Variant report

Variant	rs73989229
Chromosome Location	chr2:212790695-212790696
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11884015	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11897574	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60268595	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73079305	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73079329	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73079349	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34128	chr2:212581485-212857122	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv834525	chr2:212693190-212860356	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212788400-212795000	Weak transcription	Fetal Heart	heart
2	chr2:212788800-212790800	Weak transcription	Placenta	Placenta
3	chr2:212789600-212791000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:212790000-212791400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr2:212790600-212790800	Enhancers	H9 Derived Neuronal Progenitor 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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