Variant report

Variant	rs12810920
Chromosome Location	chr12:49134966-49134967
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs10783281	0.97[ASN][1000 genomes]
rs10783282	0.81[ASN][1000 genomes]
rs10783283	0.81[ASN][1000 genomes]
rs10875869	0.97[ASN][1000 genomes]
rs10875870	0.96[ASN][1000 genomes]
rs10875871	0.97[ASN][1000 genomes]
rs11168713	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11168714	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11168723	0.80[ASN][1000 genomes]
rs12172773	0.81[ASN][1000 genomes]
rs6580693	0.94[ASN][1000 genomes]
rs7954589	0.81[AFR][1000 genomes];0.81[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	esv3332169	chr12:49005807-49150691	Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12810920	KANSL2	cis	lung	GTEx
rs12810920	KANSL2	cis	Thyroid	GTEx
rs12810920	KANSL2	cis	Nerve Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49134600-49161800	Weak transcription	A549	lung

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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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