Variant report

Variant	rs12648940
Chromosome Location	chr4:158597106-158597107
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11100119	0.95[ASN][1000 genomes]
rs11100121	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11734795	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11934695	0.93[ASN][1000 genomes]
rs12502036	0.99[ASN][1000 genomes]
rs12510026	0.82[ASN][1000 genomes]
rs13103702	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13129289	0.82[ASN][1000 genomes]
rs1352694	0.89[ASN][1000 genomes]
rs1473501	0.85[ASN][1000 genomes]
rs1490531	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1532149	0.84[ASN][1000 genomes]
rs1532150	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1844644	0.85[ASN][1000 genomes]
rs2172016	0.85[ASN][1000 genomes]
rs4484348	0.93[ASN][1000 genomes]
rs4512050	0.95[ASN][1000 genomes]
rs4691429	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4691430	0.99[ASN][1000 genomes]
rs6536271	0.82[JPT][hapmap]
rs6839727	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs756334	0.82[JPT][hapmap]
rs7655036	0.85[ASN][1000 genomes]
rs9307971	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs964774	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020294	chr4:157722712-158691771	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv537313	chr4:157722712-158691771	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1018387	chr4:157959931-158764190	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv437448	chr4:158550319-158597491	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv993476	chr4:158550643-159202015	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:158595000-158598000	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr4:158595400-158597200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr4:158595800-158598400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr4:158596600-158598600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr4:158596800-158597400	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr4:158597000-158597400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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