Variant report

Variant	rs1378530
Chromosome Location	chr11:106870742-106870743
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10502080	0.85[EUR][1000 genomes]
rs1455589	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1840570	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2445096	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2445097	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2445104	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2445114	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2462410	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2462411	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3109394	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3133357	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3133358	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs897442	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]

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	nsv531938	chr11:106760733-107156814	Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:106861600-106886200	Weak transcription	Fetal Brain Male	brain
2	chr11:106869000-106885400	Weak transcription	Fetal Lung	lung
3	chr11:106869400-106874600	Weak transcription	Fetal Heart	heart
4	chr11:106870600-106871400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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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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