826	0.85[CEU][hapmap];0.89[CHB][hapmap];1.00[GIH][hapmap];0.91[MEX][hapmap];0.90[TSI][hapmap]
rs9699991	0.85[CEU][hapmap];0.89[CHB][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes]
rs9700422	0.81[AMR][1000 genomes]
rs9793989	0.85[CEU][hapmap];0.89[CHB][hapmap];0.81[CHD][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2763300	chr1:47358532-47628774	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv916813	chr1:47435635-47666179	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv870705	chr1:47533705-47620126	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv871010	chr1:47533705-47637999	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv870899	chr1:47548974-47637999	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv945929	chr1:47578751-47617495	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island lncRNA	2 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	chr1:47587000-47595200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr1:47593200-47597000	Enhancers	Liver	Liver
3	chr1:47594200-47595400	Enhancers	HepG2	liver
4	chr1:47594600-47595400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:47594800-47596000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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