Variant report

Variant	rs73253058
Chromosome Location	chr12:21931316-21931317
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1283784	1.00[AMR][1000 genomes]
rs1283786	1.00[AMR][1000 genomes]
rs1283823	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7295037	1.00[AMR][1000 genomes]
rs7309395	1.00[AMR][1000 genomes]
rs73249213	1.00[AMR][1000 genomes]
rs73249216	1.00[AMR][1000 genomes]
rs73249278	1.00[AMR][1000 genomes]
rs73249280	1.00[AMR][1000 genomes]
rs73249297	1.00[AMR][1000 genomes]
rs73253050	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73253059	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73253061	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs829063	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs829073	1.00[AMR][1000 genomes]
rs829075	1.00[AMR][1000 genomes]
rs852813	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	nsv1051073	chr12:21910875-22271209	Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 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	chr12:21928800-21932800	Enhancers	Fetal Lung	lung
2	chr12:21929200-21932000	Enhancers	Liver	Liver
3	chr12:21929600-21932200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr12:21929600-21932600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr12:21929600-21941800	Weak transcription	Pancreas	Pancrea
6	chr12:21930000-21931600	Weak transcription	Colon Smooth Muscle	Colon
7	chr12:21930000-21931800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr12:21930600-21933200	Weak transcription	Fetal Heart	heart
9	chr12:21930800-21931800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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