Variant report

Variant	rs28492902
Chromosome Location	chr14:32346323-32346324
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10133717	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10133942	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10139417	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10140206	0.85[EUR][1000 genomes]
rs11622367	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11622373	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28687916	0.89[EUR][1000 genomes]
rs4423335	0.85[EUR][1000 genomes]
rs55764900	1.00[ASN][1000 genomes]
rs6571472	1.00[ASN][1000 genomes]
rs8008468	1.00[ASN][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	nsv564180	chr14:31958566-32368934	Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv564181	chr14:31958761-32363980	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv564182	chr14:32110519-32584337	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv1046526	chr14:32110537-32567426	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv901593	chr14:32282564-32350371	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
6	nsv526200	chr14:32308511-32454372	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:32345800-32350200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr14:32346000-32346400	Enhancers	Psoas Muscle	Psoas
3	chr14:32346000-32346600	Enhancers	Fetal Muscle Leg	muscle
4	chr14:32346200-32346400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr14:32346200-32346400	Enhancers	Muscle Satellite Cultured Cells	--
6	chr14:32346200-32346400	Enhancers	Fetal Lung	lung
7	chr14:32346200-32346400	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr14:32346200-32346400	Bivalent Enhancer	HepG2	liver
9	chr14:32346200-32346400	Enhancers	HUVEC	blood vessel
10	chr14:32346200-32346600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr14:32346200-32346600	Flanking Active TSS	NHDF-Ad	bronchial
12	chr14:32346200-32346800	Enhancers	K562	blood
13	chr14:32346200-32347200	Flanking Active TSS	Adipose Nuclei	Adipose

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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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