Variant report

Variant	rs1427790
Chromosome Location	chr12:106591866-106591867
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11112902	1.00[JPT][hapmap]
rs11112903	1.00[JPT][hapmap]
rs1148434	0.84[EUR][1000 genomes]
rs1148436	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1318909	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1318910	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1427787	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1427789	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2047546	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2059770	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2062494	1.00[ASN][1000 genomes]
rs7959267	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040534	chr12:106528394-106619175	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106589800-106592600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr12:106589800-106593400	Weak transcription	Psoas Muscle	Psoas
3	chr12:106590000-106592800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr12:106590400-106593800	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr12:106590600-106592000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr12:106591000-106592400	Enhancers	Adipose Nuclei	Adipose
7	chr12:106591200-106592200	Enhancers	Ovary	ovary
8	chr12:106591400-106592000	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr12:106591400-106592200	Enhancers	Right Atrium	heart
10	chr12:106591600-106592200	Enhancers	Right Ventricle	heart
11	chr12:106591800-106592000	Enhancers	Liver	Liver
12	chr12:106591800-106592200	Enhancers	Fetal Brain Male	brain
13	chr12:106591800-106592200	Enhancers	Fetal Heart	heart
14	chr12:106591800-106592200	Flanking Active TSS	NHDF-Ad	bronchial
15	chr12:106591800-106592400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr12:106591800-106592400	Enhancers	Fetal Lung	lung

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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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