Variant report

Variant	rs74069169
Chromosome Location	chr12:21963018-21963019
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11835804	1.00[AMR][1000 genomes]
rs11837393	1.00[AMR][1000 genomes]
rs1352908	1.00[AMR][1000 genomes]
rs34524779	1.00[AMR][1000 genomes]
rs34811413	1.00[AMR][1000 genomes]
rs74069167	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74069170	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7956490	1.00[AMR][1000 genomes]
rs7966926	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:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21950800-21966200	Weak transcription	Fetal Heart	heart
2	chr12:21953400-21966800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr12:21953400-21971600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:21953800-21981000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr12:21954200-21972200	Weak transcription	Fetal Kidney	kidney
6	chr12:21954400-21980600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr12:21955800-21971600	Weak transcription	Ovary	ovary
8	chr12:21955800-21973600	Weak transcription	Right Ventricle	heart
9	chr12:21956800-21968400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:21957200-21971200	Strong transcription	Skeletal Muscle Female	skeletal muscle
11	chr12:21958200-21968200	Weak transcription	Adipose Nuclei	Adipose
12	chr12:21958200-21969200	Weak transcription	Left Ventricle	heart
13	chr12:21958200-21981200	Weak transcription	Fetal Muscle Leg	muscle
14	chr12:21958400-21980000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr12:21958400-22003000	Weak transcription	Psoas Muscle	Psoas
16	chr12:21960600-21963400	Strong transcription	Liver	Liver
17	chr12:21962200-21965000	Strong transcription	Skeletal Muscle Male	skeletal muscle
18	chr12:21962800-21963800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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