Variant report

Variant	rs12257451
Chromosome Location	chr10:22639903-22639904
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	chr10:22637253..22640890-chr10:22643528..22645990,3	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10828304	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11012941	0.81[YRI][hapmap]
rs11012953	0.83[AMR][1000 genomes]
rs11012955	0.85[YRI][hapmap];0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11012956	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11012958	0.85[YRI][hapmap]
rs11012960	0.85[YRI][hapmap];0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11012961	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11012965	0.85[YRI][hapmap];0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11012967	0.85[YRI][hapmap];0.83[AMR][1000 genomes]
rs11012973	0.83[AMR][1000 genomes]
rs12240474	1.00[YRI][hapmap]
rs12240495	1.00[MEX][hapmap]
rs12245533	0.85[YRI][hapmap];0.83[AMR][1000 genomes]
rs12254277	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12257095	0.84[ASW][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12258156	0.85[YRI][hapmap];0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12258433	0.84[YRI][hapmap]
rs12259102	0.84[ASW][hapmap];0.90[YRI][hapmap]
rs16922183	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2026632	0.85[YRI][hapmap];0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6482207	0.88[YRI][hapmap];0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7069551	1.00[MEX][hapmap]
rs7073585	0.85[YRI][hapmap];0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7080076	1.00[MEX][hapmap]
rs7083243	0.83[AMR][1000 genomes]
rs7084083	0.81[AFR][1000 genomes]
rs7088499	0.84[ASW][hapmap];0.92[LWK][hapmap];0.86[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7101082	0.89[YRI][hapmap];0.81[AFR][1000 genomes]
rs729111	0.84[ASW][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7893841	0.85[YRI][hapmap];0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7893987	0.89[YRI][hapmap];0.82[AFR][1000 genomes]
rs7900105	0.85[YRI][hapmap];0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7904484	0.85[YRI][hapmap];0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv825292	chr10:22560347-22642200	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv825294	chr10:22590627-22644910	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv825295	chr10:22591275-22643207	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv894950	chr10:22591830-22639903	Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv894958	chr10:22594765-22639903	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:22639600-22640000	Enhancers	HUES48 Cell Line	embryonic stem cell

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