Variant report

Variant	rs16924275
Chromosome Location	chr12:21910151-21910152
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:21497810..21500061-chr12:21907433..21910379,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11830174	1.00[AMR][1000 genomes]
rs11835091	1.00[AMR][1000 genomes]
rs16924290	1.00[AMR][1000 genomes]
rs16924297	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16924303	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16924306	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16924331	1.00[AMR][1000 genomes]
rs2035870	1.00[AMR][1000 genomes]
rs34093632	1.00[AMR][1000 genomes]
rs55797463	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56216123	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57686151	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60002697	1.00[AMR][1000 genomes]
rs74069113	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74069115	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74069117	1.00[AMR][1000 genomes]
rs74069147	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74069148	1.00[AMR][1000 genomes]
rs74069149	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74069163	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74069164	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74069165	1.00[AMR][1000 genomes]
rs74069166	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74069354	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043936	chr12:21562673-21979030	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv557741	chr12:21578559-22169854	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv469164	chr12:21688900-21966701	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv557744	chr12:21688900-21966701	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv832349	chr12:21749093-21930695	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21904400-21910600	Weak transcription	NHDF-Ad	bronchial
2	chr12:21904600-21916600	Weak transcription	Stomach Smooth Muscle	stomach
3	chr12:21904600-21918600	Weak transcription	Fetal Stomach	stomach
4	chr12:21905000-21914400	Weak transcription	NHLF	lung
5	chr12:21905400-21918200	Weak transcription	Colon Smooth Muscle	Colon
6	chr12:21909600-21911400	Enhancers	Fetal Lung	lung
7	chr12:21910000-21910400	Active TSS	Liver	Liver

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