Variant report

Variant	rs1283784
Chromosome Location	chr12:21953459-21953460
allele	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]
rs1283786	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1283823	0.82[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	1.00[AMR][1000 genomes]
rs73253058	1.00[AMR][1000 genomes]
rs73253059	1.00[AMR][1000 genomes]
rs73253061	1.00[AMR][1000 genomes]
rs829063	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs829073	0.82[YRI][hapmap];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	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
6	nsv470275	chr12:21938544-22126314	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21941800-21957400	Weak transcription	Adipose Nuclei	Adipose
2	chr12:21948000-21957800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr12:21949600-21961400	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr12:21950000-21954600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr12:21950800-21966200	Weak transcription	Fetal Heart	heart
6	chr12:21951600-21954000	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr12:21952400-21956000	Enhancers	Fetal Intestine Large	intestine
8	chr12:21952600-21955800	Enhancers	Fetal Intestine Small	intestine
9	chr12:21952800-21954200	Strong transcription	Liver	Liver
10	chr12:21952800-21955000	Enhancers	Duodenum Mucosa	Duodenum
11	chr12:21953200-21957600	Weak transcription	Left Ventricle	heart
12	chr12:21953200-21957600	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr12:21953400-21966800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr12:21953400-21971600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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