Variant report

Variant	rs4379918
Chromosome Location	chr12:25463428-25463429
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10842528	0.82[EUR][1000 genomes]
rs10842529	0.83[EUR][1000 genomes]
rs10842531	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11047941	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11047943	0.82[EUR][1000 genomes]
rs11047944	0.82[EUR][1000 genomes]
rs11047945	0.82[EUR][1000 genomes]
rs11047946	0.82[EUR][1000 genomes]
rs11047947	0.82[EUR][1000 genomes]
rs11047948	0.82[EUR][1000 genomes]
rs11047949	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11519081	0.82[EUR][1000 genomes]
rs12228660	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12231590	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12366504	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12810616	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12811282	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3885678	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3885680	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4257069	0.82[EUR][1000 genomes]
rs4257070	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4264235	0.82[EUR][1000 genomes]
rs4277200	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4438135	0.82[EUR][1000 genomes]
rs4438136	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4442633	0.81[EUR][1000 genomes]
rs4497495	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4539422	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4644713	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4963866	0.81[EUR][1000 genomes]
rs4963867	0.80[EUR][1000 genomes]
rs4963868	0.80[EUR][1000 genomes]
rs4963869	0.82[EUR][1000 genomes]
rs59307134	0.82[EUR][1000 genomes]
rs60655178	0.82[EUR][1000 genomes]
rs7299445	0.82[EUR][1000 genomes]
rs7299741	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7300820	0.81[EUR][1000 genomes]
rs7302911	0.82[EUR][1000 genomes]
rs7304544	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7307496	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7314063	0.81[EUR][1000 genomes]
rs7314324	0.82[EUR][1000 genomes]
rs7485340	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][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	esv10137	chr12:25455511-25469350	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv898928	chr12:25458354-25499342	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:25461600-25464200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr12:25462200-25464000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr12:25462200-25464400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr12:25462200-25464600	Weak transcription	NHDF-Ad	bronchial
5	chr12:25462600-25464200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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