Variant report

Variant	rs12293329
Chromosome Location	chr11:62746840-62746841
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	chr11:62744966..62746983-chr11:62749557..62751344,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1004836	0.81[ASW][hapmap];0.82[LWK][hapmap];0.88[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11231281	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11231282	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11231283	0.95[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11231291	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11231292	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11231293	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11231298	0.85[AMR][1000 genomes]
rs11820657	0.88[MKK][hapmap];0.85[AMR][1000 genomes]
rs11828074	0.93[ASW][hapmap];0.97[LWK][hapmap];0.89[MKK][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11828160	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12276943	1.00[ASW][hapmap];0.91[LWK][hapmap];0.89[MKK][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12289572	0.84[YRI][hapmap]
rs12293966	0.81[ASW][hapmap];0.85[LWK][hapmap];0.92[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12295679	0.86[ASW][hapmap];0.92[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56057734	0.85[AFR][1000 genomes]
rs57066277	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57932955	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58855055	0.85[AMR][1000 genomes]
rs60359411	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60642802	0.84[AFR][1000 genomes]
rs61380596	0.85[AMR][1000 genomes]
rs61510834	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs67603137	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7125335	0.96[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7126908	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73492018	0.85[AMR][1000 genomes]
rs7950683	0.92[AFR][1000 genomes];1.00[AMR][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	nsv532283	chr11:62201358-62863475	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1433 gene(s)	inside rSNPs	diseases
2	nsv1041770	chr11:62610353-62871767	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	263 gene(s)	inside rSNPs	diseases
3	esv34011	chr11:62652779-62993702	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62743200-62753600	Weak transcription	Right Atrium	heart
2	chr11:62744800-62750800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:62745000-62747000	Weak transcription	Spleen	Spleen
4	chr11:62746000-62751800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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