Variant report

Variant	rs12257327
Chromosome Location	chr10:22639707-22639708
allele	A/C
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: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10508643	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11012884	1.00[AMR][1000 genomes]
rs11012929	1.00[AMR][1000 genomes]
rs11012930	1.00[AMR][1000 genomes]
rs11012946	0.84[YRI][hapmap]
rs11012959	0.93[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11012963	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11813663	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12241581	0.82[YRI][hapmap]
rs12249265	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12253809	1.00[AMR][1000 genomes]
rs16922161	1.00[AMR][1000 genomes]
rs2026631	0.87[YRI][hapmap];0.83[AFR][1000 genomes]
rs7075793	0.89[YRI][hapmap];0.83[AFR][1000 genomes]
rs7084298	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7088482	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7092238	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7094794	1.00[AMR][1000 genomes]
rs73596583	1.00[AMR][1000 genomes]
rs73596584	1.00[AMR][1000 genomes]
rs73596585	1.00[AMR][1000 genomes]
rs73596586	1.00[AMR][1000 genomes]
rs7904329	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7911562	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7913154	1.00[AMR][1000 genomes]
rs7913454	1.00[AMR][1000 genomes]
rs9971241	1.00[YRI][hapmap];0.96[AFR][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	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	esv1816646	chr10:22594765-22639707	Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Genic enhancers 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
6	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:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:22639600-22639800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
2	chr10:22639600-22640000	Enhancers	HUES48 Cell Line	embryonic stem cell

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