Variant report

Variant	rs16924234
Chromosome Location	chr12:21863076-21863077
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	chr12:21861711..21863736-chr12:21869922..21872687,2	K562	blood:
2	chr12:21861443..21863156-chr12:21927780..21929833,2	K562	blood:

Variant related genes	Relation type
ENSG00000121361	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1012354	1.00[AMR][1000 genomes]
rs12099489	1.00[AMR][1000 genomes]
rs12099853	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1319662	1.00[AMR][1000 genomes]
rs16924232	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2014779	1.00[AMR][1000 genomes]
rs2077044	1.00[AMR][1000 genomes]
rs55870549	1.00[AMR][1000 genomes]
rs56994698	1.00[AMR][1000 genomes]
rs58527132	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58744869	1.00[AMR][1000 genomes]
rs58829974	1.00[AMR][1000 genomes]
rs59527449	1.00[AMR][1000 genomes]
rs59541120	1.00[AMR][1000 genomes]
rs60486179	1.00[AMR][1000 genomes]
rs73249228	1.00[AMR][1000 genomes]
rs73249231	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73249234	1.00[AMR][1000 genomes]
rs73249241	1.00[AMR][1000 genomes]
rs73249248	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73249265	1.00[AMR][1000 genomes]
rs73249266	1.00[AMR][1000 genomes]
rs73249268	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73249275	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73249276	1.00[AMR][1000 genomes]
rs73249290	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73249302	1.00[AMR][1000 genomes]
rs73251103	1.00[AMR][1000 genomes]
rs736047	1.00[AMR][1000 genomes]
rs74067628	1.00[AMR][1000 genomes]
rs74067685	1.00[AMR][1000 genomes]
rs988598	0.87[AFR][1000 genomes];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:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21862000-21864400	Enhancers	Fetal Lung	lung
2	chr12:21862400-21864600	Enhancers	Adipose Nuclei	Adipose
3	chr12:21862600-21863200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr12:21862600-21863600	Enhancers	Colon Smooth Muscle	Colon
5	chr12:21862600-21863800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:21862800-21864000	Weak transcription	NHDF-Ad	bronchial
7	chr12:21862800-21864800	Enhancers	Rectal Smooth Muscle	rectum
8	chr12:21862800-21871200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:21863000-21864000	Weak transcription	Stomach Smooth Muscle	stomach

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