Variant report

Variant	rs12287430
Chromosome Location	chr11:46166591-46166592
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10769187	0.87[EUR][1000 genomes]
rs11038774	0.96[ASN][1000 genomes]
rs11038775	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11038780	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11038781	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11038783	0.84[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs11601057	0.91[EUR][1000 genomes]
rs1970848	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7118159	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7120013	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7924340	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7950474	0.92[EUR][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	nsv511476	chr11:46161054-46169659	Weak transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46164600-46170800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:46164800-46170800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:46165400-46170400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr11:46166400-46166600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:46166400-46166600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr11:46166400-46166600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr11:46166400-46166600	Enhancers	A549	lung
8	chr11:46166400-46167000	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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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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