Variant report

Variant	rs12291050
Chromosome Location	chr11:57654138-57654139
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	chr11:57651734..57654571-chr11:57656022..57657939,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10128604	1.00[AMR][1000 genomes]
rs11229099	1.00[AMR][1000 genomes]
rs11229100	1.00[AMR][1000 genomes]
rs11229120	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11229140	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11229145	1.00[AMR][1000 genomes]
rs11229149	1.00[AMR][1000 genomes]
rs11229156	1.00[AMR][1000 genomes]
rs11501572	1.00[AMR][1000 genomes]
rs11570208	1.00[AMR][1000 genomes]
rs11822155	1.00[AMR][1000 genomes]
rs12271969	1.00[AMR][1000 genomes]
rs12273207	0.83[AFR][1000 genomes]
rs12278818	1.00[AMR][1000 genomes]
rs12283063	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12284645	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12286450	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12291343	1.00[AMR][1000 genomes]
rs12292393	1.00[AMR][1000 genomes]
rs17152027	1.00[AMR][1000 genomes]
rs2076895	1.00[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	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv530621	chr11:57139699-57703639	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv1040913	chr11:57315006-57696122	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
5	nsv1054205	chr11:57544264-58358509	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
6	nsv897589	chr11:57623815-58052357	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 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	chr11:57653600-57658000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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