Variant report

Variant	rs11516176
Chromosome Location	chr12:123936016-123936017
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:123918432..123921016-chr12:123934034..123936294,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11497308	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11497312	0.86[EUR][1000 genomes]
rs11497313	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11507744	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs11522340	0.81[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs11534428	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11559494	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11560820	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28829651	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3087496	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34031619	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35322317	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4078291	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4479070	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6606747	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7975636	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9697264	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9697616	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9723046	0.89[EUR][1000 genomes]
rs9777813	0.90[EUR][1000 genomes]
rs9778112	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038841	chr12:123757305-124087671	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv541622	chr12:123757305-124087671	Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking 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 miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv1035223	chr12:123795559-123991706	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	esv1822004	chr12:123919287-124013451	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123933400-123942200	Weak transcription	Thymus	Thymus
2	chr12:123934200-123942400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr12:123934800-123936600	Weak transcription	HepG2	liver
4	chr12:123934800-123939400	Weak transcription	K562	blood
5	chr12:123936000-123937200	Enhancers	Placenta	Placenta

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