Variant report

Variant	rs12969708
Chromosome Location	chr18:45214447-45214448
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10853556	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10853557	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11661407	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11662922	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12458400	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12606589	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12606616	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12953904	1.00[CEU][hapmap];0.94[CHB][hapmap];0.81[JPT][hapmap]
rs12954007	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12964840	1.00[CEU][hapmap];0.95[CHB][hapmap]
rs34054587	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34282727	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34958854	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56026317	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs71355315	0.92[AFR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv2286	chr18:45181897-45226628	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv3425854	chr18:45188942-45336590	Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv576823	chr18:45207893-45264035	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45213800-45214800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr18:45214000-45215600	Weak transcription	Fetal Brain Male	brain
3	chr18:45214400-45214800	Weak transcription	Brain Germinal Matrix	brain

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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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