Variant report

Variant	rs73278057
Chromosome Location	chr12:41883973-41883974
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17129355	1.00[AMR][1000 genomes]
rs17129383	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17129387	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17129395	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17129414	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59252906	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs66892773	0.83[AFR][1000 genomes]
rs73278045	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73278051	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73278073	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73278074	1.00[AMR][1000 genomes]
rs73278076	0.95[AFR][1000 genomes];1.00[AMR][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	nsv832384	chr12:41772648-41971430	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv3337301	chr12:41851654-42093677	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv826349	chr12:41878846-41911495	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41869600-41905200	Weak transcription	Colon Smooth Muscle	Colon
2	chr12:41877400-41903600	Weak transcription	Ovary	ovary
3	chr12:41881800-41887000	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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