Variant report

Variant	rs6048374
Chromosome Location	chr20:22806244-22806245
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:20)

rs_ID	r²[population]
rs1076749	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12625728	0.82[EUR][1000 genomes]
rs1411783	0.81[EUR][1000 genomes]
rs2207171	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2207173	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4815150	0.82[EUR][1000 genomes]
rs57014789	0.82[EUR][1000 genomes]
rs57418600	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs59800539	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6036220	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6036226	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6048366	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6048370	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6048371	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6082851	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61503703	0.84[EUR][1000 genomes]
rs73301685	0.82[EUR][1000 genomes]
rs879730	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs879731	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs926746	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912816	chr20:22757960-23062927	Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv3334	chr20:22773462-22818362	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22800200-22806600	Weak transcription	Ovary	ovary
2	chr20:22801600-22810200	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr20:22804000-22809000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr20:22804400-22806600	Weak transcription	Fetal Muscle Trunk	muscle
5	chr20:22804800-22807400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr20:22805000-22809600	Enhancers	Placenta	Placenta
7	chr20:22805200-22806600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr20:22805600-22809400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr20:22805600-22809400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr20:22806000-22806400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr20:22806000-22806400	Flanking Active TSS	NHEK	skin
12	chr20:22806200-22806400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr20:22806200-22806600	Enhancers	Placenta Amnion	Placenta Amnion
14	chr20:22806200-22806600	Flanking Active TSS	HMEC	breast
15	chr20:22806200-22814000	Weak transcription	A549	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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