Variant report

Variant	rs73253050
Chromosome Location	chr12:21914910-21914911
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
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	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]
rs73253058	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73253059	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73253061	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs829063	0.85[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:6 , 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
6	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:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21904600-21916600	Weak transcription	Stomach Smooth Muscle	stomach
2	chr12:21904600-21918600	Weak transcription	Fetal Stomach	stomach
3	chr12:21905400-21918200	Weak transcription	Colon Smooth Muscle	Colon
4	chr12:21911400-21916400	Weak transcription	Fetal Lung	lung
5	chr12:21913200-21915600	Weak transcription	Liver	Liver
6	chr12:21913400-21918000	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr12:21914400-21915000	Enhancers	Muscle Satellite Cultured Cells	--
8	chr12:21914400-21918000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr12:21914600-21918600	Weak transcription	Ovary	ovary
10	chr12:21914600-21925800	Weak transcription	Fetal Kidney	kidney
11	chr12:21914800-21923400	Weak transcription	NHLF	lung

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dbSNP/dbVar ID: rs12345 /nsv7879
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