Variant report

Variant	rs12293418
Chromosome Location	chr11:32842149-32842150
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	chr11:32835440..32837233-chr11:32841490..32844292,2	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs11031923	1.00[AMR][1000 genomes]
rs11031946	1.00[AMR][1000 genomes]
rs11031948	1.00[AMR][1000 genomes]
rs11031996	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11031997	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11031998	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11032002	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11032003	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11032012	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11032013	1.00[AMR][1000 genomes]
rs11032014	1.00[AMR][1000 genomes]
rs11032016	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11032017	0.87[AFR][1000 genomes]
rs11032018	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11032020	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11032027	1.00[AMR][1000 genomes]
rs11500263	1.00[AMR][1000 genomes]
rs11500265	1.00[AMR][1000 genomes]
rs12271181	1.00[AMR][1000 genomes]
rs12271387	1.00[AMR][1000 genomes]
rs12272530	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12272806	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12275668	1.00[AMR][1000 genomes]
rs12276083	1.00[AMR][1000 genomes]
rs12276553	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12277487	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12278625	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12279736	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12280927	1.00[AMR][1000 genomes]
rs12281351	1.00[AMR][1000 genomes]
rs12282737	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12283079	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12284266	1.00[AMR][1000 genomes]
rs12284643	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12286034	1.00[AMR][1000 genomes]
rs12286067	1.00[AMR][1000 genomes]
rs12286919	1.00[AMR][1000 genomes]
rs12287838	1.00[AMR][1000 genomes]
rs12288379	1.00[AMR][1000 genomes]
rs12289390	1.00[AMR][1000 genomes]
rs12289661	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12290105	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12291223	1.00[AMR][1000 genomes]
rs12291922	1.00[AMR][1000 genomes]
rs12292567	1.00[AMR][1000 genomes]
rs12292854	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13377413	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758262	chr11:32714643-33049940	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	esv2759815	chr11:32714643-33049940	Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
3	esv2757434	chr11:32792784-32958609	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	esv34742	chr11:32796092-33004024	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	esv2753057	chr11:32796124-33061724	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
6	esv2753743	chr11:32796124-33084924	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
7	nsv897190	chr11:32801921-32951836	Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
8	nsv897191	chr11:32805169-32903263	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv897192	chr11:32828760-32903263	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv897193	chr11:32838288-32903263	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:32837400-32850800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:32839800-32842200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr11:32839800-32842200	Weak transcription	NHEK	skin
4	chr11:32839800-32843400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr11:32840000-32850200	Weak transcription	Liver	Liver
6	chr11:32841600-32844000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr11:32841800-32843200	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr11:32841800-32843800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr11:32841800-32844000	Enhancers	Hela-S3	cervix
10	chr11:32841800-32844200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr11:32841800-32846400	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr11:32842000-32842400	Enhancers	HMEC	breast
13	chr11:32842000-32843200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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