Variant report

Variant	rs12929225
Chromosome Location	chr16:12014622-12014623
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr16:12014567-12014878	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:12008780..12010777-chr16:12013125..12015097,2	MCF-7	breast:

Variant related genes	Relation type
GSPT1	TF binding region
ENSG00000103342	Chromatin interaction
ENSG00000266163	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12919041	1.00[AMR][1000 genomes]
rs12921338	1.00[AMR][1000 genomes]
rs12925925	1.00[AMR][1000 genomes]
rs12928585	1.00[AMR][1000 genomes]
rs12929152	1.00[AMR][1000 genomes]
rs12929268	1.00[AMR][1000 genomes]
rs33625	1.00[EUR][1000 genomes]
rs34913195	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35404320	1.00[AMR][1000 genomes]
rs35639837	1.00[AMR][1000 genomes]
rs35882999	1.00[AMR][1000 genomes]
rs36103657	1.00[AMR][1000 genomes]
rs467106	1.00[EUR][1000 genomes]
rs71383288	1.00[AMR][1000 genomes]
rs71383294	1.00[AMR][1000 genomes]
rs71383295	1.00[AMR][1000 genomes]
rs71383296	1.00[AMR][1000 genomes]
rs71383297	1.00[AMR][1000 genomes]
rs71383299	1.00[AMR][1000 genomes]
rs71383302	1.00[AMR][1000 genomes]
rs71385103	1.00[AMR][1000 genomes]
rs71385110	1.00[AMR][1000 genomes]
rs71385111	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7194287	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042660	chr16:11846873-12110435	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh 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	60 gene(s)	inside rSNPs	diseases
2	nsv571458	chr16:11925008-12087282	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv1735	chr16:11986963-12031597	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv974848	chr16:12005053-12020022	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
5	nsv524025	chr16:12009781-12016919	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
6	nsv905347	chr16:12010444-12243329	Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
7	esv3379697	chr16:12011449-12049700	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv1043096	chr16:12013915-12840769	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 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	chr16:12014600-12014800	Enhancers	Right Ventricle	heart
2	chr16:12014600-12015000	Enhancers	HepG2	liver

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