Variant report

Variant	rs11111946
Chromosome Location	chr12:104637478-104637479
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	chr12:104637030..104638778-chr12:104641326..104643343,3	K562	blood:
2	chr12:104633027..104635535-chr12:104637306..104638927,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10400561	0.89[AFR][1000 genomes]
rs10745994	0.81[AFR][1000 genomes]
rs11111931	0.93[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs12296767	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12308914	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12310731	0.87[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs12311576	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12314235	0.91[EUR][1000 genomes]
rs12322184	0.93[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs12322245	0.95[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs17035297	1.00[CEU][hapmap];0.91[YRI][hapmap];0.89[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs56406045	0.82[EUR][1000 genomes]
rs57554346	0.91[EUR][1000 genomes]
rs59871203	0.86[EUR][1000 genomes]
rs61524019	0.93[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs73392581	0.91[EUR][1000 genomes]
rs73392582	0.91[EUR][1000 genomes]
rs73392588	0.89[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs73392593	0.93[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs73394507	0.91[EUR][1000 genomes]
rs73394524	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73394536	0.95[EUR][1000 genomes]
rs7958851	0.80[AFR][1000 genomes]
rs7975161	0.82[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	esv1842062	chr12:104531180-104638773	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	n/a
2	nsv899493	chr12:104548613-104703228	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv899494	chr12:104561521-104806232	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv1046606	chr12:104606617-104763734	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv1038609	chr12:104613847-104764981	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv541587	chr12:104613847-104764981	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104632200-104640000	Weak transcription	Right Atrium	heart
2	chr12:104636600-104638200	Enhancers	A549	lung
3	chr12:104637400-104638200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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